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Mutation Report for: V142M_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|V142M
Torpedo number|144
Comment|p.V142M Val142Met (p.V170M Val170Met in primary sequence with 28 amino-acids signal peptide) The H-variant (H variant) is a quantitative variant that reduces enzymatic activity by approximatively 90% Whittaker and Britten. The mutation was found in a patient compound heterozygote together with 328D_human-BCHE Gatke et al.
Kinetic parameters|none

    Title: Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia
    Gatke MR, Bundgaard JR, Viby-Mogensen J
    Ref: Pharmacogenet Genomics, 17:995, 2007 : PubMed


    Title: Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families
    Jensen FS, Bartels CF, La Du BN
    Ref: Pharmacogenetics, 2:234, 1992 : PubMed


    Title: E1h, a new allele at cholinesterase locus 1
    Whittaker M, Britten JJ
    Ref: Hum Hered, 37:54, 1987 : PubMed


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