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Mutation Report for: A34V_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|A34V
Torpedo number|36
Comment|p.A34V Ala34Val c.185C>T (p.A62V Ala62Val in primary sequence with 28 amino-acids signal peptide) in a compound heterozygote with D70G prolonged neuromuscular block after administration of suxamethonium or mivacurium. Daughter of the proband simple heterozygote had normal BChE activity
Kinetic parameters|none

    Title: Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), silent with mivacurium
    Delacour H, Lushchekina SV, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O
    Ref: Biochemical Pharmacology, 92:476, 2014 : 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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