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Mutation Report for: G141S_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.G141S Gly141Ser c.478G>A (c.421G>A) (p.G119S Gly119Ser in the mature protein without the 22 amino-acids of signal peptide) rs547384437 found in an heterozygote individual with hyperalphalipoproteinemia (HALP)
    References
      Title: Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia
      Plengpanich W, Tongkobpetch S, Shotelersuk V, Le Goff W, Khovidhunkit W
      Ref: Clinica Chimica Acta, 416:92, 2013 : PubMed

              

      Title: Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia
      Khovidhunkit W, Chartyingcharoen P, Siriwong S, Limumpornpetch P, Plengpanich W
      Ref: American Journal of Cardiology, 110:62, 2012 : PubMed

              

      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

              


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