Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
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.Ser72Gly S72G (Ser45Gly, S45G in the mature protein which do not count signal peptide)
| 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 : |
| PubMedSearch : Xia_2023_J.Clin.Lipidol__ |
| PubMedID: 37858495 |
| Gene_locus related to this paper: human-LPL |
| Title : In vitro expression and site-specific mutagenesis of the cloned human lipoprotein lipase gene. Potential N-linked glycosylation site asparagine 43 is important for both enzyme activity and secretion - Semenkovich_1990_J.Biol.Chem_265_5429 |
| Author(s) : Semenkovich CF , Luo CC , Nakanishi MK , Chen SH , Smith LC , Chan L |
| Ref : Journal of Biological Chemistry , 265 :5429 , 1990 |
| Abstract : |
| PubMedSearch : Semenkovich_1990_J.Biol.Chem_265_5429 |
| PubMedID: 2318821 |
| Gene_locus related to this paper: human-LPL |