NAT1 (Arylamine N-acetyltransferase 1) variants and mutations

NAT1 (also known as Arylamine N-acetyltransferase 1) is a human protein-coding gene encoding an arylamine N-acetyltransferase 1 protein. It acetylates aromatic amines and related xenobiotics and participates in metabolism of selected endogenous substrates. Genetic variation can alter activity and exposure to some chemicals, although clinical pharmacogenomic effects are generally less established than for NAT2. This analysis covers 717 NAT1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes attention deficit-hyperactivity disorder, major depressive disorder, and depressive disorder. Example NAT1 variants include M1?, D2G, and D2Y.

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 NAT1 variants

Examples include M1?, D2G, D2Y, I3L, I3N, I3V, I3M, I3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.