EC Number   |
Protein Variants |
Reference |
|---|
   3.1.4.45 | C115X |
site-directed mutagenesis, the mutation greatly impairs folding of the enzyme, the mutant is retained in the endoplasmic reticulum |
730014 |
| 3.1.4.45 | C132X |
site-directed mutagenesis, the mutation greatly impairs folding of the enzyme, the mutant is retained in the endoplasmic reticulum |
730014 |
| 3.1.4.45 | C221L |
site-directed mutagenesis, the mutation leads to loss of enzymatic activity |
730014 |
| 3.1.4.45 | C51M |
site-directed mutagenesis, the mutant shows 65% of wild-type activity |
730014 |
| 3.1.4.45 | C51M/C221L |
site-directed mutagenesis, the mutant folds adequately and is trafficked to the Golgi where it is cleaved by furin, the mutant shows only 9.7% of wild-type activity |
730014 |
| 3.1.4.45 | E502stop |
similar localization to the trans Golgi network as the wild-type, lumenal domain of UCE was replaced with monomeric GFP |
675005 |
| 3.1.4.45 | F513S |
naturally occuring Phe513SerfsX113 frameshift mutation that adds 113 amino acids to the C-terminus of the cytoplasmic tail of the protein including a VWLL sequence, causing rapid degradation via the proteasomal system |
715644 |
| 3.1.4.45 | H510stop |
mutant of the cytosolic tail disrupting the NPF endocytosis motif |
653178 |
| 3.1.4.45 | H510stop |
mutant with 7% of total enzyme activity on the cell surface at steady state compared with 1-3% of wild-type activity, kinetics of internalization |
652305 |
| 3.1.4.45 | H84Q |
naturally occuring mutation that impairs folding and in addition, decreases the specific activity of the enzyme, to about half the relative specific activity of wild-type enzyme, but folds sufficiently to traffic to the Golgi |
715644 |
