Gene Locus : human-BCHE
Mode of mutation : Site directed mutagenesis
Disease :
Summary : Minimal C-term determination gives inactive enzyme retained in the cell Blong_1997_Biochem.J_327_747
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Minimal C-term determination || Truncated
Torpedo_number : 525
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.T523X Thr523Ter (p.T551X Thr551Ter in primary sequence with 28 amino-acids signal peptide) Minimal C-term determination\;gives inactive enzyme retained in the cell
| Title : Tetramerization domain of human butyrylcholinesterase is at the C- terminus - Blong_1997_Biochem.J_327_747 |
| Author(s) : Blong RM , Bedows E , Lockridge O |
| Ref : Biochemical Journal , 327 :747 , 1997 |
| Abstract : |
| PubMedSearch : Blong_1997_Biochem.J_327_747 |
| PubMedID: 9581552 |