Table 3 of
Yang, Mol Vis 2011; 17:2065-2071. Table 3 of
Yang, Mol Vis 2011; 17:2065-2071.
Table 3. Summary of mutations in CRYBA1/A3 responsible for congenital cataract.
| Exon | Nucleotide | Amino acid | Phenotype | Reference |
|---|---|---|---|---|
| IVS3 | IVS3+1G>A | Splice site mutation | Zonular cataract with sutural opacity | [21] |
| IVS3 | IVS3+1G>A | Splice site mutation | Zonular lamellar cataract | [22] |
| IVS3 | IVS3+1G>A | Splice site mutation | Y-sutural,mild nucleus and cortical dot cataract | [15] |
| IVS3 | IVS3+1G>A | Splice site mutation | Posterior polar cataract | [23] |
| IVS3 | IVS3+1G>A | Splice site mutation | Progressive childhood nucleus and peripheral cortex cataract | [18] |
| IVS3 | IVS3+1G>C | Splice site mutation | Pulverulent, star-shaped, shieldlike and radial cataract | [16] |
| EX4 | 278–280delGGA | P.91Glydel | Nuclear cataract | [24] |
| EX4 | 279–281delGGA276–278delGGA | P.91Glydel P.91Glydel | Pulverulent congenital cataracts | [25] |
| EX4 | 279–281delGGA | P.91Glydel | Congenital nuclear cataract | [26] |