Table 2 Summary of optineurin phenotypes resulting from forced expression of optineurin mutants and deletion fragments in RGC5 cells
From: Effects of mutations and deletions in the human optineurin gene
| Â | Foci formation | Golgi fragmentation | Transferrin uptake impairment | Apoptosis |
|---|---|---|---|---|
Wild type | Y | Y | Y | Y |
E5OK | Y | Y | Y | Y |
R96L | Y | Y | Y | Y |
L157A | N* | N | N | N |
D474N | N | N | N | N |
E478G | N | Y/N | Y/N | N |
1–55 | N | N | N | N |
1–148 | N** | N | Y | Y |
1–209 | N | N | N | N |
1–398 | N* | Y | Y | Y |
1–424 | N | Y/N | N | N |
210–424 | N | N | N | N |
217–398 | N | N | N | N |
217–577 | N* | Y/N | N | N |
425–577 | N* | N | N | N |