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Mutation Report for: H126CfsX2_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|H126CfsX2
Torpedo number|128
Comment|p.H126CfsX2 His126CysfsTer2 (p.H126CfsX2 His126CysfsTer2 in primary sequence with 28 amino-acids signal peptide) H126frameshift 2-bp deletion (376delCA) CAT>T results in a truncated protein 2amino acids after frameshift lacking the active site and is therefore inactive. Found as heterozygote and compound heterozygote with G115D/I3E4-14C
Kinetic parameters|none

    Title: Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia
    Gatke MR, Bundgaard JR, Viby-Mogensen J
    Ref: Pharmacogenet Genomics, 17:995, 2007 : 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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