Table 4 of Zhang, Mol Vis 2010; 16:1353-1360. Table 4 of Zhang, Mol Vis 2010; 16:1353-1360.
Table 4. Summary of RP1 missense mutations identified in patients with retinitis pigmentosa.
| Mutation | cDNA | Study population | Diagnosis | Reference |
|---|---|---|---|---|
| p.T373I* | c.1118C>T | Pakistan | ARRP | [18] |
| p.K663N | c.1989G.>T | U.S.A. | ADRP | [16] |
| p.A669T | c.2005G>A | Pakistan | ARRP | [18] |
| p.D984G | c.2951A>G | Chinese | ADRP | [21] |
| p.N985Y | c.2954A>T | Chinese | ADRP | [39] |
| p.K1370E | c.4108A>G | Chinese | SRP | Present Study |
| p.R1652L | c.4955G>T | Chinese | SRP | Present Study |
| p.L1808P | c.5423T>C | U.S.A. | ADRP | [16] |