Table 3 of
Xiao, Mol Vis 2011; 17:3271-3278. Table 3 of
Xiao, Mol Vis 2011; 17:3271-3278.
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] |