ABCA1 (O95477) variants and mutations

ABCA1 (also known as O95477) is a human protein-coding gene encoding a phospholipid-transporting ATPase protein. It transfers cellular cholesterol and phospholipids to lipid-poor apolipoproteins, especially ApoA-I, initiating HDL formation and reverse cholesterol transport. Severe loss of function causes Tangier disease, while partial impairment can markedly lower HDL cholesterol. This analysis covers 2,727 ABCA1 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes Tangier disease, hypoalphalipoproteinemia, primary, 1, and Decreased HDL cholesterol concentration. Example ABCA1 variants include A2T, A2V, and C3F.

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 ABCA1 variants

Examples include A2T, A2V, C3F, C3S, C3Y, W4C, P5H, Q6*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.