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Mutation Report for: L574SfsX2_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|L574SfsX2
Torpedo number|575
Comment|p.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
Kinetic parameters|none

    Title: Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576)
    Parmo-Folloni F, Nunes K, Lepienski LM, Mikami LR, Souza RL, Tsuneto LT, Petzl-Erler ML, Chautard-Freire-Maia EA
    Ref: Chemico-Biological Interactions, 175:135, 2008 : PubMed


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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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