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Mutation Report for: D70G/A539T_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|D70G/A539T
Torpedo number|72//541//72,541
Comment|p.D70G/A539T Asp70Gly/Ala539Thr (p.D98G/A567T Asp70Gly/Ala567Thr in primary sequence with 28 amino-acids signal peptide) A539T co appears with D70G natural mutation. K-variant and Atypical variant
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: Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine
    Garcia DF, Oliveira TG, Molfetta GA, Garcia LV, Ferreira CA, Marques AA, Silva WA, Jr.
    Ref: Genet Mol Biol, 34:40, 2011 : PubMed


    Title: Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy
    Mollerup HM, Gatke MR
    Ref: Acta Anaesthesiologica Scandinavica, 55:82, 2011 : PubMed


    Title: DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites
    Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
    Ref: American Journal of Human Genetics, 50:1086, 1992 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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