Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutant Gatke_2007_Pharmacogenet.Genomics_17_995
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant
Torpedo_number : 330
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.A328D Ala328Asp (p.A356T Ala356Thr in primary sequence with 28 amino-acids signal peptide) Found in a patient compound heterozygote with H variant by Gatke et al. rs770337031
| Title : Understanding the non-catalytic behavior of human butyrylcholinesterase silent variants: comparison of wild-type enzyme, catalytically active Ala328Cys mutant, and silent Ala328Asp variant - Lushchekina_2016_Chem.Biol.Interact_259_223 |
| Author(s) : Lushchekina SV , Nemukhin AV , Varfolomeev SD , Masson P |
| Ref : Chemico-Biological Interactions , 259 :223 , 2016 |
| Abstract : |
| PubMedSearch : Lushchekina_2016_Chem.Biol.Interact_259_223 |
| PubMedID: 27062896 |
| 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 : |
| PubMedSearch : Gatke_2007_Pharmacogenet.Genomics_17_995 |
| PubMedID: 18075469 |