Table 2 of
Gu, Mol Vis 2016; 22:646-657. Table 2 of
Gu, Mol Vis 2016; 22:646-657.
Table 2. Characteristics of identified EYS mutations.
| Family ID | Disease | Variation | Exon /Intron | Bioinformatics Analysis | HGMD/ Novel | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic position | Nucleotide | Amino Acid | Type | Status | SIFT | PolyPhen-2 | PROVEN | ||||
| ARRP07 | RPSP | 6: 64,791,763 | c.6557G>A | p.G2186E | missense | Hom | E32 | DA (0.03) | PD (0.68) | DE (−2.62) | CM103598 |
| ARRP08 | RP | 6: 65,300,667 | c.5093T>C | p.I1698T | missense | Het | E26 | DA (0) | B (0.082) | N (−0.87) | VUS |
| 6: 64,430,679 | c.9248G>A | p.G3083D | missense | Het | E43 | DA (0.02) | DA (0.979) | N (−2.1) | Novel | ||
| 6: 64,940,493 | c.6416G>A | p.C2139Y | missense | Het | E31 | DA (0) | PD (0.797) | DE (−4.56) | CM102730 | ||
| ARRP09 | RPSP | 6: 64,791,763 | c.6557G>A | p.G2186E | missense | Het | E32 | DA (0.03) | PD (0.68) | DE (−2.62) | CM103598 |
| 6: 64,574,078 | c.7228+1 G>A | p.A2410Gfs*4 | splice site | Het | I36–37 | NA | NA | NA | Novel | ||
| ARRP10 | RP | 6: 64,574,078 | c.7228+1 G>A | p.A2410Gfs*4 | splice site | Het | I36–37 | NA | NA | NA | Novel |
| 6: 65,300,802 | c.4957dupA | p.S1653Kfs*2 | frameshift | Het | E26 | NA | NA | NA | Novel | ||