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
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
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
PubMedID: 3557462