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Mutation Report for: T24M_human-BCHE

T24M_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|T24M
Torpedo number|26
Summary|
Comment|p.T24M Thr24Met (p.T52M Thr52Met in primary sequence with 28 amino-acids signal peptide) Silent phenotype
Kinetic parameters|none


References:
    Title: Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan
    Maekawa M, Sudo K, Dey DC, Ishikawa J, Izumi M, Kotani K, Kanno T
    Ref: Clinical Chemistry, 43:924, 1997 : PubMed

            




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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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