S278C (p.Ser278Cys) variant of LPL (Lipoprotein lipase)
S278C (p.Ser278Cys) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperlipoproteinemia, type I. The record also includes published literature.
S278C (p.Ser278Cys) variant details
- p.Ser278Cys
- UniProt VAR 004236
- Likely pathogenic
- Hyperlipoproteinemia, type I
- Missense
- ClinVar: Likely pathogenic (Hyperlipoproteinemia, type I)
- EBI: Pathogenic (in HLPP1)
- UniProt: Pathogenic (in HLPP1)
- Cited in: Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys)… (PMID 8973094)
- Cited in: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a… (PMID 10660334)