NPPA (Natriuretic peptides A) variants and mutations

NPPA (also known as Natriuretic peptides A) is a human protein-coding gene encoding a natriuretic peptides A protein. It is processed to atrial natriuretic peptide, which promotes natriuresis, vasodilation, and suppression of the renin-angiotensin-aldosterone system in response to cardiac stretch. Pathogenic variants can cause familial atrial fibrillation or rare atrial cardiomyopathy phenotypes. This analysis covers 402 NPPA variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes familial atrial fibrillation, Atrial stand still, and AL amyloidosis. Example NPPA variants include S2S, S2T, and S3F.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NPPA variants

Examples include S2S, S2T, S3F, F4Y, S5P, S5T, p.Ser5del, S5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.