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Mutation Report for: T315NfsX7_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|T315NfsX7
Torpedo number|317
Comment|p.T315NfsX7 Thr315fsTer7 c.1020_1021InsA codon 315 ACC->AACC (p.T343NfsX7 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) Silent variant rs754214624
Kinetic parameters|none

    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: A family with hereditary serum cholinesterase deficiency
    Hirasaki S, Koide N, Ujike K, Yamamoto H, Fujita Y, Tanigawa T
    Ref: Internal Medicine, 34:632, 1995 : PubMed


    Title: Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia
    Iida S, Kinoshita M, Fujii H, Moriyama Y, Nakamura Y, Yura N, Moriwaki K
    Ref: Hum Mutat, 6:349, 1995 : 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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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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