NPPB (Natriuretic peptides B) variants and mutations

NPPB (also known as Natriuretic peptides B) is a human protein-coding gene encoding a natriuretic peptides B protein. It is processed to B-type natriuretic peptide, which is released in response to ventricular wall stress and promotes natriuresis and vasodilation. BNP and its inactive cleavage fragment NT-proBNP are widely used biomarkers for diagnosis and monitoring of heart failure. This analysis covers 351 NPPB variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes hypertensive disorder, Increased blood pressure, and neurodegenerative disease. Example NPPB variants include M1?, D2E, and D2H.

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 NPPB variants

Examples include M1?, D2E, D2H, D2N, P3L, P3S, P3A, Q4*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.