AGT (Angiotensinogen) variants and mutations

AGT (also known as Angiotensinogen) is a human protein-coding gene encoding an angiotensinogen protein. It provides the precursor from which renin generates angiotensin I, placing it at the start of the renin-angiotensin system that regulates blood pressure and fluid balance. Rare variants can cause renal tubular dysgenesis, while common variation has been studied for effects on blood pressure. This analysis covers 848 AGT variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes primary hyperoxaluria type 1, primary hyperoxaluria, and alanine glyoxylate aminotransferase deficiency. Example AGT variants include A2T, P3S, and A4P.

Variant analysis overview

Gene: AGT
Protein: Angiotensinogen
UniProt accession: P01019
Organism: Homo sapiens
Variants analyzed: 848
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 597 unspecified-consequence records; 3 in-frame deletions; 119 missense variants; 1 stop retained variant; 101 synonymous variants; 15 frameshift variants; 6 stop-gained variants; 4 splice-region variants; 1 in-frame insertions; 1 substitution
Prediction scores: 658 variants have prediction scores (78% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: primary hyperoxaluria type 1, primary hyperoxaluria, alanine glyoxylate aminotransferase deficiency, hereditary disease, Hyperoxaluria, nephrocalcinosis, nephrolithiasis, nephrotic syndrome, Abnormality of metabolism/homeostasis, cardiac arrhythmia, Severe combined immunodeficiency due to adenosine deaminase deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n.

Protein structure and variant hotspots

Protein features: 5 post-translational modification sites.
PTM context: 9 variants overlap post-translational modification sites.

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, ClinGen, MaveDB, LitVar.

Notable AGT variants

Examples include A2T, P3S, A4P, A4T, A4V, G5A, G5R, G5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

AGT analysis run — AGT (848 variants) — completed 2026-08-19