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