AGTR1 (Type-1 angiotensin II receptor) variants and mutations

AGTR1 (also known as Type-1 angiotensin II receptor) is a human protein-coding gene encoding a type-1 angiotensin II receptor protein. Its activation by angiotensin II promotes vasoconstriction, aldosterone release, sodium retention, and vascular remodeling. Excessive signaling contributes to hypertension and cardiovascular disease, and the pathway is therapeutically blocked by angiotensin-receptor blockers. This analysis covers 887 AGTR1 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes renal tubular dysgenesis, hypertensive disorder, and renal tubular dysgenesis of genetic origin. Example AGTR1 variants include M1?, I2F, and I2S.

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 AGTR1 variants

Examples include M1?, I2F, I2S, I2V, I2I, L3I, L3L, N4H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.