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Mutation Report for: K12R_human-BCHE

Name Class
K12R_human-BCHEGene_locushuman-BCHE
Torpedo_number14
AA_ChangeK12R
Mode_of_mutationNatural mutant
ModificationNatural mutation
SummaryNatural mutation;;Mikami_2008_Pharmacogenet.Genomics_18_213
PaperMikami_2008_Pharmacogenet.Genomics_18_213
NewsFEBRUARY-29-2008
Commentp.K12R Lys12Arg c.35G>A (p.K40R Lys40Arg in primary sequence with 28 amino-acids signal peptide) no change in BCHE activity. Lysine not conserved in other species found in heterozygote from Brazilian population
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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