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Mutation Report for: G115D_human-BCHE

Mode of mutation|Site directed mutagenesis, Natural mutant
Amino Acid change|G115D
Torpedo number|117
Comment|p.G115D Gly115Asp (p.G143D Gly143Asp in primary sequence with 28 amino-acids signal peptide) also known as Sil-7 found in patient compound heterozygote with Q172X_human-BCHE by Gatke et al.
Kinetic parameters|Butyrylthiocholine_G115D_human-BCHE

    Title: Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing
    Gatke MR, Ostergaard D, Bundgaard JR, Varin F, Viby-Mogensen J
    Ref: Anesthesiology, 95:600, 2001 : PubMed


    Title: Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase
    Primo-Parmo SL, Lightstone H, La Du BN
    Ref: Pharmacogenetics, 7:27, 1997 : PubMed


    Title: Overlapping drug interaction sites of human butyrylcholinesterase dissected by site-directed mutagenesis
    Loewenstein-Lichtenstein Y, Glick D, Gluzman N, Sternfeld M, Zakut H, Soreq H
    Ref: Molecular Pharmacology, 50:1423, 1996 : 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: 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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