Table 3. Reported GUCY2D mutations associated with cone or cone-rod dystrophy.
| No. | Nucleotide change | Residue change | Families | Phenotypes | References |
|---|---|---|---|---|---|
| 1 |
Unclear |
P575L |
1 |
adCOD* |
[17] |
| 2 |
2511_2512delGCinsCA |
[Glu837Asp,Arg838Ser] |
1 |
adCORD |
[10,21] |
| 3 |
2511_2516delGCGCACinsCTGCAT |
[Glu837Asp,Arg838Cys,Thr839Met] |
1 |
adCORD |
[22] |
| 4 |
2512C>T |
Arg838Cys |
16 |
11/adCORD |
[9,10,18,21,23–25] |
| |
|
|
|
5/adCOD |
[9] |
| 5 |
2512C>G |
Arg838Gly |
1 |
adCORD |
[9] |
| 6 |
2513G>A |
Arg838His |
9 |
5/adCORD |
[21,24–27] |
| |
|
|
|
4/adCOD |
[9,16] |
| 7 |
2513G>C |
Arg838Pro |
1 |
1/adCORD |
[27] |
| 8 |
2846T>C |
Ile949Thr |
1 |
arCORD |
[28] |
| 9 |
2540_2542delAGAinsTCC |
[Gln847Leu,Lys848Gln] |
1 |
adCORD |
[29] |
| 10 | 2744_2749delTCATTGinsCCATTC | [I915T,G917R] | 1 | adCORD | [24] |