D70G_human-BCHE

General

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

References (29)

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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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 : 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

Title : Some statistical data on atypical cholinesterase of human serum -
Author(s) : Kalow W , Gunn DR
Ref : Annals of Human Genetics , 23 :239 , 1959
PubMedID: 14404182

Title : A method for the detection of atypical forms of human serum cholinesterases. Determination of dibucaine numbers -
Author(s) : Kalow W , Genest K
Ref : Canadian Journal of Biochemistry , 35 :339 , 1957
PubMedID: 13437188

Title : On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers -
Author(s) : Kalow W , Staron N
Ref : Canadian Journal of Biochemistry , 35 :1305 , 1957
PubMedID: 13479831