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Mutation Report for: VFGGTVT20-26del_human-BChE

Mode of mutation|Natural mutant
Amino Acid change|VFGGTVT20-26del
Torpedo number|22//23//24//25//26//27//28//22,23,24,25,26,27,28
Comment|p.20delValPheGlyGlyThrValThr c.142_162del deletion of seven amino acids. Mutation found in a compound heterozygote with D70G/A539T (K and Atypycal variant) in a 85 year old woman patient with moderate BChE deficiency. Mutant transiently expresses in CHO cells presented no activity
Kinetic parameters|none

    Title: Characterization of four BCHE mutations associated with prolonged effect of suxamethonium
    Brazzolotto X, Courcelle S, Sauvanet C, Guillon V, Igert A, Kononchik J, Nachon F, Ceppa F, Delacour H
    Ref: Pharmacogenomics J, 21(2):165-173:, 2021 : 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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