G333C_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation Mikami_2008_Pharmacogenet.Genomics_18_213

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 : 335

Kinetic Parameter : No kinetic parameter

News : FEBRUARY-29-2008

Comment :
p.G333C Gly333Cys c.997G>T (p.V322M Val322Met in primary sequence with 28 amino-acids signal peptide) G333C leads to a decrease of about 80\% in relation to the wild-type enzyme, low kcat

References (1)

Title : Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population - Mikami_2008_Pharmacogenet.Genomics_18_213
Author(s) : Mikami LR , Wieseler S , de Souza RLR , Schopfer LM , Nachon F , Lockridge O , Chautard-Freire-Maia EA
Ref : Pharmacogenet Genomics , 18 :213 , 2008
Abstract :
PubMedSearch : Mikami_2008_Pharmacogenet.Genomics_18_213
PubMedID: 18300943