Table 1 of
Eidinger, Mol Vis 2015; 21:1295-1306. Table 1 of
Eidinger, Mol Vis 2015; 21:1295-1306.
Table 1. PROM1 Mutations identified in patients with inherited retinal dystrophies,
| Exon / Intron | Base Change | Amino Acid Substitution | Phenotype | Reference |
|---|---|---|---|---|
| Recessive Mutations | ||||
| Exon 4 | c.442A>T | p.K148X | arRP | [18] |
| Exon 5 | c.622delA | p.T208Lfs22X | arRP | [19] |
| Exon 6 | c.642T>A | p.Y214X | arRP | [20] |
| Exon 7 | c.730C>T | p.R244X | arCRD | [21] |
| Exon 8 | c.869delG | p.S290IfsX | arRP with macular degeneration | [22] |
| Intron 10 | c.1142–1G>A | arCRD | [7] | |
| Exon 11 | c.1157T>A | p.L386X | arCRD | [23] |
| Exon 11 | c.1209–1229del | p.Q403-S410del;insH | arRP | [20] |
| Exon 12 | c.1349insT | p.Y452Ffs38X | arCRD | [9] |
| Exon 12 | c.1355_1356insT | p.Y453Lfs11X | arRP | [19] |
| Intron 12 | c.1454+2T>C | arCRD | [24] | |
| Intron 13 | c.1579–1G>C | arCRD | [24] | |
| Exon 15 | c.1697dupA | p.N566KfsX | arCRD | [25] |
| Exon 15 | c.1726C>T | p.Q576X | arRP with macular degeneration | [26] |
| Exon 16 | c.1841delG | p.G614Efs12X | arRP with macular degeneration | [8] |
| Intron 17 | c.1983+1G>T | arCRD | [21] | |
| Intron 17 | c.1984–1G>T | arCRD | [24] | |
| Intron 18 | c.2077–521A>G | arCRD | [17] | |
| Intron 21 | c.2281–26_-17del | p.I761-L791del | arCRD | Current study |
| Exon 23 | c.2383T>C | p.W795R | arCRD | [24] |
| Dominant Mutations | ||||
| Exon 1 | c.7dup | p.L3Pfs28X | adCRD | [24] |
| Exon 10 | c.1117C>T | p.R373C | ad Stargardt-like MD, ad bull's-eye MD, adCRD | [6] |