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Mutation Report for: D134H/R136Q_human-ACHE

Mode of mutation|Site directed mutagenesis
Amino Acid change|D134H/R136Q
Torpedo number|131//133//131,133
Comment|p.D134H/R136Q Asp134His/Arg136Gln (p.D165H/R167Q Asp165His/Arg167Gln in primary sequence with 31 amino-acids signal peptide) R136Q was introduced to revert effect of natural snp D134H (Valle et al. 2011)
Kinetic parameters|none

    Title: Naturally occurring variations in the human cholinesterase genes: heritability and association with cardiovascular and metabolic traits
    Valle AM, Radic Z, Rana BK, Mahboubi V, Wessel J, Shih PA, Rao F, O'Connor DT, Taylor P
    Ref: Journal of Pharmacology & Experimental Therapeutics, 338:125, 2011 : 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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