IMPDH1 (P20839) variants and mutations

IMPDH1 (also known as P20839) is a human protein-coding gene encoding an inosine-5'-monophosphate dehydrogenase 1 protein. An enzyme that catalyzes a rate-limiting step in guanine-nucleotide synthesis. Specialized retinal isoforms help regulate nucleotide production in photoreceptors, and pathogenic variants can cause inherited retinal dystrophy. This analysis covers 12 IMPDH1 variants and mutations. Disease context includes retinitis pigmentosa, retinitis pigmentosa 10, and Leber congenital amaurosis. Example IMPDH1 variants include R105W, T116M, and N198K.

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, MaveDB, LitVar.

Diseases linked to IMPDH1

Notable IMPDH1 variants

Examples include R105W, T116M, N198K, R203R, C215G, R224P, D226N, Q243H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.