Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
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 : p.S278C (Ser278Cys) TCT->TGT (Ser251Cys S251C in the mature protein which do not count signal peptide)
| Title : Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency - Bijvoet_1996_J.Lipid.Res_37_640 |
| Author(s) : Bijvoet S , Gagne SE , Moorjani S , Gagne C , Henderson HE , Fruchart JC , Dallongeville J , Alaupovic P , Prins M , Kastelein JJ , Hayden MR |
| Ref : J Lipid Res , 37 :640 , 1996 |
| Abstract : Bijvoet_1996_J.Lipid.Res_37_640 |
| ESTHER : Bijvoet_1996_J.Lipid.Res_37_640 |
| PubMedSearch : Bijvoet_1996_J.Lipid.Res_37_640 |
| PubMedID: 8728325 |
| Title : Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->\;Asn\; Ser251-->\;Cys) resulting in lipoprotein lipase (LPL) deficiency - Bijvoet_1996_Neth.J.Med_49_189 |
| Author(s) : Bijvoet SM , Wiebusch H , Ma Y , Reymer PW , Bruin T , Bakker HD , Funke H , Assmann G , Hayden MR , Kastelein JJ |
| Ref : Neth J Med , 49 :189 , 1996 |
| Abstract : Bijvoet_1996_Neth.J.Med_49_189 |
| ESTHER : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedID: 8973094 |