Table 3 of Abu-Amero, Mol Vis 2011; 17:667-672.


Table 3. VSX1 sequence changes observed in keratoconus patients and controls.

Nucleotide
change
Codon
change
Location on
the gene
Patients
(n=55)
Controls
(n=50)
g.5053 G>T p.S6S Exon 1 2 (3.6%) 2 (4%)
g.8222 A>G p.A182A Exon 3 1 (1.8%) 1 (2%)
g.8326 G>A Non-coding Intron 3 1 (1.8%) 5 (10%)
g.10945 G>T Non-coding 3′UTR 0 1 (2%)
g.11059 A>C Non-coding 3′UTR 1 (1.8%) 0