Table 3 of
Chen, Mol Vis 2015; 21:1378-1386. Table 3 of
Chen, Mol Vis 2015; 21:1378-1386.
Table 3. Summary of in silico analysis results.
| Gene | Nucleotide change | Amino acid change | Polyphen-2 | SIFT | PANTHER | ConSurf (score*) |
|---|---|---|---|---|---|---|
| KRT3 | c.250C>T | p.(Arg84Trp) | Probably damaging | Tolerated | Probably damaging | Slightly variable (4) |
| KRT12 | c.1288_1293delCGCCGCinsAGCCCT | p.(Arg430_Arg431delinsSerPro) | Probably damaging | Probably damaging | Probably damaging | High (9) |