Table 1 of
Jiang, Mol Vis 2013; 19:2217-2226. Table 1 of
Jiang, Mol Vis 2013; 19:2217-2226.
Table 1. Variations in PRSS56 detected in 189 probands with PACG and 110 probands with high hyperopia.
| Number | Exon | Variation | Effect | Status | *Probands | Controls | Polyphen-2 (scores) | SIFT (scores) | Remarks |
|---|---|---|---|---|---|---|---|---|---|
| 1 | E4 | c.299G>A | p.Arg100Gln | hetero | G106, G165 | 0/262 NC | benign(0.088) | tolerant(0.75) | novel |
| 2 | E4 | c.376G>T | p.Gly126Trp | hetero | QT900; G228 | 0/262 NC | probably damaging(0.978) | intolerant (0.01) | novel |
| 3 | E4 | c.431C>T | p.Ala144Val | homo | G207 | 0/262 NC | possibly damaging(0.754) | intolerant(0.00) | novel |
| 4 | E6 | c.656C>G | p.Pro219Arg | hetero | QT488 | 0/262 NC | possbily damaging(0.719) | tolerant (0.35) | novel |
| 5 | E7 | c.739C>A | p.Arg247Ser | hetero | QT616 | 1/262 NC | benign(0.588) | tolerant (0.27) | novel |
| 6 | E7 | c.746C>T | p.Pro249Leu | hetero | QT922 | 0/262 NC | possbily damaging(0.944) | intolerant (0.01) | novel |
| 7 | E7 | c.794G>A | p.Arg265His | hetero | QT297 | 0/262 NC | benign(0.012) | tolerant (0.24) | novel |
| 8 | E7 | c.827C>T | p.Ala276Val | hetero | QT490 | 0/262 NC | possbily damaging(0.572) | tolerant (0.10) | novel |
| 9 | E9 | c.1019C>T | p.Ser340Phe | hetero | QT968 | 3/262 NC | possbily damaging(0.719) | tolerant (0.70) | novel |
| 10 | E9 | c.1066dupC | p.Gln356Profs*152 | hetero | QT316, G182 | 0/262 NC | / | / | Known [51-53] |
| 11 | E13 | c.1687C>T | p.Arg563Cys | hetero | QT703 | 0/262 NC | probably damaging(0.930) | intolerant (0.00) | novel |