NR2E3 (Q9Y5X4) variants and mutations

NR2E3 (also known as Q9Y5X4) is a human protein-coding gene encoding a photoreceptor-specific nuclear receptor protein. It directs rod-photoreceptor differentiation while repressing inappropriate cone gene programs during retinal development. Pathogenic variants cause enhanced S-cone syndrome, retinitis pigmentosa, and related inherited retinal dystrophies. This analysis covers 865 NR2E3 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes enhanced S-cone syndrome, retinitis pigmentosa 37, and retinitis pigmentosa. Example NR2E3 variants include M1K, M1R, and M1T.

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 NR2E3 variants

Examples include M1K, M1R, M1T, E2D, E2G, E2Q, E2K, E2*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.