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Mutation Report for: A269S_human-CES1

Gene_Locushuman-CES1 Amino Acid changeA269S Torpedo number249
Mode of mutationNatural mutant
Kinetic parametersnone
Commentp.Ala269Ser Nucleotide change G913T rs115629050
    Title: A Comprehensive Functional Assessment of Carboxylesterase 1 Nonsynonymous Polymorphisms
    Wang X, Rida N, Shi J, Wu AH, Bleske BE, Zhu HJ
    Ref: Drug Metabolism & Disposition: The Biological Fate of Chemicals, 45:1149, 2017 : PubMed


    Title: Population Pharmacokinetics of Methylphenidate in Healthy Adults Emphasizing Novel and Known Effects of Several Carboxylesterase 1 (CES1) Variants
    Lyauk YK, Stage C, Bergmann TK, Ferrero-Milliani L, Bjerre D, Thomsen R, Dalhoff KP, Rasmussen HB, Jurgens G
    Ref: Clin Transl Sci, 9:337, 2016 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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