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 :
c.331G > C (p.Val111Leu)(V84L Val84Leu in the mature protein which do not count signal peptide) found in a compound heterozygote with R270H_human-LPL
| Title : Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants - Hu_2024_Lipids.Health.Dis_23_92 |
| Author(s) : Hu Y , Chen JM , Zuo H , Pu N , Zhang G , Duan Y , Li G , Tong Z , Li W , Li B , Yang Q |
| Ref : Lipids Health Dis , 23 :92 , 2024 |
| Abstract : Hu_2024_Lipids.Health.Dis_23_92 |
| ESTHER : Hu_2024_Lipids.Health.Dis_23_92 |
| PubMedSearch : Hu_2024_Lipids.Health.Dis_23_92 |
| PubMedID: 38561841 |
| Gene_locus related to this paper: human-LPL |