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Mutation Report for: V142M_human-BCHE

Name Class
V142M_human-BCHEGene_locushuman-BCHE
Torpedo_number144
AA_ChangeV142M
Mode_of_mutationNatural mutant
ModificationH-variant
Natural mutation
SummaryNatural mutation;H-variant/low activity;Jensen_1992_Pharmacogenet_2_234
PaperJensen_1992_Pharmacogenet_2_234
Whittaker_1987_Hum.Hered_37_54
Gatke_2007_Pharmacogenet.Genomics_17_995
Commentp.V142M Val142Met (p.V170M Val170Met in primary sequence with 28 amino-acids signal peptide) The H-variant (H variant) is a quantitative variant that reduces enzymatic activity by approximatively 90% Whittaker and Britten. The mutation was found in a patient compound heterozygote together with 328D_human-BCHE Gatke et al.
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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