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Mutation Report for: G365R_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|G365R
Torpedo number|367
Comment|p.G365R Gly365Arg (p.G393R Gly393Arg in primary sequence with 28 amino-acids signal peptide) the most frequent mutation in Japanese also found as compound heterozygote with Alu sequence insertion Maekawa_2004
Kinetic parameters|none

    Title: Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency
    Maekawa M, Taniguchi T, Ishikawa J, Toyoda S, Takahata N
    Ref: Clinical Chemistry, 50:2410, 2004 : PubMed


    Title: Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
    Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y, Iuchi I
    Ref: Clinica Chimica Acta, 303:61, 2001 : PubMed


    Title: Identification of Missense Mutation (G365R) of the Butyrylcholinesterase (BCHE) Gene in a Japanese Patient with Familial Cholinesterasemia
    Sakamoto N, Maeda T, Hidaka K, Teranishi T, Toyoda M, Onishi Y, Kuroda S, Sakaguchi K, Fujisawa T and Iuchi I <2 more author(s)>
    Ref: Kobe J Med Sci, 47:153, 2001 : PubMed


    Title: Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure
    Asanuma K, Yagihashi A, Uehara N, Kida T, Watanabe N
    Ref: Clinica Chimica Acta, 283:33, 1999 : PubMed


    Title: Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes
    Dey DC, Maekawa M, Sudo K, Kanno T
    Ref: Annals of Clinical Biochemistry, 35:302, 1998 : 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: Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene
    Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN
    Ref: American Journal of Human Genetics, 58:52, 1996 : PubMed


    Title: Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles
    Sudo K, Maekawa M, Kanno T, Akizuki S, Magara T
    Ref: Clinical Biochemistry, 29:165, 1996 : PubMed


    Title: Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes
    Maekawa M, Sudo K, Kanno T, Kotani K, Dey DC, Ishikawa J, Izumi M, Etoh K
    Ref: Clinica Chimica Acta, 235:41, 1995 : PubMed


    Title: [Gene analysis of human cholinesterase variants].
    Muratani K, Hada T, Higashino K
    Ref: Nippon Rinsho Japanese Journal of Clinical Medicine, 51:495, 1993 : PubMed


    Title: A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis
    Hada T, Muratani K, Ohue T, Imanishi H, Moriwaki Y, Itoh M, Amuro Y, Higashino K
    Ref: Intern Med, 31:357, 1992 : PubMed


    Title: [Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese]
    Hidaka K, Iuchi I, Yamasaki T, Ohhara M, Shoda T, Primo-Parmo SL, La Du BN
    Ref: Rinsho Byori, 40:535, 1992 : PubMed


    Title: Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations
    Primo-Parmo SL, Bartels CF
    Ref: In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases, (Shafferman, A. and Velan, B., Eds) Plenum Press, New York:61, 1992 : PubMed


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