Table 1.
Summary of solubilization and secretion behaviors reported for select mutant myocilins of relevance to the current study.
| Mutation | Glaucoma phenotype | In vitro solubilization (56) | Secretion from 37°C culture HEK293 (12)/HTM (13) | Secretion from 30°C culture HEK293 (12)/HTM (13) | ER retention (10, 19) |
|---|---|---|---|---|---|
| D380A | Mild | + | +/− | +/+ | n.d. |
| I477S | Moderate | − | −/n.d. | +/n.d. | n.d. |
| I477N | Severe | − | −/− | +/− | + |
| K423E | Severe | − | −/− | −/− | + |
(+) Positive measurement for solubilization, secretion or ER retention, as indicated by column heading, (−) Negative measurement for respective measurements, (n.d.) measurement not determined.