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Mutation Report for: S203P_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|S203P
Torpedo number|205
Comment|p.S203P Ser203Pro c.607T>C (p.S231P Ser231Pro in primary sequence with 28 amino-acids signal peptide) Found in a compound heterozygote with the G365R(G393R) mutation
Kinetic parameters|none

    Title: Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
    Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y, Iuchi I
    Ref: Clinica Chimica Acta, 303:61, 2001 : 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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