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.Trp113Arg W113R (Trp86Arg W86R in the mature protein without signal peptide) found in a compound heterozygote for two mutations (W86R and Q106X) rs118204069
| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| 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 : 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 |