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Mutation Report for: E497V_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|E497V
Torpedo number|499
Comment|p.E497V Glu497Val (p.E525V Glu525Val in primary sequence with 28 amino-acids signal peptide) Allways associated with the K variant in fact E497V/A539T_human-BCHE (from OMIM) Quantitative J variant; The J variant of human serum butyrylcholinesterase (E1J) causes both an approximately two-thirds reduction of circulating enzyme molecules and a corresponding decrease in the level of BCHE activity in serum. Individuals with the J variant are susceptible to prolonged apnea after succinylcholine. In the family in which Garry et al. (1976) first described the J variant, Bartels et al. (1992) demonstrated an adenine-to-thymine transversion at nucleotide 1490 which changed amino acid 497 from glutamic acid to valine. The J-variant mutation created an RsaI RFLP. The J variant may have a homozygote frequency of about 1:150,000 (Garry et al., 1976; Evans and Wardell, 1984).
Kinetic parameters|none

    Title: The butyrylcholinesterase K-variant shows similar cellular protein turnover and quaternary interaction to the wild-type enzyme
    Altamirano CV, Bartels CF, Lockridge O
    Ref: Journal of Neurochemistry, 74:869, 2000 : PubMed


    Title: An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes
    Simeon-Rudolf V, Kovarik Z, Skrinjaric-Spoljar M, Evans RT
    Ref: Chemico-Biological Interactions, 119-120:159, 1999 : PubMed


    Title: Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants
    Simeon-Rudolf V, Reiner E, Evans RT, George PM, Potter HC
    Ref: Chemico-Biological Interactions, 119-120:165, 1999 : PubMed


    Title: Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan
    Maekawa M, Sudo K, Dey DC, Ishikawa J, Izumi M, Kotani K, Kanno T
    Ref: Clinical Chemistry, 43:924, 1997 : PubMed


    Title: Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe
    Ehrlich G, Ginzberg D, Loewenstein Y, Glick D, Kerem B, Ben-Ari S, Zakut H, Soreq H
    Ref: Genomics, 22:288, 1994 : PubMed


    Title: DNA mutations associated with the human butyrylcholinesterase J-variant
    Bartels CF, James K, La Du BN
    Ref: American Journal of Human Genetics, 50:1104, 1992 : PubMed


    Title: On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population
    Evans RT, Wardell J
    Ref: Journal of Medical Genetics, 21:99, 1984 : PubMed


    Title: New allele at cholinesterase locus 1
    Garry PJ, Dietz AA, Lubrano T, Ford PC, James K, Rubinstein HM
    Ref: Journal of Medical Genetics, 13:38, 1976 : PubMed


    Title: E1j, a quantitative variant at cholinesterase locus 1: immunological evidence
    Rubinstein HM, Dietz AA, Lubrano T, Garry PJ
    Ref: Journal of Medical Genetics, 13:43, 1976 : PubMed


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