Table 2 of
García-García, Mol Vis 2013; 19:367-373. Table 2 of
García-García, Mol Vis 2013; 19:367-373.
Table 2. Pathogenic mutations identified in GPR98
| Exon | cDNA | Protein | Splice effect predicted | Reference |
|---|---|---|---|---|
| 31 | c.6932_6939dup | p.(Glu2314fs) | No | Novel |
| 49 | c.10301delT | p.(Leu3434fs) | No | Novel |
| IVS61 | c.12528–1G>T | p.(?) | Yes | Novel |
| IVS79 | c.17204+4_17204+7del | p.(?) | Yes | [12] |
| 80 | c.17368_17369delinsTTAT | p.(Ser5790fs) | No | Novel |
| 80 | c.17386C>T | p.(Gln5796*) | No | Novel |
| 86 | c.18261delA | p.(Gln6088fs) | No | Novel |