Table 2.
Bio‐infomercial analyses of PAX2 mutations
| Nucleotide Change | Predicted Effect on Protein | Database | Frequency in normal control | In silico analysis | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | Mutation Taster | Polyphen2 | |||||||||
| ClinVar | HGMD | 1000G | ExAC | Prediction | Score | Prediction | Score | Prediction | Score | ||
| c.88G > T | p. Gly30Cys | – | – | – | – | deleterious | 0.00 | disease causing | 0.99 | Probably damaging | 1.00 |
| c.76dupG | p. Val26Glyfs*28 | Pathogenic | Disease‐causing mutation | – | – | – | – | disease causing | 1.00 | – | – |
| c.76delG | p. Val26Cysfs*3 | Pathogenic | Disease‐causing mutation | – | – | – | – | disease causing | 1.00 | – | ‐ |
| c.272C > T | p. Ala91Val | – | – | – | – | deleterious | 0.01 | disease causing | 0.99 | Probably damaging | 1.00 |
| c.343C > T | p. Arg115* | – | Disease‐causing mutation | – | – | – | – | disease causing | 1.00 | – | – |
| c.418C > T | p. Arg140Trp | – | Disease‐causing mutation | – | – | deleterious | 0.00 | disease causing | 0.99 | Probably damaging | 1.00 |
| c.410 + 1G>A | – | – | – | – | – | – | – | disease causing | 1.00 | – | – |
Accession no: NM_ 003990.4