APOA1 (Apolipoprotein A-I) variants and mutations

APOA1 (also known as Apolipoprotein A-I) is a human protein-coding gene encoding an apolipoprotein A-I protein. It is the principal protein scaffold of HDL and activates LCAT, supporting cholesterol efflux from peripheral tissues and reverse cholesterol transport. Pathogenic variants can cause very low HDL cholesterol, familial amyloidosis in some alleles, or altered cardiovascular risk. This analysis covers 729 APOA1 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes hypoalphalipoproteinemia, primary, 2, familial visceral amyloidosis, and Familial renal amyloidosis. Example APOA1 variants include K2N, K2Q, and A4E.

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 APOA1 variants

Examples include K2N, K2Q, A4E, A4V, V5E, T7I, A9T, V10M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.