Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Wichmann_2016_Pharmacogenet.Genomics_26_351
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant Natural mutation
Torpedo_number : 441
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.G439S Gly439Ser c.1399 GGC->AGC (G467S Gly467Ser in primary sequence with 28 amino-acids signal peptide) Prolonged neuromuscular block after administration of suxamethonium
| Title : Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene - Wichmann_2016_Pharmacogenet.Genomics_26_351 |
| Author(s) : Wichmann S , Faerk G , Bundgaard JR , Gatke MR |
| Ref : Pharmacogenet Genomics , 26 :351 , 2016 |
| Abstract : |
| PubMedSearch : Wichmann_2016_Pharmacogenet.Genomics_26_351 |
| PubMedID: 27031121 |