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Mutation Report for: V204D_human-BCHE

Name Class
V204D_human-BCHEGene_locushuman-BCHE
Torpedo_number206
AA_ChangeV204D
Mode_of_mutationNatural mutant
Modification (2)
SummaryExpression;atypical silent phenotype;Delacour_2014_PLoS.One_9_e101552
PaperDelacour_2014_PLoS.One_9_e101552
NewsJULY-30-2014
Commentp.V204D Val204Asp (p.V232D Val232Asp in primary sequence with 28 amino-acids signal peptide) prolonged neuromuscular block after administration of suxamethonium
Xenobiotic_sensitivityDefect in Suxamethonium hydrolysis

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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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