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.Ser199Cys S199C (Ser172Cys S172C in the mature protein without signal peptide) rs118204072 results in only moderate hypertriglyceridaemia in the absence of environmental factors
| Title : Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene - Ma_1993_J.Clin.Invest_91_1953 |
| Author(s) : Ma Y , Liu MS , Ginzinger D , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Clinical Investigation , 91 :1953 , 1993 |
| Abstract : Ma_1993_J.Clin.Invest_91_1953 |
| ESTHER : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedSearch : Ma_1993_J.Clin.Invest_91_1953 |
| PubMedID: 8486765 |
| Gene_locus related to this paper: human-LPL |
| Title : Phenotypic variation of mutations in the human lipoprotein-lipase gene - Hayden_1993_Biochem.Soc.Trans_21_506 |
| Author(s) : Hayden MR , Kastelein JJ , Funke H , Brunzell JD , Ma Y |
| Ref : Biochemical Society Transactions , 21 :506 , 1993 |
| Abstract : Hayden_1993_Biochem.Soc.Trans_21_506 |
| ESTHER : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedSearch : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedID: 8359520 |