E90D_human-BCHE

General

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.

References (2)

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