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Mutation Report for: D70G_human-BCHE

Mode of mutation|Site directed mutagenesis, Natural mutant
Amino Acid change|D70G
Torpedo number|72
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
Kinetic parameters|1-Naphtylacetate_D70G_human-BCHE,

    Title: Butyrylcholinesterase Atypical Mutation in a Patient Undergoing Electroconvulsive Therapy
    Bulteau S, Etcheverrigaray F, Grall-Bronnec M, Loutrel O, Lejus C, Vanelle JM, Victorri-Vigneau C, Sauvaget A
    Ref: J Ect, 32:e4, 2016 : PubMed


    Title: [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency]
    Mabboux I, Hary B, Courcelle S, Ceppa F, Delacour H
    Ref: Arch Pediatr, 23:497, 2016 : PubMed


    Title: Rapid detection of BCHE atypical variant (p.Asp70Gly) by high resolution melting curve analysis
    Mabboux I, Dos Santos M, Courcelle S, Hary B, Ceppa F, Delacour H
    Ref: Ann Biol Clin (Paris), 72:543, 2014 : PubMed


    Title: Probing the peripheral site of human butyrylcholinesterase
    Macdonald IR, Martin E, Rosenberry TL, Darvesh S
    Ref: Biochemistry, 51:7046, 2012 : PubMed


    Title: Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy
    Mollerup HM, Gatke MR
    Ref: Acta Anaesthesiologica Scandinavica, 55:82, 2011 : PubMed


    Title: Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene
    Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B
    Ref: Mol Genet Metab, 90:210, 2007 : PubMed


    Title: Naturally occurring mutation, Asp70his, in human butyrylcholinesterase
    Boeck AT, Fry DL, Sastre A, Lockridge O
    Ref: Annals of Clinical Biochemistry, 39:154, 2002 : PubMed


    Title: Rapid simultaneous genotyping of the frequent butyrylcholinesterase variants Asp70Gly and Ala539Thr with fluorescent hybridization probes
    Gatke MR, Viby-Mogensen J, Bundgaard JR
    Ref: Scand J Clin Lab Invest, 62:375, 2002 : PubMed


    Title: Analysis of Mutations in the Plasma Cholinesterase Gene of Patients with a History of Prolonged Neuromuscular Block during Anesthesia
    Barta C, Sasvari-Szekely M, Devai A, Kovacs E, Staub M, Enyedi P
    Ref: Mol Genet Metab, 74:484, 2001 : PubMed


    Title: Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates
    Masson P, Xie W, Froment MT, Levitsky V, Fortier PL, Albaret C, Lockridge O
    Ref: Biochimica & Biophysica Acta, 1433:281, 1999 : PubMed


    Title: Structural and hydration changes in the active site gorge of phosporhylated butyrylcholinesterase accompanying the aging process
    Masson P, Fortier PL, Albaret C, Clery C, Guerra P, Lockridge O
    Ref: Chemico-Biological Interactions, 119-120:17, 1999 : PubMed


    Title: An explanation for the different inhibitory characteristics of human serum butyrylcholinesterase phenotypes deriving from inhibition of atypical heterozygotes
    Simeon-Rudolf V, Kovarik Z, Skrinjaric-Spoljar M, Evans RT
    Ref: Chemico-Biological Interactions, 119-120:159, 1999 : PubMed


    Title: Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants
    Simeon-Rudolf V, Reiner E, Evans RT, George PM, Potter HC
    Ref: Chemico-Biological Interactions, 119-120:165, 1999 : PubMed


    Title: Butyrylcholinesterase-catalysed hydrolysis of aspirin, a negatively charged ester, and aspirin-related neutral esters
    Masson P, Froment MT, Fortier PL, Visicchio JE, Bartels CF, Lockridge O
    Ref: Biochimica & Biophysica Acta, 1387:41, 1998 : PubMed


    Title: Aging of di-isopropyl-phosphorylated human butyrylcholinesterase
    Masson P, Fortier PL, Albaret C, Froment MT, Bartels CF, Lockridge O
    Ref: Biochemical Journal, 327 ( Pt 2):601, 1997 : PubMed


    Title: Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase
    Masson P, Legrand P, Bartels CF, Froment MT, Schopfer LM, Lockridge O
    Ref: Biochemistry, 36:2266, 1997 : PubMed


    Title: Importance of aspartate-70 in organophosphate inhibition, oxime re-activation and aging of human butyrylcholinesterase
    Masson P, Froment MT, Bartels CF, Lockridge O
    Ref: Biochemical Journal, 325:53, 1997 : PubMed


    Title: Overlapping drug interaction sites of human butyrylcholinesterase dissected by site-directed mutagenesis
    Loewenstein-Lichtenstein Y, Glick D, Gluzman N, Sternfeld M, Zakut H, Soreq H
    Ref: Molecular Pharmacology, 50:1423, 1996 : PubMed


    Title: Asp7O in the peripheral anionic site of human butyrylcholinesterase
    Masson P, Froment MT, Bartels CF, Lockridge O
    Ref: European Journal of Biochemistry, 235:36, 1996 : PubMed


    Title: Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity
    Hohler T, Hundt M, Rittner C, Schneider PM, Meyer zum Buschenfelde KH
    Ref: Journal of Medical Genetics, 32:109, 1995 : PubMed


    Title: Peripheral Anionic Site of Wild-Type and Mutant Human Butyrylcholinesterase
    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 : PubMed


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


    Title: Intramolecular relationships in cholinesterases revealed by oocyte expression of site-directed and natural variants of human BCHE
    Neville LF, Gnatt A, Loewenstein Y, Seidman S, Ehrlich G, Soreq H
    Ref: EMBO Journal, 11:1641, 1992 : PubMed


    Title: Aspartate-70 to glycine substitution confers resistance to naturally occurring and synthetic anionic-site ligands on in-ovo produced human butyrylcholinesterase
    Neville LF, Gnatt A, Loewenstein Y, Soreq H
    Ref: Journal of Neuroscience Research, 27:452, 1990 : PubMed


    Title: Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase
    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 : PubMed


    Title: Frequencies of atypical serum cholinesterase among Caucasians and Negroes from southern Brazil
    Chautard-Freire-Maia EA, Primo-Parmo SL, Canever de Lourenco MA, Culpi L
    Ref: Hum Hered, 34:388, 1984 : PubMed


    Title: Some statistical data on atypical cholinesterase of human serum
    Kalow W, Gunn DR
    Ref: Annals of Human Genetics, 23:239, 1959 : PubMed


    Title: A method for the detection of atypical forms of human serum cholinesterases. Determination of dibucaine numbers
    Kalow W, Genest K
    Ref: Canadian Journal of Biochemistry, 35:339, 1957 : PubMed


    Title: On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers
    Kalow W, Staron N
    Ref: Canadian Journal of Biochemistry, 35:1305, 1957 : PubMed


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