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Mutation Report for: A199V_human-BCHE

A199V_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|A199V
Torpedo number|201
Summary|
Comment|p.A199V Ala199Val (p.A227V Ala227Val in primary sequence with 28 amino-acids signal peptide) silent variant low activity
Kinetic parameters|none


References:
    Title: Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia
    Sakamoto N, Hidaka K, Fujisawa T, Maeda M, Iuchi I
    Ref: Clinica Chimica Acta, 274:159, 1998 : 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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