Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent Non-producer ACC->AACC Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61, 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
Torpedo_number : 317
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.T315NfsX7 Thr315fsTer7 c.1020_1021InsA codon 315 ACC->AACC (p.T343NfsX7 Thr343fsTer7 in the primary sequence with the 28 amino-acids signal peptide) Silent variant rs754214624
| Title : Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity - On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| Author(s) : On-Kei Chan A , Lam CW , Tong SF , Man Tung C , Yung K , Chan YW , Au KM , Yuen YP , Hung CT , Ng KP , Shek CC |
| Ref : Clinica Chimica Acta , 351 :155 , 2005 |
| Abstract : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| ESTHER : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| PubMedSearch : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| PubMedID: 15563885 |
| Title : Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia - |
| Author(s) : Iida S , Kinoshita M , Fujii H , Moriyama Y , Nakamura Y , Yura N , Moriwaki K |
| Ref : Hum Mutat , 6 :349 , 1995 |
| PubMedID: 8680411 |
| Title : A family with hereditary serum cholinesterase deficiency - Hirasaki_1995_Int.Med_34_632 |
| Author(s) : Hirasaki S , Koide N , Ujike K , Yamamoto H , Fujita Y , Tanigawa T |
| Ref : Internal Medicine , 34 :632 , 1995 |
| Abstract : Hirasaki_1995_Int.Med_34_632 |
| ESTHER : Hirasaki_1995_Int.Med_34_632 |
| PubMedSearch : Hirasaki_1995_Int.Med_34_632 |
| PubMedID: 7496072 |
| 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: |
| 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 : Hidaka_1992_Rinsho.Byori_40_535 |
| ESTHER : Hidaka_1992_Rinsho.Byori_40_535 |
| PubMedSearch : Hidaka_1992_Rinsho.Byori_40_535 |
| PubMedID: 1507480 |