Table 2. Mutations identified in the present study.
|
Gene |
Amino acid |
Nucleotide |
Proband (336) |
Control (360) |
PolyPhen-2 |
SIFT |
Reference |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Hetero | Homo | Frequency | Hetero | Homo | Frequency | ||||||
| PRPF3 |
p.T494M |
c.1481C>T |
1 |
0 |
0.001 |
0 |
0 |
0 |
prob/prob |
Damaging |
[17,38] |
| RHO |
p.T17M |
c.50C>T |
1 |
0 |
0.001 |
0 |
0 |
0 |
prob/poss |
*Damaging |
[18,39] |
| p.R135W |
c.403C>T |
1 |
0 |
0.001 |
0 |
0 |
0 |
prob/prob |
*Damaging |
[19,20] |
|
| p.D190N |
c.568G>A |
1 |
0 |
0.001 |
0 |
0 |
0 |
poss/poss |
*Damaging |
[21] |
|
| p.K296N |
c.888G>T |
1 |
0 |
0.001 |
0 |
0 |
0 |
prob/prob |
*Damaging |
[18,24] |
|
| p.P347L |
c.1040C>T |
2 |
0 |
0.003 |
0 |
0 |
0 |
poss/benign |
*Damaging |
[18,40] |
|
| PDE6B |
p.H557Y |
c.1669C>T |
9 |
4 |
0.025 |
2 |
0 |
0.003 |
prob/prob |
Damaging |
[20,22] |
| p.T604I |
c.1811C>T |
4 |
0 |
0.006 |
3 |
0 |
0.004 |
prob/prob |
Damaging |
[20] |
|
| PRPH2 |
p.W316G |
c.946T>G |
1 |
0 |
0.001 |
1 |
0 |
0.001 |
benign/benign |
Damaging |
[20] |
| RP1 |
p.G706R |
c.2116G>C |
1 |
0 |
0.001 |
1 |
0 |
0.001 |
benign/benign |
Tolerated |
[25] |
| p.D984G |
c.2951A>G |
1 |
0 |
0.001 |
0 |
0 |
0 |
poss/benign |
Tolerated |
[23] |
|
| CRX | p.G122D | c.365G>A | 3 | 0 | 0.004 | 3 | 0 | 0.004 | benign/benign | Tolerated | [20,24] |
Prediction by PolyPhen2 was performed using both HumDiv and HumVar data sets. *Damaging, low confidence predictions with Median conservation above 3.25. Hetero, heterozygous mutation; Homo, homozygous mutation; prob, probably damaging; poss, possibly damaging.