NAT2 (Arylamine N-acetyltransferase 2) variants and mutations

NAT2 (also known as Arylamine N-acetyltransferase 2) is a human protein-coding gene encoding an arylamine N-acetyltransferase 2 protein. It acetylates isoniazid and multiple aromatic amines, with common alleles producing slow, intermediate, or rapid acetylator phenotypes. These differences strongly influence isoniazid exposure and the risks of hepatotoxicity and other treatment-related adverse effects. This analysis covers 800 NAT2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes neurodegenerative disease, facial nerve disorder, and vestibular neuronitis. Example NAT2 variants include D2G, D2H, and D2D.

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 NAT2 variants

Examples include D2G, D2H, D2D, I3N, I3T, I3V, E4D, E4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.