Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation K-variant\/low activity Bartels_1992_Am.J.Hum.Genet_50_1086 Bartels_1992_Am.J.Hum.Genet_50_1104 Ehrlich_1994_Genomics_22_288 || Natural mutation Silent phenotype? Maekawa_1995_Clin.Chim.Acta_235_41
AAA Change :
Allelic Variant :
Risk Factor : Late-onset Alzheimer disease
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : K-variant || Natural mutation || Silent variant
Torpedo_number : 541
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.A539T Ala539Thr (p.A567T Ala567Thr in primary sequence with 28 amino-acids signal peptide) K Variant, Kalow variant, Quantitative K polymorphism\; CHE*539T CHE1*K, K allele (from OMIM) The K variant of butyrylcholinesterase, named in honor of Werner Kalow, was first recognized through the use of dibucaine inhibition by Rubinstein et al. (1978). They found that the compound heterozygote for the atypical (A, or dibucaine-resistant) gene and the K gene, the AK individual, exhibited lower dibucaine inhibition that did the UA heterozygote (U = usual), because of a one-third reduction in BCHE activity produced by the K-variant allele. Bartels et al. (1992) found that the basis of the K-variant phenotype was a point mutation at nucleotide 1615 that changed codon 539 from GCA (ala) to ACA (thr). The allele produced a 30\% reduction of serum butyrylcholinesterase activity. They estimated the frequency of the K-variant allele to be 0.128. They also found that the K-variant mutation was present in 17 of 19 BCHE genes containing the point mutation that causes the atypical phenotype, asp70-to-gly. Rubinstein et al. (1978) and Whittaker and Britten (1988) had estimated the homozygote frequency at 1:100, whereas Evans and Wardell (1984) had placed it somewhat higher, 1:76. SNP BChE rs1803274
| Title : Onset of Alzheimer disease in apolipoprotein sigma4 carriers is earlier in butyrylcholinesterase K variant carriers - Lane_2024_BMC.Neurol_24_116 |
| Author(s) : Lane RM , Darreh-Shori T , Junge C , Li D , Yang Q , Edwards AL , Graham DL , Moore K , Mummery CJ |
| Ref : BMC Neurol , 24 :116 , 2024 |
| PubMedID: 38594621 |
| Gene_locus related to this paper: human-BCHE |
| Title : Dysregulation of butyrylcholinesterase, BCHE gene SNP rs1803274, and pro-inflammatory cytokines in occupational workers - Khan_2022_Environ.Res__115195 |
| Author(s) : Khan SA , Leonel Javeres MN , Abbas Shah ST , Bibi N , Muneer Z , Hussain S , Nepovimova E , Kuca K , Nurulain SM |
| Ref : Environ Research , :115195 , 2022 |
| PubMedID: 36592809 |
| Title : K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt - Rosler_2018_Sci.Rep_8_16525 |
| Author(s) : Rosler TW , Salama M , Shalash AS , Khedr EM , El-Tantawy A , Fawi G , El-Motayam A , El-Seidy E , El-Sherif M , El-Gamal M , Moharram M , El-Kattan M , Abdel-Naby M , Ashour S , Muller U , Dempfle A , Kuhlenbaumer G , Hoglinger GU |
| Ref : Sci Rep , 8 :16525 , 2018 |
| PubMedID: 30410011 |
| Title : Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women - Oliveira_2017_Genet.Mol.Biol__0 |
| Author(s) : Oliveira J , Tureck LV , Santos WD , Saliba LF , Schenknecht CS , Scaraboto D , de Souza RLR , Furtado-Alle L |
| Ref : Genet Mol Biol , :0 , 2017 |
| PubMedID: 28497838 |
| Title : Plasma butyrylcholinesterase activity: a possible biomarker for differential diagnosis between Alzheimer's disease and dementia with Lewy bodies? - Josviak_2017_Int.J.Neurosci__1 |
| Author(s) : Josviak ND , Batistela MS , Souza RKM , Wegner NR , Bono GF , Sulzbach CD , Simao-Silva DP , Piovezan MR , de Souza RLR , Furtado-Alle L |
| Ref : International Journal of Neuroscience , :1 , 2017 |
| PubMedID: 28504037 |
| Title : Association between butyrylcholinesterase K variant and mild cognitive impairment in the Thai community-dwelling patients - Pongthanaracht_2017_Clin.Interv.Aging_12_897 |
| Author(s) : Pongthanaracht N , Yanarojana S , Pinthong D , Unchern S , Thithapandha A , Assantachai P , Supavilai P |
| Ref : Clin Interv Aging , 12 :897 , 2017 |
| PubMedID: 28603409 |
| 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 |
| PubMedID: 27017361 |
| Title : -116A and K BCHE gene variants associated with obesity and hypertriglyceridemia in adolescents from Southern Brazil - Chaves_2013_Chem.Biol.Interact_203_341 |
| Author(s) : Chaves TJ , Leite N , Milano GE , de Souza RLR , Chautard-Freire-Maia EA , Furtado-Alle L |
| Ref : Chemico-Biological Interactions , 203 :341 , 2013 |
| PubMedID: 23000450 |
| Title : Association analysis between K and -116A variants of butyrylcholinesterase and Alzheimer's disease in a Brazilian population - Simao-Silva_2013_Chem.Biol.Interact_203_358 |
| Author(s) : Simao-Silva DP , Bertolucci PH , de Labio RW , Payao SL , Furtado-Alle L , de Souza RLR |
| Ref : Chemico-Biological Interactions , 203 :358 , 2013 |
| PubMedID: 23022600 |
| Title : Variation of the butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) genes in coronary artery disease - Scacchi_2011_Clin.Chim.Acta_412_1341 |
| Author(s) : Scacchi R , Ruggeri M , Corbo RM |
| Ref : Clinica Chimica Acta , 412 :1341 , 2011 |
| PubMedID: 21473860 |
| 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 |
| PubMedID: 21029050 |
| Title : BuChE K variant is decreased in Alzheimer's disease not in fronto-temporal dementia - Bizzarro_2010_J.Neural.Transm.(Vienna)_117_377 |
| Author(s) : Bizzarro A , Guglielmi V , Lomastro R , Valenza A , Lauria A , Marra C , Silveri MC , Tiziano FD , Brahe C , Masullo C |
| Ref : J Neural Transm (Vienna) , 117 :377 , 2010 |
| PubMedID: 20058037 |
| Title : Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine - Scacchi_2009_Am.J.Med.Genet.B.Neuropsychiatr.Genet_150B_502 |
| Author(s) : Scacchi R , Gambina G , Moretto G , Corbo RM |
| Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 150B :502 , 2009 |
| PubMedID: 18780301 |
| 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 |
| PubMedID: 17166756 |
| Title : Novel mutation and multiple mutations found in the human butyrylcholinesterase gene - Liu_2002_Clin.Chim.Acta_326_193 |
| Author(s) : Liu W , Cheng J , Iwasaki A , Imanishi H , Hada T |
| Ref : Clinica Chimica Acta , 326 :193 , 2002 |
| PubMedID: 12417112 |
| 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 |
| 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 |
| PubMedID: 11749053 |
| Title : Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland - McIlroy_2000_J.Med.Genet_37_182 |
| Author(s) : McIlroy SP , Crawford VL , Dynan KB , McGleenon BM , Vahidassr MD , Lawson JT , Passmore AP |
| Ref : Journal of Medical Genetics , 37 :182 , 2000 |
| PubMedID: 10699053 |
| Title : Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease - Lehmann_2000_Hum.Genet_106_447 |
| Author(s) : Lehmann DJ , Nagy Z , Litchfield S , Borja MC , Smith AD |
| Ref : Hum Genet , 106 :447 , 2000 |
| PubMedID: 10830913 |
| 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 |
| PubMedID: 10646540 |
| Title : Butyrycholinesterase K variant and Alzheimer's disease - Panegyres_1999_J.Neurol_246_369 |
| Author(s) : Panegyres PK , Mamotte CD , Vasikaran SD , Wilton S , Fabian V , Kakulas BA |
| Ref : Journal of Neurology , 246 :369 , 1999 |
| PubMedID: 10399868 |
| Title : Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease - Wiebusch_1999_Hum.Genet_104_158 |
| Author(s) : Wiebusch H , Poirier J , Sevigny P , Schappert K |
| Ref : Hum Genet , 104 :158 , 1999 |
| PubMedID: 10190327 |
| 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 |
| 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 |
| PubMedID: 10421450 |
| Title : No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease - Singleton_1998_Hum.Mol.Genet_7_937 |
| Author(s) : Singleton AB , Smith G , Gibson AM , Woodward R , Perry RH , Ince PG , Edwardson JA , Morris CM |
| Ref : Hum Mol Genet , 7 :937 , 1998 |
| PubMedID: 9536100 |
| Title : Frequencies of the butyrylcholinesterase K mutation in Brazilian populations of European and African origin - Souza_1998_Hum.Biol_70_965 |
| Author(s) : de Souza RLR , Castro RM , Pereira L , Freund AA , Culpi L , Chautard-Freire-Maia EA |
| Ref : Hum Biol , 70 :965 , 1998 |
| PubMedID: 9780523 |
| Title : Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes - Dey_1998_Ann.Clin.Biochem_35_302 |
| Author(s) : Dey DC , Maekawa M , Sudo K , Kanno T |
| Ref : Annals of Clinical Biochemistry , 35 :302 , 1998 |
| PubMedID: 9547905 |
| Gene_locus related to this paper: human-BCHE |
| Title : A new point mutation in cholinesterase: relationship between multiple mutation sites and enzyme activity - Takagi_1997_Internat.Hepat.Com_6_288 |
| Author(s) : Takagi H , Narahara A , Takayama H , Shimoda R , Nagamine T , Mori M |
| Ref : International Hepatology Communications , 6 :288 , 1997 |
| PubMedID: |
| Title : Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease - Lehmann_1997_Hum.Mol.Genet_6_1933 |
| Author(s) : Lehmann DJ , Johnston C , Smith AD |
| Ref : Hum Mol Genet , 6 :1933 , 1997 |
| PubMedID: 9302273 |
| Title : Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes - Maekawa_1995_Clin.Chim.Acta_235_41 |
| Author(s) : Maekawa M , Sudo K , Kanno T , Kotani K , Dey DC , Ishikawa J , Izumi M , Etoh K |
| Ref : Clinica Chimica Acta , 235 :41 , 1995 |
| PubMedID: 7634491 |
| Title : A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA) - Shibuta_1994_J.Med.Genet_31_576 |
| Author(s) : Shibuta K , Abe M , Suzuki T |
| Ref : Journal of Medical Genetics , 31 :576 , 1994 |
| PubMedID: 7966197 |
| 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 |
| 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 |
| PubMedID: 1349196 |
| Title : DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites - Bartels_1992_Am.J.Hum.Genet_50_1086 |
| Author(s) : Bartels CF , Jensen FS , Lockridge O , van der Spek AF , Rubinstein HM , Lubrano T , La Du BN |
| Ref : American Journal of Human Genetics , 50 :1086 , 1992 |
| PubMedID: 1570838 |
| Title : Frequency of the CHE1*K allele of serum cholinesterase in a sample from southern Brazil - Alcantara_1990_Hum.Hered_40_386 |
| Author(s) : Alcantara VM , Chautard-Freire-Maia EA , Picheth G , Vieira MM |
| Ref : Hum Hered , 40 :386 , 1990 |
| PubMedID: 2083951 |
| Title : Recognition of two new phenotypes segregating the E1k allele for plasma cholinesterase - Whittaker_1988_Hum.Hered_38_233 |
| Author(s) : Whittaker M , Britten JJ |
| Ref : Hum Hered , 38 :233 , 1988 |
| PubMedID: 3169798 |
| 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 |
| PubMedID: 6716425 |
| Title : E1k, another quantitative variant at cholinesterase locus 1 - Rubinstein_1978_J.Med.Genet_15_27 |
| Author(s) : Rubinstein HM , Dietz AA , Lubrano T |
| Ref : Journal of Medical Genetics , 15 :27 , 1978 |
| PubMedID: 416211 |