NOS3 (Nitric oxide synthase 3) variants and mutations

NOS3 (also known as Nitric oxide synthase 3) is a human protein-coding gene encoding a nitric oxide synthase 3 protein. It generates nitric oxide in vascular endothelium, promoting smooth-muscle relaxation, inhibiting platelet activation, and supporting vascular homeostasis. Reduced activity contributes to endothelial dysfunction, while common genetic variation has modest effects on cardiovascular traits. This analysis covers 1,667 NOS3 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes hypertensive disorder, essential hypertension, and myocardial infarction. Example NOS3 variants include G2D, G2A, and G2G.

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 NOS3 variants

Examples include G2D, G2A, G2G, N3N, L4F, K5N, K5R, K5K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.