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Mutation Report for: G390V_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|G390V
Torpedo number|392
Comment|p.G390V Glu390Val (p.G418V Glu418Val in primary sequence with 28 amino-acids signal peptide) also known as F-2 Fluoride-resistant;Fluoride-2 variant/succinylcholine resistance CHE*390V also known as F-2
Kinetic parameters|none

    Title: Recombinant human butyrylcholinesterase G390V, the fluoride-2 variant, expressed in Chinese hamster ovary cells, is a low affinity variant
    Masson P, Adkins S, Gouet P, Lockridge O
    Ref: Journal of Biological Chemistry, 268:14329, 1993 : PubMed


    Title: Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase
    Nogueira CP, Bartels CF, McGuire MC, Adkins S, Lubrano T, Rubinstein HM, Lightstone H, van der Spek AF, Lockridge O, La Du BN
    Ref: American Journal of Human Genetics, 51:821, 1992 : PubMed


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