KCNQ5 (Q9NR82) variants and mutations

KCNQ5 (also known as Q9NR82) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily KQT member 5 protein. Its slowly activating potassium current helps stabilize membrane excitability in neurons and smooth muscle. Pathogenic variants can cause neurodevelopmental disorders with intellectual disability and epilepsy, with both gain- and loss-of-function mechanisms reported. This analysis covers 1,571 KCNQ5 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 46, multiple sclerosis, and Lambert-Eaton myasthenic syndrome. Example KCNQ5 variants include M1T, P2R, and P2S.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KCNQ5 variants

Examples include M1T, P2R, P2S, P2T, P2H, P2L, P2P, R3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.