Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Succinylcholine hydrolysis Natural mutation hypocholinesterasemia heterozygous missense mutation AAT to TAT, N in SEDLYLN 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 : 98
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment :
p.N96Y Asn96Tyr (p.N114Y Asn114Tyr in primary sequence with 28 amino-acids signal peptide) hypocholinesterasemia heterozygous missense mutation AAT to TAT, N in SEDLYLN
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 : |
PubMedSearch : Yen_2003_Clin.Chem_49_1297 |
PubMedID: 12881446 |