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 : JANUARY-29-2020
Comment : p.His210Leu H210L (c.629A > T) exon 5 (His183Leu H183L in the mature protein which do not count signal peptide) heterozygous LPL missense variant ina Han Chinese patient who had experienced two episodes of hypertriglyceridemia-induced Acute pancreatitis in pregnancy (HTG-APIP). This variant did not affect protein synthesis but significantly impaired LPL secretion and completely abolished the enzymatic activity of the mutant protein
| Title : Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy - Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| Author(s) : Shi XL , Yang Q , Pu N , Li XY , Chen WW , Zhou J , Li G , Tong ZH , Ferec C , Cooper DN , Chen JM , Li WQ |
| Ref : Mol Genet Genomic Med , :e1048 , 2020 |
| Abstract : Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| ESTHER : Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| PubMedSearch : Shi_2020_Mol.Genet.Genomic.Med__e1048 |
| PubMedID: 31962008 |
| Gene_locus related to this paper: human-LPL |