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Mutation Report for: V279F_human-PLA2G7

Gene_Locushuman-PLA2G7 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.V279F Val279Phe c.G994T in PAFAD; loss of function; risk factor for coronary arthery disease and stroke. rs76863441
    References
      Title: Association Lp-PLA2 Gene Polymorphisms with Coronary Heart Disease
      Ma S, Ding L, Cai M, Chen L, Yan B, Yang J
      Ref: Dis Markers, 2022:9775699, 2022 : PubMed

              

      Title: Structural Modeling of Wild and Mutant Forms of Human Plasma Platelet Activating Factor-Acetyl Hydrolase Enzyme
      Khan MI, Hariprasad G
      Ref: J Inflamm Res, 13:1125, 2020 : PubMed

              

      Title: Effects of overweight and the PLA2G7 V279F polymorphism on the association of age with systolic blood pressure
      Kim M, Yoo HJ, Jang HY, Lee SH, Lee JH
      Ref: PLoS ONE, 12:e0173611, 2017 : PubMed

              

      Title: Correlations Between LP-PLA2 Gene Polymorphisms and Susceptibility and Severity of Acute Pancreatitis in a Chinese Population
      Ma M, Zhai CX, Sun CX
      Ref: Genet Test Mol Biomarkers, 21:206, 2017 : PubMed

              

      Title: Association of Lp-PLA2 G994T gene polymorphism with risk of ischemic stroke in Chinese population
      Ni J, Gu H, Hu W, Zhou F, Zhu X, Wang K
      Ref: J Biochem Mol Toxicol, 31:, 2017 : PubMed

              

      Title: Associations between four types of single-nucleotide polymorphisms in PLA2G7 gene and clinical atherosclerosis: a meta-analysis
      Santoso A, Maulana R, Alzahra F, Maghfirah I, Putrinarita AD, Heriansyah T
      Ref: Am J Cardiovasc Dis, 7:122, 2017 : PubMed

              

      Title: Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib
      Yeo A, Li L, Warren L, Aponte J, Fraser D, King K, Johansson K, Barnes A, Macphee C and Waterworth D <6 more author(s)>
      Ref: PLoS ONE, 12:e0182115, 2017 : PubMed

              

      Title: Val279Phe variant of Lp-PLA2 is a risk factor for a subpopulation of Indonesia patients with acute myocardial infarction
      Cahyaningtias M, Rohman MS, Widodo, Wahjono Adi A, Yuda R, Indrayana Y, Putri JF, Rusdianto, Lukitasari M, Hendrawan D
      Ref: Genes Dis, 3:289, 2016 : PubMed

              

      Title: A phenome-wide association study of a lipoprotein-associated phospholipase A2 loss-of-function variant in 90 000 Chinese adults
      Millwood IY, Bennett DA, Walters RG, Clarke R, Waterworth D, Johnson T, Chen Y, Yang L, Guo Y and Chen Z <10 more author(s)>
      Ref: Int J Epidemiol, 45:1588, 2016 : PubMed

              

      Title: Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coronary heart disease in a southern Chinese population
      Hong M, Zhang M, Lu X
      Ref: Mamm Genome, 26:191, 2015 : PubMed

              

      Title: Naturally Occurring Missense Mutation in Plasma PAF-AH Among the Japanese Population
      Karasawa K
      Ref: Enzymes, 38:117, 2015 : PubMed

              

      Title: Carriage of the V279F null allele within the gene encoding Lp-PLA(2) is protective from coronary artery disease in South Korean males
      Jang Y, Waterworth D, Lee JE, Song K, Kim S, Kim HS, Park KW, Cho HJ, Oh IY and Mooser V <12 more author(s)>
      Ref: PLoS ONE, 6:e18208, 2011 : PubMed

              

      Title: Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-analysis
      Zheng GH, Chen HY, Xiong SQ, Chu JF
      Ref: Mol Biol Rep, 38:4089, 2011 : PubMed

              

      Title: Identification of the G994T polymorphism in exon 9 of plasma platelet-activating factor acetylhydrolase gene as a risk factor for polycystic ovary syndrome
      Fan P, Liu Hw, Wang XS, Zhang F, Song Q, Li Q, Wu HM, Bai H
      Ref: Hum Reprod, 25:1288, 2010 : PubMed

              

      Title: PLA2G7 gene polymorphisms and coronary heart disease risk: a meta-analysis
      Wang Q, Hao Y, Mo X, Wang L, Lu X, Huang J, Cao J, Li H, Gu D
      Ref: Thromb Res, 126:498, 2010 : PubMed

              

      Title: Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: the Beijing atherosclerosis study
      Hou L, Chen S, Yu H, Lu X, Chen J, Wang L, Huang J, Fan Z, Gu D
      Ref: Hum Genet, 125:11, 2009 : PubMed

              

      Title: Effects of G994T in the Lp-PLA2 gene on the plasma oxidized LDL level and carotid intima-media thickness in Japanese: the Shimane study
      Wang T, Karino K, Yamasaki M, Zhang Y, Masuda J, Yamaguchi S, Shiwaku K, Nabika T
      Ref: Am J Hypertens, 22:742, 2009 : PubMed

              

      Title: Comprehensive evaluation of genetic and environmental factors influencing the plasma lipoprotein-associated phospholipase A2 activity in a Japanese population
      Zhang SY, Shibata H, Karino K, Wang BY, Kobayashi S, Masuda J, Nabika T
      Ref: Hypertens Res, 30:403, 2007 : PubMed

              

      Title: The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men
      Jang Y, Kim OY, Koh SJ, Chae JS, Ko YG, Kim JY, Cho H, Jeong TS, Lee WS and Lee JH <1 more author(s)>
      Ref: J Clinical Endocrinology Metab, 91:3521, 2006 : PubMed

              

      Title: Platelet-activating factor-acetylhydrolase A379V (exon 11) gene polymorphism is an independent and functional risk factor for premature myocardial infarction
      Liu PY, Li YH, Wu HL, Chao TH, Tsai LM, Lin LJ, Shi GY, Chen JH
      Ref: J Thromb Haemost, 4:1023, 2006 : PubMed

              

      Title: Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients
      Sekuri C, Cam FS, Tengiz I, Ercan E, Bayturan O, Berdeli A
      Ref: Anadolu Kardiyol Derg, 6:132, 2006 : PubMed

              

      Title: Vasospastic angina and microvascular angina are differentially influenced by PON1 A632G polymorphism in the Japanese
      Mashiba J, Koike G, Kamiunten H, Ikeda M, Sunagawa K
      Ref: Circ J, 69:1466, 2005 : PubMed

              

      Title: Association of plasma PAF acetylhydrolase gene polymorphism with IMT of carotid arteries in Japanese type 2 diabetic patients
      Yamamoto I, Fujitsu J, Nohnen S, Igarashi T, Motomura T, Inaba M, Tsubakimori S, Azuma J
      Ref: Diabetes Res Clin Pract, 59:219, 2003 : PubMed

              

      Title: Evidence for the existence of the PAF acetylhydrolase mutation (Val279Phe) in non-Japanese populations: a preliminary study in Turkey, Azerbaijan, and Kyrgyzstan
      Balta G, Gurgey A, Kudayarov DK, Tunc B, Altay C
      Ref: Thromb Res, 101:231, 2001 : PubMed

              

      Title: Platelet-activating factor acetylhydrolase gene mutation in Japanese children with Escherichia coli O157-associated hemolytic uremic syndrome
      Xu H, Iijima K, Shirakawa T, Shiozawa S, Miwa M, Yamaoka K, Kawamura N, Nakamura H, Yoshikawa N
      Ref: Am J Kidney Dis, 36:42, 2000 : PubMed

              

      Title: Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma
      Stafforini DM, Numao T, Tsodikov A, Vaitkus D, Fukuda T, Watanabe N, Fueki N, McIntyre TM, Zimmerman GA and Prescott SM <1 more author(s)>
      Ref: J Clinical Investigation, 103:989, 1999 : PubMed

              

      Title: Role of platelet-activating factor acetylhydrolase gene mutation in Japanese childhood IgA nephropathy
      Tanaka R, Iijima K, Xu H, Inoue Y, Murakami R, Shirakawa T, Nishiyama K, Miwa M, Shiozawa S and Yoshikawa N <1 more author(s)>
      Ref: Am J Kidney Dis, 34:289, 1999 : PubMed

              

      Title: Platelet-activating factor acetylhydrolase gene mutation in Japanese nephrotic children
      Xu H, Iijima K, Shiozawa S, Tanaka SS, Inoue Y, Shirakawa T, Nishiyama K, Miwa M, Nakamura H, Yoshikawa N
      Ref: Kidney Int, 54:1867, 1998 : PubMed

              

      Title: Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men
      Yamada Y, Ichihara S, Fujimura T, Yokota M
      Ref: Metabolism, 47:177, 1998 : PubMed

              

      Title: A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension
      Yoshida H, Imaizumi T, Fujimoto K, Itaya H, Hiramoto M, Yoshimizu N, Fukushi K, Satoh K
      Ref: Thromb Haemost, 80:372, 1998 : PubMed

              

      Title: A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke
      Hiramoto M, Yoshida H, Imaizumi T, Yoshimizu N, Satoh K
      Ref: Stroke, 28:2417, 1997 : PubMed

              

      Title: Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase
      Stafforini DM, Satoh K, Atkinson DL, Tjoelker LW, Eberhardt C, Yoshida H, Imaizumi T, Takamatsu S, Zimmerman GA and Prescott SM <2 more author(s)>
      Ref: J Clinical Investigation, 97:2784, 1996 : PubMed

              


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