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Mutation Report for: L574SfsX2_human-BCHE

Name Class
L574SfsX2_human-BCHEGene_locushuman-BCHE
Torpedo_number575
AA_ChangeL574SfsX2
Mode_of_mutationNatural mutant
ModificationNatural mutant
SummaryNatural mutant;Probably no effect;Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PaperParmo-Folloni_2008_Chem.Biol.Interact_175_135
NewsJUNE-18-2008
Commentp.L574SfsX2 Leu574SfsX2 (p.L602SfsX2 Leu602SfsX2 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) A thymine deletion at nt 1719 leads to a change of the last amino acid from a L to S a modification of the stop codon to N and a new stop codon at codon 576 adds 2aa. Probably no effect
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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