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Mutation Report for: R549H_human-BCHE

R549H_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|R549H
Torpedo number|551
Summary|
Comment|p.R549H Arg549His c.1730 CGC->CAC (R577H Arg577His 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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