Gene Locus : human-BCHE
Mode of mutation : Natural mutant
Disease :
Summary : Silent variant Natural mutation Silent phenotype Dey_1998_Ann.Clin.Biochem_35_302
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 : 453
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.E451X Glu451Ter (p.E479X Glu479Ter in primary sequence with 28 amino-acids signal peptide) Silent phenotype
| Title : Butyrylcholinesterase genes in individuals with abnormal inhibition numbers and with trace activity: one common mutation and two novel silent genes - Dey_1998_Ann.Clin.Biochem_35_302 |
| Author(s) : Dey DC , Maekawa M , Sudo K , Kanno T |
| Ref : Annals of Clinical Biochemistry , 35 :302 , 1998 |
| Abstract : Dey_1998_Ann.Clin.Biochem_35_302 |
| ESTHER : Dey_1998_Ann.Clin.Biochem_35_302 |
| PubMedSearch : Dey_1998_Ann.Clin.Biochem_35_302 |
| PubMedID: 9547905 |
| Gene_locus related to this paper: human-BCHE |