PRKG1 (cGMP-dependent protein kinase 1) variants and mutations

PRKG1 (also known as cGMP-dependent protein kinase 1) is a human protein-coding gene encoding a cGMP-dependent protein kinase 1 protein. It transduces cyclic-GMP signals from nitric oxide and natriuretic peptides to promote vascular smooth-muscle relaxation and regulate vascular tone. A recurrent activating variant causes highly penetrant familial thoracic aortic aneurysm and dissection. This analysis covers 1,048 PRKG1 variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes familial thoracic aortic aneurysm and aortic dissection, Rare genetic vascular disease, and dengue disease. Example PRKG1 variants include S2N, S2T, and S2R.

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 PRKG1 variants

Examples include S2N, S2T, S2R, E3Q, E3D, E3E, L4P, L4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.