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Protein

Sodium channel protein type 1 subunit alpha

Gene

SCN1A

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

Functioni

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli.By similarity

Enzyme regulationi

Inactivation of this channel is specifically inhibited by the spider toxins Hm1a and Hm1b (H.maculata, AC P60992 and AC P0DOC5) in somatosensory neurons to elicit acute pain and mechanical allodynia.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10585. SCN1A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 128CytoplasmicCuratedAdd BLAST128
Transmembranei129 – 147Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini148 – 154ExtracellularCurated7
Transmembranei155 – 175Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini176 – 189CytoplasmicCuratedAdd BLAST14
Transmembranei190 – 207Helical; Name=S3 of repeat IBy similarityAdd BLAST18
Topological domaini208 – 213ExtracellularCurated6
Transmembranei214 – 230Helical; Name=S4 of repeat IBy similarityAdd BLAST17
Topological domaini231 – 249CytoplasmicCuratedAdd BLAST19
Transmembranei250 – 269Helical; Name=S5 of repeat IBy similarityAdd BLAST20
Topological domaini270 – 367ExtracellularCuratedAdd BLAST98
Intramembranei368 – 392Pore-formingBy similarityAdd BLAST25
Topological domaini393 – 399ExtracellularCurated7
Transmembranei400 – 420Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini421 – 768CytoplasmicCuratedAdd BLAST348
Transmembranei769 – 787Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini788 – 798ExtracellularCuratedAdd BLAST11
Transmembranei799 – 818Helical; Name=S2 of repeat IIBy similarityAdd BLAST20
Topological domaini819 – 832CytoplasmicCuratedAdd BLAST14
Transmembranei833 – 852Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini853 – 854ExtracellularCurated2
Transmembranei855 – 872Helical; Name=S4 of repeat IIBy similarityAdd BLAST18
Topological domaini873 – 888CytoplasmicCuratedAdd BLAST16
Transmembranei889 – 907Helical; Name=S5 of repeat IIBy similarityAdd BLAST19
Topological domaini908 – 936ExtracellularCuratedAdd BLAST29
Intramembranei937 – 957Pore-formingBy similarityAdd BLAST21
Topological domaini958 – 970ExtracellularCuratedAdd BLAST13
Transmembranei971 – 991Helical; Name=S6 of repeat IIBy similarityAdd BLAST21
Topological domaini992 – 1219CytoplasmicCuratedAdd BLAST228
Transmembranei1220 – 1237Helical; Name=S1 of repeat IIIBy similarityAdd BLAST18
Topological domaini1238 – 1250ExtracellularCuratedAdd BLAST13
Transmembranei1251 – 1269Helical; Name=S2 of repeat IIIBy similarityAdd BLAST19
Topological domaini1270 – 1283CytoplasmicCuratedAdd BLAST14
Transmembranei1284 – 1302Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1303 – 1310ExtracellularCurated8
Transmembranei1311 – 1329Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1330 – 1346CytoplasmicCuratedAdd BLAST17
Transmembranei1347 – 1366Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1367 – 1418ExtracellularCuratedAdd BLAST52
Intramembranei1419 – 1440Pore-formingBy similarityAdd BLAST22
Topological domaini1441 – 1457ExtracellularCuratedAdd BLAST17
Transmembranei1458 – 1479Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1480 – 1542CytoplasmicCuratedAdd BLAST63
Transmembranei1543 – 1560Helical; Name=S1 of repeat IVBy similarityAdd BLAST18
Topological domaini1561 – 1571ExtracellularCuratedAdd BLAST11
Transmembranei1572 – 1590Helical; Name=S2 of repeat IVBy similarityAdd BLAST19
Topological domaini1591 – 1602CytoplasmicCuratedAdd BLAST12
Transmembranei1603 – 1620Helical; Name=S3 of repeat IVBy similarityAdd BLAST18
Topological domaini1621 – 1633ExtracellularCuratedAdd BLAST13
Transmembranei1634 – 1650Helical; Name=S4 of repeat IVBy similarityAdd BLAST17
Topological domaini1651 – 1669CytoplasmicCuratedAdd BLAST19
Transmembranei1670 – 1687Helical; Name=S5 of repeat IVBy similarityAdd BLAST18
Topological domaini1688 – 1709ExtracellularCuratedAdd BLAST22
Intramembranei1710 – 1732Pore-formingBy similarityAdd BLAST23
Topological domaini1733 – 1762ExtracellularCuratedAdd BLAST30
Transmembranei1763 – 1785Helical; Name=S6 of repeat IVBy similarityAdd BLAST23
Topological domaini1786 – 2009CytoplasmicCuratedAdd BLAST224

GO - Cellular componenti

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 2 (GEFS+2)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
See also OMIM:604403
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06422927R → T in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121917906Ensembl.1
Natural variantiVAR_06429574S → P in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121917931Ensembl.1
Natural variantiVAR_014267188D → V in GEFS+2; results in increased membrane excitability as suggested by increased resistance to cumulative inactivation during high frequency activation. 2 PublicationsCorresponds to variant dbSNP:rs121917953Ensembl.1
Natural variantiVAR_073457218F → L in GEFS+2; also found in patients with Panayiotopoulos syndrome. 2 Publications1
Natural variantiVAR_073465254T → I in GEFS+2. 1 Publication1
Natural variantiVAR_073472291S → G in GEFS+2. 1 Publication1
Natural variantiVAR_043354377R → Q in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121917957Ensembl.1
Natural variantiVAR_064241388Y → H in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918781Ensembl.1
Natural variantiVAR_029675790Y → C in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918782Ensembl.1
Natural variantiVAR_064306859R → C in GEFS+2 and EIEE6; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel. 3 PublicationsCorresponds to variant dbSNP:rs121918784Ensembl.1
Natural variantiVAR_073501859R → H in GEFS+2; results in impaired channel fast inactivation and significantly increased persistent current. 1 PublicationCorresponds to variant dbSNP:rs398123588Ensembl.1
Natural variantiVAR_010110875T → M in GEFS+2 and EIEE6; borderline phenotype. 2 PublicationsCorresponds to variant dbSNP:rs121918623Ensembl.1
Natural variantiVAR_073508899I → T in GEFS+2. 1 Publication1
Natural variantiVAR_073514935N → H in GEFS+2. 1 Publication1
Natural variantiVAR_029683946R → H in EIEE6 and GEFS+2; GEFS+2 phenotype consists of partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs; loss-of-function mutation resulting in complete absence of sodium current. 7 PublicationsCorresponds to variant dbSNP:rs121917971Ensembl.1
Natural variantiVAR_073522960M → T in GEFS+2. 1 Publication1
Natural variantiVAR_043359973M → V in GEFS+2. 2 PublicationsCorresponds to variant dbSNP:rs121917991Ensembl.1
Natural variantiVAR_073524976M → I in EIEE6 and GEFS+2. 2 Publications1
Natural variantiVAR_073525978I → M in GEFS+2; unknown pathological significance. 1 Publication1
Natural variantiVAR_0142701204W → R in GEFS+2; causes hyperpolarized shifts in the voltage dependence of activation and steady-state inactivation. 3 PublicationsCorresponds to variant dbSNP:rs121917930Ensembl.1
Natural variantiVAR_0735361204W → S in GEFS+2. 1 Publication1
Natural variantiVAR_0735401230L → F in EIEE6 and GEFS+2. 1 Publication1
Natural variantiVAR_0735431249K → N in GEFS+2. 1 Publication1
Natural variantiVAR_0735441250T → M in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs140731963Ensembl.1
Natural variantiVAR_0142711270K → T in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918626Ensembl.1
Natural variantiVAR_0642581309L → F in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918801Ensembl.1
Natural variantiVAR_0142721353V → L in GEFS+2; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs121917954Ensembl.1
Natural variantiVAR_0433641366V → I in GEFS+2 and ICEGTC. 1 PublicationCorresponds to variant dbSNP:rs121918805Ensembl.1
Natural variantiVAR_0735711414N → D in GEFS+2. 1 Publication1
Natural variantiVAR_0297001428V → A in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918627Ensembl.1
Natural variantiVAR_0736041596R → H in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs575368466Ensembl.1
Natural variantiVAR_0101111648R → H in GEFS+2 and EIEE6. 3 PublicationsCorresponds to variant dbSNP:rs121918622Ensembl.1
Natural variantiVAR_0142731656I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. 2 PublicationsCorresponds to variant dbSNP:rs121917955Ensembl.1
Natural variantiVAR_0297091657R → 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 PublicationCorresponds to variant dbSNP:rs121918811Ensembl.1
Natural variantiVAR_0297151685A → V in GEFS+2; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs121918744Ensembl.1
Natural variantiVAR_0643241687F → S in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121917932Ensembl.1
Natural variantiVAR_0736321739P → L in GEFS+2. 1 Publication1
Natural variantiVAR_0579981742D → G in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918812Ensembl.1
Natural variantiVAR_0736351765F → L in GEFS+2; disease phenotype consists of partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs; loss-of-function mutation resulting in complete absence of sodium current. 1 Publication1
Natural variantiVAR_0642761795E → K in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918813Ensembl.1
Natural variantiVAR_0297271852M → T in GEFS+2; loss of function; defective trafficking to cell membrane and no inhibition of its interaction with SCN1B. 2 PublicationsCorresponds to variant dbSNP:rs121918783Ensembl.1
Natural variantiVAR_0579991857V → L in GEFS+2. 1 PublicationCorresponds to variant dbSNP:rs121918814Ensembl.1
Natural variantiVAR_0580001866D → 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; causes delay in the kinetics of inactivation and significantly reduces interaction with SCN1B. 1 PublicationCorresponds to variant dbSNP:rs121918815Ensembl.1
Natural variantiVAR_0736531867I → T in GEFS+2. 2 Publications1
Epileptic encephalopathy, early infantile, 6 (EIEE6)36 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core EIEE6. EIEE6 is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.
See also OMIM:607208
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07344117Missing in EIEE6. 1 Publication1
Natural variantiVAR_07344358G → V in EIEE6. 1 Publication1
Natural variantiVAR_07344461L → F in EIEE6. 1 Publication1
Natural variantiVAR_06423063F → L in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917907Ensembl.1
Natural variantiVAR_07344568I → T in EIEE6; borderline phenotype. 1 PublicationCorresponds to variant dbSNP:rs758871507Ensembl.1
Natural variantiVAR_02966078E → D in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121917933Ensembl.1
Natural variantiVAR_06434679D → H in EIEE6; borderline phenotype. 2 PublicationsCorresponds to variant dbSNP:rs121917982Ensembl.1
Natural variantiVAR_07344679D → N in EIEE6. 1 Publication1
Natural variantiVAR_04334984Y → C in EIEE6. 5 PublicationsCorresponds to variant dbSNP:rs121917964Ensembl.1
Natural variantiVAR_06423190F → S in EIEE6 and ICEGTC. 2 PublicationsCorresponds to variant dbSNP:rs121918733Ensembl.1
Natural variantiVAR_06423291I → T in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918734Ensembl.1
Natural variantiVAR_07344798A → P in EIEE6. 1 Publication1
Natural variantiVAR_029661101R → Q in EIEE6 and ICEGTC. 7 PublicationsCorresponds to variant dbSNP:rs121917918Ensembl.1
Natural variantiVAR_064233101R → W in EIEE6. 5 PublicationsCorresponds to variant dbSNP:rs121917965Ensembl.1
Natural variantiVAR_029662103S → G in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918743Ensembl.1
Natural variantiVAR_073448105T → I in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs796053089Ensembl.1
Natural variantiVAR_073449108L → R in EIEE6. 1 Publication1
Natural variantiVAR_029663112T → I in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918745Ensembl.1
Natural variantiVAR_043350118R → S in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917959Ensembl.1
Natural variantiVAR_064234124I → N in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121918761Ensembl.1
Natural variantiVAR_073450127H → D in EIEE6; borderline phenotype. 1 PublicationCorresponds to variant dbSNP:rs148442069Ensembl.1
Natural variantiVAR_064296162T → P in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917934Ensembl.1
Natural variantiVAR_064235171I → K in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918766Ensembl.1
Natural variantiVAR_073451171I → R in EIEE6. 1 Publication1
Natural variantiVAR_064236175A → T in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918767Ensembl.1
Natural variantiVAR_073452175A → V in EIEE6. 1 Publication1
Natural variantiVAR_029664177G → E in EIEE6; results in a non-functional channel. 2 PublicationsCorresponds to variant dbSNP:rs121918770Ensembl.1
Natural variantiVAR_073454179C → R in EIEE6. 1 Publication1
Natural variantiVAR_029665190W → R in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121918773Ensembl.1
Natural variantiVAR_073455191N → K in EIEE6. 1 Publication1
Natural variantiVAR_064237191N → Y in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121918762Ensembl.1
Natural variantiVAR_073456194D → G in EIEE6. 1 Publication1
Natural variantiVAR_064238194D → N in EIEE6. 3 PublicationsCorresponds to variant dbSNP:rs121917935Ensembl.1
Natural variantiVAR_064347199T → R in EIEE6; borderline phenotype with spike wave activity. 2 PublicationsCorresponds to variant dbSNP:rs121917983Ensembl.1
Natural variantiVAR_064297217T → K in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917936Ensembl.1
Natural variantiVAR_073458223A → E in EIEE6. 1 Publication1
Natural variantiVAR_043351226T → M in EIEE6; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy. 1 PublicationCorresponds to variant dbSNP:rs121917984Ensembl.1
Natural variantiVAR_073459226T → R in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917984Ensembl.1
Natural variantiVAR_029666227I → S in EIEE6; borderline phenotype with spike wave activity in some patients; results in a non-functional channel. 7 PublicationsCorresponds to variant dbSNP:rs121917937Ensembl.1
Natural variantiVAR_073460227I → T in EIEE6. 1 Publication1
Natural variantiVAR_078192228S → P in EIEE6. 1 Publication1
Natural variantiVAR_073461232G → S in EIEE6. 2 Publications1
Natural variantiVAR_073462233L → R in EIEE6. 1 Publication1
Natural variantiVAR_043352239A → T in EIEE6; borderline phenotype with spike wave activity in some patients. 2 PublicationsCorresponds to variant dbSNP:rs121917985Ensembl.1
Natural variantiVAR_064239239A → V in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917909Ensembl.1
Natural variantiVAR_073463243S → Y in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs794726755Ensembl.1
Natural variantiVAR_029667252I → N in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918780Ensembl.1
Natural variantiVAR_064240259S → R in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121918735Ensembl.1
Natural variantiVAR_029668265G → W in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918749Ensembl.1
Natural variantiVAR_073466277C → R in EIEE6. 1 Publication1
Natural variantiVAR_073467280W → C in EIEE6. 1 Publication1
Natural variantiVAR_029669280W → R in EIEE6. 3 PublicationsCorresponds to variant dbSNP:rs121917938Ensembl.1
Natural variantiVAR_073468281P → A in EIEE6. 1 Publication1
Natural variantiVAR_073469281P → L in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs796052964Ensembl.1
Natural variantiVAR_073470281P → S in EIEE6. 1 Publication1
Natural variantiVAR_072743289E → V in EIEE6. 1 Publication1
Natural variantiVAR_029670297T → I in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121918771Ensembl.1
Natural variantiVAR_064298322R → I in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121917928Ensembl.1
Natural variantiVAR_073474340S → F in EIEE6. 1 Publication1
Natural variantiVAR_073475342A → V in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs794726797Ensembl.1
Natural variantiVAR_029671343G → D in EIEE6. 3 PublicationsCorresponds to variant dbSNP:rs121918753Ensembl.1
Natural variantiVAR_073476345C → R in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs794726782Ensembl.1
Natural variantiVAR_073477351C → W in EIEE6. 1 Publication1
Natural variantiVAR_073478355G → D in EIEE6. 1 Publication1
Natural variantiVAR_064299356R → G in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917920Ensembl.1
Natural variantiVAR_073479357N → I in EIEE6. 1 Publication1
Natural variantiVAR_064300358P → T in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917923Ensembl.1
Natural variantiVAR_073480359N → S in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs794726713Ensembl.1
Natural variantiVAR_073481363T → P in EIEE6. 1 Publication1
Natural variantiVAR_073482363T → R in EIEE6. 1 Publication1
Natural variantiVAR_043353366D → E in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917958Ensembl.1
Natural variantiVAR_073483378L → Q in EIEE6. 1 Publication1
Natural variantiVAR_072744379M → R in EIEE6. 1 Publication1
Natural variantiVAR_064301383F → L in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917939Ensembl.1
Natural variantiVAR_073485384W → R in EIEE6; borderline phenotype. 2 Publications1
Natural variantiVAR_043355393R → C in EIEE6; also in a patient with myoclonic astatic epilepsy. 5 PublicationsCorresponds to variant dbSNP:rs121917929Ensembl.1
Natural variantiVAR_029672393R → H in EIEE6 and ICEGTC; results in a non-functional channel. 7 PublicationsCorresponds to variant dbSNP:rs121917927Ensembl.1
Natural variantiVAR_064302393R → S in EIEE6. 1 PublicationCorresponds to variant dbSNP:rs121917929Ensembl.1
Natural variantiVAR_073486400M → V in EIEE6. 1 Publication1
Natural variantiVAR_073487400Missing in EIEE6. 1 Publication1
Natural variantiVAR_064303403F → L in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121917966Ensembl.1
Natural variantiVAR_073488403F → V in EIEE6. 1 Publication1
Natural variantiVAR_064242406V → F in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs121918768Ensembl.1
Natural variantiVAR_073489409L → W in EIEE6. 1 Publication1
Natural variantiVAR_064243413Y → N in EIEE6. 3 PublicationsCorresponds to variant dbSNP:rs121917967Ensembl.1
Natural variantiVAR_073490426Y → C in EIEE6. 2 PublicationsCorresponds to variant dbSNP:rs796052973Ensembl.1
Natural variantiVAR_029673426Y → N in EIEE6; results in decreased peak current densities; causes a negative shift in the half-maximal steady-state inactivation and delayed recovery from fast inactivation. 3 PublicationsCorresponds to variant dbSNP:rs121917940Ensembl.1
Natural variantiVAR_073491525S → F in EIEE6. 1 Publication1
Natural variantiVAR_043358626S → G in EIEE6; also found in a patient with cryptogenic generalized epilepsy. 3 PublicationsCorresponds to variant dbSNP:rs121917990Ensembl.1
Natural variantiVAR_073492674D → G in EIEE6. 1 Publication