ASS1 (Argininosuccinate synthase) variants and mutations

ASS1 (also known as Argininosuccinate synthase) is a human protein-coding gene encoding an argininosuccinate synthase protein. It catalyzes formation of argininosuccinate from citrulline and aspartate in the urea cycle, enabling nitrogen disposal and arginine synthesis. Biallelic loss-of-function variants cause citrullinemia type I, which can lead to severe hyperammonemia. This analysis covers 786 ASS1 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes citrullinemia type I, citrullinemia, and hereditary disease. Example ASS1 variants include M1I, M1V, and S2T.

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 ASS1 variants

Examples include M1I, M1V, S2T, S2*, S3N, S3I, S3G, S3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.