Table 3 of Kumar, Mol Vis 2011; 17:693-707. Table 3 of Kumar, Mol Vis 2011; 17:693-707.
Table 3. Nucleotide variations found in congenital Cataract patients.
| Sample number |
Nucleotide change |
Locus |
Codon change |
Amino acid change |
Type of mutation |
PANTHER/SIFT score |
Frequency |
|---|---|---|---|---|---|---|---|
| 1 | rs11603779T>G^ | CRYAB | intronic | N/A | N/A | N/A | 13.33% |
| 2 | c.G181A* | CRYGC | CGT>CAT | R48H | NS | −2.72/1.00 | 13.33% |
| 3 | c.T564C^ | CRYGD | 3′UTR | N/A | N/A | N/A | 76.66% |
| 4 | c.A313G^ | CRYGD | AGA>AGG | R95R | SYN | N/A | 93.33% |
| 5 | c.C857T^ | GJA8 | CTC>CTT | L268L | SYN | N/A | 3.3% |
| 6 | c.T905C* | GJA8 | TTG>TCG | L281C | NS | −3.97/0.00 | 3.3% |