Table 3 of
Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735. Table 3 of
Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735.
Table 3. The frequency of the 10 mutations and the p.R402Q and p.S192Y polymorphisms in our 23 albinism patients.
| Nucleotide change | Amino acid change | Exon No. | Status (Number of the patients) | Frequency percentage |
|---|---|---|---|---|
| c.286dupA | Frameshift | Ex 1 | Homo (4) | 17.39 |
| c.61C>T | p.P21S | Ex 1 | Homo (1) | 4.34 |
| c.139G>A | p.G47S | Ex 1 | Hetero (1) | 2.17 |
| c.230G>A | p.R77Q | Ex 1 | Homo (2) | 8.69 |
| c.715C>T | p.R239W | Ex 1 | Hetero (1) | 2.17 |
| c.902C>T | p.P301L | Ex 2 | Homo (1) | 4.34 |
| c.0996G>A | p.M332I | Ex 2 | Homo (2), Hetero (1) | 10.86 |
| c.1217C>T | p.P406L | Ex 4 | Hetero (1) | 2.17 |
| c.1255G>A | p.G419R | Ex 4 | Homo (1) | 4.34 |
| c.del1276–82 | Frameshift | Ex 4 | Hetero (1) | 2.17 |
| c.575C>A | p.S192Y | Ex 1 | Homo (1), Hetero (4) | 13.04 |
| c.1205G>A | p.R402Q | Ex 4 | Homo (3), Hetero (3) | 19.56 |