Table 3. List of coding variants identified from MYOC exon sequencing in black South African individuals with or without POAG.
| Nucleotide sequence change* | AA change | dbSNP ID | Reported pathogenicity | Observed in POAG (n=113) | Observed in controls (n=131) |
|---|---|---|---|---|---|
| c.1357delT |
Tyr453MetfsX11 |
- |
Glaucoma-Causing [20] |
3 (2.7%) |
1 (0.8%) |
| c.654G>A |
Glu218Glu |
- |
Novel |
2 (1.8%) |
3 (2.3%) |
| c.1121G>T |
Gly374Val |
- |
Novel |
2 (1.8%) |
0 (0.0%) |
| c.1054G>A |
Glu352Lys |
rs61745146 |
Uncertain [20,24,25] |
5 (4.4%) |
5 (3.8%) |
| c.39T>G |
Pro13Pro |
rs12082573 |
Neutral [20] |
8 (7.1%) |
10 (7.6%) |
| c.227G>A |
Arg76Lys |
rs2234926 |
Neutral [20] |
0 (0.0%) |
1 (0.8%) |
| c.477A>G |
Leu159Leu |
rs61730977 |
Neutral [20] |
7 (6.2%) |
9 (6.9%) |
| c.612G>T |
Thr204Thr |
rs57824969 |
Neutral [20] |
5 (4.4%) |
3 (2.3%) |
| c.975G>A |
Thr325Thr |
rs61730976 |
Neutral [20] |
14 (12.4%) |
6 (4.6%) |
| c.1041T>C |
Tyr347Tyr |
rs61730974 |
Neutral [20] |
0 (0.0%) |
1 (0.8%) |
| c.1188G>A |
Glu396Glu |
rs61730975 |
Neutral [20] |
9 (8.0%) |
7 (5.3%) |
| c.1499A>G | Lys500Arg | - | Neutral [20]‡ | 2 (1.8%) | 0 (0.0%) |
*Nucleotides numbered as in Ensembl accession number ENSG00000034971 (transcript ENST00000037502). ‡See text.