Table 2.
Characterization of the disease-causing CHM variants found in the choroideremia carriers.
| Patient ID | Nucleotide Change | Amino Acid Change | Reported in Females | Reported in Males | MutationTaster Prediction16 | CADD15 |
|---|---|---|---|---|---|---|
| 1 | c.715C>T | p.Arg239* | Yes24 | Yes25 | Disease causing (1.0) | 37.0 |
| 2 | c.101T>A | p.Val34Asp | No | No | Disease causing (0.99) | 26.8 |
| 3 | c.757C>T | p.Arg253* | No | Yes18 | Disease causing (1.0) | 36.0 |
| 4 | c.173G>A | p.Trp58* | No | Yes25 | Disease causing (1.0) | 35.0 |
| 5 | c.49+1G>A | NA | No | Yes19 | Disease causing (1.0) | 33.0 |
| 6 | c.1584_157 delTGTT | p.Val529Hisfs*7 | Yes26 | Yes27 | n/a | n/a |
| 7 | c.1359C>T | p.Ser453Ser | Yes28 | Yes28 | Disease causing (0.99) | 13.62 |
| 8 | c.189G>C | p.Gln63His | No | No | Disease causing (0.99) | 22.2 |
| 9 | c.1349G>T | p.Arg450Met | No | No | Disease causing (0.99) | 24.6 |
| 10 | c.940G>A | p.Gly314Arg | No | No | Disease causing (1.0) | 23.5 |
| 11 | c.1584_157 delTGTT | p.Val529Hisfs*7 | Yes26 | Yes27 | n/a | n/a |
| 12 | c.1414_1510del | p.Ser473Trpfs*4 | No | No | n/a | n/a |
CADD = combined annotation dependent depletion; n/a = not applicable.