G115D_human-BCHE

General

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.

References (5)

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: