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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

Specifically activated by the H.maculata toxins Hm1a and Hm1b in somatosensory neurons to elicit acute pain and mechanical allodynia.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000144285-MONOMER.
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 – 123CytoplasmicSequence analysisAdd BLAST123
Transmembranei124 – 147Helical; Name=S1 of repeat IBy similarityAdd BLAST24
Topological domaini148 – 155ExtracellularSequence analysis8
Transmembranei156 – 175Helical; Name=S2 of repeat IBy similarityAdd BLAST20
Topological domaini176 – 188CytoplasmicSequence analysisAdd BLAST13
Transmembranei189 – 207Helical; Name=S3 of repeat IBy similarityAdd BLAST19
Topological domaini208 – 213ExtracellularSequence analysis6
Transmembranei214 – 233Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd BLAST20
Topological domaini234 – 249CytoplasmicSequence analysisAdd BLAST16
Transmembranei250 – 273Helical; Name=S5 of repeat IBy similarityAdd BLAST24
Topological domaini274 – 399ExtracellularSequence analysisAdd BLAST126
Transmembranei400 – 425Helical; Name=S6 of repeat IBy similarityAdd BLAST26
Topological domaini426 – 762CytoplasmicSequence analysisAdd BLAST337
Transmembranei763 – 787Helical; Name=S1 of repeat IIBy similarityAdd BLAST25
Topological domaini788 – 798ExtracellularSequence analysisAdd BLAST11
Transmembranei799 – 822Helical; Name=S2 of repeat IIBy similarityAdd BLAST24
Topological domaini823 – 830CytoplasmicSequence analysis8
Transmembranei831 – 850Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini851 – 856ExtracellularSequence analysis6
Transmembranei857 – 876Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd BLAST20
Topological domaini877 – 892CytoplasmicSequence analysisAdd BLAST16
Transmembranei893 – 913Helical; Name=S5 of repeat IIBy similarityAdd BLAST21
Topological domaini914 – 966ExtracellularSequence analysisAdd BLAST53
Transmembranei967 – 992Helical; Name=S6 of repeat IIBy similarityAdd BLAST26
Topological domaini993 – 1213CytoplasmicSequence analysisAdd BLAST221
Transmembranei1214 – 1237Helical; Name=S1 of repeat IIIBy similarityAdd BLAST24
Topological domaini1238 – 1250ExtracellularSequence analysisAdd BLAST13
Transmembranei1251 – 1276Helical; Name=S2 of repeat IIIBy similarityAdd BLAST26
Topological domaini1277 – 1282CytoplasmicSequence analysis6
Transmembranei1283 – 1304Helical; Name=S3 of repeat IIIBy similarityAdd BLAST22
Topological domaini1305 – 1308ExtracellularSequence analysis4
Transmembranei1309 – 1330Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd BLAST22
Topological domaini1331 – 1349CytoplasmicSequence analysisAdd BLAST19
Transmembranei1350 – 1377Helical; Name=S5 of repeat IIIBy similarityAdd BLAST28
Topological domaini1378 – 1456ExtracellularSequence analysisAdd BLAST79
Transmembranei1457 – 1483Helical; Name=S6 of repeat IIIBy similarityAdd BLAST27
Topological domaini1484 – 1536CytoplasmicSequence analysisAdd BLAST53
Transmembranei1537 – 1560Helical; Name=S1 of repeat IVBy similarityAdd BLAST24
Topological domaini1561 – 1571ExtracellularSequence analysisAdd BLAST11
Transmembranei1572 – 1595Helical; Name=S2 of repeat IVBy similarityAdd BLAST24
Topological domaini1596 – 1601CytoplasmicSequence analysis6
Transmembranei1602 – 1625Helical; Name=S3 of repeat IVBy similarityAdd BLAST24
Topological domaini1626 – 1635ExtracellularSequence analysis10
Transmembranei1636 – 1657Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd BLAST22
Topological domaini1658 – 1672CytoplasmicSequence analysisAdd BLAST15
Transmembranei1673 – 1695Helical; Name=S5 of repeat IVBy similarityAdd BLAST23
Topological domaini1696 – 1761ExtracellularSequence analysisAdd BLAST66
Transmembranei1762 – 1786Helical; Name=S6 of repeat IVBy similarityAdd BLAST25
Topological domaini1787 – 2009CytoplasmicSequence analysisAdd BLAST223

GO - Cellular componenti

Complete GO annotation...

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 rs121917906dbSNPEnsembl.1
Natural variantiVAR_06429574S → P in GEFS+2. 1 PublicationCorresponds to variant rs121917931dbSNPEnsembl.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 rs121917953dbSNPEnsembl.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 rs121917957dbSNPEnsembl.1
Natural variantiVAR_064241388Y → H in GEFS+2. 1 PublicationCorresponds to variant rs121918781dbSNPEnsembl.1
Natural variantiVAR_029675790Y → C in GEFS+2. 1 PublicationCorresponds to variant rs121918782dbSNPEnsembl.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 rs121918784dbSNPEnsembl.1
Natural variantiVAR_073501859R → H in GEFS+2; results in impaired channel fast inactivation and significantly increased persistent current. 1 PublicationCorresponds to variant rs398123588dbSNPEnsembl.1
Natural variantiVAR_010110875T → M in GEFS+2 and EIEE6; borderline phenotype. 2 PublicationsCorresponds to variant rs121918623dbSNPEnsembl.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 rs121917971dbSNPEnsembl.1
Natural variantiVAR_073522960M → T in GEFS+2. 1 Publication1
Natural variantiVAR_043359973M → V in GEFS+2. 2 PublicationsCorresponds to variant rs121917991dbSNPEnsembl.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 rs121917930dbSNPEnsembl.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 rs140731963dbSNPEnsembl.1
Natural variantiVAR_0142711270K → T in GEFS+2. 1 PublicationCorresponds to variant rs121918626dbSNPEnsembl.1
Natural variantiVAR_0642581309L → F in GEFS+2. 1 PublicationCorresponds to variant rs121918801dbSNPEnsembl.1
Natural variantiVAR_0142721353V → L in GEFS+2; complete loss of function. 2 PublicationsCorresponds to variant rs121917954dbSNPEnsembl.1
Natural variantiVAR_0433641366V → I in GEFS+2 and ICEGTC. 1 PublicationCorresponds to variant rs121918805dbSNPEnsembl.1
Natural variantiVAR_0735711414N → D in GEFS+2. 1 Publication1
Natural variantiVAR_0297001428V → A in GEFS+2. 1 PublicationCorresponds to variant rs121918627dbSNPEnsembl.1
Natural variantiVAR_0736041596R → H in GEFS+2. 1 PublicationCorresponds to variant rs575368466dbSNPEnsembl.1
Natural variantiVAR_0101111648R → H in GEFS+2 and EIEE6. 3 PublicationsCorresponds to variant rs121918622dbSNPEnsembl.1
Natural variantiVAR_0142731656I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. 2 PublicationsCorresponds to variant rs121917955dbSNPEnsembl.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 rs121918811dbSNPEnsembl.1
Natural variantiVAR_0297151685A → V in GEFS+2; complete loss of function. 2 PublicationsCorresponds to variant rs121918744dbSNPEnsembl.1
Natural variantiVAR_0643241687F → S in GEFS+2. 1 PublicationCorresponds to variant rs121917932dbSNPEnsembl.1
Natural variantiVAR_0736321739P → L in GEFS+2. 1 Publication1
Natural variantiVAR_0579981742D → G in GEFS+2. 1 PublicationCorresponds to variant rs121918812dbSNPEnsembl.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 rs121918813dbSNPEnsembl.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 rs121918783dbSNPEnsembl.1
Natural variantiVAR_0579991857V → L in GEFS+2. 1 PublicationCorresponds to variant rs121918814dbSNPEnsembl.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 rs121918815dbSNPEnsembl.1
Natural variantiVAR_0736531867I → T in GEFS+2. 2 Publications1
Epileptic encephalopathy, early infantile, 6 (EIEE6)34 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 rs121917907dbSNPEnsembl.1
Natural variantiVAR_07344568I → T in EIEE6; borderline phenotype. 1 PublicationCorresponds to variant rs758871507dbSNPEnsembl.1
Natural variantiVAR_02966078E → D in EIEE6. 2 PublicationsCorresponds to variant rs121917933dbSNPEnsembl.1
Natural variantiVAR_06434679D → H in EIEE6; borderline phenotype. 2 PublicationsCorresponds to variant rs121917982dbSNPEnsembl.1
Natural variantiVAR_07344679D → N in EIEE6. 1 Publication1
Natural variantiVAR_04334984Y → C in EIEE6. 4 PublicationsCorresponds to variant rs121917964dbSNPEnsembl.1
Natural variantiVAR_06423190F → S in EIEE6 and ICEGTC. 2 PublicationsCorresponds to variant rs121918733dbSNPEnsembl.1
Natural variantiVAR_06423291I → T in EIEE6. 1 PublicationCorresponds to variant rs121918734dbSNPEnsembl.1
Natural variantiVAR_07344798A → P in EIEE6. 1 Publication1
Natural variantiVAR_029661101R → Q in EIEE6 and ICEGTC. 7 PublicationsCorresponds to variant rs121917918dbSNPEnsembl.1
Natural variantiVAR_064233101R → W in EIEE6. 5 PublicationsCorresponds to variant rs121917965dbSNPEnsembl.1
Natural variantiVAR_029662103S → G in EIEE6. 1 PublicationCorresponds to variant rs121918743dbSNPEnsembl.1
Natural variantiVAR_073448105T → I in EIEE6. 1 PublicationCorresponds to variant rs796053089dbSNPEnsembl.1
Natural variantiVAR_073449108L → R in EIEE6. 1 Publication1
Natural variantiVAR_029663112T → I in EIEE6. 1 PublicationCorresponds to variant rs121918745dbSNPEnsembl.1
Natural variantiVAR_043350118R → S in EIEE6. 1 PublicationCorresponds to variant rs121917959dbSNPEnsembl.1
Natural variantiVAR_064234124I → N in EIEE6. 2 PublicationsCorresponds to variant rs121918761dbSNPEnsembl.1
Natural variantiVAR_073450127H → D in EIEE6; borderline phenotype. 1 PublicationCorresponds to variant rs148442069dbSNPEnsembl.1
Natural variantiVAR_064296162T → P in EIEE6. 1 PublicationCorresponds to variant rs121917934dbSNPEnsembl.1
Natural variantiVAR_064235171I → K in EIEE6. 1 PublicationCorresponds to variant rs121918766dbSNPEnsembl.1
Natural variantiVAR_073451171I → R in EIEE6. 1 Publication1
Natural variantiVAR_064236175A → T in EIEE6. 1 PublicationCorresponds to variant rs121918767dbSNPEnsembl.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 rs121918770dbSNPEnsembl.1
Natural variantiVAR_073454179C → R in EIEE6. 1 Publication1
Natural variantiVAR_029665190W → R in EIEE6. 2 PublicationsCorresponds to variant rs121918773dbSNPEnsembl.1
Natural variantiVAR_073455191N → K in EIEE6. 1 Publication1
Natural variantiVAR_064237191N → Y in EIEE6. 2 PublicationsCorresponds to variant rs121918762dbSNPEnsembl.1
Natural variantiVAR_073456194D → G in EIEE6. 1 Publication1
Natural variantiVAR_064238194D → N in EIEE6. 2 PublicationsCorresponds to variant rs121917935dbSNPEnsembl.1
Natural variantiVAR_064347199T → R in EIEE6; borderline phenotype with spike wave activity. 2 PublicationsCorresponds to variant rs121917983dbSNPEnsembl.1
Natural variantiVAR_064297217T → K in EIEE6. 1 PublicationCorresponds to variant rs121917936dbSNPEnsembl.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 rs121917984dbSNPEnsembl.1
Natural variantiVAR_073459226T → R in EIEE6. 1 Publication1
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 rs121917937dbSNPEnsembl.1
Natural variantiVAR_073460227I → T 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 rs121917985dbSNPEnsembl.1
Natural variantiVAR_064239239A → V in EIEE6. 1 PublicationCorresponds to variant rs121917909dbSNPEnsembl.1
Natural variantiVAR_073463243S → Y in EIEE6. 1 PublicationCorresponds to variant rs794726755dbSNPEnsembl.1
Natural variantiVAR_029667252I → N in EIEE6. 1 PublicationCorresponds to variant rs121918780dbSNPEnsembl.1
Natural variantiVAR_064240259S → R in EIEE6. 2 PublicationsCorresponds to variant rs121918735dbSNPEnsembl.1
Natural variantiVAR_029668265G → W in EIEE6. 1 PublicationCorresponds to variant rs121918749dbSNPEnsembl.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 rs121917938dbSNPEnsembl.1
Natural variantiVAR_073468281P → A in EIEE6. 1 Publication1
Natural variantiVAR_073469281P → L in EIEE6. 1 PublicationCorresponds to variant rs796052964dbSNPEnsembl.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 rs121918771dbSNPEnsembl.1
Natural variantiVAR_064298322R → I in EIEE6. 2 PublicationsCorresponds to variant rs121917928dbSNPEnsembl.1
Natural variantiVAR_073474340S → F in EIEE6. 1 Publication1
Natural variantiVAR_073475342A → V in EIEE6. 1 PublicationCorresponds to variant rs794726797dbSNPEnsembl.1
Natural variantiVAR_029671343G → D in EIEE6. 3 PublicationsCorresponds to variant rs121918753dbSNPEnsembl.1
Natural variantiVAR_073476345C → R in EIEE6. 1 PublicationCorresponds to variant rs794726782dbSNPEnsembl.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 rs121917920dbSNPEnsembl.1
Natural variantiVAR_073479357N → I in EIEE6. 1 Publication1
Natural variantiVAR_064300358P → T in EIEE6. 1 PublicationCorresponds to variant rs121917923dbSNPEnsembl.1
Natural variantiVAR_073480359N → S in EIEE6. 1 PublicationCorresponds to variant rs794726713dbSNPEnsembl.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 rs121917958dbSNPEnsembl.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 rs121917939dbSNPEnsembl.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 rs121917929dbSNPEnsembl.1
Natural variantiVAR_029672393R → H in EIEE6 and ICEGTC; results in a non-functional channel. 7 PublicationsCorresponds to variant rs121917927dbSNPEnsembl.1
Natural variantiVAR_064302393R → S in EIEE6. 1 PublicationCorresponds to variant rs121917929dbSNPEnsembl.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 rs121917966dbSNPEnsembl.1
Natural variantiVAR_073488403F → V in EIEE6. 1 Publication1
Natural variantiVAR_064242406V → F in EIEE6. 2 PublicationsCorresponds to variant rs121918768dbSNPEnsembl.1
Natural variantiVAR_073489409L → W in EIEE6. 1 Publication1
Natural variantiVAR_064243413Y → N in EIEE6. 3 PublicationsCorresponds to variant rs121917967dbSNPEnsembl.1
Natural variantiVAR_073490426Y → C in EIEE6. 2 PublicationsCorresponds to variant rs796052973dbSNPEnsembl.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 rs121917940dbSNPEnsembl.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 rs121917990dbSNPEnsembl.1
Natural variantiVAR_073492674D → G in EIEE6. 1 Publication1
Natural variantiVAR_073494762N → D in EIEE6. 1 Publication1
Natural variantiVAR_064245783L → P in EIEE6. 2 PublicationsCorresponds to variant rs121917968dbSNPEnsembl.1
Natural variantiVAR_073495785M → T in EIEE6. 1 PublicationCorresponds to variant rs796053095dbSNPEnsembl.1
Natural variantiVAR_073497812T → I in EIEE6; borderline phenotype. 1 Publication1
Natural variantiVAR_064304812T → R in EIEE6. 1 PublicationCorresponds to variant rs121917941dbSNPEnsembl.1
Natural variantiVAR_073498842L → R in EIEE6. 1 Publication1
Natural variantiVAR_073499843S → R in EIEE6. 1 Publication1
Natural variantiVAR_064305846E → K in EIEE6. 1 PublicationCorresponds to variant rs121917942dbSNPEnsembl.1
Natural variantiVAR_073500854 – 855Missing in EIEE6. 1 Publication