Table 3 of Tanwar, Mol Vis 2010; 16:2395-2401. Table 3 of Tanwar, Mol Vis 2010; 16:2395-2401.
Table 3. VSX1 sequence variants observed in this study.
| Nucleotide Change |
VSX1 transcript ID |
Protein alteration |
Exon/UTR/ intron |
Patients (n=50) |
Controls (n=50) |
Reference/ SNP ID |
Polyphen/SIFT prediction |
|---|---|---|---|---|---|---|---|
| g.25059546A>G (rs12480307) | NM_014588 | p.A182A | Exon 3 | 25/50 | 29/50 | [20] | – |
| g.25059442G>A (rs6138482) | NM_0199425 | p.R217H | Exon 3 | 1/50 | Absent | [20] | Non-pathogenic |
| g.25059381T>A (rs56157240) | NM_0199425 | p.P237P | Exon 3 | 18/50 | 14/50 | [20] | – |
| g.25059612C>T | – | – | Intron 2 | 3/50 | Absent | Novel | – |