CHRNA4 (P43681) variants and mutations

CHRNA4 (also known as P43681) is a human protein-coding gene encoding a neuronal acetylcholine receptor subunit alpha-4 protein. It contributes to neuronal nicotinic acetylcholine responses that regulate excitability and neurotransmitter release. Dominant gain-of-function variants classically cause sleep-related hypermotor epilepsy, formerly termed autosomal dominant nocturnal frontal-lobe epilepsy. This analysis covers 1,393 CHRNA4 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes nicotine dependence, autosomal dominant nocturnal frontal lobe epilepsy, and chronic obstructive pulmonary disease. Example CHRNA4 variants include M1L, M1T, and E2D.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CHRNA4 variants

Examples include M1L, M1T, E2D, E2G, E2Q, L3Q, L3R, G4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.