E497V_human-BCHE

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation J-variant (E1j) low level in serum Bartels_1992_Am.J.Hum.Genet_50_1104 || J-variant low level in serum Bartels_1992_Am.J.Hum.Genet_50_1104

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : J-variant || Natural mutation

Torpedo_number : 499

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.E497V Glu497Val (p.E525V Glu525Val in primary sequence with 28 amino-acids signal peptide) Allways associated with the K variant in fact E497V\/A539T_human-BCHE (from OMIM) Quantitative J variant\; The J variant of human serum butyrylcholinesterase (E1J) causes both an approximately two-thirds reduction of circulating enzyme molecules and a corresponding decrease in the level of BCHE activity in serum. Individuals with the J variant are susceptible to prolonged apnea after succinylcholine. In the family in which Garry et al. (1976) first described the J variant, Bartels et al. (1992) demonstrated an adenine-to-thymine transversion at nucleotide 1490 which changed amino acid 497 from glutamic acid to valine. The J-variant mutation created an RsaI RFLP. The J variant may have a homozygote frequency of about 1:150,000 (Garry et al., 1976\; Evans and Wardell, 1984).