rs879254382
This is a variant in the LDLR gene that changes a methionine to an leucine.
▶ClinVar annotation
Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemiaAssociationN=100Nauck MS et al.(2001)· Human Mutation
A study of 100 unrelated German individuals with elevated LDL cholesterol identified 37 different mutations in the LDLR gene, of which 16 were novel mutations. The mutations included 23 missense, 4 nonsense, and 3 splice site variants, as well as frameshift mutations. Additionally, 7 patients were heterozygous for the R3500Q mutation in the APOB gene, the most frequent FDB variant in this population. The findings demonstrate a broad spectrum of LDLR mutations in Southwest Germany causing familial hypercholesterolemia.
About LDLR
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]
View all LDLR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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