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Protein

Sodium channel protein type 1 subunit alpha

Gene

SCN1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.

GO - Molecular functioni

  • voltage-gated sodium channel activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

Protein family/group databases

TCDBi1.A.1.10.7. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 1 subunit alpha
Alternative name(s):
Sodium channel protein brain I subunit alpha
Sodium channel protein type I subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.1
Gene namesi
Name:SCN1A
Synonyms:NAC1, SCN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10585. SCN1A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 123123CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei124 – 14724Helical; Name=S1 of repeat IBy similarityAdd
BLAST
Topological domaini148 – 1558ExtracellularSequence Analysis
Transmembranei156 – 17520Helical; Name=S2 of repeat IBy similarityAdd
BLAST
Topological domaini176 – 18813CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei189 – 20719Helical; Name=S3 of repeat IBy similarityAdd
BLAST
Topological domaini208 – 2136ExtracellularSequence Analysis
Transmembranei214 – 23320Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd
BLAST
Topological domaini234 – 24916CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei250 – 27324Helical; Name=S5 of repeat IBy similarityAdd
BLAST
Topological domaini274 – 399126ExtracellularSequence AnalysisAdd
BLAST
Transmembranei400 – 42526Helical; Name=S6 of repeat IBy similarityAdd
BLAST
Topological domaini426 – 762337CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei763 – 78725Helical; Name=S1 of repeat IIBy similarityAdd
BLAST
Topological domaini788 – 79811ExtracellularSequence AnalysisAdd
BLAST
Transmembranei799 – 82224Helical; Name=S2 of repeat IIBy similarityAdd
BLAST
Topological domaini823 – 8308CytoplasmicSequence Analysis
Transmembranei831 – 85020Helical; Name=S3 of repeat IIBy similarityAdd
BLAST
Topological domaini851 – 8566ExtracellularSequence Analysis
Transmembranei857 – 87620Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd
BLAST
Topological domaini877 – 89216CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei893 – 91321Helical; Name=S5 of repeat IIBy similarityAdd
BLAST
Topological domaini914 – 96653ExtracellularSequence AnalysisAdd
BLAST
Transmembranei967 – 99226Helical; Name=S6 of repeat IIBy similarityAdd
BLAST
Topological domaini993 – 1213221CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1214 – 123724Helical; Name=S1 of repeat IIIBy similarityAdd
BLAST
Topological domaini1238 – 125013ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1251 – 127626Helical; Name=S2 of repeat IIIBy similarityAdd
BLAST
Topological domaini1277 – 12826CytoplasmicSequence Analysis
Transmembranei1283 – 130422Helical; Name=S3 of repeat IIIBy similarityAdd
BLAST
Topological domaini1305 – 13084ExtracellularSequence Analysis
Transmembranei1309 – 133022Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd
BLAST
Topological domaini1331 – 134919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1350 – 137728Helical; Name=S5 of repeat IIIBy similarityAdd
BLAST
Topological domaini1378 – 145679ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1457 – 148327Helical; Name=S6 of repeat IIIBy similarityAdd
BLAST
Topological domaini1484 – 153653CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1537 – 156024Helical; Name=S1 of repeat IVBy similarityAdd
BLAST
Topological domaini1561 – 157111ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1572 – 159524Helical; Name=S2 of repeat IVBy similarityAdd
BLAST
Topological domaini1596 – 16016CytoplasmicSequence Analysis
Transmembranei1602 – 162524Helical; Name=S3 of repeat IVBy similarityAdd
BLAST
Topological domaini1626 – 163510ExtracellularSequence Analysis
Transmembranei1636 – 165722Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd
BLAST
Topological domaini1658 – 167215CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1673 – 169523Helical; Name=S5 of repeat IVBy similarityAdd
BLAST
Topological domaini1696 – 176166ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1762 – 178625Helical; Name=S6 of repeat IVBy similarityAdd
BLAST
Topological domaini1787 – 2009223CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 2 (GEFS+2)29 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.

See also OMIM:604403
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271R → T in GEFS+2. 1 Publication
Corresponds to variant rs121917906 [ dbSNP | Ensembl ].
VAR_064229
Natural varianti74 – 741S → P in GEFS+2. 1 Publication
Corresponds to variant rs121917931 [ dbSNP | Ensembl ].
VAR_064295
Natural varianti188 – 1881D → V in GEFS+2; results in increased membrane excitability as suggested by increased resistance to cumulative inactivation during high frequency activation. 2 Publications
Corresponds to variant rs121917953 [ dbSNP | Ensembl ].
VAR_014267
Natural varianti218 – 2181F → L in GEFS+2; also found in patients with Panayiotopoulos syndrome. 2 Publications
VAR_073457
Natural varianti254 – 2541T → I in GEFS+2. 1 Publication
VAR_073465
Natural varianti291 – 2911S → G in GEFS+2. 1 Publication
VAR_073472
Natural varianti377 – 3771R → Q in GEFS+2. 1 Publication
Corresponds to variant rs121917957 [ dbSNP | Ensembl ].
VAR_043354
Natural varianti388 – 3881Y → H in GEFS+2. 1 Publication
Corresponds to variant rs121918781 [ dbSNP | Ensembl ].
VAR_064241
Natural varianti790 – 7901Y → C in GEFS+2. 1 Publication
Corresponds to variant rs121918782 [ dbSNP | Ensembl ].
VAR_029675
Natural varianti859 – 8591R → C in GEFS+2 and EIEE6; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel. 3 Publications
Corresponds to variant rs121918784 [ dbSNP | Ensembl ].
VAR_064306
Natural varianti859 – 8591R → H in GEFS+2; results in impaired channel fast inactivation and significantly increased persistent current. 1 Publication
VAR_073501
Natural varianti875 – 8751T → M in GEFS+2 and EIEE6; borderline phenotype. 2 Publications
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_010110
Natural varianti899 – 8991I → T in GEFS+2. 1 Publication
VAR_073508
Natural varianti935 – 9351N → H in GEFS+2. 1 Publication
VAR_073514
Natural varianti946 – 9461R → H in EIEE6 and GEFS+2; GEFS+2 phenotype consists of partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs; loss-of-function mutation resulting in complete absence of sodium current. 7 Publications
Corresponds to variant rs121917971 [ dbSNP | Ensembl ].
VAR_029683
Natural varianti960 – 9601M → T in GEFS+2. 1 Publication
VAR_073522
Natural varianti973 – 9731M → V in GEFS+2. 2 Publications
Corresponds to variant rs121917991 [ dbSNP | Ensembl ].
VAR_043359
Natural varianti976 – 9761M → I in EIEE6 and GEFS+2. 2 Publications
VAR_073524
Natural varianti978 – 9781I → M in GEFS+2; unknown pathological significance. 1 Publication
VAR_073525
Natural varianti1204 – 12041W → R in GEFS+2; causes hyperpolarized shifts in the voltage dependence of activation and steady-state inactivation. 3 Publications
Corresponds to variant rs121917930 [ dbSNP | Ensembl ].
VAR_014270
Natural varianti1204 – 12041W → S in GEFS+2. 1 Publication
VAR_073536
Natural varianti1230 – 12301L → F in EIEE6 and GEFS+2. 1 Publication
VAR_073540
Natural varianti1249 – 12491K → N in GEFS+2. 1 Publication
VAR_073543
Natural varianti1250 – 12501T → M in GEFS+2. 1 Publication
VAR_073544
Natural varianti1270 – 12701K → T in GEFS+2. 1 Publication
Corresponds to variant rs121918626 [ dbSNP | Ensembl ].
VAR_014271
Natural varianti1309 – 13091L → F in GEFS+2. 1 Publication
Corresponds to variant rs121918801 [ dbSNP | Ensembl ].
VAR_064258
Natural varianti1353 – 13531V → L in GEFS+2; complete loss of function. 2 Publications
Corresponds to variant rs121917954 [ dbSNP | Ensembl ].
VAR_014272
Natural varianti1366 – 13661V → I in GEFS+2 and ICEGTC. 1 Publication
Corresponds to variant rs121918805 [ dbSNP | Ensembl ].
VAR_043364
Natural varianti1414 – 14141N → D in GEFS+2. 1 Publication
VAR_073571
Natural varianti1428 – 14281V → A in GEFS+2. 1 Publication
Corresponds to variant rs121918627 [ dbSNP | Ensembl ].
VAR_029700
Natural varianti1596 – 15961R → H in GEFS+2. 1 Publication
VAR_073604
Natural varianti1648 – 16481R → H in GEFS+2 and EIEE6. 3 Publications
Corresponds to variant rs121918622 [ dbSNP | Ensembl ].
VAR_010111
Natural varianti1656 – 16561I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. 2 Publications
Corresponds to variant rs121917955 [ dbSNP | Ensembl ].
VAR_014273
Natural varianti1657 – 16571R → C in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation; shows a 50% reduction in current density and accelerates recovery from slow inactivation. 1 Publication
Corresponds to variant rs121918811 [ dbSNP | Ensembl ].
VAR_029709
Natural varianti1685 – 16851A → V in GEFS+2; complete loss of function. 2 Publications
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029715
Natural varianti1687 – 16871F → S in GEFS+2. 1 Publication
Corresponds to variant rs121917932 [ dbSNP | Ensembl ].
VAR_064324
Natural varianti1739 – 17391P → L in GEFS+2. 1 Publication
VAR_073632
Natural varianti1742 – 17421D → G in GEFS+2. 1 Publication
Corresponds to variant rs121918812 [ dbSNP | Ensembl ].
VAR_057998
Natural varianti1765 – 17651F → L in GEFS+2; disease phenotype consists of partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs; loss-of-function mutation resulting in complete absence of sodium current. 1 Publication
VAR_073635
Natural varianti1795 – 17951E → K in GEFS+2. 1 Publication
Corresponds to variant rs121918813 [ dbSNP | Ensembl ].
VAR_064276
Natural varianti1852 – 18521M → T in GEFS+2. 1 Publication
Corresponds to variant rs121918783 [ dbSNP | Ensembl ].
VAR_029727
Natural varianti1857 – 18571V → L in GEFS+2. 1 Publication
Corresponds to variant rs121918814 [ dbSNP | Ensembl ].
VAR_057999
Natural varianti1866 – 18661D → Y in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation. 1 Publication
Corresponds to variant rs121918815 [ dbSNP | Ensembl ].
VAR_058000
Natural varianti1867 – 18671I → T in GEFS+2. 2 Publications
VAR_073653
Epileptic encephalopathy, early infantile, 6 (EIEE6)33 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.

See also OMIM:607208
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171Missing in EIEE6. 1 Publication
VAR_073441
Natural varianti58 – 581G → V in EIEE6. 1 Publication
VAR_073443
Natural varianti61 – 611L → F in EIEE6. 1 Publication
VAR_073444
Natural varianti63 – 631F → L in EIEE6. 1 Publication
Corresponds to variant rs121917907 [ dbSNP | Ensembl ].
VAR_064230
Natural varianti68 – 681I → T in EIEE6; borderline phenotype. 1 Publication
VAR_073445
Natural varianti78 – 781E → D in EIEE6. 2 Publications
Corresponds to variant rs121917933 [ dbSNP | Ensembl ].
VAR_029660
Natural varianti79 – 791D → H in EIEE6; borderline phenotype. 2 Publications
Corresponds to variant rs121917982 [ dbSNP | Ensembl ].
VAR_064346
Natural varianti79 – 791D → N in EIEE6. 1 Publication
VAR_073446
Natural varianti84 – 841Y → C in EIEE6. 4 Publications
Corresponds to variant rs121917964 [ dbSNP | Ensembl ].
VAR_043349
Natural varianti90 – 901F → S in EIEE6 and ICEGTC. 2 Publications
Corresponds to variant rs121918733 [ dbSNP | Ensembl ].
VAR_064231
Natural varianti91 – 911I → T in EIEE6. 1 Publication
Corresponds to variant rs121918734 [ dbSNP | Ensembl ].
VAR_064232
Natural varianti98 – 981A → P in EIEE6. 1 Publication
VAR_073447
Natural varianti101 – 1011R → Q in EIEE6 and ICEGTC. 7 Publications
Corresponds to variant rs121917918 [ dbSNP | Ensembl ].
VAR_029661
Natural varianti101 – 1011R → W in EIEE6. 5 Publications
Corresponds to variant rs121917965 [ dbSNP | Ensembl ].
VAR_064233
Natural varianti103 – 1031S → G in EIEE6. 1 Publication
Corresponds to variant rs121918743 [ dbSNP | Ensembl ].
VAR_029662
Natural varianti105 – 1051T → I in EIEE6. 1 Publication
VAR_073448
Natural varianti108 – 1081L → R in EIEE6. 1 Publication
VAR_073449
Natural varianti112 – 1121T → I in EIEE6. 1 Publication
Corresponds to variant rs121918745 [ dbSNP | Ensembl ].
VAR_029663
Natural varianti118 – 1181R → S in EIEE6. 1 Publication
Corresponds to variant rs121917959 [ dbSNP | Ensembl ].
VAR_043350
Natural varianti124 – 1241I → N in EIEE6. 2 Publications
Corresponds to variant rs121918761 [ dbSNP | Ensembl ].
VAR_064234
Natural varianti127 – 1271H → D in EIEE6; borderline phenotype. 1 Publication
VAR_073450
Natural varianti162 – 1621T → P in EIEE6. 1 Publication
Corresponds to variant rs121917934 [ dbSNP | Ensembl ].
VAR_064296
Natural varianti171 – 1711I → K in EIEE6. 1 Publication
Corresponds to variant rs121918766 [ dbSNP | Ensembl ].
VAR_064235
Natural varianti171 – 1711I → R in EIEE6. 1 Publication
VAR_073451
Natural varianti175 – 1751A → T in EIEE6. 1 Publication
Corresponds to variant rs121918767 [ dbSNP | Ensembl ].
VAR_064236
Natural varianti175 – 1751A → V in EIEE6. 1 Publication
VAR_073452
Natural varianti177 – 1771G → E in EIEE6. 1 Publication
Corresponds to variant rs121918770 [ dbSNP | Ensembl ].
VAR_029664
Natural varianti179 – 1791C → R in EIEE6. 1 Publication
VAR_073454
Natural varianti190 – 1901W → R in EIEE6. 2 Publications
Corresponds to variant rs121918773 [ dbSNP | Ensembl ].
VAR_029665
Natural varianti191 – 1911N → K in EIEE6. 1 Publication
VAR_073455
Natural varianti191 – 1911N → Y in EIEE6. 2 Publications
Corresponds to variant rs121918762 [ dbSNP | Ensembl ].
VAR_064237
Natural varianti194 – 1941D → G in EIEE6. 1 Publication
VAR_073456
Natural varianti194 – 1941D → N in EIEE6. 2 Publications
Corresponds to variant rs121917935 [ dbSNP | Ensembl ].
VAR_064238
Natural varianti199 – 1991T → R in EIEE6; borderline phenotype with spike wave activity. 2 Publications
Corresponds to variant rs121917983 [ dbSNP | Ensembl ].
VAR_064347
Natural varianti217 – 2171T → K in EIEE6. 1 Publication
Corresponds to variant rs121917936 [ dbSNP | Ensembl ].
VAR_064297
Natural varianti223 – 2231A → E in EIEE6. 1 Publication
VAR_073458
Natural varianti226 – 2261T → M in EIEE6; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy. 1 Publication
Corresponds to variant rs121917984 [ dbSNP | Ensembl ].
VAR_043351
Natural varianti226 – 2261T → R in EIEE6. 1 Publication
VAR_073459
Natural varianti227 – 2271I → S in EIEE6; borderline phenotype with spike wave activity in some patients. 6 Publications
Corresponds to variant rs121917937 [ dbSNP | Ensembl ].
VAR_029666
Natural varianti227 – 2271I → T in EIEE6. 1 Publication
VAR_073460
Natural varianti232 – 2321G → S in EIEE6. 2 Publications
VAR_073461
Natural varianti233 – 2331L → R in EIEE6. 1 Publication
VAR_073462
Natural varianti239 – 2391A → T in EIEE6; borderline phenotype with spike wave activity in some patients. 2 Publications
Corresponds to variant rs121917985 [ dbSNP | Ensembl ].
VAR_043352
Natural varianti239 – 2391A → V in EIEE6. 1 Publication
Corresponds to variant rs121917909 [ dbSNP | Ensembl ].
VAR_064239
Natural varianti243 – 2431S → Y in EIEE6. 1 Publication
VAR_073463
Natural varianti252 – 2521I → N in EIEE6. 1 Publication
Corresponds to variant rs121918780 [ dbSNP | Ensembl ].
VAR_029667
Natural varianti259 – 2591S → R in EIEE6. 2 Publications
Corresponds to variant rs121918735 [ dbSNP | Ensembl ].
VAR_064240
Natural varianti265 – 2651G → W in EIEE6. 1 Publication
Corresponds to variant rs121918749 [ dbSNP | Ensembl ].
VAR_029668
Natural varianti277 – 2771C → R in EIEE6. 1 Publication
VAR_073466
Natural varianti280 – 2801W → C in EIEE6. 1 Publication
VAR_073467
Natural varianti280 – 2801W → R in EIEE6. 3 Publications
Corresponds to variant rs121917938 [ dbSNP | Ensembl ].
VAR_029669
Natural varianti281 – 2811P → A in EIEE6. 1 Publication
VAR_073468
Natural varianti281 – 2811P → L in EIEE6. 1 Publication
VAR_073469
Natural varianti281 – 2811P → S in EIEE6. 1 Publication
VAR_073470
Natural varianti289 – 2891E → V in EIEE6. 1 Publication
VAR_072743
Natural varianti297 – 2971T → I in EIEE6. 1 Publication
Corresponds to variant rs121918771 [ dbSNP | Ensembl ].
VAR_029670
Natural varianti322 – 3221R → I in EIEE6. 2 Publications
Corresponds to variant rs121917928 [ dbSNP | Ensembl ].
VAR_064298
Natural varianti340 – 3401S → F in EIEE6. 1 Publication
VAR_073474
Natural varianti342 – 3421A → V in EIEE6. 1 Publication
VAR_073475
Natural varianti343 – 3431G → D in EIEE6. 3 Publications
Corresponds to variant rs121918753 [ dbSNP | Ensembl ].
VAR_029671
Natural varianti345 – 3451C → R in EIEE6. 1 Publication
VAR_073476
Natural varianti351 – 3511C → W in EIEE6. 1 Publication
VAR_073477
Natural varianti355 – 3551G → D in EIEE6. 1 Publication
VAR_073478
Natural varianti356 – 3561R → G in EIEE6. 1 Publication
Corresponds to variant rs121917920 [ dbSNP | Ensembl ].
VAR_064299
Natural varianti357 – 3571N → I in EIEE6. 1 Publication
VAR_073479
Natural varianti358 – 3581P → T in EIEE6. 1 Publication
Corresponds to variant rs121917923 [ dbSNP | Ensembl ].
VAR_064300
Natural varianti359 – 3591N → S in EIEE6. 1 Publication
VAR_073480
Natural varianti363 – 3631T → P in EIEE6. 1 Publication
VAR_073481
Natural varianti363 – 3631T → R in EIEE6. 1 Publication
VAR_073482
Natural varianti366 – 3661D → E in EIEE6. 1 Publication
Corresponds to variant rs121917958 [ dbSNP | Ensembl ].
VAR_043353
Natural varianti378 – 3781L → Q in EIEE6. 1 Publication
VAR_073483
Natural varianti379 – 3791M → R in EIEE6. 1 Publication
VAR_072744
Natural varianti383 – 3831F → L in EIEE6. 1 Publication
Corresponds to variant rs121917939 [ dbSNP | Ensembl ].
VAR_064301
Natural varianti384 – 3841W → R in EIEE6; borderline phenotype. 2 Publications
VAR_073485
Natural varianti393 – 3931R → C in EIEE6; also in a patient with myoclonic astatic epilepsy. 5 Publications
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_043355
Natural varianti393 – 3931R → H in EIEE6 and ICEGTC. 6 Publications
Corresponds to variant rs121917927 [ dbSNP | Ensembl ].
VAR_029672
Natural varianti393 – 3931R → S in EIEE6. 1 Publication
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_064302
Natural varianti400 – 4001M → V in EIEE6. 1 Publication
VAR_073486
Natural varianti400 – 4001Missing in EIEE6. 1 Publication
VAR_073487
Natural varianti403 – 4031F → L in EIEE6. 2 Publications
Corresponds to variant rs121917966 [ dbSNP | Ensembl ].
VAR_064303
Natural varianti403 – 4031F → V in EIEE6. 1 Publication
VAR_073488
Natural varianti406 – 4061V → F in EIEE6. 2 Publications
Corresponds to variant rs121918768 [ dbSNP | Ensembl ].
VAR_064242
Natural varianti409 – 4091L → W in EIEE6. 1 Publication
VAR_073489
Natural varianti413 – 4131Y → N in EIEE6. 3 Publications
Corresponds to variant rs121917967 [ dbSNP | Ensembl ].
VAR_064243
Natural varianti426 – 4261Y → C in EIEE6. 2 Publications
VAR_073490
Natural varianti426 – 4261Y → N in EIEE6. 2 Publications
Corresponds to variant rs121917940 [ dbSNP | Ensembl ].
VAR_029673
Natural varianti525 – 5251S → F in EIEE6. 1 Publication
VAR_073491
Natural varianti626 – 6261S → G in EIEE6; also found in a patient with cryptogenic generalized epilepsy. 3 Publications
Corresponds to variant rs121917990 [ dbSNP | Ensembl ].
VAR_043358
Natural varianti674 – 6741D → G in EIEE6. 1 Publication
VAR_073492
Natural varianti762 – 7621N → D in EIEE6. 1 Publication
VAR_073494
Natural varianti783 – 7831L → P in EIEE6. 2 Publications
Corresponds to variant rs121917968 [ dbSNP | Ensembl ].
VAR_064245
Natural varianti785 – 7851M → T in EIEE6. 1 Publication
VAR_073495
Natural varianti812 – 8121T → I in EIEE6; borderline phenotype. 1 Publication
VAR_073497
Natural varianti812 – 8121T → R in EIEE6. 1 Publication
Corresponds to variant rs121917941 [ dbSNP | Ensembl ].
VAR_064304
Natural varianti842 – 8421L → R in EIEE6. 1 Publication
VAR_073498
Natural varianti843 – 8431S → R in EIEE6. 1 Publication
VAR_073499
Natural varianti846 – 8461E → K in EIEE6. 1 Publication
Corresponds to variant rs121917942 [ dbSNP | Ensembl ].
VAR_064305
Natural varianti854 – 8552Missing in EIEE6. 1 Publication
VAR_073500
Natural varianti859 – 8591R → C in GEFS+2 and EIEE6; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel. 3 Publications