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.Cys266Ter TGC972-->TGA, LPLobama (C239X Cys239Ter in the mature protein which do not count signal peptide) exon 6
| Title : A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop\/TGC972-->TGA\; LPLobama) in a patient with primary type IV hyperlipoproteinemia - Takagi_1994_J.Lipid.Res_35_2008 |
| Author(s) : Takagi A , Ikeda Y , Mori A , Tsutsumi Z , Oida K , Nakai T , Yamamoto A |
| Ref : J Lipid Res , 35 :2008 , 1994 |
| Abstract : Takagi_1994_J.Lipid.Res_35_2008 |
| ESTHER : Takagi_1994_J.Lipid.Res_35_2008 |
| PubMedSearch : Takagi_1994_J.Lipid.Res_35_2008 |
| PubMedID: 7868979 |
| Gene_locus related to this paper: human-LPL |