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 | ||
Abbreviations: RPSP: retinitis pigmentosa sino pigmento; RP: retinitis pigmentosa; Hom: homozygous; Het: heterozygous; DA: damaging; NA: not available; PD: probably damaging; B: benign; DE: deleterious; N: neutral; HGMD: the Human Gene Mutation Database; VUS: variant of unknown significance.