APOA5 (Apolipoprotein A-V) variants and mutations

APOA5 (also known as Apolipoprotein A-V) is a human protein-coding gene encoding an apolipoprotein A-V protein. It strongly modulates plasma triglyceride levels by promoting efficient clearance of triglyceride-rich lipoproteins. Rare loss-of-function variants can cause severe hypertriglyceridemia and increase susceptibility to familial chylomicronemia-like phenotypes and pancreatitis. This analysis covers 999 APOA5 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes hyperlipoproteinemia type V, Hyperlipoproteinemia type 4, and hypertriglyceridemia. Example APOA5 variants include S3I, S3N, and M4V.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable APOA5 variants

Examples include S3I, S3N, M4V, A5S, A5V, A6V, A6G, V7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.