RHO (Rhodopsin) variants and mutations

RHO (also known as Rhodopsin) is a human protein-coding gene encoding a rhodopsin protein. Photon absorption converts its retinal chromophore and triggers the G-protein cascade that initiates rod phototransduction. Pathogenic variants are a major cause of autosomal dominant retinitis pigmentosa and can also cause congenital stationary night blindness. This analysis covers 839 RHO variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes insomnia, prostate carcinoma, and hypersomnia. Example RHO variants include M1V, N2S, and N2D.

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 RHO variants

Examples include M1V, N2S, N2D, G3D, G3G, T4A, T4K, E5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.