EDN1 (Endothelin-1) variants and mutations

EDN1 (also known as Endothelin-1) is a human protein-coding gene encoding an endothelin-1 protein. It is processed to endothelin-1, a potent vasoconstrictor that regulates vascular tone, blood pressure, and vascular remodeling. Excess signaling contributes to pulmonary arterial hypertension and other cardiovascular diseases and is targeted by endothelin-receptor antagonists. This analysis covers 459 EDN1 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes auriculocondylar syndrome, question mark ears, isolated, and colorectal cancer. Example EDN1 variants include D2H, D2Y, and D2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable EDN1 variants

Examples include D2H, D2Y, D2N, Y3C, L4W, L4L, L4F, L5P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.