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