Table 2 of White, Mol Vis 2008; 14:2458-2465. Table 2 of White, Mol Vis 2008; 14:2458-2465.
Table 2. Sequence variants in STRA6 determined by direct sequencing.
Patient ID |
Exon 5 | Exon 8 | Exon 17 | Exon 18 |
|---|---|---|---|---|
| rs11857410 | Novel | rs736118 | Novel | |
| Coding synonymous | Coding non-synonymous | Coding non-synonymous | Nonsense-stop codon | |
| 1 | ||||
| 2 | ||||
| 3 | c.[331C>T ] +[331C>T ], p.L111L | c.[1581G>A]+[=], p.[527M>I]+[=] | ||
| 4 | ||||
| 5 | c.[331C>T ] +[=], p.L111L | |||
| 6 | ||||
| 7 | c.[1581G>A]+[=], p.[527M>I]+[=] | |||
| 8 | c.[331C>T ] +[331C>T ], p.L111L | |||
| 9 | ||||
| 10 | c.[331C>T ] +[=], p.L111L | |||
| 11 | *c.[650G>A]+[=], p.[217G>E]+[=] | *c.[1774C>T]+[=], p.[592Q>X]+[=] | ||
| 12 | c.[1581G>A]+[=], p.[527M>I]+[=] | |||
| 13 | c.[1581G>A]+[=], p.[527M>I]+[=] | |||
| 14 | c.[1581G>A]+[=], p.[527M>I]+[=] | |||
| 15 | ||||
| 16 | ||||
| 17 | c.[331C>T ] +[=], p.L111L | |||
| 18 | ||||
| Control 1 | c.[331C>T ] +[=], p.L111L | |||
| Control 2 | c.[331C>T ] +[=], p.L111L | |||
| Control 3 | ||||
| Control 4 | c.[331C>T ] +[=], p.L111L | c.[1581G>A]+[=], p.[527M>I]+[=] |