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.3G>C, p. M1I translation initiator codon (ATG-->ATC) no protein produced found as a compound heterozygote for E269K mutation Yu 2006 et al. and compound heterozygote with L279VfsX3 mutation by Wang et al.
| Title : Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency - Xia_2023_J.Clin.Lipidol__ |
| Author(s) : Xia Y , Zheng W , Du T , Gong Z , Liang L , Wang R , Yang Y , Zhang K , Lu D , Chen X , Sun Y , Xiao B , Qiu W |
| Ref : J Clin Lipidol , : , 2023 |
| Abstract : Xia_2023_J.Clin.Lipidol__ |
| ESTHER : Xia_2023_J.Clin.Lipidol__ |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia - Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| Author(s) : Wang S , Cheng Y , Shi Y , Zhao W , Gao L , Fang L , Jin X , Han X , Sun Q , Li G , Zhao J , Xu C |
| Ref : Front Endocrinol (Lausanne) , 13 :874608 , 2022 |
| Abstract : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| ESTHER : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedSearch : Wang_2022_Front.Endocrinol.(Lausanne)_13_874608 |
| PubMedID: 35923617 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis - Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| Author(s) : Yu XH , Zhao TQ , Wang L , Liu ZP , Zhang CM , Chen R , Li L , Liu G , Hu WC |
| Ref : Biochemical & Biophysical Research Communications , 341 :82 , 2006 |
| Abstract : Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| ESTHER : Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| PubMedSearch : Yu_2006_Biochem.Biophys.Res.Commun_341_82 |
| PubMedID: 16431216 |
| Gene_locus related to this paper: human-LPL |