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.E396V Glu396Val c.A1187T (E369V Glu369Val in the mature protein which do not count signal peptide) in exon 8. One compound heterozygote with p.C283R Cys310Arg c.T928C
| 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 |
| Title : Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R\/E396V) in a Chinese family associated with recurrent acute pancreatitis - Lun_2017_Oncotarget_8_47741 |
| Author(s) : Lun Y , Sun X , Wang P , Chi J , Hou X , Wang Y |
| Ref : Oncotarget , 8 :47741 , 2017 |
| Abstract : |
| PubMedSearch : Lun_2017_Oncotarget_8_47741 |
| PubMedID: 28548960 |
| Gene_locus related to this paper: human-LPL |