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P35498 (SCN1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 155. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SCN1A
Synonyms:NAC1, SCN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2009 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with FGF13; may regulate SCN1A activity. Ref.8

Subcellular location

Membrane; Multi-pass membrane protein.

Domain

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

Post-translational modification

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

Involvement in disease

Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.10 Ref.12 Ref.13 Ref.16 Ref.18 Ref.23 Ref.26 Ref.30 Ref.32 Ref.36 Ref.37 Ref.40 Ref.44 Ref.49 Ref.53 Ref.55

Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]: A rare disorder 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 SMEI. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.14 Ref.15 Ref.17 Ref.18 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.28 Ref.31 Ref.33 Ref.34 Ref.35 Ref.36 Ref.40 Ref.46 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.54

Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]: A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.37

Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]: A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.27 Ref.38 Ref.39 Ref.43

Febrile seizures, familial, 3A (FEB3A) [MIM:604403]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.29

Sequence similarities

Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily. [View classification]

Contains 1 IQ domain.

Ontologies

Keywords
   Biological processIon transport
Sodium transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epilepsy
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandSodium
   Molecular functionIon channel
Sodium channel
Voltage-gated channel
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult walking behavior

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling posture

Inferred from electronic annotation. Source: Ensembl

neuronal action potential

Inferred from electronic annotation. Source: Ensembl

neuronal action potential propagation

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Non-traceable author statement Ref.1. Source: GOC

sodium ion transport

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentT-tubule

Inferred from electronic annotation. Source: Ensembl

Z disc

Inferred from sequence or structural similarity. Source: BHF-UCL

axon initial segment

Inferred from electronic annotation. Source: Ensembl

intercalated disc

Inferred from electronic annotation. Source: Ensembl

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

node of Ranvier

Inferred from electronic annotation. Source: Ensembl

voltage-gated sodium channel complex

Inferred from electronic annotation. Source: InterPro

   Molecular_functionvoltage-gated sodium channel activity

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P35498-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P35498-2)

The sequence of this isoform differs from the canonical sequence as follows:
     671-681: Missing.
Isoform 3 (identifier: P35498-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 20092009Sodium channel protein type 1 subunit alpha
PRO_0000048489

Regions

Topological domain1 – 123123Cytoplasmic Potential
Transmembrane124 – 14724Helical; Name=S1 of repeat I; By similarity
Topological domain148 – 1558Extracellular Potential
Transmembrane156 – 17520Helical; Name=S2 of repeat I; By similarity
Topological domain176 – 18813Cytoplasmic Potential
Transmembrane189 – 20719Helical; Name=S3 of repeat I; By similarity
Topological domain208 – 2136Extracellular Potential
Transmembrane214 – 23320Helical; Voltage-sensor; Name=S4 of repeat I; By similarity
Topological domain234 – 24916Cytoplasmic Potential
Transmembrane250 – 27324Helical; Name=S5 of repeat I; By similarity
Topological domain274 – 399126Extracellular Potential
Transmembrane400 – 42526Helical; Name=S6 of repeat I; By similarity
Topological domain426 – 762337Cytoplasmic Potential
Transmembrane763 – 78725Helical; Name=S1 of repeat II; By similarity
Topological domain788 – 79811Extracellular Potential
Transmembrane799 – 82224Helical; Name=S2 of repeat II; By similarity
Topological domain823 – 8308Cytoplasmic Potential
Transmembrane831 – 85020Helical; Name=S3 of repeat II; By similarity
Topological domain851 – 8566Extracellular Potential
Transmembrane857 – 87620Helical; Voltage-sensor; Name=S4 of repeat II; By similarity
Topological domain877 – 89216Cytoplasmic Potential
Transmembrane893 – 91321Helical; Name=S5 of repeat II; By similarity
Topological domain914 – 96653Extracellular Potential
Transmembrane967 – 99226Helical; Name=S6 of repeat II; By similarity
Topological domain993 – 1213221Cytoplasmic Potential
Transmembrane1214 – 123724Helical; Name=S1 of repeat III; By similarity
Topological domain1238 – 125013Extracellular Potential
Transmembrane1251 – 127626Helical; Name=S2 of repeat III; By similarity
Topological domain1277 – 12826Cytoplasmic Potential
Transmembrane1283 – 130422Helical; Name=S3 of repeat III; By similarity
Topological domain1305 – 13084Extracellular Potential
Transmembrane1309 – 133022Helical; Voltage-sensor; Name=S4 of repeat III; By similarity
Topological domain1331 – 134919Cytoplasmic Potential
Transmembrane1350 – 137728Helical; Name=S5 of repeat III; By similarity
Topological domain1378 – 145679Extracellular Potential
Transmembrane1457 – 148327Helical; Name=S6 of repeat III; By similarity
Topological domain1484 – 153653Cytoplasmic Potential
Transmembrane1537 – 156024Helical; Name=S1 of repeat IV; By similarity
Topological domain1561 – 157111Extracellular Potential
Transmembrane1572 – 159524Helical; Name=S2 of repeat IV; By similarity
Topological domain1596 – 16016Cytoplasmic Potential
Transmembrane1602 – 162524Helical; Name=S3 of repeat IV; By similarity
Topological domain1626 – 163510Extracellular Potential
Transmembrane1636 – 165722Helical; Voltage-sensor; Name=S4 of repeat IV; By similarity
Topological domain1658 – 167215Cytoplasmic Potential
Transmembrane1673 – 169523Helical; Name=S5 of repeat IV; By similarity
Topological domain1696 – 176166Extracellular Potential
Transmembrane1762 – 178625Helical; Name=S6 of repeat IV; By similarity
Topological domain1787 – 2009223Cytoplasmic Potential
Repeat110 – 454345I
Repeat750 – 1022273II
Repeat1200 – 1514315III
Repeat1523 – 1821299IV
Domain1915 – 194430IQ

Amino acid modifications

Modified residue4701Phosphoserine By similarity
Modified residue5511Phosphoserine By similarity
Modified residue6071Phosphoserine By similarity
Modified residue15161Phosphoserine; by PKC By similarity
Glycosylation2111N-linked (GlcNAc...) Potential
Glycosylation2841N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3011N-linked (GlcNAc...) Potential
Glycosylation3061N-linked (GlcNAc...) Potential
Glycosylation3381N-linked (GlcNAc...) Potential
Glycosylation13781N-linked (GlcNAc...) Potential
Glycosylation13921N-linked (GlcNAc...) Potential
Glycosylation14031N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence654 – 68128Missing in isoform 3.
VSP_045399
Alternative sequence671 – 68111Missing in isoform 2.
VSP_001031
Natural variant271R → T in GEFS+2. Ref.49
Corresponds to variant rs121917906 [ dbSNP | Ensembl ].
VAR_064229
Natural variant631F → L in SMEI. Ref.49
Corresponds to variant rs121917907 [ dbSNP | Ensembl ].
VAR_064230
Natural variant741S → P in GEFS+2. Ref.36
Corresponds to variant rs121917931 [ dbSNP | Ensembl ].
VAR_064295
Natural variant781E → D in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917933 [ dbSNP | Ensembl ].
VAR_029660
Natural variant791D → H in SMEI; borderline phenotype. Ref.35
Corresponds to variant rs121917982 [ dbSNP | Ensembl ].
VAR_064346
Natural variant841Y → C in SMEI. Ref.35 Ref.51
Corresponds to variant rs121917964 [ dbSNP | Ensembl ].
VAR_043349
Natural variant901F → S in SMEI. Ref.50
Corresponds to variant rs121918733 [ dbSNP | Ensembl ].
VAR_064231
Natural variant911I → T in SMEI. Ref.50
Corresponds to variant rs121918734 [ dbSNP | Ensembl ].
VAR_064232
Natural variant1011R → Q in SMEI. Ref.22 Ref.36 Ref.50 Ref.51
Corresponds to variant rs121917918 [ dbSNP | Ensembl ].
VAR_029661
Natural variant1011R → W in SMEI. Ref.35 Ref.50
Corresponds to variant rs121917965 [ dbSNP | Ensembl ].
VAR_064233
Natural variant1031S → G in SMEI. Ref.15
Corresponds to variant rs121918743 [ dbSNP | Ensembl ].
VAR_029662
Natural variant1121T → I in SMEI. Ref.15
Corresponds to variant rs121918745 [ dbSNP | Ensembl ].
VAR_029663
Natural variant1181R → S in SMEI. Ref.40
Corresponds to variant rs121917959 [ dbSNP | Ensembl ].
VAR_043350
Natural variant1241I → N in SMEI. Ref.52
Corresponds to variant rs121918761 [ dbSNP | Ensembl ].
VAR_064234
Natural variant1451M → T in FEB3A; loss of function. Ref.29
Corresponds to variant rs121918631 [ dbSNP | Ensembl ].
VAR_025366
Natural variant1621T → P in SMEI. Ref.31
Corresponds to variant rs121917934 [ dbSNP | Ensembl ].
VAR_064296
Natural variant1711I → K in SMEI. Ref.51
Corresponds to variant rs121918766 [ dbSNP | Ensembl ].
VAR_064235
Natural variant1751A → T in SMEI. Ref.51
Corresponds to variant rs121918767 [ dbSNP | Ensembl ].
VAR_064236
Natural variant1771G → E in SMEI. Ref.20
Corresponds to variant rs121918770 [ dbSNP | Ensembl ].
VAR_029664
Natural variant1881D → V in GEFS+2. Ref.9
Corresponds to variant rs121917953 [ dbSNP | Ensembl ].
VAR_014267
Natural variant1901W → R in SMEI. Ref.22
Corresponds to variant rs121918773 [ dbSNP | Ensembl ].
VAR_029665
Natural variant1911N → Y in SMEI. Ref.52
Corresponds to variant rs121918762 [ dbSNP | Ensembl ].
VAR_064237
Natural variant1941D → N in SMEI. Ref.31 Ref.51
Corresponds to variant rs121917935 [ dbSNP | Ensembl ].
VAR_064238
Natural variant1991T → R in SMEI; borderline phenotype with spike wave activity. Ref.35
Corresponds to variant rs121917983 [ dbSNP | Ensembl ].
VAR_064347
Natural variant2171T → K in SMEI. Ref.31
Corresponds to variant rs121917936 [ dbSNP | Ensembl ].
VAR_064297
Natural variant2261T → M in SMEI; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy. Ref.35
Corresponds to variant rs121917984 [ dbSNP | Ensembl ].
VAR_043351
Natural variant2271I → S in SMEI. Ref.20 Ref.31 Ref.51
Corresponds to variant rs121917937 [ dbSNP | Ensembl ].
VAR_029666
Natural variant2391A → T in SMEI. Ref.35 Ref.50
Corresponds to variant rs121917985 [ dbSNP | Ensembl ].
VAR_043352
Natural variant2391A → V in SMEI. Ref.49
Corresponds to variant rs121917909 [ dbSNP | Ensembl ].
VAR_064239
Natural variant2521I → N in SMEI. Ref.24
Corresponds to variant rs121918780 [ dbSNP | Ensembl ].
VAR_029667
Natural variant2591S → R in SMEI. Ref.50
Corresponds to variant rs121918735 [ dbSNP | Ensembl ].
VAR_064240
Natural variant2651G → W in SMEI. Ref.15
Corresponds to variant rs121918749 [ dbSNP | Ensembl ].
VAR_029668
Natural variant2801W → R in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917938 [ dbSNP | Ensembl ].
VAR_029669
Natural variant2971T → I in SMEI. Ref.20
Corresponds to variant rs121918771 [ dbSNP | Ensembl ].
VAR_029670
Natural variant3221R → I in SMEI. Ref.36
Corresponds to variant rs121917928 [ dbSNP | Ensembl ].
VAR_064298
Natural variant3431G → D in SMEI. Ref.15
Corresponds to variant rs121918753 [ dbSNP | Ensembl ].
VAR_029671
Natural variant3561R → G in SMEI. Ref.36
Corresponds to variant rs121917920 [ dbSNP | Ensembl ].
VAR_064299
Natural variant3581P → T in SMEI. Ref.36
Corresponds to variant rs121917923 [ dbSNP | Ensembl ].
VAR_064300
Natural variant3661D → E in SMEI. Ref.40
Corresponds to variant rs121917958 [ dbSNP | Ensembl ].
VAR_043353
Natural variant3771R → Q in GEFS+2. Ref.40
Corresponds to variant rs121917957 [ dbSNP | Ensembl ].
VAR_043354
Natural variant3831F → L in SMEI. Ref.31
Corresponds to variant rs121917939 [ dbSNP | Ensembl ].
VAR_064301
Natural variant3881Y → H in GEFS+2. Ref.44
Corresponds to variant rs121918781 [ dbSNP | Ensembl ].
VAR_064241
Natural variant3931R → C in SMEI; also in a patient with myoclonic astatic epilepsy. Ref.31 Ref.35 Ref.36
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_043355
Natural variant3931R → H in SMEI. Ref.17 Ref.36 Ref.50
Corresponds to variant rs121917927 [ dbSNP | Ensembl ].
VAR_029672
Natural variant3931R → S in SMEI. Ref.31
Corresponds to variant rs121917929 [ dbSNP | Ensembl ].
VAR_064302
Natural variant3951A → P Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. Ref.35
Corresponds to variant rs121917988 [ dbSNP | Ensembl ].
VAR_043356
Natural variant4031F → L in SMEI. Ref.33 Ref.35
Corresponds to variant rs121917966 [ dbSNP | Ensembl ].
VAR_064303
Natural variant4061V → F in SMEI. Ref.51
Corresponds to variant rs121918768 [ dbSNP | Ensembl ].
VAR_064242
Natural variant4131Y → N in SMEI. Ref.33 Ref.35 Ref.51
Corresponds to variant rs121917967 [ dbSNP | Ensembl ].
VAR_064243
Natural variant4221V → E Probable disease-associated mutation found in a patient with cryptogenic generalized epilepsy. Ref.35
Corresponds to variant rs121917989 [ dbSNP | Ensembl ].
VAR_043357
Natural variant4261Y → N in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917940 [ dbSNP | Ensembl ].
VAR_029673
Natural variant5421R → Q Associated with autism. Ref.19
Corresponds to variant rs121918817 [ dbSNP | Ensembl ].
VAR_029674
Natural variant6041R → H in SMEI. Ref.51
Corresponds to variant rs121918769 [ dbSNP | Ensembl ].
VAR_064244
Natural variant6261S → G in a patient with cryptogenic generalized epilepsy; unknown pathological significance. Ref.35
Corresponds to variant rs121917990 [ dbSNP | Ensembl ].
VAR_043358
Natural variant7831L → P in SMEI. Ref.35 Ref.51
Corresponds to variant rs121917968 [ dbSNP | Ensembl ].
VAR_064245
Natural variant7901Y → C in GEFS+2. Ref.16
Corresponds to variant rs121918782 [ dbSNP | Ensembl ].
VAR_029675
Natural variant8081T → S in ICEGTC. Ref.15
Corresponds to variant rs121918758 [ dbSNP | Ensembl ].
VAR_029676
Natural variant8121T → R in SMEI. Ref.31
Corresponds to variant rs121917941 [ dbSNP | Ensembl ].
VAR_064304
Natural variant8461E → K in SMEI. Ref.31
Corresponds to variant rs121917942 [ dbSNP | Ensembl ].
VAR_064305
Natural variant8591R → 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. Ref.32
Corresponds to variant rs121918784 [ dbSNP | Ensembl ].
VAR_064306
Natural variant8621R → Q in SMEI. Ref.48
Corresponds to variant rs121918785 [ dbSNP | Ensembl ].
VAR_064246
Natural variant8751T → K in SMEI. Ref.52
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_064247
Natural variant8751T → M in GEFS+2. Ref.1
Corresponds to variant rs121918623 [ dbSNP | Ensembl ].
VAR_010110
Natural variant9021F → C in SMEI. Ref.14
Corresponds to variant rs121918787 [ dbSNP | Ensembl ].
VAR_029677
Natural variant9311R → C in SMEI. Ref.14
Corresponds to variant rs121918788 [ dbSNP | Ensembl ].
VAR_029678
Natural variant9341M → I in SMEI. Ref.22
Corresponds to variant rs121918774 [ dbSNP | Ensembl ].
VAR_029679
Natural variant9391H → Q in SMEI. Ref.17
Corresponds to variant rs121918795 [ dbSNP | Ensembl ].
VAR_029680
Natural variant9391H → Y in SMEI. Ref.50
Corresponds to variant rs121918736 [ dbSNP | Ensembl ].
VAR_064248
Natural variant9421L → P in SMEI. Ref.31
Corresponds to variant rs121917943 [ dbSNP | Ensembl ].
VAR_064307
Natural variant9441V → A in SMEI. Ref.22
Corresponds to variant rs121917969 [ dbSNP | Ensembl ].
VAR_029681
Natural variant9441V → E in SMEI. Ref.35 Ref.51
VAR_064249
Natural variant9451F → L in SMEI. Ref.35 Ref.51
Corresponds to variant rs121917970 [ dbSNP | Ensembl ].
VAR_064250
Natural variant9461R → C in SMEI. Ref.22
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_029682
Natural variant9461R → H in SMEI. Ref.22 Ref.33 Ref.51
Corresponds to variant rs121917971 [ dbSNP | Ensembl ].
VAR_029683
Natural variant9461R → S in SMEI. Ref.28
Corresponds to variant rs121918775 [ dbSNP | Ensembl ].
VAR_057995
Natural variant9501G → E in SMEI. Ref.35 Ref.51
Corresponds to variant rs121917972 [ dbSNP | Ensembl ].
VAR_064251
Natural variant9521W → G in SMEI. Ref.50
Corresponds to variant rs121918737 [ dbSNP | Ensembl ].
VAR_064252
Natural variant9541E → K in SMEI. Ref.48
Corresponds to variant rs121918786 [ dbSNP | Ensembl ].
VAR_064253
Natural variant9571W → L in SMEI. Ref.36
Corresponds to variant rs121917917 [ dbSNP | Ensembl ].
VAR_064308
Natural variant9591C → R in SMEI. Ref.17
Corresponds to variant rs121918796 [ dbSNP | Ensembl ].
VAR_029684
Natural variant9601M → V in SMEI. Ref.15
Corresponds to variant rs121918750 [ dbSNP | Ensembl ].
VAR_029685
Natural variant9731M → V in a patient with cryptogenic generalized epilepsy; uncertain pathological role. Ref.35
Corresponds to variant rs121917991 [ dbSNP | Ensembl ].
VAR_043359
Natural variant9791G → R in ICEGTC. Ref.15
Corresponds to variant rs121918754 [ dbSNP | Ensembl ].
VAR_029686
Natural variant9831V → A in ICEGTC. Ref.15
Corresponds to variant rs121918756 [ dbSNP | Ensembl ].
VAR_029687
Natural variant9851N → I in SMEI. Ref.15
Corresponds to variant rs121918747 [ dbSNP | Ensembl ].
VAR_029688
Natural variant9861L → F in SMEI; complete loss of function. Ref.11 Ref.18
Corresponds to variant rs121918625 [ dbSNP | Ensembl ].
VAR_014268
Natural variant10111N → I in ICEGTC. Ref.15
Corresponds to variant rs121918759 [ dbSNP | Ensembl ].
VAR_029689
Natural variant10341I → T Associated with autism. Ref.19
Corresponds to variant rs121918818 [ dbSNP | Ensembl ].
VAR_029690
Natural variant10381F → L Associated with autism. Ref.19
VAR_029691
Natural variant10671A → T. Ref.4 Ref.9 Ref.14 Ref.15 Ref.19 Ref.25 Ref.42 Ref.45
Corresponds to variant rs2298771 [ dbSNP | Ensembl ].
VAR_014269
Natural variant11741T → S in FHM3. Ref.39
Corresponds to variant rs121918799 [ dbSNP | Ensembl ].
VAR_064309
Natural variant12041W → R in GEFS+2. Ref.10 Ref.36
Corresponds to variant rs121917930 [ dbSNP | Ensembl ].
VAR_014270
Natural variant12071L → P in SMEI. Ref.40
Corresponds to variant rs121917963 [ dbSNP | Ensembl ].
VAR_043360
Natural variant12101T → K in SMEI. Ref.50
Corresponds to variant rs121918738 [ dbSNP | Ensembl ].
VAR_064254
Natural variant12311S → R in SMEI. Ref.15
Corresponds to variant rs121918746 [ dbSNP | Ensembl ].
VAR_029692
Natural variant12311S → T in SMEI. Ref.34
Corresponds to variant rs121918800 [ dbSNP | Ensembl ].
VAR_064310
Natural variant12331G → R in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917911 [ dbSNP | Ensembl ].
VAR_029693
Natural variant12381E → D in SMEI. Ref.33 Ref.35
Corresponds to variant rs121917973 [ dbSNP | Ensembl ].
VAR_043361
Natural variant12451R → Q in SMEI. Ref.31
Corresponds to variant rs121917912 [ dbSNP | Ensembl ].
VAR_064311
Natural variant12601T → P in SMEI. Ref.50
Corresponds to variant rs121918739 [ dbSNP | Ensembl ].
VAR_064255
Natural variant12631F → L in SMEI. Ref.15
Corresponds to variant rs121918752 [ dbSNP | Ensembl ].
VAR_029694
Natural variant12651L → P in SMEI. Ref.14
Corresponds to variant rs121918794 [ dbSNP | Ensembl ].
VAR_029695
Natural variant12701K → T in GEFS+2. Ref.13
Corresponds to variant rs121918626 [ dbSNP | Ensembl ].
VAR_014271
Natural variant12871L → P in SMEI. Ref.50
Corresponds to variant rs121918740 [ dbSNP | Ensembl ].
VAR_064256
Natural variant12891Missing in SMEI. Ref.14
VAR_029696
Natural variant13081E → D in SMEI. Ref.49
Corresponds to variant rs121917910 [ dbSNP | Ensembl ].
VAR_064257
Natural variant13091L → F in GEFS+2. Ref.55
Corresponds to variant rs121918801 [ dbSNP | Ensembl ].
VAR_064258
Natural variant13261A → P in SMEI. Ref.21
Corresponds to variant rs121918803 [ dbSNP | Ensembl ].
VAR_029698
Natural variant13351V → M in SMEI. Ref.40 Ref.50
Corresponds to variant rs121917960 [ dbSNP | Ensembl ].
VAR_043362
Natural variant13531V → L in GEFS+2; complete loss of function. Ref.9 Ref.18
Corresponds to variant rs121917954 [ dbSNP | Ensembl ].
VAR_014272
Natural variant13551L → P in SMEI. Ref.22
Corresponds to variant rs121918776 [ dbSNP | Ensembl ].
VAR_029697
Natural variant13581W → S in SMEI. Ref.40
Corresponds to variant rs121917961 [ dbSNP | Ensembl ].
VAR_043363
Natural variant13661V → I in GEFS+2 and ICEGTC. Ref.37
Corresponds to variant rs121918805 [ dbSNP | Ensembl ].
VAR_043364
Natural variant13671N → K in SMEI. Ref.52
Corresponds to variant rs121918760 [ dbSNP | Ensembl ].
VAR_064259
Natural variant13901V → M in SMEI; some patients have a borderline SMEI phenotype. Ref.14 Ref.35 Ref.50
Corresponds to variant rs121917986 [ dbSNP | Ensembl ].
VAR_029699
Natural variant13961C → G in SMEI; some patients have a borderline SMEI phenotype. Ref.33 Ref.35 Ref.51
Corresponds to variant rs121917987 [ dbSNP | Ensembl ].
VAR_064260
Natural variant14141N → Y in SMEI. Ref.36
Corresponds to variant rs121917925 [ dbSNP | Ensembl ].
VAR_064312
Natural variant14221Y → C in SMEI. Ref.31
Corresponds to variant rs121917913 [ dbSNP | Ensembl ].
VAR_064313
Natural variant14261L → R in SMEI. Ref.31
Corresponds to variant rs121917944 [ dbSNP | Ensembl ].
VAR_064314
Natural variant14281V → A in GEFS+2. Ref.12
Corresponds to variant rs121918627 [ dbSNP | Ensembl ].
VAR_029700
Natural variant14331G → E in SMEI. Ref.50
Corresponds to variant rs121918741 [ dbSNP | Ensembl ].
VAR_064261
Natural variant14331G → R in SMEI. Ref.49
Corresponds to variant rs121917908 [ dbSNP | Ensembl ].
VAR_064262
Natural variant14341W → R in SMEI. Ref.14 Ref.17
Corresponds to variant rs121918789 [ dbSNP | Ensembl ].
VAR_029701
Natural variant14411A → P in SMEI. Ref.35
Corresponds to variant rs121917974 [ dbSNP | Ensembl ].
VAR_064348
Natural variant14501Q → K in SMEI. Ref.51
Corresponds to variant rs121918806 [ dbSNP | Ensembl ].
VAR_064263
Natural variant14501Q → R in SMEI. Ref.14
Corresponds to variant rs121918790 [ dbSNP | Ensembl ].
VAR_029702
Natural variant14511P → L in SMEI. Ref.31
Corresponds to variant rs121917945 [ dbSNP | Ensembl ].
VAR_064315
Natural variant14611L → I in SMEI. Ref.20
Corresponds to variant rs121918772 [ dbSNP | Ensembl ].
VAR_029703
Natural variant14621Y → C in SMEI. Ref.40
Corresponds to variant rs121917962 [ dbSNP | Ensembl ].
VAR_043365
Natural variant14631F → S in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917946 [ dbSNP | Ensembl ].
VAR_029704
Natural variant14701G → W in SMEI. Ref.36
Corresponds to variant rs121917924 [ dbSNP | Ensembl ].
VAR_064316
Natural variant14751L → S in SMEI. Ref.31
Corresponds to variant rs121917947 [ dbSNP | Ensembl ].
VAR_064317
Natural variant14801G → V Probable disease-associated mutation found in a patient with myoclonic astatic epilepsy. Ref.35
Corresponds to variant rs121917996 [ dbSNP | Ensembl ].
VAR_043366
Natural variant14891Q → H in FHM3. Ref.43
Corresponds to variant rs121918633 [ dbSNP | Ensembl ].
VAR_057996
Natural variant14891Q → K in FHM3. Ref.27
Corresponds to variant rs121918628 [ dbSNP | Ensembl ].
VAR_025281
Natural variant14991F → L in FHM3. Ref.43
Corresponds to variant rs121918632 [ dbSNP | Ensembl ].
VAR_057997
Natural variant15141L → S in SMEI. Ref.52
Corresponds to variant rs121918764 [ dbSNP | Ensembl ].
VAR_064264
Natural variant15431F → S in a patient with cryptogenic focal epilepsy. Ref.35
Corresponds to variant rs121917992 [ dbSNP | Ensembl ].
VAR_043367
Natural variant15451I → V in SMEI. Ref.35 Ref.51
Corresponds to variant rs121917975 [ dbSNP | Ensembl ].
VAR_064265
Natural variant15591Missing in SMEI. Ref.22
VAR_029705
Natural variant15751R → C Detected in a patient with Rasmussen encephalitis. Ref.41
Corresponds to variant rs121918807 [ dbSNP | Ensembl ].
VAR_064318
Natural variant15861G → E in SMEI. Ref.50
Corresponds to variant rs121918742 [ dbSNP | Ensembl ].
VAR_064266
Natural variant15881C → R in SMEI. Ref.36
Corresponds to variant rs121917919 [ dbSNP | Ensembl ].
VAR_064319
Natural variant15961R → C Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. Ref.35
Corresponds to variant rs121917993 [ dbSNP | Ensembl ].
VAR_043368
Natural variant16081D → Y in SMEI. Ref.36
Corresponds to variant rs121917915 [ dbSNP | Ensembl ].
VAR_064320
Natural variant16111V → F in ICEGTC. Ref.15
Corresponds to variant rs121918630 [ dbSNP | Ensembl ].
VAR_029706
Natural variant16121V → I in SMEI. Ref.46 Ref.54
Corresponds to variant rs121918808 [ dbSNP | Ensembl ].
VAR_064267
Natural variant16301V → M in SMEI. Ref.36
Corresponds to variant rs121917914 [ dbSNP | Ensembl ].
VAR_064321
Natural variant16321P → S in ICEGTC. Ref.15
Corresponds to variant rs121918755 [ dbSNP | Ensembl ].
VAR_029707
Natural variant16361R → Q Probable disease-associated mutation found in a patient with Lennon-Gastaut syndrome. Ref.35 Ref.51
Corresponds to variant rs121917995 [ dbSNP | Ensembl ].
VAR_043369
Natural variant16371V → E Detected in a child with febrile status epilepticus and liver failure. Ref.47
Corresponds to variant rs121918810 [ dbSNP | Ensembl ].
VAR_064268
Natural variant16451R → Q in SMEI. Ref.33 Ref.35 Ref.51
Corresponds to variant rs121917976 [ dbSNP | Ensembl ].
VAR_064269
Natural variant16481R → C in SMEI. Ref.14
Corresponds to variant rs121918791 [ dbSNP | Ensembl ].
VAR_029708
Natural variant16481R → H in GEFS+2 and SMEI. Ref.1 Ref.52
Corresponds to variant rs121918622 [ dbSNP | Ensembl ].
VAR_010111
Natural variant16491L → Q in FHM3. Ref.38
VAR_064322
Natural variant16561I → M in GEFS+2; exhibits a depolarizing shift in the voltage dependence of activation. Ref.9 Ref.18
Corresponds to variant rs121917955 [ dbSNP | Ensembl ].
VAR_014273
Natural variant16571R → 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. Ref.18
Corresponds to variant rs121918811 [ dbSNP | Ensembl ].
VAR_029709
Natural variant16571R → H Probable disease-associated mutation found in a patient with cryptogenic focal epilepsy. Ref.35 Ref.51
Corresponds to variant rs121917994 [ dbSNP | Ensembl ].
VAR_043370
Natural variant16581T → M in SMEI. Ref.52
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064270
Natural variant16581T → R in SMEI. Ref.36
Corresponds to variant rs121917922 [ dbSNP | Ensembl ].
VAR_064323
Natural variant16611F → S in SMEI. Ref.17
Corresponds to variant rs121918797 [ dbSNP | Ensembl ].
VAR_029710
Natural variant16641M → K in SMEI. Ref.52
Corresponds to variant rs121918765 [ dbSNP | Ensembl ].
VAR_064271
Natural variant16681P → A in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917948 [ dbSNP | Ensembl ].
VAR_029711
Natural variant16741G → R in SMEI. Ref.14
Corresponds to variant rs121918792 [ dbSNP | Ensembl ].
VAR_029712
Natural variant16851A → D in SMEI. Ref.15
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029714
Natural variant16851A → V in GEFS+2; complete loss of function. Ref.12 Ref.18
Corresponds to variant rs121918744 [ dbSNP | Ensembl ].
VAR_029715
Natural variant16871F → S in GEFS+2. Ref.36
Corresponds to variant rs121917932 [ dbSNP | Ensembl ].
VAR_064324
Natural variant16921F → S in SMEI. Ref.22
Corresponds to variant rs121918778 [ dbSNP | Ensembl ].
VAR_029716
Natural variant16941Y → C in SMEI. Ref.22
Corresponds to variant rs121918777 [ dbSNP | Ensembl ].
VAR_029713
Natural variant17071F → V in SMEI. Ref.35
Corresponds to variant rs121917977 [ dbSNP | Ensembl ].
VAR_064349
Natural variant17091T → I in ICEGTC. Ref.15
Corresponds to variant rs121918629 [ dbSNP | Ensembl ].
VAR_029717
Natural variant17131S → N in SMEI. Ref.25
Corresponds to variant rs121918816 [ dbSNP | Ensembl ].
VAR_064325
Natural variant17141M → R in SMEI. Ref.31
Corresponds to variant rs121917949 [ dbSNP | Ensembl ].
VAR_064326
Natural variant17161C → R in SMEI. Ref.36
Corresponds to variant rs121917926 [ dbSNP | Ensembl ].
VAR_064327
Natural variant17211T → R in SMEI. Ref.35
Corresponds to variant rs121917978 [ dbSNP | Ensembl ].
VAR_064350
Natural variant17261W → R in SMEI. Ref.51
Corresponds to variant rs121917979 [ dbSNP | Ensembl ].
VAR_064272
Natural variant17421D → G in GEFS+2. Ref.30
Corresponds to variant rs121918812 [ dbSNP | Ensembl ].
VAR_057998
Natural variant17491G → E in SMEI. Ref.17
Corresponds to variant rs121918798 [ dbSNP | Ensembl ].
VAR_029718
Natural variant17561C → G in SMEI. Ref.46 Ref.54
Corresponds to variant rs121918809 [ dbSNP | Ensembl ].
VAR_064273
Natural variant17621G → E in SMEI. Ref.31
Corresponds to variant rs121917950 [ dbSNP | Ensembl ].
VAR_064328
Natural variant17661Missing in SMEI. Ref.22
VAR_029719
Natural variant17731S → F in SMEI. Ref.31
Corresponds to variant rs121917951 [ dbSNP | Ensembl ].
VAR_064329
Natural variant17801M → T in SMEI. Ref.20 Ref.31
Corresponds to variant rs121917952 [ dbSNP | Ensembl ].
VAR_029720
Natural variant17811Y → C in SMEI. Ref.22
Corresponds to variant rs121918779 [ dbSNP | Ensembl ].
VAR_029721
Natural variant17821I → M in SMEI. Ref.52
Corresponds to variant rs121918763 [ dbSNP | Ensembl ].
VAR_064274
Natural variant17831A → T in SMEI. Ref.50 Ref.51
Corresponds to variant rs121917980 [ dbSNP | Ensembl ].
VAR_064275
Natural variant17831A → V in SMEI. Ref.36
Corresponds to variant rs121917921 [ dbSNP | Ensembl ].
VAR_064345
Natural variant17871E → K in SMEI. Ref.36
Corresponds to variant rs121917916 [ dbSNP | Ensembl ].
VAR_064330
Natural variant17951E → K in GEFS+2. Ref.53
Corresponds to variant rs121918813 [ dbSNP | Ensembl ].
VAR_064276
Natural variant1807 – 18104Missing in SMEI.
VAR_029722
Natural variant18081F → L in ICEGTC. Ref.15
Corresponds to variant rs121918757 [ dbSNP | Ensembl ].
VAR_029723
Natural variant1812 – 18154WEKF → C in SMEI.
VAR_029725
Natural variant18121W → G in SMEI. Ref.15
Corresponds to variant rs121918751 [ dbSNP | Ensembl ].
VAR_029724
Natural variant18311F → S in SMEI. Ref.15
Corresponds to variant rs121918748 [ dbSNP | Ensembl ].
VAR_029726
Natural variant18521M → T in GEFS+2. Ref.16
Corresponds to variant rs121918783 [ dbSNP | Ensembl ].
VAR_029727
Natural variant18571V → L in GEFS+2. Ref.26
Corresponds to variant rs121918814 [ dbSNP | Ensembl ].
VAR_057999
Natural variant18661D → 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. Ref.23
Corresponds to variant rs121918815 [ dbSNP | Ensembl ].
VAR_058000
Natural variant18811E → D in SMEI. Ref.21
Corresponds to variant rs121918804 [ dbSNP | Ensembl ].
VAR_029728
Natural variant19091T → I in SMEI. Ref.14
Corresponds to variant rs121918793 [ dbSNP | Ensembl ].
VAR_029729
Natural variant19221I → T in SMEI. Ref.35
Corresponds to variant rs121917981 [ dbSNP | Ensembl ].
VAR_064351
Natural variant19281R → G. Ref.9 Ref.40
Corresponds to variant rs121917956 [ dbSNP | Ensembl ].
VAR_043371
Natural variant19551I → T Associated with autism. Ref.19
Corresponds to variant rs35735053 [ dbSNP | Ensembl ].
VAR_029730
Natural variant19571E → G in infantile spasms. Ref.21
Corresponds to variant rs121918802 [ dbSNP | Ensembl ].
VAR_029731

Experimental info

Sequence conflict6701E → G in AAK00217. Ref.2
Sequence conflict7461L → S in AAK00217. Ref.2
Sequence conflict9301P → PQ in AAK00217. Ref.2
Sequence conflict1158 – 11614DIGA → GHRR in AAK00217. Ref.2
Sequence conflict15371F → L in CAA46439. Ref.7
Sequence conflict15371F → L in M91803. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 8, 2000. Version 2.
Checksum: 0593A6730F33C9A2

FASTA2,009228,972
        10         20         30         40         50         60 
MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 

        70         80         90        100        110        120 
LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 

       130        140        150        160        170        180 
AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 

       190        200        210        220        230        240 
EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 

       250        260        270        280        290        300 
IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 

       310        320        330        340        350        360 
NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 

       370        380        390        400        410        420 
GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 

       430        440        450        460        470        480 
VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 

       490        500        510        520        530        540 
DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 

       550        560        570        580        590        600 
NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 

       610        620        630        640        650        660 
NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 

       670        680        690        700        710        720 
TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL 

       730        740        750        760        770        780 
TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL 

       790        800        810        820        830        840 
NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV 

       850        860        870        880        890        900 
TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 

       910        920        930        940        950        960 
VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM 

       970        980        990       1000       1010       1020 
EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH 

      1030       1040       1050       1060       1070       1080 
KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN 

      1090       1100       1110       1120       1130       1140 
GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE 

      1150       1160       1170       1180       1190       1200 
SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 

      1210       1220       1230       1240       1250       1260 
GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT 

      1270       1280       1290       1300       1310       1320 
YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA 

      1330       1340       1350       1360       1370       1380 
LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT 

      1390       1400       1410       1420       1430       1440 
TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA 

      1450       1460       1470       1480       1490       1500 
AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 

      1510       1520       1530       1540       1550       1560 
TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV 

      1570       1580       1590       1600       1610       1620 
ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF 

      1630       1640       1650       1660       1670       1680 
LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV 

      1690       1700       1710       1720       1730       1740 
MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD 

      1750       1760       1770       1780       1790       1800 
CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 

      1810       1820       1830       1840       1850       1860 
SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD 

      1870       1880       1890       1900       1910       1920 
RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV 

      1930       1940       1950       1960       1970       1980 
IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA 

      1990       2000 
ACPPSYDRVT KPIVEKHEQE GKDEKAKGK 

« Hide

Isoform 2 [UniParc].

Checksum: 44B35678ED6346A8
Show »

FASTA1,998227,789
Isoform 3 [UniParc].

Checksum: 6F4BAFB6F60F62DB
Show »

FASTA1,981226,174

References

« Hide 'large scale' references
[1]"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2."
Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A.
Nat. Genet. 24:343-345(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GEFS+2 MET-875 AND HIS-1648.
[2]"Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN1A."
Jeong S.-Y., Goto J., Kanazawa I.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]"Homo sapiens neuronal voltage-gated sodium channel type I (Nav1.1) mRNA."
Sugawara T., Mazaki E.M., Yamakawa K.
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[4]"Isoforms of human sodium channel SCN1A gene."
Ouchida M., Ohmori I.
Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-1067, ALTERNATIVE SPLICING.
Tissue: Brain.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24."
Malo M.S., Blanchard B.J., Andresen J.M., Srivastava K., Chen X.N., Li X., Jabs E.W., Korenberg J.R., Ingram V.M.
Cytogenet. Cell Genet. 67:178-186(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1335-1428.
[7]"Differential expression of two sodium channel subtypes in human brain."
Lu C.-M., Han J., Rado T.A., Brown G.B.
FEBS Lett. 303:53-58(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1518-1940.
Tissue: Brain.
[8]"Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels."
Wang C., Wang C., Hoch E.G., Pitt G.S.
J. Biol. Chem. 286:24253-24263(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FGF13.
[9]"Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus."
Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L. Jr., Mulley J.C., Berkovic S.F.
Am. J. Hum. Genet. 68:859-865(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GEFS+2 VAL-188; LEU-1353 AND MET-1656, VARIANTS THR-1067 AND GLY-1928.
[10]"A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy."
Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H.
Am. J. Hum. Genet. 68:866-873(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 ARG-1204.
[11]"De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy."
Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P.
Am. J. Hum. Genet. 68:1327-1332(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMEI PHE-986.
[12]"Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures."
Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K.
Neurology 57:703-705(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GEFS+2 ALA-1428 AND VAL-1685.
[13]"Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation."
Abou-Khalil B., Ge Q., Desai R., Ryther R., Bazyk A., Bailey R., Haines J.L., Sutcliffe J.S., George A.L. Jr.
Neurology 57:2265-2272(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 THR-1270.
[14]"Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy."
Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.
Biochem. Biophys. Res. Commun. 295:17-23(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909, VARIANT THR-1067.
[15]"Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures."
Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y.
Brain 126:531-546(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985; ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND SER-1831, VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632; ILE-1709 AND LEU-1808, VARIANT THR-1067.
[16]"Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus."
Annesi G., Gambardella A., Carrideo S., Incorpora G., Labate A., Pasqua A.A., Civitelli D., Polizzi A., Annesi F., Spadafora P., Tarantino P., Ciro Candiano I.C., Romeo N., De Marco E.V., Ventura P., LePiane E., Zappia M., Aguglia U., Pavone L., Quattrone A.
Epilepsia 44:1257-1258(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GEFS+2 CYS-790 AND THR-1852.
[17]"De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy."
Claes L., Ceulemans B., Audenaert D., Smets K., Loefgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P.
Hum. Mutat. 21:615-621(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI HIS-393; GLN-939; ARG-959; ARG-1434; SER-1661 AND GLU-1749.
[18]"Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A."
Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., Devinsky O., George A.L. Jr.
J. Neurosci. 23:11289-11295(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 CYS-1657, CHARACTERIZATION OF VARIANTS GEFS+2 LEU-1353; MET-1656; CYS-1657 AND VAL-1685, CHARACTERIZATION OF VARIANT SMEI PHE-986.
[19]"Sodium channels SCN1A, SCN2A and SCN3A in familial autism."
Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H.
Mol. Psychiatry 8:186-194(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955.
[20]"Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy."
Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L., Matricardi A. expand/collapse author list , Romeo A., Tzolas V., Valseriati D., Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F.
Neurology 60:1961-1967(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 DELINS CYS.
[21]"Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms."
Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E.
Neurology 61:765-769(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI PRO-1326 AND ASP-1881, VARIANT INFANTILE SPASMS GLY-1957.
[22]"Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)."
Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S., Ohfu M., Inoue T., Watanachai A., Kira R., Matsuo M., Muranaka H., Sofue F., Zhang B., Kaneko S., Mitsudome A., Hirose S.
Epilepsia 45:140-148(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI GLN-101; ARG-190; ILE-934; ALA-944; CYS-946; HIS-946; PRO-1355; MET-1559 DEL; SER-1692; CYS-1694; PHE-1766 DEL AND CYS-1781.
[23]"A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction."
Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P., Montalenti E., Isom L.L., Goldin A.L., Meisler M.H.
J. Neurosci. 24:10022-10034(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 TYR-1866, CHARACTERIZATION OF VARIANT GEFS+2 TYR-1866.
[24]"Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy."
Ceulemans B.P.G.M., Claes L.R.F., Lagae L.G.
Pediatr. Neurol. 30:236-243(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMEI ASN-252.
[25]"A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures."
Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y., Tateno A., Hachimori K., Yamakawa K., Segawa M.
Brain Dev. 27:424-430(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMEI ASN-1713, VARIANT THR-1067.
[26]"A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures."
Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T., Yamakawa K.
Epilepsy Res. 63:151-156(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 LEU-1857.
[27]"Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine."
Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M., Strom T.M.
Lancet 366:371-377(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FHM3 LYS-1489.
[28]"SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures."
Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B., Hahn A., Hauser E., Hundt K., Holthausen H., Mueller U., Neubauer B.A.
Neuropediatrics 36:210-213(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMEI SER-946.
[29]"Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures."
Mantegazza M., Gambardella A., Rusconi R., Schiavon E., Annesi F., Cassulini R.R., Labate A., Carrideo S., Chifari R., Canevini M.P., Canger R., Franceschetti S., Annesi G., Wanke E., Quattrone A.
Proc. Natl. Acad. Sci. U.S.A. 102:18177-18182(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FEB3A THR-145, CHARACTERIZATION OF VARIANT FEB3A THR-145.
[30]"A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree."
Pineda-Trujillo N., Carrizosa J., Cornejo W., Arias W., Franco C., Cabrera D., Bedoya G., Ruiz-Linares A.
Seizure 14:123-128(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 GLY-1742.
[31]"Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations."
Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R., Scapolan S., Dalla Bernardina B., Bertini E., Bianchi A., Capovilla G., Darra F., Elia M., Freri E., Gobbi G., Granata T., Guerrini R., Pantaleoni C., Parmeggiani A. expand/collapse author list , Romeo A., Santucci M., Vecchi M., Veggiotti P., Vigevano F., Pistorio A., Gaggero R., Zara F.
Epilepsia 47:1629-1635(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280; LEU-383; CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942; ARG-1233; GLN-1245; CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475; ALA-1668; ARG-1714; GLU-1762; PHE-1773 AND THR-1780.
[32]"An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability."
Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A., Helmers S.L., Goldin A.L., Escayg A.
J. Neurosci. 26:2714-2723(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 CYS-859, CHARACTERIZATION OF VARIANT GEFS+2 CYS-859.
[33]"De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study."
Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M., Wirrell E.C., Gill D.S., Iona X., Mulley J.C., Scheffer I.E.
Lancet Neurol. 5:488-492(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI LEU-403; ASN-413; HIS-946; ASP-1238; GLY-1396 AND GLN-1645.
[34]"Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy."
Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D., Meisler M.H., Escayg A.
Pediatr. Neurol. 34:116-120(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMEI THR-1231.
[35]"The spectrum of SCN1A-related infantile epileptic encephalopathies."
The infantile epileptic encephalopathy referral consortium
Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Seltzer W.K. expand/collapse author list , Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E.
Brain 130:843-852(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CYS-393; PRO-395; GLU-422; GLY-626; VAL-973; VAL-1480; SER-1543; CYS-1596; GLN-1636 AND HIS-1657, VARIANTS SMEI HIS-79; CYS-84; TRP-101; ARG-199; MET-226; THR-239; LEU-403; ASN-413; PRO-783; GLU-944; LEU-945; GLU-950; ASP-1238; MET-1390; GLY-1396; PRO-1441; VAL-1545; GLN-1645; VAL-1707; ARG-1721 AND THR-1922.
[36]"Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities."
Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C., Dias A.I., Moreira A., Calado E., Seri S., Neville B., Narbona J., Reid E., Michelucci R., Sicca F., Cross H.J., Guerrini R.
Epilepsia 48:1678-1685(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393; LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658; ARG-1716; VAL-1783 AND LYS-1787, VARIANTS GEFS+2 PRO-74; ARG-1204 AND SER-1687.
[37]"Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation."
Osaka H., Ogiwara I., Mazaki E., Okamura N., Yamashita S., Iai M., Yamada M., Kurosawa K., Iwamoto H., Yasui-Furukori N., Kaneko S., Fujiwara T., Inoue Y., Yamakawa K.
Epilepsy Res. 75:46-51(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 ILE-1366, VARIANT ICEGTC ILE-1366.
[38]"The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online."
Vanmolkot K.R., Babini E., de Vries B., Stam A.H., Freilinger T., Terwindt G.M., Norris L., Haan J., Frants R.R., Ramadan N.M., Ferrari M.D., Pusch M., van den Maagdenberg A.M., Dichgans M.
Hum. Mutat. 28:522-522(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FHM3 GLN-1649.
[39]"Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3."
Gargus J.J., Tournay A.
Pediatr. Neurol. 37:407-410(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FHM3 SER-1174.
[40]"Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified."
Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M., Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G., Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R., Bresolin N., Bassi M.T.
Arch. Neurol. 65:489-494(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI SER-118; GLU-366; PRO-1207; MET-1335; SER-1358 AND CYS-1462, VARIANT GEFS+2 GLN-377, VARIANT GLY-1928.
[41]"Rasmussen encephalitis associated with SCN 1 A mutation."
Ohmori I., Ouchida M., Kobayashi K., Jitsumori Y., Inoue T., Shimizu K., Matsui H., Ohtsuka Y., Maegaki Y.
Epilepsia 49:521-526(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-1575.
[42]"Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population."
Lakhan R., Kumari R., Misra U.K., Kalita J., Pradhan S., Mittal B.
Br. J. Clin. Pharmacol. 68:214-220(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-1067.
[43]"Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations."
Vahedi K., Depienne C., Le Fort D., Riant F., Chaine P., Trouillard O., Gaudric A., Morris M.A., LeGuern E., Tournier-Lasserve E., Bousser M.-G.
Neurology 72:1178-1183(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FHM3 HIS-1489 AND LEU-1499.
[44]"Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A."
Mahoney K., Moore S.J., Buckley D., Alam M., Parfrey P., Penney S., Merner N., Hodgkinson K., Young T.L.
Seizure 18:492-497(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 HIS-388.
[45]"Two novel mutations in SCN1A gene in Iranian patients with epilepsy."
Ebrahimi A., Houshmand M., Tonekaboni S.H., Fallah Mahboob Passand M.S., Zainali S., Moghadasi M.
Arch. Med. Res. 41:207-214(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT THR-1067.
[46]"Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients."
Herini E.S., Gunadi Harahap I.S., Yusoff S., Morikawa S., Patria S.Y., Nishimura N., Sunartini Sutaryo S., Takada S., Matsuo M., Nishio H.
Epilepsy Res. 90:132-139(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI ILE-1612 AND GLY-1756.
[47]"Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation."
Nishri D., Blumkin L., Lev D., Leshinsky-Silver E., Abu-Rashid M., Birch R., Zuberi S.M., Lerman-Sagie T.
Eur. J. Paediatr. Neurol. 14:456-459(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLU-1637.
[48]"Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)."
Arlier Z., Bayri Y., Kolb L.E., Erturk O., Ozturk A.K., Bayrakli F., Bilguvar K., Moliterno J.A., Dervent A., Demirbilek V., Yalcinkaya C., Korkmaz B., Tuysuz B., Gunel M.
J. Child Neurol. 25:1265-1268(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI GLN-862 AND LYS-954.
[49]"Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)."
Nicita F., Spalice A., Papetti L., Ursitti F., Parisi P., Gennaro E., Zara F., Iannetti P.
J. Child Neurol. 25:1369-1376(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 THR-27, VARIANTS SMEI LEU-63; VAL-239; ASP-1308 AND ARG-1433.
[50]"Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome."
Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., Jiang Y., Qi Y., Wu X.
J. Hum. Genet. 55:421-427(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI SER-90; THR-91; TRP-101; GLN-101; THR-239; ARG-259; HIS-393; TYR-939; GLY-952; LYS-1210; PRO-1260; PRO-1287; MET-1335; MET-1390; GLU-1433; GLU-1586 AND THR-1783.
[51]"De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin."
Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R., McMahon J.M., Bruce C.M., Berkovic S.F., Mulley J.C.
J. Med. Genet. 47:137-141(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227; PHE-406; ASN-413; HIS-604; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950; GLY-1396; LYS-1450; VAL-1545; GLN-1645; ARG-1726 AND THR-1783, VARIANTS GLN-1636 AND HIS-1657.
[52]"Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome."
Depienne C., Trouillard O., Gourfinkel-An I., Saint-Martin C., Bouteiller D., Graber D., Barthez-Carpentier M.A., Gautier A., Villeneuve N., Dravet C., Livet M.O., Rivier-Ringenbach C., Adam C., Dupont S., Baulac S., Heron D., Nabbout R., Leguern E.
J. Med. Genet. 47:404-410(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI ASN-124; TYR-191; LYS-875; LYS-1367; SER-1514; HIS-1648; MET-1658; LYS-1664 AND MET-1782.
[53]"Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus."
Li N., Zhang J., Guo J.F., Yan X.X., Xia K., Tang B.S.
Neurosci. Lett. 480:211-214(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 LYS-1795.
[54]"Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy."
Herini E.S., Gunadi H., van Kempen M.J., Yusoff S., Sutaryo S., Patria S.Y., Matsuo M., Lindhout D., Nishio H.
Pediatr. Int. 52:234-239(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SMEI ILE-1612 AND GLY-1756.
[55]"Generalized epilepsy with febrile seizures plus: novel SCN1A mutation."
Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremenski I.
Pediatr. Neurol. 42:137-140(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GEFS+2 PHE-1309.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF225985 mRNA. Translation: AAK00217.1.
AY043484 mRNA. Translation: AAK95360.1.
AB093548 mRNA. Translation: BAC21101.1.
AB093549 mRNA. Translation: BAC21102.1.
AB098335 mRNA. Translation: BAC45228.1.
AC010127 Genomic DNA. Translation: AAX81984.1.
S71446 Genomic DNA. Translation: AAB31605.1.
X65362 mRNA. Translation: CAA46439.1.
M91803 mRNA. No translation available.
PIRI52964.
S29184.
RefSeqNP_001159435.1. NM_001165963.1.
NP_001159436.1. NM_001165964.1.
NP_001189364.1. NM_001202435.1.
NP_008851.3. NM_006920.4.
UniGeneHs.22654.

3D structure databases

ProteinModelPortalP35498.
SMRP35498. Positions 124-269, 364-425, 778-992, 1208-1484, 1534-1942.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112228. 3 interactions.
DIPDIP-59851N.
IntActP35498. 2 interactions.
MINTMINT-6542725.
STRING9606.ENSP00000364554.

Chemistry

BindingDBP35498.
ChEMBLCHEMBL2331043.
DrugBankDB00555. Lamotrigine.
DB01202. Levetiracetam.
DB01121. Phenacemide.
DB00252. Phenytoin.
DB00273. Topiramate.
DB00909. Zonisamide.
GuidetoPHARMACOLOGY578.

Protein family/group databases

TCDB1.A.1.10.7. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteP35498.

Polymorphism databases

DMDM12644229.

Proteomic databases

PaxDbP35498.
PRIDEP35498.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303395; ENSP00000303540; ENSG00000144285. [P35498-1]
ENST00000375405; ENSP00000364554; ENSG00000144285. [P35498-2]
ENST00000409050; ENSP00000386312; ENSG00000144285. [P35498-3]
ENST00000423058; ENSP00000407030; ENSG00000144285. [P35498-1]
GeneID6323.
KEGGhsa:6323.
UCSCuc002udo.4. human. [P35498-1]
uc021vsb.1. human. [P35498-2]

Organism-specific databases

CTD6323.
GeneCardsGC02M166809.
HGNCHGNC:10585. SCN1A.
HPAHPA034686.
MIM182389. gene.
604403. phenotype.
607208. phenotype.
609634. phenotype.
neXtProtNX_P35498.
Orphanet33069. Dravet syndrome.
1942. Epilepsy with myoclonic-astatic seizures.
569. Familial or sporadic hemiplegic migraine.
36387. Generalized epilepsy with febrile seizures-plus context.
2382. Lennox-Gastaut syndrome.
293181. Malignant migrating partial seizures of infancy.
PharmGKBPA301.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOGENOMHOG000231755.
HOVERGENHBG053100.
InParanoidP35498.
KOK04833.
OMATVFEFDW.
OrthoDBEOG7DJSK9.
PhylomeDBP35498.
TreeFamTF323985.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressP35498.
BgeeP35498.
CleanExHS_SCN1A.
GenevestigatorP35498.

Family and domain databases

Gene3D1.20.120.350. 4 hits.
InterProIPR027359. Channel_four-helix_dom.
IPR024583. DUF3451.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR008051. Na_channel_a1su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PfamPF11933. DUF3451. 1 hit.
PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSPR00170. NACHANNEL.
PR01664. NACHANNEL1.
SMARTSM00015. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNav1.1.
GenomeRNAi6323.
NextBio24538.
PROP35498.
SOURCESearch...

Entry information

Entry nameSCN1A_HUMAN
AccessionPrimary (citable) accession number: P35498
Secondary accession number(s): E9PG49 expand/collapse secondary AC list , Q16172, Q585T7, Q8IUJ6, Q96LA3, Q9C008
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: December 8, 2000
Last modified: April 16, 2014
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM