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.L279V Leu279Val (L252V Leu252Val in the mature protein like most previous publications which do not count signal peptide. Found in two patients compound heterozygote with A98T A71T in the mature protein rs371282890
| Title : Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population - Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| Author(s) : Li Y , Cai H , Lin Y , Huang Z , Zhou A , Huang T , Zeng YE , Ye M , Guo G |
| Ref : Arch Endocrinol Metab , 68 :e230195 , 2024 |
| Abstract : Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| ESTHER : Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| PubMedSearch : Li_2024_Arch.Endocrinol.Metab_68_e230195 |
| PubMedID: 38530959 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : Ariza_2020_Clin.Chim.Acta_500_163 |
| ESTHER : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis - Li_2018_Lipids.Health.Dis_17_144 |
| Author(s) : Li X , Yang Q , Shi X , Chen W , Pu N , Li W , Li J |
| Ref : Lipids Health Dis , 17 :144 , 2018 |
| Abstract : Li_2018_Lipids.Health.Dis_17_144 |
| ESTHER : Li_2018_Lipids.Health.Dis_17_144 |
| PubMedSearch : Li_2018_Lipids.Health.Dis_17_144 |
| PubMedID: 29921298 |
| 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 : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| ESTHER : Khovidhunkit_2016_J.Clin.Lipidol_10_505 |
| 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 : Xie_2015_PLoS.One_10_e0129488 |
| ESTHER : Xie_2015_PLoS.One_10_e0129488 |
| 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 : Chen_2014_Lipids.Health.Dis_13_52 |
| ESTHER : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedSearch : Chen_2014_Lipids.Health.Dis_13_52 |
| PubMedID: 24646025 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan - Jap_2003_Pancreas_27_122 |
| Author(s) : Jap TS , Jenq SF , Wu YC , Chiu CY , Cheng HM |
| Ref : Pancreas , 27 :122 , 2003 |
| Abstract : Jap_2003_Pancreas_27_122 |
| ESTHER : Jap_2003_Pancreas_27_122 |
| PubMedSearch : Jap_2003_Pancreas_27_122 |
| PubMedID: 12883259 |
| 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 : Chan_2002_Hum.Mutat_20_232 |
| ESTHER : Chan_2002_Hum.Mutat_20_232 |
| PubMedSearch : Chan_2002_Hum.Mutat_20_232 |
| PubMedID: 12204001 |
| Gene_locus related to this paper: human-LPL |