LPL (Lipoprotein lipase) variants and mutations

LPL (also known as Lipoprotein lipase) is a human protein-coding gene encoding a lipoprotein lipase protein. It hydrolyzes triglycerides in circulating chylomicrons and very-low-density lipoproteins so tissues can take up released fatty acids. Severe biallelic loss causes familial chylomicronemia, while common variation strongly influences triglyceride levels and cardiovascular risk. This analysis covers 793 LPL variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes familial lipoprotein lipase deficiency, Hyperlipoproteinemia type 1, and Combined hyperlipidemia. Example LPL variants include M1I, E2D, and E2K.

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 LPL variants

Examples include M1I, E2D, E2K, E2V, E2*, E2G, E2E, S3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.