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	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Gene summary for SCN2A

Gene summary

Gene information	Gene symbol	SCN2A
	Gene ID	6326
	Gene name	sodium voltage-gated channel alpha subunit 2
	Synonyms	BFIC3|BFIS3|BFNIS|EIEE11|HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2
	Cytomap	2q24.3
	Type of gene	protein-coding
	Description	sodium channel protein type 2 subunit alphasodium channel protein brain II subunit alphasodium channel protein type II subunit alphasodium channel protein, brain type 2 alpha subunitsodium channel, voltage-gated, type II, alpha 1 polypeptidesodium ch
	Modification date	20200313
	UniProtAcc	A0A0D9SGG2, A0A1B0GTS6, A0A1B0GTX0, A0A1B0GW40, A0A1B0GW67, A0A1B0GWA6, F6U291, Q99250,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for SCN2A

Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

ENSG00000136531

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	DOWN	ENST00000480032.4	SCN2A-205:retained_intron:SCN2A	4.097927e+02	-9.196760e-01	1.981140e-09	7.189457e-07
PG	DOWN	ENST00000636662.2	SCN2A-212:nonsense_mediated_decay:SCN2A	1.931343e+02	-9.796401e-01	1.375997e-08	3.243913e-06
PG	DOWN	ENST00000486878.2	SCN2A-206:protein_coding:SCN2A	3.830585e+00	-9.414564e-01	3.690544e-03	3.698313e-02
CB	DOWN	ENST00000283256.10	SCN2A-201:protein_coding:SCN2A	3.942245e+01	-5.707967e+00	2.619515e-05	2.379762e-04
CB	DOWN	ENST00000375427.4	SCN2A-202:protein_coding:SCN2A	3.915401e+03	-8.444399e-01	4.804072e-03	1.904203e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SCN2A

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_109311	chr2	165239488:165239640:165243709:165243824:165295773:165296090	165243709:165243824
exon_skip_145980	chr2	165367217:165367371:165370126:165370299:165373225:165373347	165370126:165370299
exon_skip_146710	chr2	165239488:165239640:165243709:165243824:165295773:165295957	165243709:165243824
exon_skip_161464	chr2	165309165:165309256:165310323:165310595:165312025:165312088	165310323:165310595
exon_skip_177060	chr2	165326852:165326984:165328404:165328538:165331330:165331568	165328404:165328538
exon_skip_180101	chr2	165315471:165315758:165320240:165320364:165323156:165323500	165320240:165320364
exon_skip_181349	chr2	165239488:165239640:165245330:165245448:165295773:165295957	165245330:165245448
exon_skip_201712	chr2	165331330:165331568:165342296:165342469:165344555:165344702	165342296:165342469
exon_skip_219286	chr2	165315615:165315758:165320240:165320364:165323156:165323500	165320240:165320364
exon_skip_233234	chr2	165309352:165309443:165310323:165310595:165312025:165312088	165310323:165310595
exon_skip_245792	chr2	165344555:165344911:165354192:165354671:165365143:165365263	165354192:165354671
exon_skip_257598	chr2	165374685:165374966:165377597:165377650:165380592:165380729	165377597:165377650
exon_skip_259238	chr2	165326852:165326984:165327155:165327202:165328404:165328538	165327155:165327202
exon_skip_268103	chr2	165308666:165308794:165309165:165309256:165310323:165310595	165309165:165309256
exon_skip_269364	chr2	165367217:165367371:165370126:165373347:165374685:165374966	165370126:165373347
exon_skip_275093	chr2	165377597:165377650:165380592:165381197:165386746:165387016	165380592:165381197
exon_skip_288160	chr2	165308666:165308794:165309352:165309443:165310323:165310595	165309352:165309443
exon_skip_288751	chr2	165342296:165342469:165344555:165344911:165354192:165354671	165344555:165344911
exon_skip_28920	chr2	165239488:165239640:165245330:165245448:165295773:165296090	165245330:165245448
exon_skip_45478	chr2	165331330:165331568:165342296:165342469:165344555:165344911	165342296:165342469
exon_skip_47557	chr2	165307921:165307937:165308666:165308794:165309352:165309443	165308666:165308794
exon_skip_59087	chr2	165307853:165307937:165308666:165308794:165309352:165309443	165308666:165308794
exon_skip_70483	chr2	165370126:165370299:165373225:165373347:165374685:165374966	165373225:165373347
exon_skip_7728	chr2	165307857:165307937:165308666:165308794:165309352:165309443	165308666:165308794

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for SCN2A

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000283256	165309352	165309443	Frame-shift
ENST00000375437	165309352	165309443	Frame-shift
ENST00000637266	165309352	165309443	Frame-shift
ENST00000283256	165308666	165308794	In-frame
ENST00000375437	165308666	165308794	In-frame
ENST00000637266	165308666	165308794	In-frame
ENST00000283256	165310323	165310595	In-frame
ENST00000375437	165310323	165310595	In-frame
ENST00000637266	165310323	165310595	In-frame
ENST00000283256	165342296	165342469	In-frame
ENST00000375437	165342296	165342469	In-frame
ENST00000637266	165342296	165342469	In-frame
ENST00000283256	165354192	165354671	In-frame
ENST00000375437	165354192	165354671	In-frame
ENST00000637266	165354192	165354671	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000283256	165309352	165309443	Frame-shift
ENST00000375437	165309352	165309443	Frame-shift
ENST00000637266	165309352	165309443	Frame-shift
ENST00000283256	165308666	165308794	In-frame
ENST00000375437	165308666	165308794	In-frame
ENST00000637266	165308666	165308794	In-frame
ENST00000283256	165310323	165310595	In-frame
ENST00000375437	165310323	165310595	In-frame
ENST00000637266	165310323	165310595	In-frame
ENST00000283256	165342296	165342469	In-frame
ENST00000375437	165342296	165342469	In-frame
ENST00000637266	165342296	165342469	In-frame
ENST00000283256	165354192	165354671	In-frame
ENST00000375437	165354192	165354671	In-frame
ENST00000637266	165354192	165354671	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000283256	165309352	165309443	Frame-shift
ENST00000375437	165309352	165309443	Frame-shift
ENST00000637266	165309352	165309443	Frame-shift
ENST00000283256	165308666	165308794	In-frame
ENST00000375437	165308666	165308794	In-frame
ENST00000637266	165308666	165308794	In-frame
ENST00000283256	165310323	165310595	In-frame
ENST00000375437	165310323	165310595	In-frame
ENST00000637266	165310323	165310595	In-frame
ENST00000283256	165342296	165342469	In-frame
ENST00000375437	165342296	165342469	In-frame
ENST00000637266	165342296	165342469	In-frame
ENST00000283256	165344555	165344911	In-frame
ENST00000375437	165344555	165344911	In-frame
ENST00000637266	165344555	165344911	In-frame
ENST00000283256	165354192	165354671	In-frame
ENST00000375437	165354192	165354671	In-frame
ENST00000637266	165354192	165354671	In-frame
ENST00000283256	165370126	165370299	In-frame
ENST00000375437	165370126	165370299	In-frame
ENST00000637266	165370126	165370299	In-frame
ENST00000283256	165373225	165373347	In-frame
ENST00000375437	165373225	165373347	In-frame
ENST00000637266	165373225	165373347	In-frame
ENST00000283256	165377597	165377650	In-frame
ENST00000375437	165377597	165377650	In-frame
ENST00000637266	165377597	165377650	In-frame

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Infer the effects of exon skipping event on protein functional features for SCN2A

p-ENSG00000136531_img4.png

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000283256	8677	2005	165308666	165308794	634	761	159	201
ENST00000375437	8809	2005	165308666	165308794	768	895	159	201
ENST00000637266	8627	2005	165308666	165308794	584	711	159	201
ENST00000283256	8677	2005	165310323	165310595	855	1126	233	323
ENST00000375437	8809	2005	165310323	165310595	989	1260	233	323
ENST00000637266	8627	2005	165310323	165310595	805	1076	233	323
ENST00000283256	8677	2005	165342296	165342469	2546	2718	796	854
ENST00000375437	8809	2005	165342296	165342469	2680	2852	796	854
ENST00000637266	8627	2005	165342296	165342469	2496	2668	796	854
ENST00000283256	8677	2005	165354192	165354671	3077	3555	973	1133
ENST00000375437	8809	2005	165354192	165354671	3211	3689	973	1133
ENST00000637266	8627	2005	165354192	165354671	3027	3505	973	1133

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000283256	8677	2005	165308666	165308794	634	761	159	201
ENST00000375437	8809	2005	165308666	165308794	768	895	159	201
ENST00000637266	8627	2005	165308666	165308794	584	711	159	201
ENST00000283256	8677	2005	165310323	165310595	855	1126	233	323
ENST00000375437	8809	2005	165310323	165310595	989	1260	233	323
ENST00000637266	8627	2005	165310323	165310595	805	1076	233	323
ENST00000283256	8677	2005	165342296	165342469	2546	2718	796	854
ENST00000375437	8809	2005	165342296	165342469	2680	2852	796	854
ENST00000637266	8627	2005	165342296	165342469	2496	2668	796	854
ENST00000283256	8677	2005	165354192	165354671	3077	3555	973	1133
ENST00000375437	8809	2005	165354192	165354671	3211	3689	973	1133
ENST00000637266	8627	2005	165354192	165354671	3027	3505	973	1133

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000283256	8677	2005	165308666	165308794	634	761	159	201
ENST00000375437	8809	2005	165308666	165308794	768	895	159	201
ENST00000637266	8627	2005	165308666	165308794	584	711	159	201
ENST00000283256	8677	2005	165310323	165310595	855	1126	233	323
ENST00000375437	8809	2005	165310323	165310595	989	1260	233	323
ENST00000637266	8627	2005	165310323	165310595	805	1076	233	323
ENST00000283256	8677	2005	165342296	165342469	2546	2718	796	854
ENST00000375437	8809	2005	165342296	165342469	2680	2852	796	854
ENST00000637266	8627	2005	165342296	165342469	2496	2668	796	854
ENST00000283256	8677	2005	165344555	165344911	2720	3075	854	973
ENST00000375437	8809	2005	165344555	165344911	2854	3209	854	973
ENST00000637266	8627	2005	165344555	165344911	2670	3025	854	973
ENST00000283256	8677	2005	165354192	165354671	3077	3555	973	1133
ENST00000375437	8809	2005	165354192	165354671	3211	3689	973	1133
ENST00000637266	8627	2005	165354192	165354671	3027	3505	973	1133
ENST00000283256	8677	2005	165370126	165370299	3833	4005	1225	1283
ENST00000375437	8809	2005	165370126	165370299	3967	4139	1225	1283
ENST00000637266	8627	2005	165370126	165370299	3783	3955	1225	1283
ENST00000283256	8677	2005	165373225	165373347	4007	4128	1283	1324
ENST00000375437	8809	2005	165373225	165373347	4141	4262	1283	1324
ENST00000637266	8627	2005	165373225	165373347	3957	4078	1283	1324
ENST00000283256	8677	2005	165377597	165377650	4412	4464	1418	1436
ENST00000375437	8809	2005	165377597	165377650	4546	4598	1418	1436
ENST00000637266	8627	2005	165377597	165377650	4362	4414	1418	1436

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	169	169	Natural variant	ID=VAR_069996;Note=In EIEE11. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:27864847;Dbxref=PMID:23935176,PMID:27864847
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	172	172	Natural variant	ID=VAR_075572;Note=Found in a patient with non-specific acute encephalopathy%3B unknown pathological significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26311622;Dbxref=dbSNP:rs1376337813,PMID:26311622
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	188	188	Natural variant	ID=VAR_029733;Note=In BFIS3%3B mutant channel inactivates more slowly than wild-type whereas the Na(+) channel conductance is not affected. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11371648;Dbxref=dbSNP:rs121917748,PMID:11371648
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	191	191	Natural variant	ID=VAR_078195;Note=Probable disease-associated mutation found in a patient with drug-resistant focal epilepsy. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519525,PMID:27864847
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	177	190	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	156	176	Transmembrane	Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	159	201	191	208	Transmembrane	Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	278	347	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	285	285	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	291	291	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	297	297	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	303	303	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	308	308	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	236	236	Natural variant	ID=VAR_069999;Note=In EIEE11. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1235044536,PMID:23935176
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	240	240	Natural variant	ID=VAR_078455;Note=In BFIS3. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	251	251	Natural variant	ID=VAR_078196;Note=In EIEE11. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519528,PMID:27864847
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	252	252	Natural variant	ID=VAR_065176;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs387906687,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	261	261	Natural variant	ID=VAR_065177;Note=In BFIS3%3B increased voltage-gated sodium channel activity%3B faster recovery from inactivation%3B gain of function. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20371507;Dbxref=dbSNP:rs1057520413,PMID:20371507
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_070000;Note=In EIEE11. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	263	263	Natural variant	ID=VAR_065178;Note=In EIEE11%3B also found in a patient with neonatal epilepsy with late-onset episodic ataxia%3B increased voltage-gated sodium channel activity%3B increased persistent sodium current%3B gain of function. A->V;Ontology_term=ECO:0000269,EC
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	322	322	Natural variant	ID=VAR_073428;Note=Found in a patient with Dravet syndrome%3B unknown pathological significance. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19783390,ECO:0000269|PubMed:23195492;Dbxref=PMID:19783390,PMID:23195492
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	111	456	Repeat	Note=I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	232	250	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	271	369	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	233	323	251	270	Transmembrane	Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	850	850	Natural variant	ID=VAR_078459;Note=Found in a patient with schizofrenia%3B unknown pathological significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	853	853	Natural variant	ID=VAR_070001;Note=In EIEE11%3B phenotype consistent with West syndrome. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs794727152,PMID:23935176
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	810	823	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	844	845	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	790	809	Transmembrane	Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	824	843	Transmembrane	Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	796	854	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	854	973	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	854	973	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with SCN2B or SCN4B;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with SCN2B or SCN4B;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with SCN2B or SCN4B;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B%3B the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B%3B the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	910	910	Disulfide bond	Note=Interchain%3B with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B%3B the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04775
Q99250	854	973	950	959	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	950	959	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	950	959	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	928	948	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	928	948	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	928	948	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	854	973	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	854	973	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	854	973	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	854	973	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	854	973	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	854	973	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	854	973	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	854	973	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	854	973	856	856	Natural variant	ID=VAR_078460;Note=In EIEE11. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	854	973	856	856	Natural variant	ID=VAR_078460;Note=In EIEE11. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	854	973	856	856	Natural variant	ID=VAR_078460;Note=In EIEE11. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	854	973	873	873	Natural variant	ID=VAR_078735;Note=In EIEE11. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	854	973	873	873	Natural variant	ID=VAR_078735;Note=In EIEE11. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	854	973	873	873	Natural variant	ID=VAR_078735;Note=In EIEE11. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	854	973	876	876	Natural variant	ID=VAR_070002;Note=In EIEE11%3B the disease progresses to West syndrome. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	854	973	876	876	Natural variant	ID=VAR_070002;Note=In EIEE11%3B the disease progresses to West syndrome. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	854	973	876	876	Natural variant	ID=VAR_070002;Note=In EIEE11%3B the disease progresses to West syndrome. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=PMID:23935176
Q99250	854	973	892	892	Natural variant	ID=VAR_029737;Note=In BFIS3. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917751,PMID:15048894
Q99250	854	973	892	892	Natural variant	ID=VAR_029737;Note=In BFIS3. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917751,PMID:15048894
Q99250	854	973	892	892	Natural variant	ID=VAR_029737;Note=In BFIS3. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917751,PMID:15048894
Q99250	854	973	896	896	Natural variant	ID=VAR_078197;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519526,PMID:27864847
Q99250	854	973	896	896	Natural variant	ID=VAR_078197;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519526,PMID:27864847
Q99250	854	973	896	896	Natural variant	ID=VAR_078197;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519526,PMID:27864847
Q99250	854	973	905	905	Natural variant	ID=VAR_078461;Note=In EIEE11. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=dbSNP:rs796053119,PMID:23708187,PMID:26291284
Q99250	854	973	905	905	Natural variant	ID=VAR_078461;Note=In EIEE11. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=dbSNP:rs796053119,PMID:23708187,PMID:26291284
Q99250	854	973	905	905	Natural variant	ID=VAR_078461;Note=In EIEE11. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=dbSNP:rs796053119,PMID:23708187,PMID:26291284
Q99250	854	973	908	908	Natural variant	ID=VAR_078462;Note=Found in a patient with schizofrenia%3B unknown pathological significance. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs2228980,PMID:26555645
Q99250	854	973	908	908	Natural variant	ID=VAR_078462;Note=Found in a patient with schizofrenia%3B unknown pathological significance. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs2228980,PMID:26555645
Q99250	854	973	908	908	Natural variant	ID=VAR_078462;Note=Found in a patient with schizofrenia%3B unknown pathological significance. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs2228980,PMID:26555645
Q99250	854	973	928	928	Natural variant	ID=VAR_078463;Note=In EIEE11%3B mild form with ataxia. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=PMID:23708187,PMID:26291284
Q99250	854	973	928	928	Natural variant	ID=VAR_078463;Note=In EIEE11%3B mild form with ataxia. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=PMID:23708187,PMID:26291284
Q99250	854	973	928	928	Natural variant	ID=VAR_078463;Note=In EIEE11%3B mild form with ataxia. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23708187,ECO:0000269|PubMed:26291284;Dbxref=PMID:23708187,PMID:26291284
Q99250	854	973	937	937	Natural variant	ID=VAR_078464;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=dbSNP:r
Q99250	854	973	937	937	Natural variant	ID=VAR_078464;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=dbSNP:r
Q99250	854	973	937	937	Natural variant	ID=VAR_078464;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=dbSNP:r
Q99250	854	973	937	937	Natural variant	ID=VAR_078465;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID:28
Q99250	854	973	937	937	Natural variant	ID=VAR_078465;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID:28
Q99250	854	973	937	937	Natural variant	ID=VAR_078465;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID:28
Q99250	854	973	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	854	973	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	854	973	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	854	973	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	864	879	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	864	879	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	864	879	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	899	927	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	899	927	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	899	927	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	949	961	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	949	961	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	949	961	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	854	973	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	846	863	Transmembrane	Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	880	898	Transmembrane	Note=Helical%3B Name%3DS5 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	880	898	Transmembrane	Note=Helical%3B Name%3DS5 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	880	898	Transmembrane	Note=Helical%3B Name%3DS5 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	854	973	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	1114	1116	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RLY
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	976	976	Natural variant	ID=VAR_078467;Note=Found in a patient with autism%3B unknown pathological significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26291284;Dbxref=PMID:26291284
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	987	987	Natural variant	ID=VAR_078736;Note=In EIEE11. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053124,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_070003;Note=In EIEE11%3B the disease progresses to West syndrome. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23935176,ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053126,PMID:23935176,PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	999	999	Natural variant	ID=VAR_078737;Note=In EIEE11. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1001	1001	Natural variant	ID=VAR_078468;Note=In BFIS3. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16417554,ECO:0000269|PubMed:23360469;Dbxref=PMID:16417554,PMID:23360469
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1003	1003	Natural variant	ID=VAR_029738;Note=In BFIS3. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048894;Dbxref=dbSNP:rs121917754,PMID:15048894
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	1128	1128	Natural variant	ID=VAR_078470;Note=Found in a patient with acute encephalitis with refractory and repetitive partial seizures%3B unknown pathological significance. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22591750;Dbxref=dbSNP:rs373780066,PMID:22591750
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	741	1013	Repeat	Note=II;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	983	1209	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	973	1133	962	982	Transmembrane	Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1225	1283	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1225	1283	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1225	1283	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1225	1283	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1225	1283	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1225	1283	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1225	1283	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1225	1283	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1225	1283	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1225	1283	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1225	1283	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1225	1283	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078738;Note=In EIEE11. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078738;Note=In EIEE11. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078738;Note=In EIEE11. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078739;Note=In EIEE11. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078739;Note=In EIEE11. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1260	1260	Natural variant	ID=VAR_078739;Note=In EIEE11. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1225	1283	1282	1282	Natural variant	ID=VAR_078471;Note=Found in a patient with schizofrenia%3B unknown pathological significance. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs1184922927,PMID:26555645
Q99250	1225	1283	1282	1282	Natural variant	ID=VAR_078471;Note=Found in a patient with schizofrenia%3B unknown pathological significance. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs1184922927,PMID:26555645
Q99250	1225	1283	1282	1282	Natural variant	ID=VAR_078471;Note=Found in a patient with schizofrenia%3B unknown pathological significance. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=dbSNP:rs1184922927,PMID:26555645
Q99250	1225	1283	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1228	1240	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1228	1240	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1228	1240	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1260	1273	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1260	1273	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1260	1273	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1225	1283	1210	1227	Transmembrane	Note=Helical%3B Name%3DS1 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1210	1227	Transmembrane	Note=Helical%3B Name%3DS1 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1210	1227	Transmembrane	Note=Helical%3B Name%3DS1 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1241	1259	Transmembrane	Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1241	1259	Transmembrane	Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1241	1259	Transmembrane	Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1225	1283	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1283	1324	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1283	1324	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1283	1324	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1283	1324	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1283	1324	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1283	1324	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1283	1324	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1283	1324	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1283	1324	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1283	1324	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1283	1324	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1283	1324	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1283	1324	1312	1312	Natural variant	ID=VAR_073429;Note=In EIEE11%3B modified voltage-gated sodium channel activity%3B activated with lowered voltage sensitivity%3B disturbed fast and slow inactivation. R->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:197833
Q99250	1283	1324	1312	1312	Natural variant	ID=VAR_073429;Note=In EIEE11%3B modified voltage-gated sodium channel activity%3B activated with lowered voltage sensitivity%3B disturbed fast and slow inactivation. R->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:197833
Q99250	1283	1324	1312	1312	Natural variant	ID=VAR_073429;Note=In EIEE11%3B modified voltage-gated sodium channel activity%3B activated with lowered voltage sensitivity%3B disturbed fast and slow inactivation. R->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:197833
Q99250	1283	1324	1316	1316	Natural variant	ID=VAR_078198;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs796053130,PMID:27864847
Q99250	1283	1324	1316	1316	Natural variant	ID=VAR_078198;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs796053130,PMID:27864847
Q99250	1283	1324	1316	1316	Natural variant	ID=VAR_078198;Note=In EIEE11. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs796053130,PMID:27864847
Q99250	1283	1324	1319	1319	Natural variant	ID=VAR_029739;Note=In BFIS3%3B modified voltage-gated sodium channel activity%3B modified voltage dependence of activation and inactivation. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15048894,ECO:000026
Q99250	1283	1324	1319	1319	Natural variant	ID=VAR_029739;Note=In BFIS3%3B modified voltage-gated sodium channel activity%3B modified voltage dependence of activation and inactivation. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15048894,ECO:000026
Q99250	1283	1324	1319	1319	Natural variant	ID=VAR_029739;Note=In BFIS3%3B modified voltage-gated sodium channel activity%3B modified voltage dependence of activation and inactivation. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15048894,ECO:000026
Q99250	1283	1324	1321	1321	Natural variant	ID=VAR_078740;Note=In BFIS3%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25982755;Dbxref=PMID:25982755
Q99250	1283	1324	1321	1321	Natural variant	ID=VAR_078740;Note=In BFIS3%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25982755;Dbxref=PMID:25982755
Q99250	1283	1324	1321	1321	Natural variant	ID=VAR_078740;Note=In BFIS3%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25982755;Dbxref=PMID:25982755
Q99250	1283	1324	1323	1323	Natural variant	ID=VAR_070004;Note=In EIEE11%3B the disease progresses to West syndrome. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1057519523,PMID:23935176
Q99250	1283	1324	1323	1323	Natural variant	ID=VAR_070004;Note=In EIEE11%3B the disease progresses to West syndrome. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1057519523,PMID:23935176
Q99250	1283	1324	1323	1323	Natural variant	ID=VAR_070004;Note=In EIEE11%3B the disease progresses to West syndrome. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23935176;Dbxref=dbSNP:rs1057519523,PMID:23935176
Q99250	1283	1324	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1293	1300	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1293	1300	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1293	1300	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1320	1336	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1320	1336	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1320	1336	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1283	1324	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1274	1292	Transmembrane	Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1301	1319	Transmembrane	Note=Helical%3B Name%3DS4 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1301	1319	Transmembrane	Note=Helical%3B Name%3DS4 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1283	1324	1301	1319	Transmembrane	Note=Helical%3B Name%3DS4 of repeat III;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1418	1436	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1418	1436	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1418	1436	1	2005	Chain	ID=PRO_0000048491;Note=Sodium channel protein type 2 subunit alpha
Q99250	1418	1436	1409	1430	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1418	1436	1409	1430	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1418	1436	1409	1430	Intramembrane	Note=Pore-forming;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:D0E0C2
Q99250	1418	1436	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1418	1436	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1418	1436	102	2005	Natural variant	ID=VAR_078450;Note=Probable disease-associated mutation found in a patient with intractable epilepsy and severe mental decline%3B non-conducting%3B loss of voltage-gated sodium channel activity%3B dominant-negatif. Missing;Ontology_term=ECO:0000269;eviden
Q99250	1418	1436	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1418	1436	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1418	1436	169	2005	Natural variant	ID=VAR_078453;Note=Found in a patient with schizofrenia%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26555645;Dbxref=PMID:26555645
Q99250	1418	1436	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1418	1436	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1418	1436	583	2005	Natural variant	ID=VAR_078732;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25969726;Dbxref=PMID:25969726
Q99250	1418	1436	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	959	2005	Natural variant	ID=VAR_078466;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	1013	2005	Natural variant	ID=VAR_078469;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B loss of voltage-gated sodium channel activity%3B non-conducting. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28256214;Dbxref=PMID
Q99250	1418	1436	1398	2005	Natural variant	ID=VAR_078742;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=PMID:23033978
Q99250	1418	1436	1398	2005	Natural variant	ID=VAR_078742;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=PMID:23033978
Q99250	1418	1436	1398	2005	Natural variant	ID=VAR_078742;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=PMID:23033978
Q99250	1418	1436	1420	1420	Natural variant	ID=VAR_078475;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B decreased voltage-gated sodium channel activity%3B faster channel inactivation%3B fewer channels contribution to macroscopic currents and fewer cha
Q99250	1418	1436	1420	1420	Natural variant	ID=VAR_078475;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B decreased voltage-gated sodium channel activity%3B faster channel inactivation%3B fewer channels contribution to macroscopic currents and fewer cha
Q99250	1418	1436	1420	1420	Natural variant	ID=VAR_078475;Note=Probable disease-associated mutation found in a patient with autism spectrum disorder%3B decreased voltage-gated sodium channel activity%3B faster channel inactivation%3B fewer channels contribution to macroscopic currents and fewer cha
Q99250	1418	1436	1422	1422	Natural variant	ID=VAR_070008;Note=Probable disease-associated mutation found in a boy with infantile spasms and bitemporal glucose hypometabolism. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23827426;Dbxref=dbSNP:rs796053137,PMID:23827426
Q99250	1418	1436	1422	1422	Natural variant	ID=VAR_070008;Note=Probable disease-associated mutation found in a boy with infantile spasms and bitemporal glucose hypometabolism. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23827426;Dbxref=dbSNP:rs796053137,PMID:23827426
Q99250	1418	1436	1422	1422	Natural variant	ID=VAR_070008;Note=Probable disease-associated mutation found in a boy with infantile spasms and bitemporal glucose hypometabolism. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23827426;Dbxref=dbSNP:rs796053137,PMID:23827426
Q99250	1418	1436	1435	2005	Natural variant	ID=VAR_078743;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1418	1436	1435	2005	Natural variant	ID=VAR_078743;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1418	1436	1435	2005	Natural variant	ID=VAR_078743;Note=In EIEE11. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267
Q99250	1418	1436	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1418	1436	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1418	1436	1190	1504	Repeat	Note=III;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1418	1436	1431	1447	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1418	1436	1431	1447	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q99250	1418	1436	1431	1447	Topological domain	Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in SCN2A

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for SCN2A

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for SCN2A

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SCN2A

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for SCN2A

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBFOX2	exon_skip_82223	-4.608963e-01	4.797264e-09
CB	ELAVL4	exon_skip_82223	-4.069247e-01	3.451542e-07
CB	MBNL1	exon_skip_82223	-4.446562e-01	1.879949e-08
CB	HNRNPK	exon_skip_82223	-5.163882e-01	2.531164e-11
CB	PCBP2	exon_skip_82223	-4.295703e-01	6.281096e-08
CB	G3BP2	exon_skip_82223	-5.437579e-01	1.316873e-12
CB	HNRNPA1	exon_skip_82223	-4.726156e-01	1.711196e-09
CB	PUM1	exon_skip_82223	-4.288712e-01	6.632864e-08
CB	HNRNPDL	exon_skip_82223	-4.258776e-01	8.364413e-08
CB	HNRNPC	exon_skip_82223	-4.300822e-01	6.034957e-08
CB	EIF4G2	exon_skip_82223	-4.488469e-01	1.330577e-08
CB	CPEB4	exon_skip_82223	-4.065693e-01	3.541566e-07
CB	PABPC1	exon_skip_82223	-4.201958e-01	1.291103e-07
CB	SRSF1	exon_skip_82223	-4.981609e-01	1.573603e-10
CB	EIF4B	exon_skip_82223	-4.852203e-01	5.402190e-10
CB	ZCRB1	exon_skip_82223	-4.408096e-01	2.571318e-08
CB	HNRNPF	exon_skip_82223	-4.326537e-01	4.931969e-08

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RelatedDrugs for SCN2A

Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q99250	approved|investigational	DB00555	Lamotrigine	small molecule	Q99250
Q99250	approved|investigational|vet_approved	DB00818	Propofol	small molecule	Q99250
Q99250	approved|investigational	DB00909	Zonisamide	small molecule	Q99250

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RelatedDiseases for SCN2A

Diseases associated with this gene. (DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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