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.A98T Ala98Thr (Ala71Thr A71T in the mature protein) rs145657341
| Title : Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis - Wu_2023_Kidney.Int.Rep_8_2428 |
| Author(s) : Wu H , Xu H , Lei S , Yang Z , Yang S , Du J , Zhou Y , Liu Y , Yang Y , Hu Z |
| Ref : Kidney Int Rep , 8 :2428 , 2023 |
| Abstract : |
| PubMedSearch : Wu_2023_Kidney.Int.Rep_8_2428 |
| PubMedID: 38025240 |
| Gene_locus related to this paper: human-LPL |
| Title : Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach - Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| Author(s) : Khovidhunkit W , Charoen S , Kiateprungvej A , Chartyingcharoen P , Muanpetch S , Plengpanich W |
| Ref : J Clin Lipidol , 10 :505 , 2016 |
| Abstract : |
| PubMedSearch : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| PubMedID: 27206937 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis - Xie_2015_PLoS.One_10_e0129488 |
| Author(s) : Xie SL , Chen TZ , Huang XL , Chen C , Jin R , Huang ZM , Zhou MT |
| Ref : PLoS ONE , 10 :e0129488 , 2015 |
| Abstract : |
| PubMedSearch : Xie_2015_PLoS.One_10_e0129488 |
| PubMedID: 26079787 |
| Title : A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis - Chen_2014_Lipids.Health.Dis_13_52 |
| Author(s) : Chen TZ , Xie SL , Jin R , Huang ZM |
| Ref : Lipids Health Dis , 13 :52 , 2014 |
| Abstract : |
| PubMedSearch : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedID: 24646025 |
| Gene_locus related to this paper: human-LPL |
| Title : Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees - Hu_2007_J.Lipid.Res_48_1681 |
| Author(s) : Hu Y , Ren Y , Luo RZ , Mao X , Li X , Cao X , Guan L , Chen X , Li J , Long Y , Zhang X , Tian H |
| Ref : J Lipid Res , 48 :1681 , 2007 |
| Abstract : |
| PubMedSearch : Hu_2007_J.Lipid.Res_48_1681 |
| PubMedID: 17476032 |
| Gene_locus related to this paper: human-LPL |
| Title : [Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes] - Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| Author(s) : Yang T , Lam CW , Tsang MW , Chan LY , Poon PM , Huang SZ , Pang CP |
| Ref : Zhongguo Yi Xue Ke Xue Yuan Xue Bao , 25 :134 , 2003 |
| Abstract : |
| PubMedSearch : Yang_2003_Zhongguo.Yi.Xue.Ke.Xue.Yuan.Xue.Bao_25_134 |
| PubMedID: 12905705 |
| Title : Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia - Chan_2002_Hum.Mutat_20_232 |
| Author(s) : Chan LY , Lam CW , Mak YT , Tomlinson B , Tsang MW , Baum L , Masarei JR , Pang CP |
| Ref : Hum Mutat , 20 :232 , 2002 |
| Abstract : |
| PubMedSearch : Chan_2002_Hum.Mutat_20_232 |
| PubMedID: 12204001 |
| Gene_locus related to this paper: human-LPL |