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.W417C Trp417Cys c.1251G>C in patients with severe hypertriglyceridemia (HTG)
| Title : Reduced activity of two LPL C-terminal variants, p.Glu396Val and novel p.Trp417Cys: a clinical, biochemical and structural study - Tang_2026_Front.Physiol_17_1820368 |
| Author(s) : Tang J , Huang Q , Xie Y , Qiu X , Wang H , Xue M , Dai Z |
| Ref : Front Physiol , 17 :1820368 , 2026 |
| Abstract : |
| PubMedSearch : Tang_2026_Front.Physiol_17_1820368 |
| PubMedID: 42359252 |
| Gene_locus related to this paper: human-LPL |