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 |
*Patients previous described [16]; # familial case; § novel mutation.