ACVRL1 (Activin receptor type-1-like) variants and mutations

ACVRL1 (also known as Activin receptor type-1-like) is a human protein-coding gene encoding an activin receptor type-1-like protein. It mediates BMP9 and BMP10 signaling in vascular endothelial cells and helps maintain normal vessel maturation and quiescence. Heterozygous loss-of-function variants cause hereditary hemorrhagic telangiectasia type 2, with telangiectasias and arteriovenous malformations. This analysis covers 1,141 ACVRL1 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes hereditary hemorrhagic telangiectasia, telangiectasia, hereditary hemorrhagic, type 2, and pulmonary arterial hypertension. Example ACVRL1 variants include T2I, T2P, and T2T.

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, ClinGen, MaveDB, LitVar.

Notable ACVRL1 variants

Examples include T2I, T2P, T2T, L3F, L3L, G4C, G4D, G4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.