Table 4 of
De Bonis, Mol Vis 2011; 17:2482-2494. Table 4 of
De Bonis, Mol Vis 2011; 17:2482-2494.
Table 4. Mutational analysis of VSX1, SPARC, and SOD1 in 302 subjects affected by keratoconus.
| Gene | Patient ID | Nucleotide change | Protein alteration | Controls |
|---|---|---|---|---|
| VSX1 | K33*, K74*, K75*, K124, K295# | c.50T>C | p.L17P | 0/200 |
| K5*, K66*, K96, K161, K305 | c.432C>G | p.D144E | 1/200 | |
| K35*, K74*, K179 | c.479G>A | p.G160D | 0/200 | |
| K264 | c.715G>C | p.G239R§ | 0/200 | |
| K14*#, K120, K249, K361 | c.740_741CG>GA c.740C>G | p.P247R | 0/200 | |
| SPARC | K15# | c.187G>A | p.E63K | 0/200 |
| K34 | c.276G>A | p.M92I | 0/200 | |
| K43 | c.657C>A | p.D219E | 0/200 | |
| K66 | c.747C>T | p.H249H | 0/200 | |
| K166 | c.732C>T | p.D244D | 0/200 | |
| K188 | c.204G>A | p.A68A | 0/200 | |
| SOD1 | K151 | c.169+50delTAAACAG | - | 0/200 |
| K283 | c.169+50delTAAACAG | - | 0/200 |