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Mutation Report for: A184V_human-BCHE

Name Class
A184V_human-BCHEGene_locushuman-BCHE
Torpedo_number186
AA_ChangeA184V
Mode_of_mutationNatural mutant
ModificationSilent variant Natural mutation
SummaryNatural mutation;Silent variant;Greenberg_1995_Anesth.Analg_81_419
PaperGreenberg_1995_Anesth.Analg_81_419
Commentp.A184V Ala184Val c.551C>T GCC->GTC (p.A212V Ala212Val in primary sequence with 28 amino-acids signal peptide) Silent variant
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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