E460K_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Silent variant Natural mutation Silent variant ? heterozygous missense mutation GAG to AAG Yen_2003_Clin.Chem_49_1297

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant

Torpedo_number : 463

Kinetic Parameter : No kinetic parameter

News : OCTOBER-21-2004

Comment : p.E460K Glu460Lys (p.E488K Glu488Lys in primary sequence with 28 amino-acids signal peptide) Silent variant

References (1)

Title : Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population - Yen_2003_Clin.Chem_49_1297
Author(s) : Yen T , Nightingale BN , Burns JC , Sullivan DR , Stewart PM
Ref : Clinical Chemistry , 49 :1297 , 2003
Abstract : Yen_2003_Clin.Chem_49_1297
ESTHER : Yen_2003_Clin.Chem_49_1297
PubMedSearch : Yen_2003_Clin.Chem_49_1297
PubMedID: 12881446