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Mutation Report for: I345T_human-BCHE

I345T_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|I345T
Torpedo number|347
Summary|
Comment|p.I345T Ile345Thr c.1118 ATA->ACA (I373T Ile373Thr in primary sequence with 28 amino-acids signal peptide) Prolonged neuromuscular block after administration of suxamethonium
Kinetic parameters|none


References:
    Title: Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene
    Wichmann S, Faerk G, Bundgaard JR, Gatke MR
    Ref: Pharmacogenet Genomics, 26:351, 2016 : PubMed

            




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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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