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Mutation Report for: A201T_human-BCHE

Name Class
A201T_human-BCHEGene_locushuman-BCHE
Torpedo_number203
AA_ChangeA201T
Mode_of_mutationNatural mutant
ModificationSilent variant
SummarySilent variant:Natural mutation Silent phenotype;Primo-Parmo_1996_Am.J.Hum.Genet_58_52
PaperPrimo-Parmo_1996_Am.J.Hum.Genet_58_52
Commentp.A201T Ala201Thr (p.A229T Ala229Thr in primary sequence with 28 amino-acids signal peptide) Silent phenotype
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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