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.Q267H Gln267His (Gln240His Q240H in the mature protein which do not count signal peptide)
| Title : Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene - Soto_2015_Lipids.Health.Dis_14_102 |
| Author(s) : Soto AG , McIntyre A , Agrawal S , Bialo SR , Hegele RA , Boney CM |
| Ref : Lipids Health Dis , 14 :102 , 2015 |
| Abstract : Soto_2015_Lipids.Health.Dis_14_102 |
| ESTHER : Soto_2015_Lipids.Health.Dis_14_102 |
| PubMedSearch : Soto_2015_Lipids.Health.Dis_14_102 |
| PubMedID: 26337181 |
| Gene_locus related to this paper: human-LPL |