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.A288T Ala288Thr (Ala261Thr A261T in the mature protein) (Li 2022 An asymptomatic 3.5-month-old Chinese girl with only milky blood compound-heterozygous mutations c.862G>A (p.A288T) and c.461A>G (p.H154R)
| 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 : The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function - Hu_2023_Lipids.Health.Dis_22_119 |
| Author(s) : Hu Y , Zhang G , Yang Q , Pu N , Li K , Li B , Cooper DN , Tong Z , Li W , Chen JM |
| Ref : Lipids Health Dis , 22 :119 , 2023 |
| Abstract : |
| PubMedSearch : Hu_2023_Lipids.Health.Dis_22_119 |
| PubMedID: 37550668 |
| Gene_locus related to this paper: human-LPL |
| Title : Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency - Li_2022_Front.Genet_13_831133 |
| Author(s) : Li Y , Hu M , Han L , Feng L , Yang L , Chen X , Du T , Yao H |
| Ref : Front Genet , 13 :831133 , 2022 |
| Abstract : |
| PubMedSearch : Li_2022_Front.Genet_13_831133 |
| PubMedID: 35309119 |
| Gene_locus related to this paper: human-LPL |
| Title : Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects - Zhang_1998_Mol.Genet.Metab_64_177 |
| Author(s) : Zhang Q , Liu Y , Liu BW , Fan P , Cavanna J , Galton DJ |
| Ref : Mol Genet Metab , 64 :177 , 1998 |
| Abstract : |
| PubMedSearch : Zhang_1998_Mol.Genet.Metab_64_177 |
| PubMedID: 9719626 |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |