Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent variant heterozygous compound with N106KfsX22 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 : 426
Kinetic Parameter : No kinetic parameter
News : OCTOBER-21-2004
Comment : p.R424X Arg424Ter (p.R452X Arg452Ter in primary sequence with 28 amino-acids signal peptide) Silent variant heterozygous compound with N106KfsX22
| 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 |