Table 4 of Sheng, Mol Vis 2010; 16:1620-1628. Table 4 of Sheng, Mol Vis 2010; 16:1620-1628.
Table 4. Sequence variations detected in the exon ORF15 of RPGR gene among Chinese RP patients and control subjects
| Variation frequency | |||||||
|---|---|---|---|---|---|---|---|
Location |
Nucleotide change |
Residual change |
Description |
Patients n=8 |
Carriers n=14 |
Normal n=55 |
Controls n=80 |
| ORF15 | g.ORF15+1677A>G (c.3430A>G) | p.I559V (p.I1144V) | rs12688514 | 4 | 6 | 22 | 36 |
| ORF15 | g.ORF15+1643T>C (c.3396T>C) | p.N547N (p.N1132N) | rs12687163 | 3 | 5 | 16 | 32 |
| ORF15 | g.ORF15+577_578delAG (c.2330_2331 delAG) | Lys192fsTer248 (p.Lys777fsTer833) | Novel | 8 | 14 | 0 | 0 |