RP2 (Protein XRP2) variants and mutations

RP2 (also known as Protein XRP2) is a human protein-coding gene encoding a protein XRP2 protein. It regulates small-GTPase and ciliary trafficking processes required for photoreceptor maintenance. Loss-of-function variants cause X-linked retinitis pigmentosa, often with early-onset and severe rod-cone degeneration. This analysis covers 661 RP2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes retinitis pigmentosa, retinitis pigmentosa 2, and Retinal dystrophy. Example RP2 variants include M1K, M1L, and M1R.

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, ClinGen, MaveDB, LitVar.

Notable RP2 variants

Examples include M1K, M1L, M1R, M1T, M1V, G2C, G2S, G2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.