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Mutation Report for: I4del_human-BCHE

I4del_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|I4del
Torpedo number|5
Summary|
Comment|p.I4del Ile4del (CAT codon 4 deleted) GAAGATGACATCATAATT to GAAGATGACATAATT (p.I32del Ile32del in primary sequence with 28 amino-acids signal peptide) Silent variant
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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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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