LDLR (Low-density lipoprotein receptor) variants and mutations

LDLR (also known as Low-density lipoprotein receptor) is a human protein-coding gene encoding a low-density lipoprotein receptor protein. It removes ApoB-containing LDL particles from the circulation through receptor-mediated endocytosis, especially in hepatocytes. Loss-of-function variants are the most common cause of familial hypercholesterolemia and lead to lifelong LDL elevation and premature atherosclerotic disease. This analysis covers 2,294 LDLR variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes hypercholesterolemia, familial, 1, Hypercholesterolemia, and familial hypercholesterolemia. Example LDLR variants include M1I, M1L, and M1T.

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, ClinGen, MaveDB, LitVar.

Notable LDLR variants

Examples include M1I, M1L, M1T, M1V, G2E, G2R, G2G, G2W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.