Gene Locus : human-BCHE
Mode of mutation : Site directed mutagenesis || Natural mutant
Disease :
Summary : Oxyanion hole no activity Loewenstein-Lichtenstein_1996_Mol.Pharmacol_50_1423 || Silent variant Natural mutation Silent, no activity Primo-Parmo_1992_4th.ChE.Meeting.Eilat__61 Primo-Parmo_1996_Am.J.Hum.Genet_58_52 || Silent variant Natural mutation Increased instability Primo-Parmo_1997_Pharmacogenet_7_27
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Oxyanion hole || Silent variant || Stability
Torpedo_number : 117
Kinetic Parameter : Butyrylthiocholine_G115D_human-BCHE
News : No news
Comment :
p.G115D Gly115Asp (p.G143D Gly143Asp in primary sequence with 28 amino-acids signal peptide) also known as Sil-7 found in patient compound heterozygote with Q172X_human-BCHE by Gatke et al.
| Title : Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report - Schulze-Berge_2025_J.Med.Case.Rep_19_145 |
| Author(s) : Schulze-Berge J , Pillong L , Busse B , Henn W , Nourkami-Tutdibi N , Schmitz D , Huppe T |
| Ref : J Med Case Rep , 19 :145 , 2025 |
| Abstract : |
| PubMedSearch : Schulze-Berge_2025_J.Med.Case.Rep_19_145 |
| PubMedID: 40148900 |
| Title : Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing - Gatke_2001_Anesthesiology_95_600 |
| Author(s) : Gatke MR , Ostergaard D , Bundgaard JR , Varin F , Viby-Mogensen J |
| Ref : Anesthesiology , 95 :600 , 2001 |
| Abstract : |
| PubMedSearch : Gatke_2001_Anesthesiology_95_600 |
| PubMedID: 11575530 |
| Title : Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase - Primo-Parmo_1997_Pharmacogenet_7_27 |
| Author(s) : Primo-Parmo SL , Lightstone H , La Du BN |
| Ref : Pharmacogenetics , 7 :27 , 1997 |
| Abstract : |
| PubMedSearch : Primo-Parmo_1997_Pharmacogenet_7_27 |
| PubMedID: 9110359 |
| 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 : 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 : 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: |