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P35498

- SCN1A_HUMAN

UniProt

P35498 - SCN1A_HUMAN

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
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    • History
      Entry version 160 (01 Oct 2014)
      Sequence version 2 (08 Dec 2000)
      Previous versions | rss
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    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

    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

    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.
    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
    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.1 Publication