E497V_human-BCHE

General

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).

References (9)

Title : The butyrylcholinesterase K-variant shows similar cellular protein turnover and quaternary interaction to the wild-type enzyme - Altamirano_2000_J.Neurochem_74_869
Author(s) : Altamirano CV , Bartels CF , Lockridge O
Ref : Journal of Neurochemistry , 74 :869 , 2000
Abstract :
PubMedSearch : Altamirano_2000_J.Neurochem_74_869
PubMedID: 10646540

Title : An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes - Simeon-Rudolf_1999_Chem.Biol.Interact_119-120_159
Author(s) : Simeon-Rudolf V , Kovarik Z , Skrinjaric-Spoljar M , Evans RT
Ref : Chemico-Biological Interactions , 119-120 :159 , 1999
Abstract :
PubMedSearch : Simeon-Rudolf_1999_Chem.Biol.Interact_119-120_159
PubMedID: 10421449

Title : Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants - Simeon-Rudolf_1999_Chem.Biol.Interact_119-120_165
Author(s) : Simeon-Rudolf V , Reiner E , Evans RT , George PM , Potter HC
Ref : Chemico-Biological Interactions , 119-120 :165 , 1999
Abstract :
PubMedSearch : Simeon-Rudolf_1999_Chem.Biol.Interact_119-120_165
PubMedID: 10421450

Title : Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan - Maekawa_1997_Clin.Chem_43_924
Author(s) : Maekawa M , Sudo K , Dey DC , Ishikawa J , Izumi M , Kotani K , Kanno T
Ref : Clinical Chemistry , 43 :924 , 1997
Abstract :
PubMedSearch : Maekawa_1997_Clin.Chem_43_924
PubMedID: 9191541

Title : Population diversity and distinct haplotype frequencies associated with ACHE and BCHE genes of Israeli Jews from trans-Caucasian Georgia and from Europe - Ehrlich_1994_Genomics_22_288
Author(s) : Ehrlich G , Ginzberg D , Loewenstein Y , Glick D , Kerem B , Ben-Ari S , Zakut H , Soreq H
Ref : Genomics , 22 :288 , 1994
Abstract :
PubMedSearch : Ehrlich_1994_Genomics_22_288
PubMedID: 7806214

Title : DNA mutations associated with the human butyrylcholinesterase J-variant - Bartels_1992_Am.J.Hum.Genet_50_1104
Author(s) : Bartels CF , James K , La Du BN
Ref : American Journal of Human Genetics , 50 :1104 , 1992
Abstract :
PubMedSearch : Bartels_1992_Am.J.Hum.Genet_50_1104
PubMedID: 1349196

Title : On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population - Evans_1984_J.Med.Genet_21_99
Author(s) : Evans RT , Wardell J
Ref : Journal of Medical Genetics , 21 :99 , 1984
Abstract :
PubMedSearch : Evans_1984_J.Med.Genet_21_99
PubMedID: 6716425

Title : New allele at cholinesterase locus 1 - Garry_1976_J.Med.Genet_13_38
Author(s) : Garry PJ , Dietz AA , Lubrano T , Ford PC , James K , Rubinstein HM
Ref : Journal of Medical Genetics , 13 :38 , 1976
Abstract :
PubMedSearch : Garry_1976_J.Med.Genet_13_38
PubMedID: 1271425

Title : E1j, a quantitative variant at cholinesterase locus 1: immunological evidence - Rubinstein_1976_J.Med.Genet_13_43
Author(s) : Rubinstein HM , Dietz AA , Lubrano T , Garry PJ
Ref : Journal of Medical Genetics , 13 :43 , 1976
Abstract :
PubMedSearch : Rubinstein_1976_J.Med.Genet_13_43
PubMedID: 818383