Table 3. List of coding variants identified from LOXL1 exon sequencing in South African black individuals with or without exfoliation glaucoma.
| Location | Nucleotide sequence change* | Amino acid change | SNP ID | Allele | Allele frequency controls (N) | Allele frequency XFG (N) | p value |
|---|---|---|---|---|---|---|---|
| Promoter |
g.62,481A>C |
- |
rs16958477 |
A |
0.862 (47) |
0.947 (47) |
0.08 |
| Exon 1 |
c.98G>A |
- |
Novel |
G |
0.990 (48) |
1.000 (48) |
1.00 |
| Exon 1 |
c.727G>T |
R141L |
rs1048661 |
G |
0.810 (50) |
0.990 (50) |
1.7×10−5‡ |
| Exon 1 |
c.763G>A |
G153D |
rs3825942 |
G |
0.620 (50) |
0.130 (50) |
5.2×10−13‡ |
| Exon 1 |
c.780T>G |
S159A |
Novel |
T |
0.920 (50) |
0.980 (50) |
0.10 |
| Exon 1 |
c.787C>T |
S161L |
Novel |
C |
0.970 (50) |
1.000 (50) |
0.25 |
| Exon1 |
c.939G>A |
V212M |
Novel |
G |
0.990 (50) |
0.980 (50) |
1.00 |
| Exon 1 |
c.1,157C>T |
P284P |
Novel |
C |
0.990 (48) |
1.000 (48) |
1.00 |
| Exon 1 |
c.1,265G>T |
A320A |
rs41435250 |
G |
1.000 (50) |
0.990 (49) |
0.49 |
| Intron 3 |
g.82,933C>T |
- |
Novel |
C |
0.917 (48) |
0.963 (41) |
0.23 |
| 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) |
0.470 (50) |
0.00028‡ |
| Intron 5 |
g.84,278G>A |
- |
Novel |
G |
0.990 (48) |
1.000 (48) |
1.00 |
| Exon 6 |
c.2,004A>G |
T567A |
Novel |
A |
0.989 (47) |
1.000 (48) |
0.50 |
| Exon 7 |
c.2,130G>C |
- |
rs8818 |
G |
0.543 (47) |
0.521 (48) |
0.77 |
| Exon 7 | c.2,196C>T | - | rs3522 | T | 0.674 (43) | 0.830 (47) | 0.023 |