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.P184R Pro184Arg c.G725C, (P157R Pro157Arg in mature protein without signal peptide as mentionned in the paper Nijmegen). This substitution alters a restriction site for PvuII
| Title : The HindIII and PvuII polymorphisms of lipoprotein lipase (LPL) gene reduce the risk of ischemic stroke (IS): A meta-analysis - Cao_2018_Medicine.(Baltimore)_97_e0483 |
| Author(s) : Cao L , Li Q , Chen X |
| Ref : Medicine (Baltimore) , 97 :e0483 , 2018 |
| Abstract : Cao_2018_Medicine.(Baltimore)_97_e0483 |
| ESTHER : Cao_2018_Medicine.(Baltimore)_97_e0483 |
| PubMedSearch : Cao_2018_Medicine.(Baltimore)_97_e0483 |
| PubMedID: 29718838 |
| Gene_locus related to this paper: human-LPL |
| Title : Associations of three lipoprotein lipase gene polymorphisms, lipid profiles and coronary artery disease - Daoud_2013_Biomed.Rep_1_573 |
| Author(s) : Daoud MS , Ataya FS , Fouad D , Alhazzani A , Shehata AI , Al-Jafari AA |
| Ref : Biomed Rep , 1 :573 , 2013 |
| Abstract : Daoud_2013_Biomed.Rep_1_573 |
| ESTHER : Daoud_2013_Biomed.Rep_1_573 |
| PubMedSearch : Daoud_2013_Biomed.Rep_1_573 |
| PubMedID: 24648989 |
| Title : A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity - Bruin_1992_Eur.J.Biochem_208_267 |
| Author(s) : Bruin T , Kastelein JJ , Van Diermen DE , Ma Y , Henderson HE , Stuyt PM , Stalenhoef AF , Sturk A , Brunzell JD , Hayden MR |
| Ref : European Journal of Biochemistry , 208 :267 , 1992 |
| Abstract : Bruin_1992_Eur.J.Biochem_208_267 |
| ESTHER : Bruin_1992_Eur.J.Biochem_208_267 |
| PubMedSearch : Bruin_1992_Eur.J.Biochem_208_267 |
| PubMedID: 1521525 |
| Gene_locus related to this paper: human-LPL |