Table 3 of
Skorczyk, Mol Vis 2012; 18:3004-3012. Table 3 of
Skorczyk, Mol Vis 2012; 18:3004-3012.
Table 3. Identified RS1 gene mutations
| Mutation | Type of mutation | Effect of mutation | Localization | Number of patients | References |
|---|---|---|---|---|---|
| c.176G>C | missense | p.Cys59Ser | exon 3 | 2 | this study |
| c. 214G>A | missense | p.Glu72Lys | exon 4 | 1 | [7,17,18] |
| c.218C>A | nonsense | p.Ser73* | exon 4 | 3 | this study |
| c.354_355delCA | frameshift | p.Asp118Glufs*2 | exon 5 | 1 | this study |
| c.451T>A | missense | p.Tyr151Asp | exon 5 | 1 | this study |
| c.522+1G>T | splice site | abnormal splicing | intron 5 | 1 | 2 |
| c.626G>T | missense | p.Arg209Leu | exon 6 | 1 | LOVD |