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 : 14
Kinetic Parameter : No kinetic parameter
News : FEBRUARY-29-2008
Comment :
p.K12R Lys12Arg c.35G>A (p.K40R Lys40Arg in primary sequence with 28 amino-acids signal peptide) no change in BCHE activity. Lysine not conserved in other species found in heterozygote from Brazilian population
| 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 |