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.His163Arg H163R (His136Arg H136R in the mature protein which do not count signal peptide)
| Title : Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes - Reina_1992_J.Lipid.Res_33_1823 |
| Author(s) : Reina M , Brunzell JD , Deeb SS |
| Ref : J Lipid Res , 33 :1823 , 1992 |
| Abstract : Reina_1992_J.Lipid.Res_33_1823 |
| ESTHER : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedSearch : Reina_1992_J.Lipid.Res_33_1823 |
| PubMedID: 1479292 |
| Gene_locus related to this paper: human-LPL |