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.D183G Asp183Gly c.722A>G p.(D156G Asp156Gly in the mature protein which do not count signal peptide) lacks both triolein and tributyrin esterase activities rs118204064
| Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
| Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
| Abstract : Ma_1992_J.Biol.Chem_267_1918 |
| ESTHER : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |
| Title : Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241 - Emmerich_1992_J.Biol.Chem_267_4161 |
| Author(s) : Emmerich J , Beg OU , Peterson J , Previato L , Brunzell JD , Brewer HB, Jr. , Santamarina-Fojo S |
| Ref : Journal of Biological Chemistry , 267 :4161 , 1992 |
| Abstract : Emmerich_1992_J.Biol.Chem_267_4161 |
| ESTHER : Emmerich_1992_J.Biol.Chem_267_4161 |
| PubMedSearch : Emmerich_1992_J.Biol.Chem_267_4161 |
| PubMedID: 1371284 |
| Gene_locus related to this paper: human-LPL |
| Title : Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family - Faustinella_1991_J.Biol.Chem_266_14418 |
| Author(s) : Faustinella F , Chang A , Van Biervliet JP , Rosseneu M , Vinaimont N , Smith LC , Chen SH , Chan L |
| Ref : Journal of Biological Chemistry , 266 :14418 , 1991 |
| Abstract : Faustinella_1991_J.Biol.Chem_266_14418 |
| ESTHER : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedSearch : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedID: 1907278 |
| Gene_locus related to this paper: human-LPL |