Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype 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 : 128
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.H126CfsX2 His126CysfsTer2 (p.H126CfsX2 His126CysfsTer2 in primary sequence with 28 amino-acids signal peptide) H126frameshift 2-bp deletion (376delCA) CAT>T results in a truncated protein 2amino acids after frameshift lacking the active site and is therefore inactive. Found as heterozygote and compound heterozygote with G115D\/I3E4-14C
| 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 |