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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

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

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.18 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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. 1 Publication
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. 2 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. 1 Publication
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. 1 Publication
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.23 Publications
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. 1 Publication
Corresponds to variant rs121917907 [ dbSNP | Ensembl ].
VAR_064230
Natural varianti78 – 781E → D in EIEE6. 2 Publications
Corresponds to variant rs121917933 [ dbSNP | Ensembl ].
VAR_029660
Natural varianti79 – 791D → H in EIEE6; borderline phenotype. 1 Publication
Corresponds to variant rs121917982 [ dbSNP | Ensembl ].
VAR_064346
Natural varianti84 – 841Y → C in EIEE6. 2 Publications
Corresponds to variant rs121917964 [ dbSNP | Ensembl ].
VAR_043349
Natural varianti90 – 901F → S in EIEE6. 1 Publication
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 varianti101 – 1011R → Q in EIEE6. 4 Publications
Corresponds to variant rs121917918 [ dbSNP | Ensembl ].
VAR_029661
Natural varianti101 – 1011R → W in EIEE6. 2 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 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. 1 Publication
Corresponds to variant rs121918761 [ dbSNP | Ensembl ].
VAR_064234
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 varianti175 – 1751A → T in EIEE6. 1 Publication
Corresponds to variant rs121918767 [ dbSNP | Ensembl ].
VAR_064236
Natural varianti177 – 1771G → E in EIEE6. 1 Publication
Corresponds to variant rs121918770 [ dbSNP | Ensembl ].
VAR_029664
Natural varianti190 – 1901W → R in EIEE6. 1 Publication
Corresponds to variant rs121918773 [ dbSNP | Ensembl ].
VAR_029665
Natural varianti191 – 1911N → Y in EIEE6. 1 Publication
Corresponds to variant rs121918762 [ dbSNP | Ensembl ].
VAR_064237
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. 1 Publication
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 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 varianti227 – 2271I → S in EIEE6. 3 Publications
Corresponds to variant rs121917937 [ dbSNP | Ensembl ].
VAR_029666
Natural varianti239 – 2391A → T in EIEE6. 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 varianti252 – 2521I → N in EIEE6. 1 Publication
Corresponds to variant rs121918780 [ dbSNP | Ensembl ].
VAR_029667
Natural varianti259 – 2591S → R in EIEE6. 1 Publication
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 varianti280 – 2801W → R in EIEE6. 2 Publications
Corresponds to variant rs121917938 [ dbSNP | Ensembl ].
VAR_029669
Natural varianti297 – 2971T → I in EIEE6. 1 Publication
Corresponds to variant rs121918771 [ dbSNP | Ensembl ].
VAR_029670
Natural varianti322 – 3221R → I in EIEE6. 1 Publication
Corresponds to variant rs121917928 [ dbSNP | Ensembl ].
VAR_064298
Natural varianti343 – 3431G → D in EIEE6. 1 Publication
Corresponds to variant rs121918753 [ dbSNP | Ensembl ].
VAR_029671
Natural varianti356 – 3561R → G in EIEE6. 1 Publication
Corresponds to variant rs121917920 [ dbSNP | Ensembl ].
VAR_064299
Natural varianti358 – 3581P → T in EIEE6. 1 Publication
Corresponds to variant rs121917923 [ dbSNP | Ensembl ].
VAR_064300
Natural varianti366 – 3661D → E in EIEE6. 1 Publication
Corresponds to variant rs121917958 [ dbSNP | Ensembl ].
VAR_043353
Natural varianti383 – 3831F → L in EIEE6. 1 Publication
Corresponds to variant rs121917939 [ dbSNP | Ensembl ].
VAR_064301
Natural varianti393 – 3931R → C in EIEE6; also in a patient with myoclonic astatic epilepsy. 3 Publications
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_043355
Natural varianti393 – 3931R → H in EIEE6. 3 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 varianti403 – 4031F → L in EIEE6. 2 Publications
Corresponds to variant rs121917966 [ dbSNP | Ensembl ].
VAR_064303
Natural varianti406 – 4061V → F in EIEE6. 1 Publication
Corresponds to variant rs121918768 [ dbSNP | Ensembl ].
VAR_064242
Natural varianti413 – 4131Y → N in EIEE6. 3 Publications
Corresponds to variant rs121917967 [ dbSNP | Ensembl ].
VAR_064243
Natural varianti426 – 4261Y → N in EIEE6. 2 Publications
Corresponds to variant rs121917940 [ dbSNP | Ensembl ].
VAR_029673
Natural varianti604 – 6041R → H in EIEE6. 1 Publication
Corresponds to variant rs121918769 [ dbSNP | Ensembl ].
VAR_064244
Natural varianti783 – 7831L → P in EIEE6. 2 Publications
Corresponds to variant rs121917968 [ dbSNP | Ensembl ].
VAR_064245
Natural varianti812 – 8121T → R in EIEE6. 1 Publication
Corresponds to variant rs121917941 [ dbSNP | Ensembl ].
VAR_064304
Natural varianti846 – 8461E → K in EIEE6. 1 Publication
Corresponds to variant rs121917942 [ dbSNP | Ensembl ].
VAR_064305
Natural varianti862 – 8621R → Q in EIEE6. 1 Publication
Corresponds to variant rs121918785 [ dbSNP | Ensembl ].
VAR_064246
Natural varianti875 – 8751T → K in EIEE6. 1 Publication
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_064247
Natural varianti902 – 9021F → C in EIEE6. 1 Publication
Corresponds to variant rs121918787 [ dbSNP | Ensembl ].
VAR_029677
Natural varianti931 – 9311R → C in EIEE6. 1 Publication
Corresponds to variant rs121918788 [ dbSNP | Ensembl ].
VAR_029678
Natural varianti934 – 9341M → I in EIEE6. 1 Publication
Corresponds to variant rs121918774 [ dbSNP | Ensembl ].
VAR_029679
Natural varianti939 – 9391H → Q in EIEE6. 1 Publication
Corresponds to variant rs121918795 [ dbSNP | Ensembl ].
VAR_029680
Natural varianti939 – 9391H → Y in EIEE6. 1 Publication
Corresponds to variant rs121918736 [ dbSNP | Ensembl ].
VAR_064248
Natural varianti942 – 9421L → P in EIEE6. 1 Publication
Corresponds to variant rs121917943 [ dbSNP | Ensembl ].
VAR_064307
Natural varianti944 – 9441V → A in EIEE6. 1 Publication
Corresponds to variant rs121917969 [ dbSNP | Ensembl ].
VAR_029681
Natural varianti944 – 9441V → E in EIEE6. 2 Publications
VAR_064249
Natural varianti945 – 9451F → L in EIEE6. 2 Publications
Corresponds to variant rs121917970 [ dbSNP | Ensembl ].
VAR_064250
Natural varianti946 – 9461R → C in EIEE6. 1 Publication
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_029682
Natural varianti946 – 9461R → H in EIEE6. 3 Publications
Corresponds to variant rs121917971 [ dbSNP | Ensembl ].
VAR_029683
Natural varianti946 – 9461R → S in EIEE6. 1 Publication
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_057995
Natural varianti950 – 9501G → E in EIEE6. 2 Publications
Corresponds to variant rs121917972 [ dbSNP | Ensembl ].
VAR_064251
Natural varianti952 – 9521W → G in EIEE6. 1 Publication
Corresponds to variant rs121918737 [ dbSNP | Ensembl ].
VAR_064252
Natural varianti954 – 9541E → K in EIEE6. 1 Publication
Corresponds to variant rs121918786 [ dbSNP | Ensembl ].
VAR_064253
Natural varianti957 – 9571W → L in EIEE6. 1 Publication
Corresponds to variant rs121917917 [ dbSNP | Ensembl ].
VAR_064308
Natural varianti959 – 9591C → R in EIEE6. 1 Publication
Corresponds to variant rs121918796 [ dbSNP | Ensembl ].
VAR_029684
Natural varianti960 – 9601M → V in EIEE6. 1 Publication
Corresponds to variant rs121918750 [ dbSNP | Ensembl ].
VAR_029685
Natural varianti985 – 9851N → I in EIEE6. 1 Publication
Corresponds to variant rs121918747 [ dbSNP | Ensembl ].
VAR_029688
Natural varianti986 – 9861L → F in EIEE6; complete loss of function. 1 Publication
Corresponds to variant rs121918625 [ dbSNP | Ensembl ].
VAR_014268
Natural varianti1207 – 12071L → P in EIEE6. 1 Publication
Corresponds to variant rs121917963 [ dbSNP | Ensembl ].
VAR_043360
Natural varianti1210 – 12101T → K in EIEE6. 1 Publication
Corresponds to variant rs121918738 [ dbSNP | Ensembl ].
VAR_064254
Natural varianti1231 – 12311S → R in EIEE6. 1 Publication
Corresponds to variant rs121918746 [ dbSNP | Ensembl ].
VAR_029692
Natural varianti1231 – 12311S → T in EIEE6. 1 Publication
Corresponds to variant rs121918800 [ dbSNP | Ensembl ].
VAR_064310
Natural varianti1233 – 12331G → R in EIEE6. 2 Publications
Corresponds to variant rs121917911 [ dbSNP | Ensembl ].
VAR_029693
Natural varianti1238 – 12381E → D in EIEE6. 2 Publications
Corresponds to variant rs121917973 [ dbSNP | Ensembl ].
VAR_043361
Natural varianti1245 – 12451R → Q in EIEE6. 1 Publication
Corresponds to variant rs121917912 [ dbSNP | Ensembl ].
VAR_064311
Natural varianti1260 – 12601T → P in EIEE6. 1 Publication
Corresponds to variant rs121918739 [ dbSNP | Ensembl ].
VAR_064255
Natural varianti1263 – 12631F → L in EIEE6. 1 Publication
Corresponds to variant rs121918752 [ dbSNP | Ensembl ].
VAR_029694
Natural varianti1265 – 12651L → P in EIEE6. 1 Publication
Corresponds to variant rs121918794 [ dbSNP | Ensembl ].
VAR_029695
Natural varianti1287 – 12871L → P in EIEE6. 1 Publication
Corresponds to variant rs121918740 [ dbSNP | Ensembl ].
VAR_064256
Natural varianti1289 – 12891Missing in EIEE6. 1 Publication
VAR_029696
Natural varianti1308 – 13081E → D in EIEE6. 1 Publication
Corresponds to variant rs121917910 [ dbSNP | Ensembl ].
VAR_064257
Natural varianti1326 – 13261A → P in EIEE6. 1 Publication
Corresponds to variant rs121918803 [ dbSNP | Ensembl ].
VAR_029698
Natural varianti1335 – 13351V → M in EIEE6. 2 Publications
Corresponds to variant rs121917960 [ dbSNP | Ensembl ].
VAR_043362
Natural varianti1355 – 13551L → P in EIEE6. 1 Publication
Corresponds to variant rs121918776 [ dbSNP | Ensembl ].
VAR_029697
Natural varianti1358 – 13581W → S in EIEE6. 1 Publication
Corresponds to variant rs121917961 [ dbSNP | Ensembl ].
VAR_043363
Natural varianti1367 – 13671N → K in EIEE6. 1 Publication
Corresponds to variant rs121918760 [ dbSNP | Ensembl ].
VAR_064259
Natural varianti1390 – 13901V → M in EIEE6; some patients have a borderline EIEE6 phenotype. 3 Publications
Corresponds to variant rs121917986 [ dbSNP | Ensembl ].
VAR_029699
Natural varianti1396 – 13961C → G in EIEE6; some patients have a borderline EIEE6 phenotype. 3 Publications
Corresponds to variant rs121917987 [ dbSNP | Ensembl ].
VAR_064260
Natural varianti1414 – 14141N → Y in EIEE6. 1 Publication
Corresponds to variant rs121917925 [ dbSNP | Ensembl ].
VAR_064312
Natural varianti1422 – 14221Y → C in EIEE6. 1 Publication
Corresponds to variant rs121917913 [ dbSNP | Ensembl ].
VAR_064313
Natural varianti1426 – 14261L → R in EIEE6. 1 Publication
Corresponds to variant rs121917944 [ dbSNP | Ensembl ].
VAR_064314
Natural varianti1433 – 14331G → E in EIEE6. 1 Publication
Corresponds to variant rs121918741 [ dbSNP | Ensembl ].
VAR_064261
Natural varianti1433 – 14331G → R in EIEE6. 1 Publication
Corresponds to variant rs121917908 [ dbSNP | Ensembl ].
VAR_064262
Natural varianti1434 – 14341W → R in EIEE6. 2 Publications
Corresponds to variant rs121918789 [ dbSNP | Ensembl ].
VAR_029701
Natural varianti1441 – 14411A → P in EIEE6. 1 Publication
Corresponds to variant rs121917974 [ dbSNP | Ensembl ].
VAR_064348
Natural varianti1450 – 14501Q → K in EIEE6. 1 Publication
Corresponds to variant rs121918806 [ dbSNP | Ensembl ].
VAR_064263
Natural varianti1450 – 14501Q → R in EIEE6. 1 Publication
Corresponds to variant rs121918790 [ dbSNP | Ensembl ].
VAR_029702
Natural varianti1451 – 14511P → L in EIEE6. 1 Publication
Corresponds to variant rs121917945 [ dbSNP | Ensembl ].
VAR_064315
Natural varianti1461 – 14611L → I in EIEE6. 1 Publication
Corresponds to variant rs121918772 [ dbSNP | Ensembl ].
VAR_029703
Natural varianti1462 – 14621Y → C in EIEE6. 1 Publication
Corresponds to variant rs121917962 [ dbSNP | Ensembl ].
VAR_043365
Natural varianti1463 – 14631F → S in EIEE6. 2 Publications
Corresponds to variant rs121917946 [ dbSNP | Ensembl ].
VAR_029704
Natural varianti1470 – 14701G → W in EIEE6. 1 Publication
Corresponds to variant rs121917924 [ dbSNP | Ensembl ].
VAR_064316
Natural varianti1475 – 14751L → S in EIEE6. 1 Publication
Corresponds to variant rs121917947 [ dbSNP | Ensembl ].
VAR_064317
Natural varianti1514 – 15141L → S in EIEE6. 1 Publication
Corresponds to variant rs121918764 [ dbSNP | Ensembl ].
VAR_064264
Natural varianti1545 – 15451I → V in EIEE6. 2 Publications
Corresponds to variant rs121917975 [ dbSNP | Ensembl ].
VAR_064265
Natural varianti1559 – 15591Missing in EIEE6. 1 Publication
VAR_029705
Natural varianti1586 – 15861G → E in EIEE6. 1 Publication
Corresponds to variant rs121918742 [ dbSNP | Ensembl ].
VAR_064266
Natural varianti1588 – 15881C → R in EIEE6. 1 Publication
Corresponds to variant rs121917919 [ dbSNP | Ensembl ].
VAR_064319
Natural varianti1608 – 16081D → Y in EIEE6. 1 Publication
Corresponds to variant rs121917915 [ dbSNP | Ensembl ].
VAR_064320
Natural varianti1612 – 16121V → I in EIEE6. 2 Publications
Corresponds to variant rs121918808 [ dbSNP | Ensembl ].
VAR_064267
Natural varianti1630 – 16301V → M in EIEE6. 1 Publication
Corresponds to variant rs121917914 [ dbSNP | Ensembl ].
VAR_064321
Natural varianti1645 – 16451R → Q in EIEE6. 3 Publications
Corresponds to variant rs121917976 [ dbSNP | Ensembl ].
VAR_064269
Natural varianti1648 – 16481R → C in EIEE6. 1 Publication
Corresponds to variant rs121918791 [ dbSNP | Ensembl ].
VAR_029708
Natural varianti1648 – 16481R → H in GEFS+2 and EIEE6. 2 Publications
Corresponds to variant rs121918622 [ dbSNP | Ensembl ].
VAR_010111
Natural varianti1658 – 16581T → M in EIEE6. 1 Publication
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064270
Natural varianti1658 – 16581T → R in EIEE6. 1 Publication
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064323
Natural varianti1661 – 16611F → S in EIEE6. 1 Publication
Corresponds to variant rs121918797 [ dbSNP | Ensembl ].
VAR_029710
Natural varianti1664 – 16641M → K in EIEE6. 1 Publication
Corresponds to variant rs121918765 [ dbSNP | Ensembl ].
VAR_064271
Natural varianti1668 – 16681P → A in EIEE6. 2 Publications
Corresponds to variant rs121917948 [ dbSNP | Ensembl ].
VAR_029711
Natural varianti1674 – 16741G → R in EIEE6. 1 Publication
Corresponds to variant rs121918792 [ dbSNP | Ensembl ].
VAR_029712
Natural varianti1685 – 16851A → D in EIEE6. 1 Publication
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029714
Natural varianti1692 – 16921F → S in EIEE6. 1 Publication
Corresponds to variant rs121918778 [ dbSNP | Ensembl ].
VAR_029716
Natural varianti1694 – 16941Y → C in EIEE6. 1 Publication
Corresponds to variant rs121918777 [ dbSNP | Ensembl ].
VAR_029713
Natural varianti1707 – 17071F → V in EIEE6. 1 Publication
Corresponds to variant rs121917977 [ dbSNP | Ensembl ].
VAR_064349
Natural varianti1713 – 17131S → N in EIEE6. 1 Publication
Corresponds to variant rs121918816 [ dbSNP | Ensembl ].
VAR_064325
Natural varianti1714 – 17141M → R in EIEE6. 1 Publication
Corresponds to variant rs121917949 [ dbSNP | Ensembl ].
VAR_064326
Natural varianti1716 – 17161C → R in EIEE6. 1 Publication
Corresponds to variant rs121917926 [ dbSNP | Ensembl ].
VAR_064327
Natural varianti1721 – 17211T → R in EIEE6. 1 Publication
Corresponds to variant rs121917978 [ dbSNP | Ensembl ].
VAR_064350
Natural varianti1726 – 17261W → R in EIEE6. 1 Publication
Corresponds to variant rs121917979 [ dbSNP | Ensembl ].
VAR_064272
Natural varianti1749 – 17491G → E in EIEE6. 1 Publication
Corresponds to variant rs121918798 [ dbSNP | Ensembl ].
VAR_029718
Natural varianti1756 – 17561C → G in EIEE6. 2 Publications
Corresponds to variant rs121918809 [ dbSNP | Ensembl ].
VAR_064273
Natural varianti1762 – 17621G → E in EIEE6. 1 Publication
Corresponds to variant rs121917950 [ dbSNP | Ensembl ].
VAR_064328
Natural varianti1766 – 17661Missing in EIEE6. 1 Publication
VAR_029719
Natural varianti1773 – 17731S → F in EIEE6. 1 Publication
Corresponds to variant rs121917951 [ dbSNP | Ensembl ].
VAR_064329
Natural varianti1780 – 17801M → T in EIEE6. 2 Publications
Corresponds to variant rs121917952 [ dbSNP | Ensembl ].
VAR_029720
Natural varianti1781 – 17811Y → C in EIEE6. 1 Publication
Corresponds to variant rs121918779 [ dbSNP | Ensembl ].
VAR_029721
Natural varianti1782 – 17821I → M in EIEE6. 1 Publication
Corresponds to variant rs121918763 [ dbSNP | Ensembl ].
VAR_064274
Natural varianti1783 – 17831A → T in EIEE6. 2 Publications
Corresponds to variant rs121917980 [ dbSNP | Ensembl ].
VAR_064275
Natural varianti1783 – 17831A → V in EIEE6. 1 Publication
Corresponds to variant rs121917921 [ dbSNP | Ensembl ].
VAR_064345
Natural varianti1787 – 17871E → K in EIEE6. 1 Publication
Corresponds to variant rs121917916 [ dbSNP | Ensembl ].
VAR_064330
Natural varianti1807 – 18104Missing in EIEE6. 1 Publication
VAR_029722
Natural varianti1812 – 18154WEKF → C in EIEE6.
VAR_029725
Natural varianti1812 – 18121W → G in EIEE6. 1 Publication
Corresponds to variant rs121918751 [ dbSNP | Ensembl ].
VAR_029724
Natural varianti1831 – 18311F → S in EIEE6. 1 Publication
Corresponds to variant rs121918748 [ dbSNP | Ensembl ].
VAR_029726
Natural varianti1881 – 18811E → D in EIEE6. 1 Publication
Corresponds to variant rs121918804 [ dbSNP | Ensembl ].
VAR_029728
Natural varianti1909 – 19091T → I in EIEE6. 1 Publication
Corresponds to variant rs121918793 [ dbSNP | Ensembl ].
VAR_029729
Natural varianti1922 – 19221I → T in EIEE6. 1 Publication
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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