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.GLn133stop Q133stop C->T (Q106stop GLn106stop in the mature protein which do not count signal peptide)
| Title : A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia - Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| Author(s) : Ishimura-Oka K , Faustinella F , Kihara S , Smith LC , Oka K , Chan L |
| Ref : American Journal of Human Genetics , 50 :1275 , 1992 |
| Abstract : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| ESTHER : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedSearch : Ishimura-Oka_1992_Am.J.Hum.Genet_50_1275 |
| PubMedID: 1598907 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene - Emi_1990_Am.J.Hum.Genet_47_107 |
| Author(s) : Emi M , Hata A , Robertson M , Iverius PH , Hegele R , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :107 , 1990 |
| Abstract : Emi_1990_Am.J.Hum.Genet_47_107 |
| ESTHER : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedSearch : Emi_1990_Am.J.Hum.Genet_47_107 |
| PubMedID: 2349938 |
| Gene_locus related to this paper: human-LPL |