CPS1 (P31327) variants and mutations

CPS1 (also known as P31327) is a human protein-coding gene encoding a carbamoyl-phosphate synthase [ammonia], mitochondrial protein. It catalyzes the first committed step of the hepatic urea cycle, incorporating ammonia into carbamoyl phosphate within mitochondria. Biallelic loss-of-function variants cause carbamoyl-phosphate synthetase I deficiency, which can produce life-threatening hyperammonemia. This analysis covers 2,597 CPS1 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes carbamoyl phosphate synthetase I deficiency disease, Abnormality of the skeletal system, and Hyperammonemia. Example CPS1 variants include T2A, T2M, and T2T.

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 CPS1 variants

Examples include T2A, T2M, T2T, R3K, R3M, R3R, I4M, I4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.