RPGR (Q92834) variants and mutations

RPGR (also known as Q92834) is a human protein-coding gene encoding a x-linked retinitis pigmentosa GTPase regulator protein. It coordinates protein trafficking through the photoreceptor connecting cilium, which is essential for continual renewal of outer segments. Pathogenic variants are a major cause of X-linked retinitis pigmentosa and can also produce cone-rod dystrophy. This analysis covers 569 RPGR variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes retinitis pigmentosa, Cone rod dystrophy, and Primary ciliary dyskinesia - retinitis pigmentosa. Example RPGR variants include E3K, E6K, and G12S.

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 RPGR variants

Examples include E3K, E6K, G12S, A13D, A13V, K29E, D35V, H39R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.