Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Fluoride-resistant Natural mutation Fluoride-1 variant not glycosylated at N241(243) Nogueira_1992_Am.J.Hum.Genet_51_821
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Fluoride-resistant
Torpedo_number : 245
Kinetic Parameter : No kinetic parameter
News : No news
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.
| Title : Naturally occurring mutation, Asp70his, in human butyrylcholinesterase - Boeck_2002_Ann.Clin.Biochem_39_154 |
| Author(s) : Boeck AT , Fry DL , Sastre A , Lockridge O |
| Ref : Annals of Clinical Biochemistry , 39 :154 , 2002 |
| Abstract : Boeck_2002_Ann.Clin.Biochem_39_154 |
| ESTHER : Boeck_2002_Ann.Clin.Biochem_39_154 |
| PubMedSearch : Boeck_2002_Ann.Clin.Biochem_39_154 |
| PubMedID: 11928765 |
| Title : Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase - Nogueira_1992_Am.J.Hum.Genet_51_821 |
| Author(s) : 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 |
| Abstract : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| ESTHER : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| PubMedSearch : Nogueira_1992_Am.J.Hum.Genet_51_821 |
| PubMedID: 1415224 |
| Title : Differential inhibition of serum cholinesterase with fluoride. Recognition of two new phenotypes - |
| Author(s) : Harris H , Whittaker M |
| Ref : Nature , 191 :496 , 1961 |
| PubMedID: 13711731 |