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Mutation Report for: V173M_human-LIPC

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.V173S Val173Met c.174G>A (p.G151S Gly151Ser in the mature protein without the 22 amino-acids of signal peptide) rs767952446
    Kinetic parameters|none

      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


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