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.His210Asp H210D CAC->GAC exon 5 (His183Asp H183D in the mature protein which do not count signal peptide)
| Title : Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23 - Holzl_2000_J.Lipid.Res_41_734 |
| Author(s) : Holzl B , Kraft HG , Wiebusch H , Sandhofer A , Patsch J , Sandhofer F , Paulweber B |
| Ref : J Lipid Res , 41 :734 , 2000 |
| Abstract : |
| PubMedSearch : Holzl_2000_J.Lipid.Res_41_734 |
| PubMedID: 10787434 |