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Mutation Report for: I99M_human-BCHE

I99M_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|I99M
Torpedo number|101
Summary|
Comment|p.I99M Ile99Met c.297T>G ATT->ATG (p.I127M Ile127Met in primary sequence with 28 amino-acids signal peptide)
Kinetic parameters|none


References:
    Title: Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase
    Mikami LR, Wieseler S, de Souza RLR, Schopfer LM, Lockridge O, Chautard-Freire-Maia EA
    Ref: Pharmacogenet Genomics, 17:681, 2007 : PubMed

            

    Title: Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample
    de Souza RLR, Mikami LR, Maegawa RO, Chautard-Freire-Maia EA
    Ref: Mol Genet Metab, 84:349, 2005 : PubMed

            




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