Table 4 of Kim, Mol Vis 2009; 15:833-843. Table 4 of Kim, Mol Vis 2009; 15:833-843.
Table 4. Mutations and polymorphisms identified in the Korean XLRS patients
| Nucleotide change |
Location |
Effect
of change |
Case |
Previous report |
|---|---|---|---|---|
| c.78+1G>T | Intron 2 | Splicing mutation | Case 4 | Novel mutation |
| c.78+5G>A | Intron 2 | Splicing mutation | Case 8 | Novel mutation |
| c.184+35T>C | Intron 3 | Polymorphism | Case 12, 14 | Leiden open variation database for RS1 |
| c.184+129T>G | Intron 3 | Polymorphism | Case 12, 14 | Novel variant |
| c.214G>A | Exon 4 | p.E72K | Case 9, 16 | [11] |
| c.214G>C | Exon 4 | p.E72Q | Case 15 | [36] |
| c.227T>G | Exon 4 | p.V76G | Case 6 | Novel missense mutation |
| c.305G>A | Exon 4 | p.R102Q | Case 7 | [11] |
| c.426T>G | Exon 5 | p.C142W | Case 3 | [37] |
| c.544C>T | Exon 6 | p.R182C | Case 12, 14 | [11] |
| c.589C>T | Exon 6 | p.R197C | Case 2 | [11] |
| c.590G>A | Exon 6 | p.R197H | Case 1 | [11] |
| c.625C>T | Exon 6 | p.R209C | Case 11 | [11] |
| c.637C>T | Exon 6 | p.R213W | Case 17 | [11] |
| c.638G>A | Exon 6 | p.R213Q | Case 10 | [15] |
| c.647T>C | Exon 6 | p.L216P | Case 5 | [11] |