A539T_human-BCHE

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation K-variant\/low activity Bartels_1992_Am.J.Hum.Genet_50_1086 Bartels_1992_Am.J.Hum.Genet_50_1104 Ehrlich_1994_Genomics_22_288 || Natural mutation Silent phenotype? Maekawa_1995_Clin.Chim.Acta_235_41

AAA Change :

Allelic Variant :

Risk Factor : Late-onset Alzheimer disease

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : K-variant || Natural mutation || Silent variant

Torpedo_number : 541

Kinetic Parameter : No kinetic parameter

News : No news

Comment : p.A539T Ala539Thr (p.A567T Ala567Thr in primary sequence with 28 amino-acids signal peptide) K Variant, Kalow variant, Quantitative K polymorphism\; CHE*539T CHE1*K, K allele (from OMIM) The K variant of butyrylcholinesterase, named in honor of Werner Kalow, was first recognized through the use of dibucaine inhibition by Rubinstein et al. (1978). They found that the compound heterozygote for the atypical (A, or dibucaine-resistant) gene and the K gene, the AK individual, exhibited lower dibucaine inhibition that did the UA heterozygote (U = usual), because of a one-third reduction in BCHE activity produced by the K-variant allele. Bartels et al. (1992) found that the basis of the K-variant phenotype was a point mutation at nucleotide 1615 that changed codon 539 from GCA (ala) to ACA (thr). The allele produced a 30\% reduction of serum butyrylcholinesterase activity. They estimated the frequency of the K-variant allele to be 0.128. They also found that the K-variant mutation was present in 17 of 19 BCHE genes containing the point mutation that causes the atypical phenotype, asp70-to-gly. Rubinstein et al. (1978) and Whittaker and Britten (1988) had estimated the homozygote frequency at 1:100, whereas Evans and Wardell (1984) had placed it somewhat higher, 1:76. SNP BChE rs1803274