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] |
Asterisk represents homozygote.