Table 3 of Whigham, Mol Vis 2011; 17:1064-1069. Table 3 of Whigham, Mol Vis 2011; 17:1064-1069.
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%) |