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Mutation Report for: G26R_human-ACHE

Mode of mutation|Natural mutant
Amino Acid change|G26R
Torpedo number|24
Comment|p.G26R Gly26Arg (p.G57R Gly57Arg in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave Q3 allele frequency of 1% in Afro-Americans 2.1% in Ashkenazi Jews not present in Sepharadic Jews and 2.1% in Israeli Arabs (Hasin et al 2004) rs17234982
Kinetic parameters|none

    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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