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Mutation Report for: S208T_human-LCAT

S208T_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.694T>A, S232T with numbering including signal peptide
    Kinetic parameters|none


    References:
      Title: Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
      Talmud PJ, Hawe E, Robertson K, Miller GJ, Miller NE, Humphries SE
      Ref: Ann Hum Genet, 66:111, 2002 : PubMed

              

      Title: A common lecithin: cholesterol acyltransferase gene variant (Ser208-->Thr)
      Stocks J, Cooke CJ, Miller NE
      Ref: Atherosclerosis, 149:219, 2000 : PubMed

              




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