Table 6 Consite server results elucidate the effect of SNP on gene regulation
Mutation | Genomic position | Wild type TF* binding affinity (Species) | Score | Predicted Binding site | TF binding affinity after mutation | Score |
|---|---|---|---|---|---|---|
rs2274225 (exon 19) | g.290963,c.3871 + 40C > T | PAX6 (H.Sapiens) | 9.357 | c.3871 + 38 to c.3871 + 51 (TTCTTGGATGATTT) | Athb-1 | 6.726 |
rs759855980 (exon 27) | g.324232,c.6004-34G > A | PAX6 (H.Sapiens) | 11.332 | c.6004–39 to c.6004–26 (ATTACGGATGAATG) | Thing1-E47 | 7.912 |