Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation,Silent phenotype Non-producer Primo-Parmo_1996_Am.J.Hum.Genet_58_52,Maekawa_1995_Clin.Chim.Acta_235_41, Hidaka_1992_Rinsho.Byori_40_535 || Silent variant Natural mutation,Silent phenotype Maekawa_1995_Clin.Chim.Acta_235_41 || Silent variant Natural mutation,Silent phenotype Hidaka_1992_Rinsho.Byori_40_535
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant Natural mutation || Natural mutation
Torpedo_number : 367
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.G365R Gly365Arg (p.G393R Gly393Arg in primary sequence with 28 amino-acids signal peptide) the most frequent mutation in Japanese also found as compound heterozygote with Alu sequence insertion Maekawa_2004. Compound heterozygote for (Gly365Arg) and K-variant (Ala539Thr) in a 52-year-old man undergoing dialysis Tokunaga 2024
| Title : The First-Known Case of Hereditary Heterozygous Butyrylcholinesterase Deficiency in a Patient on Dialysis - Tokunaga_2024_Cureus_16_e53153 |
| Author(s) : Tokunaga N , Shima H , Okamoto T , Maekawa M , Minakuchi J |
| Ref : Cureus , 16 :e53153 , 2024 |
| Abstract : |
| PubMedSearch : Tokunaga_2024_Cureus_16_e53153 |
| PubMedID: 38420074 |
| Title : Problem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency - |
| Author(s) : Maekawa M , Taniguchi T , Ishikawa J , Toyoda S , Takahata N |
| Ref : Clinical Chemistry , 50 :2410 , 2004 |
| PubMedID: 15563496 |
| Title : Identification of Missense Mutation (G365R) of the Butyrylcholinesterase (BCHE) Gene in a Japanese Patient with Familial Cholinesterasemia - Sakamoto_2001_Kobe.J.Med.Sci_47_153 |
| Author(s) : Sakamoto N , Maeda T , Hidaka K , Teranishi T , Toyoda M , Onishi Y , Kuroda S , Sakaguchi K , Fujisawa T , Maeda M , Watanabe Y , Iuchi I |
| Ref : Kobe J Med Sci , 47 :153 , 2001 |
| Abstract : |
| PubMedSearch : Sakamoto_2001_Kobe.J.Med.Sci_47_153 |
| PubMedID: 11733654 |
| Title : Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping - Hidaka_2001_Clin.Chim.Acta_303_61 |
| Author(s) : Hidaka K , Watanabe Y , Tomita M , Ueda N , Higashi M , Minatogawa Y , Iuchi I |
| Ref : Clinica Chimica Acta , 303 :61 , 2001 |
| Abstract : |
| PubMedSearch : Hidaka_2001_Clin.Chim.Acta_303_61 |
| PubMedID: 11163024 |
| Title : Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure - Asanuma_1999_Clin.Chim.Acta_283_33 |
| Author(s) : Asanuma K , Yagihashi A , Uehara N , Kida T , Watanabe N |
| Ref : Clinica Chimica Acta , 283 :33 , 1999 |
| Abstract : |
| PubMedSearch : Asanuma_1999_Clin.Chim.Acta_283_33 |
| PubMedID: 10404729 |
| 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 |
| Abstract : |
| PubMedSearch : Dey_1998_Ann.Clin.Biochem_35_302 |
| PubMedID: 9547905 |
| Gene_locus related to this paper: human-BCHE |
| 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 : Three different point mutations in the butyrylcholinesterase gene of three Japanese subjects with a silent phenotype: possible Japanese type alleles - Sudo_1996_Clin.Biochem_29_165 |
| Author(s) : Sudo K , Maekawa M , Kanno T , Akizuki S , Magara T |
| Ref : Clinical Biochemistry , 29 :165 , 1996 |
| Abstract : |
| PubMedSearch : Sudo_1996_Clin.Biochem_29_165 |
| PubMedID: 8601326 |
| Title : Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene - Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
| Author(s) : Primo-Parmo SL , Bartels CF , Wiersema B , van der Spek AF , Innis JW , La Du BN |
| Ref : American Journal of Human Genetics , 58 :52 , 1996 |
| Abstract : |
| PubMedSearch : Primo-Parmo_1996_Am.J.Hum.Genet_58_52 |
| PubMedID: 8554068 |
| 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 |
| Abstract : |
| PubMedSearch : Maekawa_1995_Clin.Chim.Acta_235_41 |
| PubMedID: 7634491 |
| Title : [Gene analysis of human cholinesterase variants]. - Muratani_1993_Japanese.J.Clin.Med_51_495 |
| Author(s) : Muratani K , Hada T , Higashino K |
| Ref : Nippon Rinsho Japanese Journal of Clinical Medicine , 51 :495 , 1993 |
| Abstract : |
| PubMedSearch : Muratani_1993_Japanese.J.Clin.Med_51_495 |
| PubMedID: 8464162 |
| Title : [Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese] - Hidaka_1992_Rinsho.Byori_40_535 |
| Author(s) : Hidaka K , Iuchi I , Yamasaki T , Ohhara M , Shoda T , Primo-Parmo SL , La Du BN |
| Ref : Rinsho Byori , 40 :535 , 1992 |
| Abstract : |
| PubMedSearch : Hidaka_1992_Rinsho.Byori_40_535 |
| PubMedID: 1507480 |
| Title : A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis - Hada_1992_Intern.Med_31_357 |
| Author(s) : Hada T , Muratani K , Ohue T , Imanishi H , Moriwaki Y , Itoh M , Amuro Y , Higashino K |
| Ref : Intern Med , 31 :357 , 1992 |
| Abstract : |
| PubMedSearch : Hada_1992_Intern.Med_31_357 |
| PubMedID: 1611188 |
| Title : Heterogeneity of the Silent Phenotype of Human Butyrylcholinesterase - Identification of Eight New Mutations - |
| Author(s) : Primo-Parmo SL , Bartels CF |
| Ref : In Multidisciplinary approaches to cholinesterase functions - Proceedings of Fourth International Meeting on Cholinesterases , (Shafferman, A. and Velan, B., Eds) Plenum Press, New York :61 , 1992 |
| PubMedID: |