IAPP (Islet amyloid polypeptide) variants and mutations

IAPP (also known as Islet amyloid polypeptide) is a human protein-coding gene encoding an islet amyloid polypeptide protein. It is cosecreted with insulin from pancreatic beta cells and helps regulate satiety, gastric emptying, and postprandial glucose handling. In type 2 diabetes, misfolded amylin can form amyloid deposits within pancreatic islets and contribute to beta-cell stress. This analysis covers 292 IAPP variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes AL amyloidosis, Alzheimer disease, and diabetes mellitus. Example IAPP variants include M1?, G2C, and G2D.

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 IAPP variants

Examples include M1?, G2C, G2D, G2S, I3F, I3T, I3I, L4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.