EC Number   |
Protein Variants |
Reference |
|---|
   3.1.11.7 | A198V |
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant |
752086 |
| 3.1.11.7 | A198V |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
| 3.1.11.7 | A198V/P206L |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
| 3.1.11.7 | D185E |
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX |
752086 |
| 3.1.11.7 | D185E |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
| 3.1.11.7 | D267G |
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant |
752086 |
| 3.1.11.7 | D267G |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
| 3.1.11.7 | D267G/W279X |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
| 3.1.11.7 | G231E |
naturally occuring mutation predicted to affect protein stability by destabilizing or truncating the folded core of APTX, catalytically inactive mutant |
752086 |
| 3.1.11.7 | G231E |
site-directed mutagenesis, a mutation causing the neurodegenerative disorder ataxia with oculomotor ataxia 1 (AOA1) |
750417 |
