Table 1.
RPGR Mutations of All Study Patients and Their Predicted Effects on Protein Translation
| Exon | Genetic Mutation (Based on Accession Number NM_001034853.1) | Effect |
|---|---|---|
| Exons 1–14 | Exon 6–11 deletion* | Premature termination |
| Exon 7 deletion* | Premature termination | |
| c.799G>A | Missense mutation | |
| c.836_934+1276del | Exon/intron 8 splice site | |
| c.880delG* | Premature termination | |
| c.891_892delAA | Premature termination | |
| c.914dupA* | Premature termination | |
| c.1234C>T | Premature termination | |
| c.1243_1244delAG* | Premature termination | |
| c.1387C>T* | Premature termination | |
| c.1429G>T* | Premature termination | |
| c.1572+1G>A | Exon/intron 13 splice site | |
| ORF 15 | c.2045_2046dupGT* | Premature termination |
| c.2238delA* | Premature termination | |
| c.2245G>T | Premature termination | |
| c.2384delA | Premature termination | |
| c.2405_2406delAG | Premature termination | |
| c.2476_2477delAG | Premature termination | |
| c.2586_2587delGG | Premature termination | |
| c.2601_2602delGG | Premature termination | |
| c.2625dupA | Premature termination | |
| c.2907_2910delAGGA | Premature termination | |
| c.2993_2997delAAGGG | Premature termination |
ORF = open reading frame.
Novel mutations are indicated by an asterisk.