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Mutation Report for: Y500X_human-BCHE

Name Class
Y500X_human-BCHEGene_locushuman-BCHE
Torpedo_number502
AA_ChangeY500X
Mode_of_mutationNatural mutant
ModificationNatural mutation
Silent variant
SummaryNatural mutation;Silent phenotype, Non producer;Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61;Primo-Parmo_1996_Am.J.Hum.Genet_58_52
PaperPrimo-Parmo_1992_4th.ChE.Meeting.Eilat__61
Primo-Parmo_1996_Am.J.Hum.Genet_58_52
Commentp.Y500X Tyr500Ter c.1500T>A TAT>TAA (p.Y528X Tyr528Ter in primary sequence with 28 amino-acids signal peptide) Silent phenotype, Non producer
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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