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Mutation Report for: G333C_human-BCHE

G333C_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|G333C
Torpedo number|335
Summary|
Comment|p.G333C Gly333Cys c.997G>T (p.V322M Val322Met in primary sequence with 28 amino-acids signal peptide) G333C leads to a decrease of about 80% in relation to the wild-type enzyme, low kcat
Kinetic parameters|none


References:
    Title: Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population
    Mikami LR, Wieseler S, Souza RL, Schopfer LM, Nachon F, Lockridge O, Chautard-Freire-Maia EA
    Ref: Pharmacogenet Genomics, 18:213, 2008 : 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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