Gene Locus : human-LIPG
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.526 G>T, p.Gly176Trp G176W Three family members had elevated plasma HDL-C, apoA-I and total phospholipids, as well as a reduced content of preBeta-HDL. These subjects were heterozygous carriers
Title : Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase - Pisciotta_2022_J.Clin.Lipidol_S1933-2874_00235 |
Author(s) : Pisciotta L , Ossoli A , Ronca A , Garuti A , Fresa R , Favari E , Calabresi L , Calandra S , Bertolini S |
Ref : J Clin Lipidol , : , 2022 |
Abstract : |
PubMedSearch : Pisciotta_2022_J.Clin.Lipidol_S1933-2874_00235 |
PubMedID: 36002365 |
Gene_locus related to this paper: human-LIPG |