GNAT1 (P11488) variants and mutations

GNAT1 (also known as P11488) is a human protein-coding gene encoding a guanine nucleotide-binding protein G(t) subunit alpha-1 protein. It transduces the light-activated rhodopsin signal in rod photoreceptors, activating phosphodiesterase and lowering cGMP to initiate visual responses. Pathogenic variants can cause congenital stationary night blindness or autosomal dominant rod-cone degeneration. This analysis covers 719 GNAT1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness, and congenital stationary night blindness 1G. Example GNAT1 variants include M1?, M1I, and M1V.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GNAT1 variants

Examples include M1?, M1I, M1V, G2V, G2G, A3T, A3D, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.