EC Number   |
Protein Variants |
Reference |
|---|
   3.1.1.47 | A379V |
nonsynonymous polymorphism |
691655 |
| 3.1.1.47 | C120S |
site-directed mutagenesis, residue is involved in transacetylase reaction mechanism, mutant shows 35% reduced transacetylase activity but unaltered acetylhydrolase activity |
652034 |
| 3.1.1.47 | D20N |
site-directed mutagenesis, mutant is not efficiently expressed |
653704 |
| 3.1.1.47 | D20R |
site-directed mutagenesis, mutant is not efficiently expressed |
653704 |
| 3.1.1.47 | G2A |
site-directed mutagenesis, residue is involved in transacetylase reaction mechanism, mutant shows 50% reduced transacetylase activity but unaltered acetylhydrolase activity |
652034 |
| 3.1.1.47 | G2A/C120S |
site-directed mutagenesis, residues are involved in transacetylase reaction mechanism, mutant shows 80% reduced transacetylase activity but unaltered acetylhydrolase activity |
652034 |
| 3.1.1.47 | H149R |
brain isoform I, beta subunit, mutant has no ability to associate with the catalytic alpha-complexes |
80957 |
| 3.1.1.47 | I198T |
nonsynonymous polymorphism |
691655 |
| 3.1.1.47 | I317N |
inactivating mutation |
691655 |
| 3.1.1.47 | I317N |
naturally occurring mutation, creation of a new N-linked glycosylation site, enzyme is not expressed in transfected COS-7 cells |
669702 |
