Table 2 of
Li, Mol Vis 2016; 22:589-598. Table 2 of
Li, Mol Vis 2016; 22:589-598.
Table 2. Summary of 23 SCC-specific mutations.
| Gene | Exonic/ | Transcript | Codon | dbSNP | Status | SIFT | PolyPhen | SCC | EXAC |
|---|---|---|---|---|---|---|---|---|---|
| Biotype | patient (N) | (East Asia) | |||||||
| BFSP1 | MISSENSE | NM_001195:p.Glu468Lys | Gag/Aag | Het | 0.02 damaging | 0.531 possibly damaging | 1 | 0 | |
| BFSP2 | MISSENSE | NM_003571:p.Gly68Asp | gGc/gAc | Het | 0.01 damaging | 0.981 probably damaging | 1 | NA | |
| CRYAA | MISSENSE | NM_000394:p.Val161Met | Gtg/Atg | Het | 0 damaging | 0.965 probably damaging | 1 | 0 | |
| CRYBA2 | MISSENSE | NM_005209:p.Phe63Ser | tTc/tCc | Het | 0 damaging | 1.000 probably damaging | 1 | NA | |
| CRYBB3 | MISSENSE | NM_004076:p.Gly156Arg | Ggg/Agg | Het | 0 damaging | 1.000 probably damaging | 2 | NA | |
| CRYBB3 | MISSENSE | NM_004076:p.Gly76Arg | Ggg/Agg | Het | 0 damaging | 1.000 probably damaging | 1 | 0.000231 | |
| CRYBB3 | MISSENSE | NM_004076:p.Arg105Gln | cGg/cAg | rs17670506 | Het | 0.03 damaging | 1.000 probably damaging | 1 | 0.000694 |
| CRYGA | SPLICE_SITE ACCEPTOR | NM_014617 | Het | N/A | 1 | NA | |||
| CRYGC | NONSENSE | NM_020989:p.Gln113* | Cag/Tag | Het | N/A | 1 | NA | ||
| CRYGC | MISSENSE | NM_020989:p.Glu94Lys | Gag/Aag | rs200572745 | Het | 0 damaging | 0.999 probably damaging | 1 | 0.000116 |
| EPHA2 | NONSENSE | NM_004431:p.Lys935* | Aag/Tag | Het | N/A | 1 | NA | ||
| EPHA2 | MISSENSE | NM_004431:p.Glu934Lys | Gag/Aag | Het | 0.01 damaging | 0.985 probably damaging | 1 | 0 | |
| FBN1 | MISSENSE | NM_000138:p.Asn497Lys | aaC/aaG | Het | 0.04 damaging | 0.856 possibly damaging | 1 | NA | |
| FOXE3 | MISSENSE | NM_012186:p.Pro149Ser | Ccc/Tcc | Het | 0 damaging | 0.999 probably damaging | 1 | NA | |
| HSF4 | MISSENSE | NM_001040667:p.Pro60His | cCc/cAc | Het | 0 damaging | 1.000 probably damaging | 1 | NA | |
| MYOC | MISSENSE | NM_000261:p.Leu215Pro | cTg/cCg | Het | 0 damaging | 1.000 probably damaging | 1 | 0.000578 | |
| NHS | NONSENSE | NM_198270:p.Arg248* | Cga/Tga | Het | N/A | 1 | NA | ||
| NHS | NONSENSE | NM_198270:p.Arg565* | Cga/Tga | Hom | N/A | 1 | NA | ||
| PAX6 | NONSENSE | NM_001604:p.Glu123* | Gag/Tag | Het | N/A | 1 | NA | ||
| SLC16A12 | MISSENSE | NM_213606:p.Asn333Asp | Aat/Gat | Het | 0 damaging | 1.000 probably damaging | 1 | NA | |
| TDRD7 | MISSENSE | NM_014290:p.Gln28Pro | cAa/cCa | Het | 0 damaging | 0.999 probably damaging | 1 | 0.000116 | |
| WDR36 | SPLICE_SITE _DONOR | NM_139281 | Het | N/A | 1 | NA | |||
| WDR36 | MISSENSE | NM_139281:p.Arg703Gln | cGg/cAg | Het | N/A | 0.987 probably damaging | 1 | NA |