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Mutation Report for: T243M_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|T243M
Torpedo number|245
Comment|p.T243M Thr243Met (p.T271M Thr271Met in primary sequence with 28 amino-acids signal peptide) (from OMIM) Fluoride-resistant I, F-1 CHE*243M Harris and Whittaker (1961) described this variant which has a homozygote frequency of about 1:150,000. The fluoride variant of human butyrylcholinesterase owes its name to the observation that it is resistant to inhibition by 0.050 mM sodium fluoride in the in vitro assay. Individuals who are compound heterozygotes for the fluoride and atypical alleles experience about 30 min of apnea, rather than the usual 3-5 min, after receiving succinyldicholine.
Kinetic parameters|none

    Title: Naturally occurring mutation, Asp70his, in human butyrylcholinesterase
    Boeck AT, Fry DL, Sastre A, Lockridge O
    Ref: Annals of Clinical Biochemistry, 39:154, 2002 : 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


    Title: Differential inhibition of serum cholinesterase with fluoride. Recognition of two new phenotypes
    Harris H, Whittaker M
    Ref: Nature, 191:496, 1961 : PubMed


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