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] |