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Mutation Report for: P69L_human-LCAT

P69L_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.P69L p.Pro69Leu c.278 C>T P92L Pro92Leu with numbering including signal peptide
    Kinetic parameters|none


    References:
      Title: Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations
      Katayama A, Wada J, Kataoka HU, Yamasaki H, Teshigawara S, Terami T, Inoue K, Kanzaki M, Murakami K and Makino H <4 more author(s)>
      Ref: NDT Plus, 4:299, 2011 : PubMed

              




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