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Mutation Report for: R465X_human-BCHE

R465X_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|R465stop
Torpedo number|467
Summary|
Comment|p.R465X Arg465Ter (p.R465X Arg465Ter in primary sequence with 28 amino-acids signal peptide) Silent variant; Natural mutation 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

            

    Title: Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes
    Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K
    Ref: Clinica Chimica Acta, 235:41, 1995 : PubMed

            




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