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Mutation Report for: V95M_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.V95M Val95Met c.283 G>A (p.V73M Val73Met in the mature protein without the 22 amino-acids of signal peptide) rs6078
    References
      Title: Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia
      Plengpanich W, Siriwong S, Khovidhunkit W
      Ref: Metabolism, 58:1178, 2009 : PubMed

              

      Title: Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension
      Kokubo Y, Tomoike H, Tanaka C, Banno M, Okuda T, Inamoto N, Kamide K, Kawano Y, Miyata T
      Ref: Hypertens Res, 29:611, 2006 : PubMed

              

      Title: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors
      Morabia A, Cayanis E, Costanza MC, Ross BM, Flaherty MS, Alvin GB, Das K, Gilliam TC
      Ref: Hum Mol Genet, 12:2733, 2003 : PubMed

              

      Title: The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia
      Hoffer MJ, Snieder H, Bredie SJ, Demacker PN, Kastelein JJ, Frants RR, Stalenhoef AF
      Ref: Atherosclerosis, 151:443, 2000 : PubMed

              

      Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes
      Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP and Lander ES <8 more author(s)>
      Ref: Nat Genet, 22:231, 1999 : PubMed

              


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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