Table 2 of
Shah, Mol Vis 2014; 20:790-796. Table 2 of
Shah, Mol Vis 2014; 20:790-796.
Table 2. Bioinformatics analysis of the novel homozygous variants.
| Gene | Accession Number | Variation | PolyPhen-2 | Mutation Taster | SIFT |
|---|---|---|---|---|---|
| ADAMTS17 | NM_139057.2 | c.873+1G>T | - | Disease causing (p value 1) | - |
| CAMK1D | NM_020397.2 | c.326G>A (p.R109Q) | Probably damaging (score 1.00) | Disease causing (p value 0.99) | Damaging (score 0.03) |
| PYROXD2 | NM_032709.2 | c.847G>A (p.V283I) | Probably damaging (score 0.907) | Disease causing (p value 0.99) | Damaging (score 0.01) |
| SIPA1L3 | NM_015073.1 | c.2488G>A (p.E830K) | Possibly damaging (score 0.617) | Disease causing (p value 0.99) | Damaging (score 0.01) |