Gene Locus : human-BCHE
Mode of mutation : Site directed mutagenesis || Natural mutant
Disease :
Summary : Succinylthiocholine binding Higher Km for charged substrates Masson_1997_Biochemistry_36_2266 || Peripheral Anionic Site Higher Km for substrates Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 || Succinylcholine hydrolysis Low hydrolysis McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953 Neville_1990_J.Neurosci.Res_27_452 Neville_1992_EMBO.J_11_1641 Ehrlich_1994_Genomics_22_288 Masson_1995_5th.ChE.Meeting.Madras__230 || Atypical variant Low hydrolysis McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953 Neville_1990_J.Neurosci.Res_27_452 Neville_1992_EMBO.J_11_1641 Ehrlich_1994_Genomics_22_288 Masson_1995_5th.ChE.Meeting.Madras__230 || Dibucaine inhibition Low inhibition McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953 Neville_1990_J.Neurosci.Res_27_452 Neville_1992_EMBO.J_11_1641 Ehrlich_1994_Genomics_22_288 || Aging D70 and E197 function like check valves for water Masson_1999_Chem.Biol.Interact_119-120_17 || Aging D70G increases half-life of aging by DFP 8 times Masson_1997_Biochem.J_327_601 || Aspirin hydrolysis Masson_1998_Biochim.Biophys.Acta_1387_41
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Peripheral Anionic Site || Succinylthiocholine binding || Aging || Atypical variant
Torpedo_number : 72
Kinetic Parameter : Acetylcholine_D70G_human-BCHE, Propionylcholine_D70G_human-BCHE, Butyrylcholine_D70G_human-BCHE, Pentanoylcholine_D70G_human-BCHE, Hexanoylcholine_D70G_human-BCHE, Heptanoylcholine_D70G_human-BCHE, Benzoylcholine_D70G_human-BCHE, Succinyldithiocholine_D70G_human-BCHE, Heroin_D70G_human-BCHE, Procaine_D70G_human-BCHE, Tetracaine_D70G_human-BCHE, O-Nitrophenylbutyrate_D70G_human-BCHE, 1-Naphtylacetate_D70G_human-BCHE, Methylprednisolone-acetate_D70G_human-BCHE, Aspirin_D70G_human-BCHE, Choline_D70G_human-BCHE, Tetramethylammonium_D70G_human-BCHE, Meperidine_D70G_human-BCHE, Succinylcholine~Suxamethonium_D70G_human-BCHE, Decamethonium_D70G_human-BCHE, Chlorpromazine_D70G_human-BCHE, Dibucaine_D70G_human-BCHE, Win5303_D70G_human-BCHE, Win4510_human-BCHE, Vecuronium_D70G_human-BCHE, Pancuronium_D70G_human-BCHE, 17-desoxypancuronium_D70G_human-BCHE, Neostigmine~Prostigmine_D70G_human-BCHE, Dibutyrate-pancuronium_D70G_human-BCHE, Physostigmine~Eserine_D70G_human-BCHE, Ro-2-0683_D70G_human-BCHE, Butyrylthiocholine_D70G_human-BCHE, Tacrine_D70G_human-BCHE, Solanine_D70G_human-BCHE, BW284C51_D70G_human-BCHE, Cocaine_D70G_human-BCHE
News : No news
Comment :
p.D70G Asp70Gly c.293A>G (p.D98G Asp98Gly in primary sequence with 28 amino-acids signal peptide) rs1799807, Atypical variant, CHE1*A, Dibucaine-resistant I CHE*70G, the classic deficiency variant described by Kalow and Gunn (1959), Kalow and Staron (1957) , has a homozygote frequency of about 1:3,000 in white North Americans. (from OMIM) McGuire et al. (1989) found that a mutation in nucleotide 209, which changes codon 70 from GAT to GGT, was the abnormality in all 5 atypical cholinesterase families examined. The mutation caused the loss of a Sau3A1 restriction site. The gene change results in a substitution of glycine for aspartic acid as amino acid 70. This is an acidic to neutral amino acid change which accounts for the reduced affinity of atypical cholinesterase for choline esters. Aspartic acid must be an important component of the anionic site. Atypical BCHE, the classic deficiency variant described by Kalow (1962), Kalow and Gunn (1959), Kalow and Staron (1957), has a homozygote frequency of about 1:3,000 in white North Americans. In the nomenclature system of La Du et al. (1991), this allelic variant is referred to as CHE*70G. Reduced enzyme activity with butyrylthiocholine as substrate\; \; 2-fold lower affinity for butyrylthiocholine\; 10-fold lower affinity for butyrylthiocholine at homozygosity rs1799807
Title : Butyrylcholinesterase Atypical Mutation in a Patient Undergoing Electroconvulsive Therapy - |
Author(s) : Bulteau S , Etcheverrigaray F , Grall-Bronnec M , Loutrel O , Lejus C , Vanelle JM , Victorri-Vigneau C , Sauvaget A |
Ref : J Ect , 32 :e4 , 2016 |
PubMedID: 26439437 |
Title : [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency] - Mabboux_2016_Arch.Pediatr_23_497 |
Author(s) : Mabboux I , Hary B , Courcelle S , Ceppa F , Delacour H |
Ref : Arch Pediatr , 23 :497 , 2016 |
Abstract : |
PubMedSearch : Mabboux_2016_Arch.Pediatr_23_497 |
PubMedID: 27017361 |
Title : Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis - Mabboux_2014_Ann.Biol.Clin.(Paris)_72_543 |
Author(s) : Mabboux I , Dos Santos M , Courcelle S , Hary B , Ceppa F , Delacour H |
Ref : Ann Biol Clin (Paris) , 72 :543 , 2014 |
Abstract : |
PubMedSearch : Mabboux_2014_Ann.Biol.Clin.(Paris)_72_543 |
PubMedID: 25336127 |
Title : Probing the peripheral site of human butyrylcholinesterase - Macdonald_2012_Biochemistry_51_7046 |
Author(s) : Macdonald IR , Martin E , Rosenberry TL , Darvesh S |
Ref : Biochemistry , 51 :7046 , 2012 |
Abstract : |
PubMedSearch : Macdonald_2012_Biochemistry_51_7046 |
PubMedID: 22901043 |
Title : Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy - Mollerup_2011_Acta.Anaesthesiol.Scand_55_82 |
Author(s) : Mollerup HM , Gatke MR |
Ref : Acta Anaesthesiologica Scandinavica , 55 :82 , 2011 |
Abstract : |
PubMedSearch : Mollerup_2011_Acta.Anaesthesiol.Scand_55_82 |
PubMedID: 21029050 |
Title : Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene - Zelinski_2007_Mol.Genet.Metab_90_210 |
Author(s) : Zelinski T , Coghlan G , Mauthe J , Triggs-Raine B |
Ref : Mol Genet Metab , 90 :210 , 2007 |
Abstract : |
PubMedSearch : Zelinski_2007_Mol.Genet.Metab_90_210 |
PubMedID: 17166756 |
Title : Rapid simultaneous genotyping of the frequent butyrylcholinesterase variants Asp70Gly and Ala539Thr with fluorescent hybridization probes - Gatke_2002_Scand.J.Clin.Lab.Invest_62_375 |
Author(s) : Gatke MR , Viby-Mogensen J , Bundgaard JR |
Ref : Scand J Clin Lab Invest , 62 :375 , 2002 |
Abstract : |
PubMedSearch : Gatke_2002_Scand.J.Clin.Lab.Invest_62_375 |
PubMedID: 12387584 |
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 : |
PubMedSearch : Boeck_2002_Ann.Clin.Biochem_39_154 |
PubMedID: 11928765 |
Title : Analysis of Mutations in the Plasma Cholinesterase Gene of Patients with a History of Prolonged Neuromuscular Block during Anesthesia - Barta_2001_Mol.Genet.Metab_74_484 |
Author(s) : Barta C , Sasvari-Szekely M , Devai A , Kovacs E , Staub M , Enyedi P |
Ref : Mol Genet Metab , 74 :484 , 2001 |
Abstract : |
PubMedSearch : Barta_2001_Mol.Genet.Metab_74_484 |
PubMedID: 11749053 |
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 : Structural and hydration changes in the active site gorge of phosporhylated butyrylcholinesterase accompanying the aging process - Masson_1999_Chem.Biol.Interact_119-120_17 |
Author(s) : Masson P , Fortier PL , Albaret C , Clery C , Guerra P , Lockridge O |
Ref : Chemico-Biological Interactions , 119-120 :17 , 1999 |
Abstract : |
PubMedSearch : Masson_1999_Chem.Biol.Interact_119-120_17 |
PubMedID: 10421435 |
Title : Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates - Masson_1999_Biochim.Biophys.Acta_1433_281 |
Author(s) : Masson P , Xie W , Froment MT , Levitsky V , Fortier PL , Albaret C , Lockridge O |
Ref : Biochimica & Biophysica Acta , 1433 :281 , 1999 |
Abstract : |
PubMedSearch : Masson_1999_Biochim.Biophys.Acta_1433_281 |
PubMedID: 10446378 |
Title : Butyrylcholinesterase-catalysed hydrolysis of aspirin, a negatively charged ester, and aspirin-related neutral esters - Masson_1998_Biochim.Biophys.Acta_1387_41 |
Author(s) : Masson P , Froment MT , Fortier PL , Visicchio JE , Bartels CF , Lockridge O |
Ref : Biochimica & Biophysica Acta , 1387 :41 , 1998 |
Abstract : |
PubMedSearch : Masson_1998_Biochim.Biophys.Acta_1387_41 |
PubMedID: 9748494 |
Title : Importance of aspartate-70 in organophosphate inhibition, oxime re-activation and aging of human butyrylcholinesterase - Masson_1997_Biochem.J_325_53 |
Author(s) : Masson P , Froment MT , Bartels CF , Lockridge O |
Ref : Biochemical Journal , 325 :53 , 1997 |
Abstract : |
PubMedSearch : Masson_1997_Biochem.J_325_53 |
PubMedID: 9224629 |
Title : Aging of di-isopropyl-phosphorylated human butyrylcholinesterase - Masson_1997_Biochem.J_327_601 |
Author(s) : Masson P , Fortier PL , Albaret C , Froment MT , Bartels CF , Lockridge O |
Ref : Biochemical Journal , 327 ( Pt 2) :601 , 1997 |
Abstract : |
PubMedSearch : Masson_1997_Biochem.J_327_601 |
PubMedID: 9359435 |
Title : Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase - Masson_1997_Biochemistry_36_2266 |
Author(s) : Masson P , Legrand P , Bartels CF , Froment MT , Schopfer LM , Lockridge O |
Ref : Biochemistry , 36 :2266 , 1997 |
Abstract : |
PubMedSearch : Masson_1997_Biochemistry_36_2266 |
PubMedID: 9047329 |
Title : Overlapping drug interaction sites of human butyrylcholinesterase dissected by site-directed mutagenesis - Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 |
Author(s) : Loewenstein-Lichtenstein Y , Glick D , Gluzman N , Sternfeld M , Zakut H , Soreq H |
Ref : Molecular Pharmacology , 50 :1423 , 1996 |
Abstract : |
PubMedSearch : Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 |
PubMedID: 8967962 |
Gene_locus related to this paper: human-BCHE |
Title : Asp7O in the peripheral anionic site of human butyrylcholinesterase - Masson_1996_Eur.J.Biochem_235_36 |
Author(s) : Masson P , Froment MT , Bartels CF , Lockridge O |
Ref : European Journal of Biochemistry , 235 :36 , 1996 |
Abstract : |
PubMedSearch : Masson_1996_Eur.J.Biochem_235_36 |
PubMedID: 8631355 |
Title : Cholinesterase variants: rapid characterisation by PCR\/SSCP and evidence for molecular homogeneity - Hohler_1995_J.Med.Genet_32_109 |
Author(s) : Hohler T , Hundt M , Rittner C , Schneider PM , Meyer zum Buschenfelde KH |
Ref : Journal of Medical Genetics , 32 :109 , 1995 |
Abstract : |
PubMedSearch : Hohler_1995_J.Med.Genet_32_109 |
PubMedID: 7760318 |
Title : Peripheral Anionic Site of Wild-Type and Mutant Human Butyrylcholinesterase - |
Author(s) : Masson P , Froment MT , Bartels CF , Lockridge O |
Ref : In Enzyme of the Cholinesterase Family - Proceedings of Fifth International Meeting on Cholinesterases , (Quinn, D.M., Balasubramanian, A.S., Doctor, B.P., Taylor, P., Eds) Plenum Publishing Corp. :230 , 1995 |
PubMedID: |
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 : Intramolecular relationships in cholinesterases revealed by oocyte expression of site-directed and natural variants of human BCHE - Neville_1992_EMBO.J_11_1641 |
Author(s) : Neville LF , Gnatt A , Loewenstein Y , Seidman S , Ehrlich G , Soreq H |
Ref : EMBO Journal , 11 :1641 , 1992 |
Abstract : |
PubMedSearch : Neville_1992_EMBO.J_11_1641 |
PubMedID: 1373381 |
Title : Aspartate-70 to glycine substitution confers resistance to naturally occurring and synthetic anionic-site ligands on in-ovo produced human butyrylcholinesterase - Neville_1990_J.Neurosci.Res_27_452 |
Author(s) : Neville LF , Gnatt A , Loewenstein Y , Soreq H |
Ref : Journal of Neuroscience Research , 27 :452 , 1990 |
Abstract : |
PubMedSearch : Neville_1990_J.Neurosci.Res_27_452 |
PubMedID: 2079709 |
Gene_locus related to this paper: human-BCHE |
Title : Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase - McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953 |
Author(s) : McGuire MC , Nogueira CP , Bartels CF , Lightstone H , Hajra A , van der Spek AF , Lockridge O , La Du BN |
Ref : Proc Natl Acad Sci U S A , 86 :953 , 1989 |
Abstract : |
PubMedSearch : McGuire_1989_Proc.Natl.Acad.Sci.U.S.A_86_953 |
PubMedID: 2915989 |
Title : Frequencies of atypical serum cholinesterase among Caucasians and Negroes from southern Brazil - Chautard-Freire-Maia_1984_Hum.Hered_34_388 |
Author(s) : Chautard-Freire-Maia EA , Primo-Parmo SL , Canever de Lourenco MA , Culpi L |
Ref : Hum Hered , 34 :388 , 1984 |
Abstract : |
PubMedSearch : Chautard-Freire-Maia_1984_Hum.Hered_34_388 |
PubMedID: 6510934 |