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.C243S (Cys243Ser) (Cys216Ser C216S in the mature protein which do not count signal peptide) rs528243561
| Title : Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic - Bardey_2024_J.Lipid.Res__100589 |
| Author(s) : Bardey F , Rieck L , Spira D , Marz W , Binner P , Schwab S , Kleber ME , Danyel M , Barkowski R , Bobbert T , Spranger J , Steinhagen-Thiessen E , Demuth I , Kassner U |
| Ref : J Lipid Res , :100589 , 2024 |
| Abstract : |
| PubMedSearch : Bardey_2024_J.Lipid.Res__100589 |
| PubMedID: 38969064 |
| Gene_locus related to this paper: human-LPL |
| 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 : |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |