Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Silent variant On-Kei Chan_2005_Clin.Chim.Acta_351_155
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis
Modification : Silent variant Natural mutation || Natural mutation
Torpedo_number : 476
Kinetic Parameter : No kinetic parameter
News : MAY-03-2005
Comment : p.F474L Phe474Leu (p.F502L Phe502Leu in primary sequence with 28 amino-acids signal peptide) Silent variant
| Title : Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity - On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| Author(s) : On-Kei Chan A , Lam CW , Tong SF , Man Tung C , Yung K , Chan YW , Au KM , Yuen YP , Hung CT , Ng KP , Shek CC |
| Ref : Clinica Chimica Acta , 351 :155 , 2005 |
| Abstract : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| ESTHER : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| PubMedSearch : On-Kei Chan_2005_Clin.Chim.Acta_351_155 |
| PubMedID: 15563885 |