F28I_human-BCHE

General

Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Succinylcholine hydrolysis\;Natural mutation Succinylcholine hydrolysis heterozygous missense mutation compound with heterozygous for dibucaine and K variant\;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 : Succinylcholine hydrolysis

Torpedo_number : 30

Kinetic Parameter : No kinetic parameter

News : OCTOBER-21-2004

Comment : p.F28I Phe28Ile (p.F56I Phe56Ile in primary sequence with 28 amino-acids signal peptide) compound heterozygous for dibucaine and K 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