ACE (Angiotensin-converting enzyme) variants and mutations

ACE (also known as Angiotensin-converting enzyme) is a human protein-coding gene encoding an angiotensin-converting enzyme protein. A membrane-associated enzyme that removes terminal dipeptides from hormones and signaling peptides, including angiotensin I and bradykinin. By generating angiotensin II and inactivating vasodilators, it helps regulate blood pressure, fluid balance, and aspects of nervous-system signaling. This analysis covers 2,145 ACE variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes diabetic nephropathy, hypertension, and renal tubular dysgenesis. Example ACE variants include M1I, M1R, and M1T.

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, PharmGKB, MaveDB, LitVar.

Notable ACE variants

Examples include M1I, M1R, M1T, G2E, G2R, G2V, G2W, G2G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.