Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation salt bridge undergoes rapid degradation Mikami_2007_Pharmacogenet.Genomics_17_681Souza_2005_Mol.Genet.Metab_84_349 || Natural mutation salt bridge Souza_2005_Mol.Genet.Metab_84_349
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Natural mutation
Torpedo_number : 92
Kinetic Parameter : No kinetic parameter
News : MAY-03-2005
Comment :
p.E90D Glu90Asp c.270A>C GAA->GAC (p.E118D Glu118Asp in primary sequence with 28 amino-acids signal peptide). The glutamate of sedclyln involved in salt bridge.The mutant enzyme undergoes rapid degradation.
| Title : Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase - Mikami_2007_Pharmacogenet.Genomics_17_681 |
| Author(s) : Mikami LR , Wieseler S , de Souza RLR , Schopfer LM , Lockridge O , Chautard-Freire-Maia EA |
| Ref : Pharmacogenet Genomics , 17 :681 , 2007 |
| Abstract : |
| PubMedSearch : Mikami_2007_Pharmacogenet.Genomics_17_681 |
| PubMedID: 17700357 |
| Title : Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample - de Souza_2005_Mol.Genet.Metab_84_349 |
| Author(s) : de Souza RLR , Mikami LR , Maegawa RO , Chautard-Freire-Maia EA |
| Ref : Mol Genet Metab , 84 :349 , 2005 |
| Abstract : |
| PubMedSearch : de Souza_2005_Mol.Genet.Metab_84_349 |
| PubMedID: 15781196 |