Table 1 of
Siemiatkowska, Mol Vis 2014; 20:753-759. Table 1 of
Siemiatkowska, Mol Vis 2014; 20:753-759.
Table 1. Mutations in NMNAT1 detected in LCA patients.
| Patient | Variants | Segregation |
|---|---|---|
| 1 | c.53A>G (p.N18S)/c.472G>C (p.D158H) | n.d. |
| 2 | c.769G>A (p.E257K)/c.253T>C (p.W85R) | n.d. |
| 3.1 | c.769G>A (p.E257K)/c.617A>G (p.H206A) | yes |
| 3.2 | c.769G>A (p.E257K)/c.617A>G (p.H206A) | |
| 4 | c.769G>A (p.E257K)/c.595G>T (p.E199*) | yes |
| 5 | c.769G>A (p.E257K)/c.731T>C (p.V244A) | yes |
| 6 | c.769G>A (p.E257K)/c.619C>T (p.R207W) | yes |