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.E282X p.Glu282Ter c844G>T (p.E255X p.Glu255Ter in the mature protein) found in a compound heterozygote patient together with R214I mutation rs533505535. The proband was also heterozygote for a missense variant of LIPC G248V
| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |