Table 3 of
Li, Mol Vis 2016; 22:589-598. Table 3 of
Li, Mol Vis 2016; 22:589-598.
Table 3. Predicted functional mutations identified in 19 SCC patients.
| Patient # | Identified variant/variants SIFT Polyphen-2 | Uni/Bi- lateral | Phenotype |
|---|---|---|---|
| 1 | CRYAA, p.Val161Met 0 0.965 | B | Nuclear |
| 3 | EPHA2, p.Lys935* 0.56 N/A | B | Total |
| CRYGA, Splice site N/A N/A acceptor | |||
| 4 | WDR36, Splice site N/A N/A donor | U | Posterior polar |
| 5 | CRYBA2, p.Phe63Ser, 0 1.000 | B | Posterior polar |
| 10 | CRYBB3, p.Gly156Arg 0 1 | B | Nuclear |
| 24 | FBN1, p.Asn497Lys 0.04 0.856 | U | Nuclear |
| 31 | PAX6, p.Glu123* N/A N/A | B | Total |
| FOXE3, p.Pro149Ser 0 0.999 | |||
| 32 | NHS, p.Arg248* (X-link) N/A N/A | B | Cortical |
| EPHA2, p.Glu934Lys 0.01 0.985 | |||
| 35 | MYOC, p.Leu215Pro 0 1.000 | B | Nuclear |
| 37 | CRYGC, p.Glu94Lys 0 0.999 | U | Total |
| 50 | BFSP1, p.Glu468Lys 0.02 0.531 | B | Nucelar |
| 51 | CRYBB3, p.Gly156Arg 0 1.000 | B | Nuclear |
| BFSP2, p.Gly68Asp 0.01 0.981 | |||
| 56 | WDR36, p.Arg703Gln N/A 0.987 | B | Nuclear |
| 57 | CRYGC, p.Gln113* 0.2 N/A | B | Nuclear |
| HSF4, p.Pro60His 0 1.000 | |||
| 59 | NHS, p.Arg565*,(X-link) N/A N/A (Hom) | B | Nuclear |
| 60 | CRYBB3, p.Gly76Arg 0 1.000 | U | Cortical |
| 62 | TDRD7, p.Gln28Pro 0 0.999 | B | Posterior polar |
| 68 | CRYBB3, p.Arg105Gln 0.03 1.000 | B | Total |
| 70 | SLC16A12, p.Asn333Asp 0 1.000 | U | Nuclear |