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Mutation Report for: P561R_human-ACHE

Mode of mutation|Natural mutant
Amino Acid change|P561R
Torpedo number|553
Comment|p.P561R Pro561Arg (p.P592R Pro592Arg in primary sequence with 31 amino-acids signal peptide) Genotyping of 48 unrelated individuals from each of four populations gave R561 allele frequency of 11.5% in Afro-Americans 39.5% in Ashkenazi Jews 33.3% in Sepharadic Jews and 33.3% in Israeli Arabs (Hasin et al 2004), Pro561Arg mature protein Pro592Arg with signal peptide (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


    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


    Title: Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism
    Bartels CF, Zelinski T, Lockridge O
    Ref: American Journal of Human Genetics, 52:928, 1993 : 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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