TABLE 3.
Sequence Variants Identified in GCAP1 Gene
| Protein | Nucleotide | Patient | Diagnosis |
|---|---|---|---|
| None | c.-26A>G | 065-001 | Achromatopsia |
| T114I | c.341C>T | 199-005 | Atypical RP |
| I143NT | c.428delTinsACAC | 195-001 | Cone degeneration |
| None | g.IVS3+171delG | 065-011* | Achromatopsia |
| D189D | c.577C>T | 111-007 | Achromatopsia |
| D189D | c.577C>T | 270-003 | Macular degeneration |
*
This patient was later shown to be a homozygote with the pathogenic mutation T383fs in the CNGB3 gene encoding β-subunit of the cone cGMP-gated channel (data not shown).