Table 2 of
Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735. Table 2 of
Khordadpoor-Deilamani, Mol Vis 2015; 21:730-735.
Table 2. TYR mutations and polymorphisms (p.S192Y and p.R402Q) in 23 OCA / OA Iranian patients.
| #P | Clinical diagnosis | Female/Male | Proband | Type of OCA | Consanguinity | |||
|---|---|---|---|---|---|---|---|---|
| Mutation 1 | Mutation 2 | Polymorphisms | ||||||
| p.S192Y | p.R402Q | |||||||
| 1 | OCA | F | c.286dupA | c.286dupA | - | - | OCA1A | + |
| 2 | OCA | F | p.P406L (Maternal) | - | - | - | ND | + |
| 3 | OA | F | - | - | - | Hetero (Maternal) | ND | + |
| 4 | OCA | F | - | - | Hetero (Maternal) | Hetero (Paternal) | ND | + |
| 5 | OCA | M | p.M332I | p.M332I | - | - | OCA1B | + |
| 6 | OCA | M | - | - | Hetero | - | ND | + |
| 7 | OCA | F | p.M332I | p.M332I | - | - | OCA1B | + |
| 8 | OCA | F | - | - | - | Homo | ND | + |
| 9 | OCA | M | p.R239W (Paternal) | p.M332I (Maternal) | - | - | ND | ND |
| 10 | OCA | F | - | - | - | - | ND | + |
| 11 | OCA | M | c.286dupA | c.286dupA | - | - | OCA1A | + |
| 12 | OCA | F | - | - | - | - | ND | + |
| 13 | OCA | F | c.286dupA | c.286dupA | - | - | OCA1A | + |
| 14 | OCA | M | p.R77Q | p.R77Q | - | Homo | OCA1A | + |
| 15 | OCA | F | p.G47S (Paternal) | c.del1276–82 (Maternal) | Hetero | Hetero (Paternal) | OCA1A | + |
| 16 | OCA | F | p.P21S | p.P21S | - | - | OCA1A | + |
| 17 | OCA | M | p.R77Q | p.R77Q | - | Homo | OCA1A | + |
| 18 | OCA | M | p.G419R | p.G419R | - | - | OCA1A | + |
| 19 | OCA | F | p.P301L | p.P301L | - | - | OCA1A | + |
| 20 | OCA | M | - | - | Hetero | - | ND | ND |
| 21 | OCA | F | c.286dupA | c.286dupA | - | - | OCA1A | + |
| 22 | OCA | F | - | - | Homo | - | ND | + |
| 23 | OA | F | - | - | - | - | ND | + |