Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation I3E4-14C Silent phenotype, splicing defect Gatke_2007_Pharmacogenet.Genomics_17_995 || Natural mutant Probably no effect Parmo-Folloni_2008_Chem.Biol.Interact_175_135
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 || Natural mutant
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : JUNE-18-2008
Comment : IVS3E4-14C I3E4-14C altered splicing between Intron 3 and exon 4, nt -14 at the acceptor site of intron 2, T>C found in cis with G115D(G143D) in a patient it is expected that this mutation does not alter splicing process
| Title : Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576) - Parmo-Folloni_2008_Chem.Biol.Interact_175_135 |
| Author(s) : Parmo-Folloni F , Nunes K , Lepienski LM , Mikami LR , de Souza RLR , Tsuneto LT , Petzl-Erler ML , Chautard-Freire-Maia EA |
| Ref : Chemico-Biological Interactions , 175 :135 , 2008 |
| Abstract : Parmo-Folloni_2008_Chem.Biol.Interact_175_135 |
| ESTHER : Parmo-Folloni_2008_Chem.Biol.Interact_175_135 |
| PubMedSearch : Parmo-Folloni_2008_Chem.Biol.Interact_175_135 |
| PubMedID: 18555211 |
| 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 |