RPGR ORF15 mutations and associated phenotypes
| Family | ORF15 mutation* | ORF15 protein | RPGR mutation† | RPGR protein | Phenotype |
| A | c.507G>T‡ | p.E169stop | c.2260G>T | p.E754stop | CORD |
| B | c.867G>T‡ | p.G289stop | c.2620G>T | p.G874stop | RP and CORD |
| C | c.897G>T | p.E299stop | c.2650G>T | p.E884stop | RP |
| D | c.1558–1559insA‡ | p.S522fs525stop | c.3311–3312insA | p.S1107fs 1110stop | CORD |
*ORF15 reference sequence AF286471S2.
†RPGR reference sequence NM_001034853, +1 is A of “ATG.”
‡Novel mutation.
CORD, cone–rod dystrophy; RP, retinitis pigmentosa.