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Mutation Report for: R386C_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|R386C
Torpedo number|388
Comment|p.R386C Arg386Cys (p.R414C Arg414Cys in primary sequence with 28 amino-acids signal peptide) Found in an homozygous state in a 50 year old woman with almost total BChE deficiency 93U/L
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


    Title: Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
    On-Kei Chan A, Lam CW, Tong SF, Man Tung C, Yung K, Chan YW, Au KM, Yuen YP, Hung CT and Shek CC <1 more author(s)>
    Ref: Clinica Chimica Acta, 351:155, 2005 : PubMed


    Title: Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population
    Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM
    Ref: Clinical Chemistry, 49:1297, 2003 : 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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