Table 3. Non-synonymous mutations detected in nanophthalmos patient IV-3 of Pedigree 991-F.
| Gene | Mutation | Co-inheritance with disease in pedigree | SIFT | Polyphen | Blosum62 |
|---|---|---|---|---|---|
| ZNF286A |
Pro87Ser |
No |
0.01 (damaging) |
0.001 (benign) |
−1 |
| ZNF287 |
Cys48Arg |
No |
0.07 (tolerated) |
0.993 (probably damaging) |
−3 |
| SLC47A1 |
Ile414Thr |
Yes |
0 (damaging) |
0.45 (benign) |
−1 |
| TMEM98 | His196Pro | Yes | 0 (damaging) | 0.998 (probably damaging) | −2 |
Exome sequencing identified four non-synonymous mutations in the chromosome 17 critical region. Mutations were evaluated for pathogenicity based on co-inheritance with nanophthalmos in pedigree 991-F and with three mutation analysis software packages.