Table 5 of Williams, Mol Vis 2010; 16:705-712. Table 5 of Williams, Mol Vis 2010; 16:705-712.
Table 5. List of coding variants identified from LOXL1 exon sequencing in South African black individuals with primary open-angle glaucoma.
Location |
Nucleotide sequence change* |
Amino acid change |
SNP ID |
Allele |
Allele Frequency Controls (N) |
Allele Frequency POAG (N) |
p value |
|---|---|---|---|---|---|---|---|
| Exon 1 | c.727G>T | R141L | rs1048661 | G | 0.810 (50) | 0.870 (50) | 0.34 |
| Exon 1 | c.763G>A | G153D | rs3825942 | G | 0.620 (50) | 0.600 (50) | 0.88 |
| Exon 1 | c.780T>G | S159A | Novel | T | 0.920 (50) | 0.920 (50) | 1.00 |
| Exon 1 | c.787C>T | S161L | Novel | C | 0.970 (50) | 0.990 (50) | 0.62 |
| Exon 1 | c.1,265G>T | A320A | rs41435250 | G | 1.000 (50) | 0.966 (44) | 0.10 |
| Intron 3 | g.82,933C>T | - | Novel | C | 0.917 (48) | 0.880 (46) | 0.47 |
| Exon 4 | c.1,772C>T | F489F | rs13329473 | C | 0.970 (50) | 0.980 (50) | 1.00 |
| Intron 4 | g.83,628G>A | - | rs74026313 | G | 0.730 (50) | 0.740 (50) | 1.00 |
| Intron 5 | g.84,278G>A | - | Novel | G | 0.990 (48) | 0.979 (48) | 1.00 |
| Exon 6 | c.2,004A>G | T567A | Novel | A | 0.989 (47) | 0.979 (48) | 1.00 |
| Exon 7 | c.2,130G>C | - | rs8818 | G | 0.543 (47) | 0.553 (48) | 1.00 |
| Exon 7 | c.2,196C>T | - | rs3522 | T | 0.674 (43) | 0.620 (47) | 0.53 |