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Mutation Report for: V294M_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|V294M
Torpedo number|296
Comment|p.V294M Val294Met c.880G>A (p.V322M Val322Met in primary sequence with 28 amino-acids signal peptide) kcat value in the normal range, heterozygote individuals showed intermediate plasma BChE activity
Kinetic parameters|none

    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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