Table 2
Variants of crystallin genes detected in cataract families
| Gene | Exon/intron | Position* | Base change | Expected effect on protein | Segregation with cataract phenotype |
|---|---|---|---|---|---|
| *Intron position numbers refer to the number of nucleotides past the 3′ end of the exon. | |||||
| †This variant is likely to be in the presumed pseudogene CRYBB2–2, rather than CRYBB2. | |||||
| CRYBA1/A3 | Intron 3 | +1 | G/A | Splice Site | Yes |
| CRYBA1/A3 | Exon 5 | Codon 152 | C/T | None (Gly) | No |
| CRYBA1/A3 | Intron 2 | +73 | T/G | None | No |
| CRYBA1/A3 | Intron 3 | +16 | C/T | None | No |
| CRYBB2† | Intron 3 | +1 | G/A | Splice site | No |
| CRYGD | Exon 2 | Codon 16 | C/T | None (Tyr) | No |
| CRYGD | Exon 2 | Codon 23 | C/A | Pro/Thr | Yes |
