Table 1 of
Abidi, Mol Vis 2011; 17:3541-3547. Table 1 of
Abidi, Mol Vis 2011; 17:3541-3547.
Table 1. RB1 germline mutations identified in Moroccan patients with retinoblastoma
| Patient | g-positiona | cDNA changeb | Protein | Location | Laterality | Occurrencesc |
|---|---|---|---|---|---|---|
| RB3 | g.153347A>T | c.1954A>T | p.Lys652X | Exon 19 | Bilateral | Yes (1) |
| RB4 | g.39552_39553delTA | c.371_372delTA | p.Ile124ArgfsX5 | Exon 3 | Bilateral | Yes (3) |
| RB5 | g.162237C>T | c.2359C>T | p.Arg787X | Exon 23 | Bilateral | Yes (62) |
| RB14 | g.153332_153333delCT | c.1939_1940delCT | p.Lys647PhefsX4 | Exon 19 | Bilateral | Yes (4) |
| RB16 | g.56885delA | c.640delA | p.Ile214PhefsX4 | Exon 7 | Bilateral | No |
| RB19 | g.153346T>G | c.1953T>G | p.Tyr651>X | Exon 19 | Bilateral | No |
| RB20, RB21 | g.59649A>G | c.719–2A>G | Altered splicing | Intron 7 | unilateral | No |
| RB26 | g.78238C>T | c.1654C>T | p.Arg552X | Exon 17 | Bilateral | Yes (63) |
| RB37 | g.76460C>T | c.1363C>T | p.Arg455X | Exon 14 | Bilateral | Yes (53) |
| RB39 | g.65386C>T | c.1072C>T | p.Arg358X | Exon 11 | Bilateral | Yes (60) |