V142M_human-BCHE
General
Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation H-variant\/low activity Jensen_1992_Pharmacogenet_2_234
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : H-variant || Natural mutation
Torpedo_number : 144
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.V142M Val142Met (p.V170M Val170Met in primary sequence with 28 amino-acids signal peptide) 
The H-variant (H variant) is a quantitative variant that reduces enzymatic activity by approximatively 90\% Whittaker and Britten<\/A>. The mutation was found in a patient compound heterozygote together with 328D_human-BCHE Gatke et al.<\/A>
References (3)
| Title : Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia - Gatke_2007_Pharmacogenet.Genomics_17_995 |
| Author(s) : Gatke MR , Bundgaard JR , Viby-Mogensen J |
| Ref : Pharmacogenet Genomics , 17 :995 , 2007 |
| Abstract : Gatke_2007_Pharmacogenet.Genomics_17_995 |
| ESTHER : Gatke_2007_Pharmacogenet.Genomics_17_995 |
| PubMedSearch : Gatke_2007_Pharmacogenet.Genomics_17_995 |
| PubMedID: 18075469 |
| Title : Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families - Jensen_1992_Pharmacogenet_2_234 |
| Author(s) : Jensen FS , Bartels CF , La Du BN |
| Ref : Pharmacogenetics , 2 :234 , 1992 |
| Abstract : Jensen_1992_Pharmacogenet_2_234 |
| ESTHER : Jensen_1992_Pharmacogenet_2_234 |
| PubMedSearch : Jensen_1992_Pharmacogenet_2_234 |
| PubMedID: 1306123 |
| Title : E1h, a new allele at cholinesterase locus 1 - Whittaker_1987_Hum.Hered_37_54 |
| Author(s) : Whittaker M , Britten JJ |
| Ref : Hum Hered , 37 :54 , 1987 |
| Abstract : Whittaker_1987_Hum.Hered_37_54 |
| ESTHER : Whittaker_1987_Hum.Hered_37_54 |
| PubMedSearch : Whittaker_1987_Hum.Hered_37_54 |
| PubMedID: 3557462 |