EC Number   |
Protein Variants |
Reference |
|---|
    2.7.8.15 | A263D |
mutation allows plasmid shuffling, indicating that the residue is not essential for activity |
645359 |
| 2.7.8.15 | D100A |
mutation of conserved amino acid in the putative cytoplasmic loop II, results in loss of function |
761051 |
| 2.7.8.15 | D252A |
mutation does not allow plasmid shuffling, indicating that the residues is essential for activity |
645359 |
| 2.7.8.15 | D252A/F254I |
mutation does not allow plasmid shuffling, indicating that the residues are essential for activity |
645359 |
| 2.7.8.15 | D252A/L102F |
mutation does not allow plasmid shuffling, indicating that the residues are essential for activity |
645359 |
| 2.7.8.15 | D39A |
mutation in cytoplasmic loop I, no effect on function |
-, 761051 |
| 2.7.8.15 | DELTA395-408 |
mutation fully eliminates enzyme expression in vivo |
645364 |
| 2.7.8.15 | DELTA398-408 |
removal of the last 11 amino acids 398-408 from the enzyme has no significant effect on the catalytic activity, thermal stability, tunicamycin binding, reticular localization, or consumption of cellular dolichol phosphate |
645364 |
| 2.7.8.15 | F110S |
naturally occuring mutation in gene DPAGT1, c.329T>C, patient with hypotonia, muscle weakness, hypoacusia, psychomotor retardation, the mutation affects splicing and enzyme protein |
760027 |
| 2.7.8.15 | F220A |
mutation of conserved amino acid in the putative cytoplasmic loops IV, results in loss of function |
-, 761051 |
