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Mutation Report for: D260EfsX39_human-CES1

Mode of mutation|Natural mutant
Amino Acid change|D260EfsX39
Torpedo number|241
Comment|P.D260EfsX39 Asp260GlufsX39 c.888delT rs778068631 activation of the antiviral prodrug oseltamivir is impaired
Kinetic parameters|none

    Title: Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation
    Zhu HJ, Wang X, Gawronski BE, Brinda BJ, Angiolillo DJ, Markowitz JS
    Ref: Journal of Pharmacology & Experimental Therapeutics, 344:665, 2013 : PubMed


    Title: Activation of the antiviral prodrug oseltamivir is impaired by two newly identified carboxylesterase 1 variants
    Zhu HJ, Markowitz JS
    Ref: Drug Metabolism & Disposition: The Biological Fate of Chemicals, 37:264, 2009 : PubMed


    Title: Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis
    Zhu HJ, Patrick KS, Yuan HJ, Wang JS, Donovan JL, DeVane CL, Malcolm R, Johnson JA, Youngblood GL and Markowitz JS <2 more author(s)>
    Ref: American Journal of Human Genetics, 82:1241, 2008 : 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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