EC Number   |
Protein Variants |
Reference |
|---|
   3.4.11.22 | E354Q |
inactive, Zn2+ binding site disrupted |
717825 |
| 3.4.11.22 | K528R |
less efficient in peptide processing suggesting a defect in the catalytic process, also a naturally occuring mutation associated with reduced ankylosing spondylitis risk |
718329 |
| 3.4.11.22 | K528R |
single nucelotide polymorphism, about 50% of wild-type activtiy with fluorogenic substrate L-leucine-7-amido-4-methylcoumarin. Mutation of position 528 does not appear to affect length selection, but rather affects enzyme activity in a uniform manner |
754749 |
| 3.4.11.22 | K528R/Q730E |
combination of single nucleotide polymorphisms, activity similar to wild-type. The effects of mutations K528R and Q730E are independent and additive |
754749 |
| 3.4.11.22 | more |
a mutant enzyme is defective in autophagocytosis and vacuole biogenesis |
665106 |
| 3.4.11.22 | more |
generation of ERAAP-deficient mutant mice of strain 129/J by gene excision, the mutants show reduced and altered MHC class I molecules |
666422 |
| 3.4.11.22 | more |
generation of ERAP1-knockout mice, which show a shift in the hierarchy of immunodominance in viral infections, even when the responding T-cells have the same T-cell receptor repertoire, mutant immunodominance hierarchy: GP276, NP396, GP33, GP34, GP118, NP205, CD8+ T-cell responses to viral epitopes are altered in transgenic mice, overview |
666760 |
| 3.4.11.22 | more |
isolation and/or construction of mutant enzymes defective in autophagocytosis and vacuole biogenesis, the mutant enzyme accumulates in the Cvt vesicles of the secretory pathway in non-native conformation, overview |
665476 |
| 3.4.11.22 | Q181E |
different substrate specificity, cleaves basic amino acid residues preferentially |
717825 |
| 3.4.11.22 | Q730E |
single nucelotide polymorphism, about 2000% of wild-type activtiy with fluorogenic substrate L-leucine-7-amido-4-methylcoumarin. Mutation at position 730 leads to an increased preference for smaller peptides |
754749 |
