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P35498

- SCN1A_HUMAN

UniProt

P35498 - SCN1A_HUMAN

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Protein

Sodium channel protein type 1 subunit alpha

Gene
SCN1A, NAC1, SCN1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. voltage-gated sodium channel activity Source: UniProtKB

GO - Biological processi

  1. adult walking behavior Source: Ensembl
  2. membrane depolarization during action potential Source: RefGenome
  3. neuromuscular process controlling posture Source: Ensembl
  4. neuronal action potential Source: RefGenome
  5. neuronal action potential propagation Source: Ensembl
  6. sodium ion transmembrane transport Source: GOC
  7. sodium ion transport Source: UniProtKB
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:10585. SCN1A.

Subcellular locationi

Topology

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

GO - Cellular componenti

  1. axon initial segment Source: Ensembl
  2. intercalated disc Source: Ensembl
  3. neuronal cell body Source: Ensembl
  4. node of Ranvier Source: Ensembl
  5. plasma membrane Source: RefGenome
  6. T-tubule Source: Ensembl
  7. voltage-gated sodium channel complex Source: InterPro
  8. Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.18 Publications
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. 1 Publication
Corresponds to variant rs121917953 [ dbSNP | Ensembl ].
VAR_014267
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; 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. 1 Publication
Corresponds to variant rs121918784 [ dbSNP | Ensembl ].
VAR_064306
Natural varianti875 – 8751T → M in GEFS+2. 1 Publication
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_010110
Natural varianti1204 – 12041W → R in GEFS+2. 2 Publications
Corresponds to variant rs121917930 [ dbSNP | Ensembl ].
VAR_014270
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 varianti1428 – 14281V → A in GEFS+2. 1 Publication
Corresponds to variant rs121918627 [ dbSNP | Ensembl ].
VAR_029700
Natural varianti1648 – 16481R → H in GEFS+2 and EIEE6.
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 varianti1742 – 17421D → G in GEFS+2. 1 Publication
Corresponds to variant rs121918812 [ dbSNP | Ensembl ].
VAR_057998
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
Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631F → L in EIEE6.
Corresponds to variant rs121917907 [ dbSNP | Ensembl ].
VAR_064230
Natural varianti78 – 781E → D in EIEE6.
Corresponds to variant rs121917933 [ dbSNP | Ensembl ].
VAR_029660
Natural varianti79 – 791D → H in EIEE6; borderline phenotype.
Corresponds to variant rs121917982 [ dbSNP | Ensembl ].
VAR_064346
Natural varianti84 – 841Y → C in EIEE6.
Corresponds to variant rs121917964 [ dbSNP | Ensembl ].
VAR_043349
Natural varianti90 – 901F → S in EIEE6.
Corresponds to variant rs121918733 [ dbSNP | Ensembl ].
VAR_064231
Natural varianti91 – 911I → T in EIEE6.
Corresponds to variant rs121918734 [ dbSNP | Ensembl ].
VAR_064232
Natural varianti101 – 1011R → Q in EIEE6.
Corresponds to variant rs121917918 [ dbSNP | Ensembl ].
VAR_029661
Natural varianti101 – 1011R → W in EIEE6.
Corresponds to variant rs121917965 [ dbSNP | Ensembl ].
VAR_064233
Natural varianti103 – 1031S → G in EIEE6.
Corresponds to variant rs121918743 [ dbSNP | Ensembl ].
VAR_029662
Natural varianti112 – 1121T → I in EIEE6.
Corresponds to variant rs121918745 [ dbSNP | Ensembl ].
VAR_029663
Natural varianti118 – 1181R → S in EIEE6.
Corresponds to variant rs121917959 [ dbSNP | Ensembl ].
VAR_043350
Natural varianti124 – 1241I → N in EIEE6.
Corresponds to variant rs121918761 [ dbSNP | Ensembl ].
VAR_064234
Natural varianti162 – 1621T → P in EIEE6.
Corresponds to variant rs121917934 [ dbSNP | Ensembl ].
VAR_064296
Natural varianti171 – 1711I → K in EIEE6.
Corresponds to variant rs121918766 [ dbSNP | Ensembl ].
VAR_064235
Natural varianti175 – 1751A → T in EIEE6.
Corresponds to variant rs121918767 [ dbSNP | Ensembl ].
VAR_064236
Natural varianti177 – 1771G → E in EIEE6.
Corresponds to variant rs121918770 [ dbSNP | Ensembl ].
VAR_029664
Natural varianti190 – 1901W → R in EIEE6.
Corresponds to variant rs121918773 [ dbSNP | Ensembl ].
VAR_029665
Natural varianti191 – 1911N → Y in EIEE6.
Corresponds to variant rs121918762 [ dbSNP | Ensembl ].
VAR_064237
Natural varianti194 – 1941D → N in EIEE6.
Corresponds to variant rs121917935 [ dbSNP | Ensembl ].
VAR_064238
Natural varianti199 – 1991T → R in EIEE6; borderline phenotype with spike wave activity.
Corresponds to variant rs121917983 [ dbSNP | Ensembl ].
VAR_064347
Natural varianti217 – 2171T → K in EIEE6.
Corresponds to variant rs121917936 [ dbSNP | Ensembl ].
VAR_064297
Natural varianti226 – 2261T → M in EIEE6; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy.
Corresponds to variant rs121917984 [ dbSNP | Ensembl ].
VAR_043351
Natural varianti227 – 2271I → S in EIEE6.
Corresponds to variant rs121917937 [ dbSNP | Ensembl ].
VAR_029666
Natural varianti239 – 2391A → T in EIEE6.
Corresponds to variant rs121917985 [ dbSNP | Ensembl ].
VAR_043352
Natural varianti239 – 2391A → V in EIEE6.
Corresponds to variant rs121917909 [ dbSNP | Ensembl ].
VAR_064239
Natural varianti252 – 2521I → N in EIEE6.
Corresponds to variant rs121918780 [ dbSNP | Ensembl ].
VAR_029667
Natural varianti259 – 2591S → R in EIEE6.
Corresponds to variant rs121918735 [ dbSNP | Ensembl ].
VAR_064240
Natural varianti265 – 2651G → W in EIEE6.
Corresponds to variant rs121918749 [ dbSNP | Ensembl ].
VAR_029668
Natural varianti280 – 2801W → R in EIEE6.
Corresponds to variant rs121917938 [ dbSNP | Ensembl ].
VAR_029669
Natural varianti297 – 2971T → I in EIEE6.
Corresponds to variant rs121918771 [ dbSNP | Ensembl ].
VAR_029670
Natural varianti322 – 3221R → I in EIEE6.
Corresponds to variant rs121917928 [ dbSNP | Ensembl ].
VAR_064298
Natural varianti343 – 3431G → D in EIEE6.
Corresponds to variant rs121918753 [ dbSNP | Ensembl ].
VAR_029671
Natural varianti356 – 3561R → G in EIEE6.
Corresponds to variant rs121917920 [ dbSNP | Ensembl ].
VAR_064299
Natural varianti358 – 3581P → T in EIEE6.
Corresponds to variant rs121917923 [ dbSNP | Ensembl ].
VAR_064300
Natural varianti366 – 3661D → E in EIEE6.
Corresponds to variant rs121917958 [ dbSNP | Ensembl ].
VAR_043353
Natural varianti383 – 3831F → L in EIEE6.
Corresponds to variant rs121917939 [ dbSNP | Ensembl ].
VAR_064301
Natural varianti393 – 3931R → C in EIEE6; also in a patient with myoclonic astatic epilepsy.
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_043355
Natural varianti393 – 3931R → H in EIEE6.
Corresponds to variant rs121917927 [ dbSNP | Ensembl ].
VAR_029672
Natural varianti393 – 3931R → S in EIEE6.
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_064302
Natural varianti403 – 4031F → L in EIEE6.
Corresponds to variant rs121917966 [ dbSNP | Ensembl ].
VAR_064303
Natural varianti406 – 4061V → F in EIEE6.
Corresponds to variant rs121918768 [ dbSNP | Ensembl ].
VAR_064242
Natural varianti413 – 4131Y → N in EIEE6.
Corresponds to variant rs121917967 [ dbSNP | Ensembl ].
VAR_064243
Natural varianti426 – 4261Y → N in EIEE6.
Corresponds to variant rs121917940 [ dbSNP | Ensembl ].
VAR_029673
Natural varianti604 – 6041R → H in EIEE6.
Corresponds to variant rs121918769 [ dbSNP | Ensembl ].
VAR_064244
Natural varianti783 – 7831L → P in EIEE6.
Corresponds to variant rs121917968 [ dbSNP | Ensembl ].
VAR_064245
Natural varianti812 – 8121T → R in EIEE6.
Corresponds to variant rs121917941 [ dbSNP | Ensembl ].
VAR_064304
Natural varianti846 – 8461E → K in EIEE6.
Corresponds to variant rs121917942 [ dbSNP | Ensembl ].
VAR_064305
Natural varianti862 – 8621R → Q in EIEE6.
Corresponds to variant rs121918785 [ dbSNP | Ensembl ].
VAR_064246
Natural varianti875 – 8751T → K in EIEE6.
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_064247
Natural varianti902 – 9021F → C in EIEE6.
Corresponds to variant rs121918787 [ dbSNP | Ensembl ].
VAR_029677
Natural varianti931 – 9311R → C in EIEE6.
Corresponds to variant rs121918788 [ dbSNP | Ensembl ].
VAR_029678
Natural varianti934 – 9341M → I in EIEE6.
Corresponds to variant rs121918774 [ dbSNP | Ensembl ].
VAR_029679
Natural varianti939 – 9391H → Q in EIEE6.
Corresponds to variant rs121918795 [ dbSNP | Ensembl ].
VAR_029680
Natural varianti939 – 9391H → Y in EIEE6.
Corresponds to variant rs121918736 [ dbSNP | Ensembl ].
VAR_064248
Natural varianti942 – 9421L → P in EIEE6.
Corresponds to variant rs121917943 [ dbSNP | Ensembl ].
VAR_064307
Natural varianti944 – 9441V → A in EIEE6.
Corresponds to variant rs121917969 [ dbSNP | Ensembl ].
VAR_029681
Natural varianti944 – 9441V → E in EIEE6.
VAR_064249
Natural varianti945 – 9451F → L in EIEE6.
Corresponds to variant rs121917970 [ dbSNP | Ensembl ].
VAR_064250
Natural varianti946 – 9461R → C in EIEE6.
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_029682
Natural varianti946 – 9461R → H in EIEE6.
Corresponds to variant rs121917971 [ dbSNP | Ensembl ].
VAR_029683
Natural varianti946 – 9461R → S in EIEE6.
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_057995
Natural varianti950 – 9501G → E in EIEE6.
Corresponds to variant rs121917972 [ dbSNP | Ensembl ].
VAR_064251
Natural varianti952 – 9521W → G in EIEE6.
Corresponds to variant rs121918737 [ dbSNP | Ensembl ].
VAR_064252
Natural varianti954 – 9541E → K in EIEE6.
Corresponds to variant rs121918786 [ dbSNP | Ensembl ].
VAR_064253
Natural varianti957 – 9571W → L in EIEE6.
Corresponds to variant rs121917917 [ dbSNP | Ensembl ].
VAR_064308
Natural varianti959 – 9591C → R in EIEE6.
Corresponds to variant rs121918796 [ dbSNP | Ensembl ].
VAR_029684
Natural varianti960 – 9601M → V in EIEE6.
Corresponds to variant rs121918750 [ dbSNP | Ensembl ].
VAR_029685
Natural varianti985 – 9851N → I in EIEE6.
Corresponds to variant rs121918747 [ dbSNP | Ensembl ].
VAR_029688
Natural varianti986 – 9861L → F in EIEE6; complete loss of function.
Corresponds to variant rs121918625 [ dbSNP | Ensembl ].
VAR_014268
Natural varianti1207 – 12071L → P in EIEE6.
Corresponds to variant rs121917963 [ dbSNP | Ensembl ].
VAR_043360
Natural varianti1210 – 12101T → K in EIEE6.
Corresponds to variant rs121918738 [ dbSNP | Ensembl ].
VAR_064254
Natural varianti1231 – 12311S → R in EIEE6.
Corresponds to variant rs121918746 [ dbSNP | Ensembl ].
VAR_029692
Natural varianti1231 – 12311S → T in EIEE6.
Corresponds to variant rs121918800 [ dbSNP | Ensembl ].
VAR_064310
Natural varianti1233 – 12331G → R in EIEE6.
Corresponds to variant rs121917911 [ dbSNP | Ensembl ].
VAR_029693
Natural varianti1238 – 12381E → D in EIEE6.
Corresponds to variant rs121917973 [ dbSNP | Ensembl ].
VAR_043361
Natural varianti1245 – 12451R → Q in EIEE6.
Corresponds to variant rs121917912 [ dbSNP | Ensembl ].
VAR_064311
Natural varianti1260 – 12601T → P in EIEE6.
Corresponds to variant rs121918739 [ dbSNP | Ensembl ].
VAR_064255
Natural varianti1263 – 12631F → L in EIEE6.
Corresponds to variant rs121918752 [ dbSNP | Ensembl ].
VAR_029694
Natural varianti1265 – 12651L → P in EIEE6.
Corresponds to variant rs121918794 [ dbSNP | Ensembl ].
VAR_029695
Natural varianti1287 – 12871L → P in EIEE6.
Corresponds to variant rs121918740 [ dbSNP | Ensembl ].
VAR_064256
Natural varianti1289 – 12891Missing in EIEE6.
VAR_029696
Natural varianti1308 – 13081E → D in EIEE6.
Corresponds to variant rs121917910 [ dbSNP | Ensembl ].
VAR_064257
Natural varianti1326 – 13261A → P in EIEE6.
Corresponds to variant rs121918803 [ dbSNP | Ensembl ].
VAR_029698
Natural varianti1335 – 13351V → M in EIEE6.
Corresponds to variant rs121917960 [ dbSNP | Ensembl ].
VAR_043362
Natural varianti1355 – 13551L → P in EIEE6.
Corresponds to variant rs121918776 [ dbSNP | Ensembl ].
VAR_029697
Natural varianti1358 – 13581W → S in EIEE6.
Corresponds to variant rs121917961 [ dbSNP | Ensembl ].
VAR_043363
Natural varianti1367 – 13671N → K in EIEE6.
Corresponds to variant rs121918760 [ dbSNP | Ensembl ].
VAR_064259
Natural varianti1390 – 13901V → M in EIEE6; some patients have a borderline EIEE6 phenotype.
Corresponds to variant rs121917986 [ dbSNP | Ensembl ].
VAR_029699
Natural varianti1396 – 13961C → G in EIEE6; some patients have a borderline EIEE6 phenotype.
Corresponds to variant rs121917987 [ dbSNP | Ensembl ].
VAR_064260
Natural varianti1414 – 14141N → Y in EIEE6.
Corresponds to variant rs121917925 [ dbSNP | Ensembl ].
VAR_064312
Natural varianti1422 – 14221Y → C in EIEE6.
Corresponds to variant rs121917913 [ dbSNP | Ensembl ].
VAR_064313
Natural varianti1426 – 14261L → R in EIEE6.
Corresponds to variant rs121917944 [ dbSNP | Ensembl ].
VAR_064314
Natural varianti1433 – 14331G → E in EIEE6.
Corresponds to variant rs121918741 [ dbSNP | Ensembl ].
VAR_064261
Natural varianti1433 – 14331G → R in EIEE6.
Corresponds to variant rs121917908 [ dbSNP | Ensembl ].
VAR_064262
Natural varianti1434 – 14341W → R in EIEE6.
Corresponds to variant rs121918789 [ dbSNP | Ensembl ].
VAR_029701
Natural varianti1441 – 14411A → P in EIEE6.
Corresponds to variant rs121917974 [ dbSNP | Ensembl ].
VAR_064348
Natural varianti1450 – 14501Q → K in EIEE6.
Corresponds to variant rs121918806 [ dbSNP | Ensembl ].
VAR_064263
Natural varianti1450 – 14501Q → R in EIEE6.
Corresponds to variant rs121918790 [ dbSNP | Ensembl ].
VAR_029702
Natural varianti1451 – 14511P → L in EIEE6.
Corresponds to variant rs121917945 [ dbSNP | Ensembl ].
VAR_064315
Natural varianti1461 – 14611L → I in EIEE6.
Corresponds to variant rs121918772 [ dbSNP | Ensembl ].
VAR_029703
Natural varianti1462 – 14621Y → C in EIEE6.
Corresponds to variant rs121917962 [ dbSNP | Ensembl ].
VAR_043365
Natural varianti1463 – 14631F → S in EIEE6.
Corresponds to variant rs121917946 [ dbSNP | Ensembl ].
VAR_029704
Natural varianti1470 – 14701G → W in EIEE6.
Corresponds to variant rs121917924 [ dbSNP | Ensembl ].
VAR_064316
Natural varianti1475 – 14751L → S in EIEE6.
Corresponds to variant rs121917947 [ dbSNP | Ensembl ].
VAR_064317
Natural varianti1514 – 15141L → S in EIEE6.
Corresponds to variant rs121918764 [ dbSNP | Ensembl ].
VAR_064264
Natural varianti1545 – 15451I → V in EIEE6.
Corresponds to variant rs121917975 [ dbSNP | Ensembl ].
VAR_064265
Natural varianti1559 – 15591Missing in EIEE6.
VAR_029705
Natural varianti1586 – 15861G → E in EIEE6.
Corresponds to variant rs121918742 [ dbSNP | Ensembl ].
VAR_064266
Natural varianti1588 – 15881C → R in EIEE6.
Corresponds to variant rs121917919 [ dbSNP | Ensembl ].
VAR_064319
Natural varianti1608 – 16081D → Y in EIEE6.
Corresponds to variant rs121917915 [ dbSNP | Ensembl ].
VAR_064320
Natural varianti1612 – 16121V → I in EIEE6.
Corresponds to variant rs121918808 [ dbSNP | Ensembl ].
VAR_064267
Natural varianti1630 – 16301V → M in EIEE6.
Corresponds to variant rs121917914 [ dbSNP | Ensembl ].
VAR_064321
Natural varianti1645 – 16451R → Q in EIEE6.
Corresponds to variant rs121917976 [ dbSNP | Ensembl ].
VAR_064269
Natural varianti1648 – 16481R → C in EIEE6.
Corresponds to variant rs121918791 [ dbSNP | Ensembl ].
VAR_029708
Natural varianti1648 – 16481R → H in GEFS+2 and EIEE6.
Corresponds to variant rs121918622 [ dbSNP | Ensembl ].
VAR_010111
Natural varianti1658 – 16581T → M in EIEE6.
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064270
Natural varianti1658 – 16581T → R in EIEE6.
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064323
Natural varianti1661 – 16611F → S in EIEE6.
Corresponds to variant rs121918797 [ dbSNP | Ensembl ].
VAR_029710
Natural varianti1664 – 16641M → K in EIEE6.
Corresponds to variant rs121918765 [ dbSNP | Ensembl ].
VAR_064271
Natural varianti1668 – 16681P → A in EIEE6.
Corresponds to variant rs121917948 [ dbSNP | Ensembl ].
VAR_029711
Natural varianti1674 – 16741G → R in EIEE6.
Corresponds to variant rs121918792 [ dbSNP | Ensembl ].
VAR_029712
Natural varianti1685 – 16851A → D in EIEE6.
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029714
Natural varianti1692 – 16921F → S in EIEE6.
Corresponds to variant rs121918778 [ dbSNP | Ensembl ].
VAR_029716
Natural varianti1694 – 16941Y → C in EIEE6.
Corresponds to variant rs121918777 [ dbSNP | Ensembl ].
VAR_029713
Natural varianti1707 – 17071F → V in EIEE6.
Corresponds to variant rs121917977 [ dbSNP | Ensembl ].
VAR_064349
Natural varianti1713 – 17131S → N in EIEE6.
Corresponds to variant rs121918816 [ dbSNP | Ensembl ].
VAR_064325
Natural varianti1714 – 17141M → R in EIEE6.
Corresponds to variant rs121917949 [ dbSNP | Ensembl ].
VAR_064326
Natural varianti1716 – 17161C → R in EIEE6.
Corresponds to variant rs121917926 [ dbSNP | Ensembl ].
VAR_064327
Natural varianti1721 – 17211T → R in EIEE6.
Corresponds to variant rs121917978 [ dbSNP | Ensembl ].
VAR_064350
Natural varianti1726 – 17261W → R in EIEE6.
Corresponds to variant rs121917979 [ dbSNP | Ensembl ].
VAR_064272
Natural varianti1749 – 17491G → E in EIEE6.
Corresponds to variant rs121918798 [ dbSNP | Ensembl ].
VAR_029718
Natural varianti1756 – 17561C → G in EIEE6.
Corresponds to variant rs121918809 [ dbSNP | Ensembl ].
VAR_064273
Natural varianti1762 – 17621G → E in EIEE6.
Corresponds to variant rs121917950 [ dbSNP | Ensembl ].
VAR_064328
Natural varianti1766 – 17661Missing in EIEE6.
VAR_029719
Natural varianti1773 – 17731S → F in EIEE6.
Corresponds to variant rs121917951 [ dbSNP | Ensembl ].
VAR_064329
Natural varianti1780 – 17801M → T in EIEE6.
Corresponds to variant rs121917952 [ dbSNP | Ensembl ].
VAR_029720
Natural varianti1781 – 17811Y → C in EIEE6.
Corresponds to variant rs121918779 [ dbSNP | Ensembl ].
VAR_029721
Natural varianti1782 – 17821I → M in EIEE6.
Corresponds to variant rs121918763 [ dbSNP | Ensembl ].
VAR_064274
Natural varianti1783 – 17831A → T in EIEE6.
Corresponds to variant rs121917980 [ dbSNP | Ensembl ].
VAR_064275
Natural varianti1783 – 17831A → V in EIEE6.
Corresponds to variant rs121917921 [ dbSNP | Ensembl ].
VAR_064345
Natural varianti1787 – 17871E → K in EIEE6.
Corresponds to variant rs121917916 [ dbSNP | Ensembl ].
VAR_064330
Natural varianti1807 – 18104Missing in EIEE6.
VAR_029722
Natural varianti1812 – 18154WEKF → C in EIEE6.
VAR_029725
Natural varianti1812 – 18121W → G in EIEE6.
Corresponds to variant rs121918751 [ dbSNP | Ensembl ].
VAR_029724
Natural varianti1831 – 18311F → S in EIEE6.
Corresponds to variant rs121918748 [ dbSNP | Ensembl ].
VAR_029726
Natural varianti1881 – 18811E → D in EIEE6.
Corresponds to variant rs121918804 [ dbSNP | Ensembl ].
VAR_029728
Natural varianti1909 – 19091T → I in EIEE6.
Corresponds to variant rs121918793 [ dbSNP | Ensembl ].
VAR_029729
Natural varianti1922 – 19221I → T in EIEE6.
Corresponds to variant rs121917981 [ dbSNP | Ensembl ].
VAR_064351
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti808 – 8081T → S in ICEGTC. 1 Publication
Corresponds to variant rs121918758 [ dbSNP | Ensembl ].
VAR_029676
Natural varianti979 – 9791G → R in ICEGTC. 1 Publication
Corresponds to variant rs121918754 [ dbSNP | Ensembl ].
VAR_029686
Natural varianti983 – 9831V → A in ICEGTC. 1 Publication
Corresponds to variant rs121918756 [ dbSNP | Ensembl ].
VAR_029687
Natural varianti1011 – 10111N → I in ICEGTC. 1 Publication
Corresponds to variant rs121918759 [ dbSNP | Ensembl ].
VAR_029689
Natural varianti1366 – 13661V → I in GEFS+2 and ICEGTC. 1 Publication
Corresponds to variant rs121918805 [ dbSNP | Ensembl ].
VAR_043364
Natural varianti1611 – 16111V → F in ICEGTC. 1 Publication
Corresponds to variant rs121918630 [ dbSNP | Ensembl ].
VAR_029706
Natural varianti1632 – 16321P → S in ICEGTC. 1 Publication
Corresponds to variant rs121918755 [ dbSNP | Ensembl ].
VAR_029707
Natural varianti1709 – 17091T → I in ICEGTC. 1 Publication
Corresponds to variant rs121918629 [ dbSNP | Ensembl ].
VAR_029717
Natural varianti1808 – 18081F → L in ICEGTC. 1 Publication
Corresponds to variant rs121918757 [ dbSNP | Ensembl ].
VAR_029723
Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1174 – 11741T → S in FHM3. 1 Publication
Corresponds to variant rs121918799 [ dbSNP | Ensembl ].
VAR_064309
Natural varianti1489 – 14891Q → H in FHM3. 1 Publication
Corresponds to variant rs121918633 [ dbSNP | Ensembl ].
VAR_057996
Natural varianti1489 – 14891Q → K in FHM3. 1 Publication
Corresponds to variant rs121918628 [ dbSNP | Ensembl ].
VAR_025281
Natural varianti1499 – 14991F → L in FHM3. 1 Publication
Corresponds to variant rs121918632 [ dbSNP | Ensembl ].
VAR_057997
Natural varianti1649 – 16491L → Q in FHM3. 1 Publication
VAR_064322
Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti145 – 1451M → T in FEB3A; loss of function. 1 Publication
Corresponds to variant rs121918631 [ dbSNP | Ensembl ].
VAR_025366

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi604403. phenotype.
607208. phenotype.
609634. phenotype.
Orphaneti33069. Dravet syndrome.
1942. Epilepsy with myoclonic-astatic seizures.
569. Familial or sporadic hemiplegic migraine.
36387. Generalized epilepsy with febrile seizures-plus context.
2382. Lennox-Gastaut syndrome.
293181. Malignant migrating partial seizures of infancy.
PharmGKBiPA301.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 20092009Sodium channel protein type 1 subunit alphaPRO_0000048489Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi211 – 2111N-linked (GlcNAc...) Reviewed prediction
Glycosylationi284 – 2841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi301 – 3011N-linked (GlcNAc...) Reviewed prediction
Glycosylationi306 – 3061N-linked (GlcNAc...) Reviewed prediction
Glycosylationi338 – 3381N-linked (GlcNAc...) Reviewed prediction
Modified residuei470 – 4701Phosphoserine By similarity
Modified residuei551 – 5511Phosphoserine By similarity
Modified residuei607 – 6071Phosphoserine By similarity
Glycosylationi1378 – 13781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1392 – 13921N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1403 – 14031N-linked (GlcNAc...) Reviewed prediction
Modified residuei1516 – 15161Phosphoserine; by PKC By similarity

Post-translational modificationi

Phosphorylation at Ser-1516 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents By similarity.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP35498.
PRIDEiP35498.

PTM databases

PhosphoSiteiP35498.

Expressioni

Gene expression databases

ArrayExpressiP35498.
BgeeiP35498.
CleanExiHS_SCN1A.
GenevestigatoriP35498.

Organism-specific databases

HPAiHPA034686.

Interactioni

Subunit structurei

The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with FGF13; may regulate SCN1A activity.1 Publication

Protein-protein interaction databases

BioGridi112228. 3 interactions.
DIPiDIP-59851N.
IntActiP35498. 2 interactions.
MINTiMINT-6542725.
STRINGi9606.ENSP00000364554.

Structurei

3D structure databases

ProteinModelPortaliP35498.
SMRiP35498. Positions 124-269, 778-992, 1207-1484, 1534-1942.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati110 – 454345IAdd
BLAST
Repeati750 – 1022273IIAdd
BLAST
Repeati1200 – 1514315IIIAdd
BLAST
Repeati1523 – 1821299IVAdd
BLAST
Domaini1915 – 194430IQAdd
BLAST

Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Contains 1 IQ domain.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiP35498.
KOiK04833.
OMAiTVFEFDW.
OrthoDBiEOG7DJSK9.
PhylomeDBiP35498.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR024583. DUF3451.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR008051. Na_channel_a1su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PfamiPF11933. DUF3451. 1 hit.
PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PR01664. NACHANNEL1.
SMARTiSM00015. IQ. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P35498-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK     50
PNSDLEAGKN LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF 100
RFSATSALYI LTPFNPLRKI AIKILVHSLF SMLIMCTILT NCVFMTMSNP 150
PDWTKNVEYT FTGIYTFESL IKIIARGFCL EDFTFLRDPW NWLDFTVITF 200
AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL IQSVKKLSDV 250
MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 300
NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM 350
CVKAGRNPNY GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM 400
IFFVLVIFLG SFYLINLILA VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ 450
LKKQQEAAQQ AATATASEHS REPSAAGRLS DSSSEASKLS SKSAKERRNR 500
RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG NRLTYEKRYS 550
SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 600
NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV 650
VSLVGGPSVP TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS 700
MDFLEDPSQR QRAMSIASIL TNTVEELEES RQKCPPCWYK FSNIFLIWDC 750
SPYWLKVKHV VNLVVMDPFV DLAITICIVL NTLFMAMEHY PMTDHFNNVL 800
TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV TLSLVELGLA 850
NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 900
VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG 950
EWIETMWDCM EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL 1000
AATDDDNEMN NLQIAVDRMH KGVAYVKRKI YEFIQQSFIR KQKILDEIKP 1050
LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN GTTSGIGTGS SVEKYIIDES 1100
DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE SKEKLNESSS 1150
SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 1200
GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT 1250
MLEYADKVFT YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT 1300
ANALGYSELG AIKSLRTLRA LRPLRALSRF EGMRVVVNAL LGAIPSIMNV 1350
LLVCLIFWLI FSIMGVNLFA GKFYHCINTT TGDRFDIEDV NNHTDCLKLI 1400
ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA AVDSRNVELQ 1450
PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 1500
TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL 1550
ICLNMVTMMV ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF 1600
TIGWNIFDFV VVILSIVGMF LAELIEKYFV SPTLFRVIRL ARIGRILRLI 1650
KGAKGIRTLL FALMMSLPAL FNIGLLLFLV MFIYAIFGMS NFAYVKREVG 1700
IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD CDPNKVNPGS 1750
SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 1800
SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI 1850
AMDLPMVSGD RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK 1900
VSYQPITTTL KRKQEEVSAV IIQRAYRRHL LKRTVKQASF TYNKNKIKGG 1950
ANLLIKEDMI IDRINENSIT EKTDLTMSTA ACPPSYDRVT KPIVEKHEQE 2000
GKDEKAKGK 2009
Length:2,009
Mass (Da):228,972
Last modified:December 8, 2000 - v2
Checksum:i0593A6730F33C9A2
GO
Isoform 2 (identifier: P35498-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     671-681: Missing.

Show »
Length:1,998
Mass (Da):227,789
Checksum:i44B35678ED6346A8
GO
Isoform 3 (identifier: P35498-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     654-681: Missing.

Show »
Length:1,981
Mass (Da):226,174
Checksum:i6F4BAFB6F60F62DB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271R → T in GEFS+2. 1 Publication
Corresponds to variant rs121917906 [ dbSNP | Ensembl ].
VAR_064229
Natural varianti63 – 631F → L in EIEE6.
Corresponds to variant rs121917907 [ dbSNP | Ensembl ].
VAR_064230
Natural varianti74 – 741S → P in GEFS+2. 1 Publication
Corresponds to variant rs121917931 [ dbSNP | Ensembl ].
VAR_064295
Natural varianti78 – 781E → D in EIEE6.
Corresponds to variant rs121917933 [ dbSNP | Ensembl ].
VAR_029660
Natural varianti79 – 791D → H in EIEE6; borderline phenotype.
Corresponds to variant rs121917982 [ dbSNP | Ensembl ].
VAR_064346
Natural varianti84 – 841Y → C in EIEE6.
Corresponds to variant rs121917964 [ dbSNP | Ensembl ].
VAR_043349
Natural varianti90 – 901F → S in EIEE6.
Corresponds to variant rs121918733 [ dbSNP | Ensembl ].
VAR_064231
Natural varianti91 – 911I → T in EIEE6.
Corresponds to variant rs121918734 [ dbSNP | Ensembl ].
VAR_064232
Natural varianti101 – 1011R → Q in EIEE6.
Corresponds to variant rs121917918 [ dbSNP | Ensembl ].
VAR_029661
Natural varianti101 – 1011R → W in EIEE6.
Corresponds to variant rs121917965 [ dbSNP | Ensembl ].
VAR_064233
Natural varianti103 – 1031S → G in EIEE6.
Corresponds to variant rs121918743 [ dbSNP | Ensembl ].
VAR_029662
Natural varianti112 – 1121T → I in EIEE6.
Corresponds to variant rs121918745 [ dbSNP | Ensembl ].
VAR_029663
Natural varianti118 – 1181R → S in EIEE6.
Corresponds to variant rs121917959 [ dbSNP | Ensembl ].
VAR_043350
Natural varianti124 – 1241I → N in EIEE6.
Corresponds to variant rs121918761 [ dbSNP | Ensembl ].
VAR_064234
Natural varianti145 – 1451M → T in FEB3A; loss of function. 1 Publication
Corresponds to variant rs121918631 [ dbSNP | Ensembl ].
VAR_025366
Natural varianti162 – 1621T → P in EIEE6.
Corresponds to variant rs121917934 [ dbSNP | Ensembl ].
VAR_064296
Natural varianti171 – 1711I → K in EIEE6.
Corresponds to variant rs121918766 [ dbSNP | Ensembl ].
VAR_064235
Natural varianti175 – 1751A → T in EIEE6.
Corresponds to variant rs121918767 [ dbSNP | Ensembl ].
VAR_064236
Natural varianti177 – 1771G → E in EIEE6.
Corresponds to variant rs121918770 [ dbSNP | Ensembl ].
VAR_029664
Natural varianti188 – 1881D → V in GEFS+2. 1 Publication
Corresponds to variant rs121917953 [ dbSNP | Ensembl ].
VAR_014267
Natural varianti190 – 1901W → R in EIEE6.
Corresponds to variant rs121918773 [ dbSNP | Ensembl ].
VAR_029665
Natural varianti191 – 1911N → Y in EIEE6.
Corresponds to variant rs121918762 [ dbSNP | Ensembl ].
VAR_064237
Natural varianti194 – 1941D → N in EIEE6.
Corresponds to variant rs121917935 [ dbSNP | Ensembl ].
VAR_064238
Natural varianti199 – 1991T → R in EIEE6; borderline phenotype with spike wave activity.
Corresponds to variant rs121917983 [ dbSNP | Ensembl ].
VAR_064347
Natural varianti217 – 2171T → K in EIEE6.
Corresponds to variant rs121917936 [ dbSNP | Ensembl ].
VAR_064297
Natural varianti226 – 2261T → M in EIEE6; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy.
Corresponds to variant rs121917984 [ dbSNP | Ensembl ].
VAR_043351
Natural varianti227 – 2271I → S in EIEE6.
Corresponds to variant rs121917937 [ dbSNP | Ensembl ].
VAR_029666
Natural varianti239 – 2391A → T in EIEE6.
Corresponds to variant rs121917985 [ dbSNP | Ensembl ].
VAR_043352
Natural varianti239 – 2391A → V in EIEE6.
Corresponds to variant rs121917909 [ dbSNP | Ensembl ].
VAR_064239
Natural varianti252 – 2521I → N in EIEE6.
Corresponds to variant rs121918780 [ dbSNP | Ensembl ].
VAR_029667
Natural varianti259 – 2591S → R in EIEE6.
Corresponds to variant rs121918735 [ dbSNP | Ensembl ].
VAR_064240
Natural varianti265 – 2651G → W in EIEE6.
Corresponds to variant rs121918749 [ dbSNP | Ensembl ].
VAR_029668
Natural varianti280 – 2801W → R in EIEE6.
Corresponds to variant rs121917938 [ dbSNP | Ensembl ].
VAR_029669
Natural varianti297 – 2971T → I in EIEE6.
Corresponds to variant rs121918771 [ dbSNP | Ensembl ].
VAR_029670
Natural varianti322 – 3221R → I in EIEE6.
Corresponds to variant rs121917928 [ dbSNP | Ensembl ].
VAR_064298
Natural varianti343 – 3431G → D in EIEE6.
Corresponds to variant rs121918753 [ dbSNP | Ensembl ].
VAR_029671
Natural varianti356 – 3561R → G in EIEE6.
Corresponds to variant rs121917920 [ dbSNP | Ensembl ].
VAR_064299
Natural varianti358 – 3581P → T in EIEE6.
Corresponds to variant rs121917923 [ dbSNP | Ensembl ].
VAR_064300
Natural varianti366 – 3661D → E in EIEE6.
Corresponds to variant rs121917958 [ dbSNP | Ensembl ].
VAR_043353
Natural varianti377 – 3771R → Q in GEFS+2. 1 Publication
Corresponds to variant rs121917957 [ dbSNP | Ensembl ].
VAR_043354
Natural varianti383 – 3831F → L in EIEE6.
Corresponds to variant rs121917939 [ dbSNP | Ensembl ].
VAR_064301
Natural varianti388 – 3881Y → H in GEFS+2. 1 Publication
Corresponds to variant rs121918781 [ dbSNP | Ensembl ].
VAR_064241
Natural varianti393 – 3931R → C in EIEE6; also in a patient with myoclonic astatic epilepsy.
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_043355
Natural varianti393 – 3931R → H in EIEE6.
Corresponds to variant rs121917927 [ dbSNP | Ensembl ].
VAR_029672
Natural varianti393 – 3931R → S in EIEE6.
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_064302
Natural varianti395 – 3951A → P Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. 1 Publication
Corresponds to variant rs121917988 [ dbSNP | Ensembl ].
VAR_043356
Natural varianti403 – 4031F → L in EIEE6.
Corresponds to variant rs121917966 [ dbSNP | Ensembl ].
VAR_064303
Natural varianti406 – 4061V → F in EIEE6.
Corresponds to variant rs121918768 [ dbSNP | Ensembl ].
VAR_064242
Natural varianti413 – 4131Y → N in EIEE6.
Corresponds to variant rs121917967 [ dbSNP | Ensembl ].
VAR_064243
Natural varianti422 – 4221V → E Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. 1 Publication
Corresponds to variant rs121917989 [ dbSNP | Ensembl ].
VAR_043357
Natural varianti426 – 4261Y → N in EIEE6.
Corresponds to variant rs121917940 [ dbSNP | Ensembl ].
VAR_029673
Natural varianti542 – 5421R → Q Associated with autism. 1 Publication
Corresponds to variant rs121918817 [ dbSNP | Ensembl ].
VAR_029674
Natural varianti604 – 6041R → H in EIEE6.
Corresponds to variant rs121918769 [ dbSNP | Ensembl ].
VAR_064244
Natural varianti626 – 6261S → G in a patient with cryptogenic generalized epilepsy; unknown pathological significance. 1 Publication
Corresponds to variant rs121917990 [ dbSNP | Ensembl ].
VAR_043358
Natural varianti783 – 7831L → P in EIEE6.
Corresponds to variant rs121917968 [ dbSNP | Ensembl ].
VAR_064245
Natural varianti790 – 7901Y → C in GEFS+2. 1 Publication
Corresponds to variant rs121918782 [ dbSNP | Ensembl ].
VAR_029675
Natural varianti808 – 8081T → S in ICEGTC. 1 Publication
Corresponds to variant rs121918758 [ dbSNP | Ensembl ].
VAR_029676
Natural varianti812 – 8121T → R in EIEE6.
Corresponds to variant rs121917941 [ dbSNP | Ensembl ].
VAR_064304
Natural varianti846 – 8461E → K in EIEE6.
Corresponds to variant rs121917942 [ dbSNP | Ensembl ].
VAR_064305
Natural varianti859 – 8591R → C in GEFS+2; 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. 1 Publication
Corresponds to variant rs121918784 [ dbSNP | Ensembl ].
VAR_064306
Natural varianti862 – 8621R → Q in EIEE6.
Corresponds to variant rs121918785 [ dbSNP | Ensembl ].
VAR_064246
Natural varianti875 – 8751T → K in EIEE6.
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_064247
Natural varianti875 – 8751T → M in GEFS+2. 1 Publication
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_010110
Natural varianti902 – 9021F → C in EIEE6.
Corresponds to variant rs121918787 [ dbSNP | Ensembl ].
VAR_029677
Natural varianti931 – 9311R → C in EIEE6.
Corresponds to variant rs121918788 [ dbSNP | Ensembl ].
VAR_029678
Natural varianti934 – 9341M → I in EIEE6.
Corresponds to variant rs121918774 [ dbSNP | Ensembl ].
VAR_029679
Natural varianti939 – 9391H → Q in EIEE6.
Corresponds to variant rs121918795 [ dbSNP | Ensembl ].
VAR_029680
Natural varianti939 – 9391H → Y in EIEE6.
Corresponds to variant rs121918736 [ dbSNP | Ensembl ].
VAR_064248
Natural varianti942 – 9421L → P in EIEE6.
Corresponds to variant rs121917943 [ dbSNP | Ensembl ].
VAR_064307
Natural varianti944 – 9441V → A in EIEE6.
Corresponds to variant rs121917969 [ dbSNP | Ensembl ].
VAR_029681
Natural varianti944 – 9441V → E in EIEE6.
VAR_064249
Natural varianti945 – 9451F → L in EIEE6.
Corresponds to variant rs121917970 [ dbSNP | Ensembl ].
VAR_064250
Natural varianti946 – 9461R → C in EIEE6.
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_029682
Natural varianti946 – 9461R → H in EIEE6.
Corresponds to variant rs121917971 [ dbSNP | Ensembl ].
VAR_029683
Natural varianti946 – 9461R → S in EIEE6.
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_057995
Natural varianti950 – 9501G → E in EIEE6.
Corresponds to variant rs121917972 [ dbSNP | Ensembl ].
VAR_064251
Natural varianti952 – 9521W → G in EIEE6.
Corresponds to variant rs121918737 [ dbSNP | Ensembl ].
VAR_064252
Natural varianti954 – 9541E → K in EIEE6.
Corresponds to variant rs121918786 [ dbSNP | Ensembl ].
VAR_064253
Natural varianti957 – 9571W → L in EIEE6.
Corresponds to variant rs121917917 [ dbSNP | Ensembl ].
VAR_064308
Natural varianti959 – 9591C → R in EIEE6.
Corresponds to variant rs121918796 [ dbSNP | Ensembl ].
VAR_029684
Natural varianti960 – 9601M → V in EIEE6.
Corresponds to variant rs121918750 [ dbSNP | Ensembl ].
VAR_029685
Natural varianti973 – 9731M → V in a patient with cryptogenic generalized epilepsy; uncertain pathological role. 1 Publication
Corresponds to variant rs121917991 [ dbSNP | Ensembl ].
VAR_043359
Natural varianti979 – 9791G → R in ICEGTC. 1 Publication
Corresponds to variant rs121918754 [ dbSNP | Ensembl ].
VAR_029686
Natural varianti983 – 9831V → A in ICEGTC. 1 Publication
Corresponds to variant rs121918756 [ dbSNP | Ensembl ].
VAR_029687
Natural varianti985 – 9851N → I in EIEE6.
Corresponds to variant rs121918747 [ dbSNP | Ensembl ].
VAR_029688
Natural varianti986 – 9861L → F in EIEE6; complete loss of function.
Corresponds to variant rs121918625 [ dbSNP | Ensembl ].
VAR_014268
Natural varianti1011 – 10111N → I in ICEGTC. 1 Publication
Corresponds to variant rs121918759 [ dbSNP | Ensembl ].
VAR_029689
Natural varianti1034 – 10341I → T Associated with autism. 1 Publication
Corresponds to variant rs121918818 [ dbSNP | Ensembl ].
VAR_029690
Natural varianti1038 – 10381F → L Associated with autism. 1 Publication
VAR_029691
Natural varianti1067 – 10671A → T.8 Publications
Corresponds to variant rs2298771 [ dbSNP | Ensembl ].
VAR_014269
Natural varianti1174 – 11741T → S in FHM3. 1 Publication
Corresponds to variant rs121918799 [ dbSNP | Ensembl ].
VAR_064309
Natural varianti1204 – 12041W → R in GEFS+2. 2 Publications
Corresponds to variant rs121917930 [ dbSNP | Ensembl ].
VAR_014270
Natural varianti1207 – 12071L → P in EIEE6.
Corresponds to variant rs121917963 [ dbSNP | Ensembl ].
VAR_043360
Natural varianti1210 – 12101T → K in EIEE6.
Corresponds to variant rs121918738 [ dbSNP | Ensembl ].
VAR_064254
Natural varianti1231 – 12311S → R in EIEE6.
Corresponds to variant rs121918746 [ dbSNP | Ensembl ].
VAR_029692
Natural varianti1231 – 12311S → T in EIEE6.
Corresponds to variant rs121918800 [ dbSNP | Ensembl ].
VAR_064310
Natural varianti1233 – 12331G → R in EIEE6.
Corresponds to variant rs121917911 [ dbSNP | Ensembl ].
VAR_029693
Natural varianti1238 – 12381E → D in EIEE6.
Corresponds to variant rs121917973 [ dbSNP | Ensembl ].
VAR_043361
Natural varianti1245 – 12451R → Q in EIEE6.
Corresponds to variant rs121917912 [ dbSNP | Ensembl ].
VAR_064311
Natural varianti1260 – 12601T → P in EIEE6.
Corresponds to variant rs121918739 [ dbSNP | Ensembl ].
VAR_064255
Natural varianti1263 – 12631F → L in EIEE6.
Corresponds to variant rs121918752 [ dbSNP | Ensembl ].
VAR_029694
Natural varianti1265 – 12651L → P in EIEE6.
Corresponds to variant rs121918794 [ dbSNP | Ensembl ].
VAR_029695
Natural varianti1270 – 12701K → T in GEFS+2. 1 Publication
Corresponds to variant rs121918626 [ dbSNP | Ensembl ].
VAR_014271
Natural varianti1287 – 12871L → P in EIEE6.
Corresponds to variant rs121918740 [ dbSNP | Ensembl ].
VAR_064256
Natural varianti1289 – 12891Missing in EIEE6.
VAR_029696
Natural varianti1308 – 13081E → D in EIEE6.
Corresponds to variant rs121917910 [ dbSNP | Ensembl ].
VAR_064257
Natural varianti1309 – 13091L → F in GEFS+2. 1 Publication
Corresponds to variant rs121918801 [ dbSNP | Ensembl ].
VAR_064258
Natural varianti1326 – 13261A → P in EIEE6.
Corresponds to variant rs121918803 [ dbSNP | Ensembl ].
VAR_029698
Natural varianti1335 – 13351V → M in EIEE6.
Corresponds to variant rs121917960 [ dbSNP | Ensembl ].
VAR_043362
Natural varianti1353 – 13531V → L in GEFS+2; complete loss of function. 2 Publications
Corresponds to variant rs121917954 [ dbSNP | Ensembl ].
VAR_014272
Natural varianti1355 – 13551L → P in EIEE6.
Corresponds to variant rs121918776 [ dbSNP | Ensembl ].
VAR_029697
Natural varianti1358 – 13581W → S in EIEE6.
Corresponds to variant rs121917961 [ dbSNP | Ensembl ].
VAR_043363
Natural varianti1366 – 13661V → I in GEFS+2 and ICEGTC. 1 Publication
Corresponds to variant rs121918805 [ dbSNP | Ensembl ].
VAR_043364
Natural varianti1367 – 13671N → K in EIEE6.
Corresponds to variant rs121918760 [ dbSNP | Ensembl ].
VAR_064259
Natural varianti1390 – 13901V → M in EIEE6; some patients have a borderline EIEE6 phenotype.
Corresponds to variant rs121917986 [ dbSNP | Ensembl ].
VAR_029699
Natural varianti1396 – 13961C → G in EIEE6; some patients have a borderline EIEE6 phenotype.
Corresponds to variant rs121917987 [ dbSNP | Ensembl ].
VAR_064260
Natural varianti1414 – 14141N → Y in EIEE6.
Corresponds to variant rs121917925 [ dbSNP | Ensembl ].
VAR_064312
Natural varianti1422 – 14221Y → C in EIEE6.
Corresponds to variant rs121917913 [ dbSNP | Ensembl ].
VAR_064313
Natural varianti1426 – 14261L → R in EIEE6.
Corresponds to variant rs121917944 [ dbSNP | Ensembl ].
VAR_064314
Natural varianti1428 – 14281V → A in GEFS+2. 1 Publication
Corresponds to variant rs121918627 [ dbSNP | Ensembl ].
VAR_029700
Natural varianti1433 – 14331G → E in EIEE6.
Corresponds to variant rs121918741 [ dbSNP | Ensembl ].
VAR_064261
Natural varianti1433 – 14331G → R in EIEE6.
Corresponds to variant rs121917908 [ dbSNP | Ensembl ].
VAR_064262
Natural varianti1434 – 14341W → R in EIEE6.
Corresponds to variant rs121918789 [ dbSNP | Ensembl ].
VAR_029701
Natural varianti1441 – 14411A → P in EIEE6.
Corresponds to variant rs121917974 [ dbSNP | Ensembl ].
VAR_064348
Natural varianti1450 – 14501Q → K in EIEE6.
Corresponds to variant rs121918806 [ dbSNP | Ensembl ].
VAR_064263
Natural varianti1450 – 14501Q → R in EIEE6.
Corresponds to variant rs121918790 [ dbSNP | Ensembl ].
VAR_029702
Natural varianti1451 – 14511P → L in EIEE6.
Corresponds to variant rs121917945 [ dbSNP | Ensembl ].
VAR_064315
Natural varianti1461 – 14611L → I in EIEE6.
Corresponds to variant rs121918772 [ dbSNP | Ensembl ].
VAR_029703
Natural varianti1462 – 14621Y → C in EIEE6.
Corresponds to variant rs121917962 [ dbSNP | Ensembl ].
VAR_043365
Natural varianti1463 – 14631F → S in EIEE6.
Corresponds to variant rs121917946 [ dbSNP | Ensembl ].
VAR_029704
Natural varianti1470 – 14701G → W in EIEE6.
Corresponds to variant rs121917924 [ dbSNP | Ensembl ].
VAR_064316
Natural varianti1475 – 14751L → S in EIEE6.
Corresponds to variant rs121917947 [ dbSNP | Ensembl ].
VAR_064317
Natural varianti1480 – 14801G → V Probable disease-associated mutation found in a patient with myoclonic astatic epilepsy. 1 Publication
Corresponds to variant rs121917996 [ dbSNP | Ensembl ].
VAR_043366
Natural varianti1489 – 14891Q → H in FHM3. 1 Publication
Corresponds to variant rs121918633 [ dbSNP | Ensembl ].
VAR_057996
Natural varianti1489 – 14891Q → K in FHM3. 1 Publication
Corresponds to variant rs121918628 [ dbSNP | Ensembl ].
VAR_025281
Natural varianti1499 – 14991F → L in FHM3. 1 Publication
Corresponds to variant rs121918632 [ dbSNP | Ensembl ].
VAR_057997
Natural varianti1514 – 15141L → S in EIEE6.
Corresponds to variant rs121918764 [ dbSNP | Ensembl ].
VAR_064264
Natural varianti1543 – 15431F → S in a patient with cryptogenic focal epilepsy. 1 Publication
Corresponds to variant rs121917992 [ dbSNP | Ensembl ].
VAR_043367
Natural varianti1545 – 15451I → V in EIEE6.
Corresponds to variant rs121917975 [ dbSNP | Ensembl ].
VAR_064265
Natural varianti1559 – 15591Missing in EIEE6.
VAR_029705
Natural varianti1575 – 15751R → C Detected in a patient with Rasmussen encephalitis. 1 Publication
Corresponds to variant rs121918807 [ dbSNP | Ensembl ].
VAR_064318
Natural varianti1586 – 15861G → E in EIEE6.
Corresponds to variant rs121918742 [ dbSNP | Ensembl ].
VAR_064266
Natural varianti1588 – 15881C → R in EIEE6.
Corresponds to variant rs121917919 [ dbSNP | Ensembl ].
VAR_064319
Natural varianti1596 – 15961R → C Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. 1 Publication
Corresponds to variant rs121917993 [ dbSNP | Ensembl ].
VAR_043368
Natural varianti1608 – 16081D → Y in EIEE6.
Corresponds to variant rs121917915 [ dbSNP | Ensembl ].
VAR_064320
Natural varianti1611 – 16111V → F in ICEGTC. 1 Publication
Corresponds to variant rs121918630 [ dbSNP | Ensembl ].
VAR_029706
Natural varianti1612 – 16121V → I in EIEE6.
Corresponds to variant rs121918808 [ dbSNP | Ensembl ].
VAR_064267
Natural varianti1630 – 16301V → M in EIEE6.
Corresponds to variant rs121917914 [ dbSNP | Ensembl ].
VAR_064321
Natural varianti1632 – 16321P → S in ICEGTC. 1 Publication
Corresponds to variant rs121918755 [ dbSNP | Ensembl ].
VAR_029707
Natural varianti1636 – 16361R → Q Probable disease-associated mutation found in a patient with Lennon-Gastaut syndrome. 2 Publications
Corresponds to variant rs121917995 [ dbSNP | Ensembl ].
VAR_043369
Natural varianti1637 – 16371V → E Detected in a child with febrile status epilepticus and liver failure. 1 Publication
Corresponds to variant rs121918810 [ dbSNP | Ensembl ].
VAR_064268
Natural varianti1645 – 16451R → Q in EIEE6.
Corresponds to variant rs121917976 [ dbSNP | Ensembl ].
VAR_064269
Natural varianti1648 – 16481R → C in EIEE6.
Corresponds to variant rs121918791 [ dbSNP | Ensembl ].
VAR_029708
Natural varianti1648 – 16481R → H in GEFS+2 and EIEE6.
Corresponds to variant rs121918622 [ dbSNP | Ensembl ].
VAR_010111
Natural varianti1649 – 16491L → Q in FHM3. 1 Publication
VAR_064322
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 varianti1657 – 16571R → H Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. 2 Publications
Corresponds to variant rs121917994 [ dbSNP | Ensembl ].
VAR_043370
Natural varianti1658 – 16581T → M in EIEE6.
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064270
Natural varianti1658 – 16581T → R in EIEE6.
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064323
Natural varianti1661 – 16611F → S in EIEE6.
Corresponds to variant rs121918797 [ dbSNP | Ensembl ].
VAR_029710
Natural varianti1664 – 16641M → K in EIEE6.
Corresponds to variant rs121918765 [ dbSNP | Ensembl ].
VAR_064271
Natural varianti1668 – 16681P → A in EIEE6.
Corresponds to variant rs121917948 [ dbSNP | Ensembl ].
VAR_029711
Natural varianti1674 – 16741G → R in EIEE6.
Corresponds to variant rs121918792 [ dbSNP | Ensembl ].
VAR_029712
Natural varianti1685 – 16851A → D in EIEE6.
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029714
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 varianti1692 – 16921F → S in EIEE6.
Corresponds to variant rs121918778 [ dbSNP | Ensembl ].
VAR_029716
Natural varianti1694 – 16941Y → C in EIEE6.
Corresponds to variant rs121918777 [ dbSNP | Ensembl ].
VAR_029713
Natural varianti1707 – 17071F → V in EIEE6.
Corresponds to variant rs121917977 [ dbSNP | Ensembl ].
VAR_064349
Natural varianti1709 – 17091T → I in ICEGTC. 1 Publication
Corresponds to variant rs121918629 [ dbSNP | Ensembl ].
VAR_029717
Natural varianti1713 – 17131S → N in EIEE6.
Corresponds to variant rs121918816 [ dbSNP | Ensembl ].
VAR_064325
Natural varianti1714 – 17141M → R in EIEE6.
Corresponds to variant rs121917949 [ dbSNP | Ensembl ].
VAR_064326
Natural varianti1716 – 17161C → R in EIEE6.
Corresponds to variant rs121917926 [ dbSNP | Ensembl ].
VAR_064327
Natural varianti1721 – 17211T → R in EIEE6.
Corresponds to variant rs121917978 [ dbSNP | Ensembl ].
VAR_064350
Natural varianti1726 – 17261W → R in EIEE6.
Corresponds to variant rs121917979 [ dbSNP | Ensembl ].
VAR_064272
Natural varianti1742 – 17421D → G in GEFS+2. 1 Publication
Corresponds to variant rs121918812 [ dbSNP | Ensembl ].
VAR_057998
Natural varianti1749 – 17491G → E in EIEE6.
Corresponds to variant rs121918798 [ dbSNP | Ensembl ].
VAR_029718
Natural varianti1756 – 17561C → G in EIEE6.
Corresponds to variant rs121918809 [ dbSNP | Ensembl ].
VAR_064273
Natural varianti1762 – 17621G → E in EIEE6.
Corresponds to variant rs121917950 [ dbSNP | Ensembl ].
VAR_064328
Natural varianti1766 – 17661Missing in EIEE6.
VAR_029719
Natural varianti1773 – 17731S → F in EIEE6.
Corresponds to variant rs121917951 [ dbSNP | Ensembl ].
VAR_064329
Natural varianti1780 – 17801M → T in EIEE6.
Corresponds to variant rs121917952 [ dbSNP | Ensembl ].
VAR_029720
Natural varianti1781 – 17811Y → C in EIEE6.
Corresponds to variant rs121918779 [ dbSNP | Ensembl ].
VAR_029721
Natural varianti1782 – 17821I → M in EIEE6.
Corresponds to variant rs121918763 [ dbSNP | Ensembl ].
VAR_064274
Natural varianti1783 – 17831A → T in EIEE6.
Corresponds to variant rs121917980 [ dbSNP | Ensembl ].
VAR_064275
Natural varianti1783 – 17831A → V in EIEE6.
Corresponds to variant rs121917921 [ dbSNP | Ensembl ].
VAR_064345
Natural varianti1787 – 17871E → K in EIEE6.
Corresponds to variant rs121917916 [