AlphaFold predicted structure
SCN1A · P35498
Mean pLDDT
68.5/ 100
Low
2,009 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)45%
- Low(50–70)13%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SCN1A
Chr 2q24.3sodium voltage-gated channel alpha subunit 1
- Aliases:
- Nav1.1, GEFSP2, HBSCI, NAC1, SMEI
- MANE:
- ENST00000674923.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBrain channelopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
Dravet syndrome
0.88generalized epilepsy with febrile seizures plus, type 2
0.84Generalized epilepsy with febrile seizures-plus
0.84epilepsy
0.80migraine, familial hemiplegic, 3
0.79genetic developmental and epileptic encephalopathy
0.77Seizure
0.75encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
0.72Lennox-Gastaut syndrome
0.68febrile seizures, familial, 3a
0.68
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium channel protein type 1 subunit alpha
Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:14672992). By regulating the excitability of neurons, ensures that they respond appropriately to synaptic inputs, maintaining the balance between excitation and inhibition in brain neural circuits (By similarity). Nav1.1 plays a role in controlling the excitability and action potential propagation from somatosensory neurons, thereby contributing to the sensory perception of mechanically-induced pain (By similarity)
Diseases associated with SCN1A
Curated MONDO disease pages that list SCN1A among their top associated genes.