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Mutation Report for: R3Q_human-ACHE

Mode of mutation|Natural mutant
Amino Acid change|R3Q
Torpedo number|1
Comment|p.R3Q Arg3Gln (p.R34Q Arg34Gln in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave Q3 allele frequency of 5.2% in Afro-Americans not present in Ashkenazi Jews not present in Sepharadic Jews and not present in Israeli Arabs (Hasin et al 2004) R34Q Arg34Gln with signal peptide rs17881553
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


    Title: A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene
    Hasin Y, Avidan N, Bercovich D, Korczyn A, Silman I, Beckmann JS, Sussman JL
    Ref: Hum Mutat, 24:408, 2004 : 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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