Table 4 of
Liu, Mol Vis 2012; 18:2241-2246. Table 4 of
Liu, Mol Vis 2012; 18:2241-2246.
Table 4. List of synonymous and non-coding variants identified from MYOC exon sequencing in 529 African American POAG subjects and 270 controls.
Location |
Amino acid change |
Nucleotide change* |
dbSNP ID |
Number of cases |
Number of controls |
p-value† |
|---|---|---|---|---|---|---|
| Exon 1 | Pro13Pro | 39A>C | rs12082573 | 35 (6.6%) | 8 (3.0%) | 0.12 |
| Exon 1 | Gln101Gln | 303T>C | rs61730978 | 1 (0.2%) | 0 (0.0%) | 1.0 |
| Exon 1 | Gly122Gly | 366G>A | 2 (0.4%) | 0 (0.0%) | 0.55 | |
| Exon 1 | Leu159Leu | 477T>C | rs61730977 | 70 (13.2%) | 29 (10.7%) | 0.36 |
| Exon 2 | Thr204Thr | 612C>A | rs57824969 | 11 (2.1%) | 3 (1.1%) | 0.40 |
| Exon 3 | Thr285Thr | 855C>A | 0 (0.0%) | 1 (0.4%) | 0.34 | |
| Exon 3 | Thr293Thr | 879C>T | 1 (0.2%) | 0 (0.0%) | 1.0 | |
| Exon 3 | Thr325Thr | 975C>T | rs61730976 | 61 (11.5%) | 37 (13.7%) | 0.42 |
| Exon 3 | Tyr347Tyr | 1041A>G | rs61730974 | 6 (1.1%) | 0 (0.0%) | 0.10 |
| Exon 3 | Glu396Glu | 1188C>T | rs61730975 | 37 (7.0%) | 13 (4.8%) | 0.28 |
| 5′ UTR | 1515+4c>g | 0 (0.0%) | 1 (0.4%) | 0.34 |