| Gene: | PAH |
| mRNA Accession: | U49897 |
| Mutation: | PAH.txt |
| Chromosome: | chr 12 |
| Mutation Submitted | Mutation Instruction | Genomic Coordinate | Position Relative to Natural Site | Closest Natural Site | Initial(Ri) | Final(Ri) | Δ Ri | Fold change | % Binding (Final/Initial) | Initial(Z) | Final(z) | Δ Z |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IVS1nt5g>t Sequence Walker |
c103243791a | 103243795 | 0 | 103243795 | 10.7 | 6.8 | -3.9 | -15.1 | 6.6 | 0.8 | -0.4 | -1.2 |
| IVS2nt1g>a Sequence Walker |
c103239515t | 103239515 | 0 | 103239515 | 7.2 | -5.6 | -12.8 | -144.4 | NA | -0.3 | -4.1 | -3.9 |
| IVS2nt5g>c Sequence Walker |
c103239511g | 103239515 | 0 | 103239515 | 7.2 | 3.2 | -3.9 | -15.5 | 6.4 | -0.3 | -1.5 | -1.2 |
| IVS2nt5g>t Sequence Walker |
c103239511a | 103239515 | 0 | 103239515 | 7.2 | 3.3 | -3.9 | -15.1 | 6.6 | -0.3 | -1.4 | -1.2 |
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239515 | 0 | 103239515 | 7.2 | 6.0 | -1.2 | -2.3 | 42.8 | -0.3 | -0.6 | -0.4 |
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239498 | 17 | 103239515 | 1.6 | -5.9 | -7.5 | -3.0 | NA | -1.9 | -4.2 | -2.3 |
| IVS4nt1g>a Sequence Walker |
c103204186t | 103204186 | 0 | 103204186 | 6.8 | -6.0 | -12.8 | -109.9 | NA | -0.4 | -4.3 | -3.9 |
| IVS5nt1delg Sequence Walker |
d103193320,103193320 | 103193320 | 0 | 103193320 | 7.4 | -7.5 | -15.0 | -173.8 | NA | -0.2 | -4.7 | -4.5 |
| IVS5nt1g>a Sequence Walker |
c103193320t | 103193320 | 0 | 103193320 | 7.4 | -5.4 | -12.8 | -173.8 | NA | -0.2 | -4.1 | -3.9 |
| IVS5nt5delg Sequence Walker |
d103193316,103193316 | 103193320 | 0 | 103193320 | 7.4 | 1.8 | -5.7 | -50.4 | 1.9 | -0.2 | -1.9 | -1.7 |
| IVS7nt1g>a Sequence Walker |
c103179539t | 103179539 | 0 | 103179539 | 6.1 | -6.7 | -12.8 | -68.8 | NA | -0.6 | -4.5 | -3.9 |
| IVS7nt2t>a Sequence Walker |
a103179538t | 103179539 | 0 | 103179539 | 6.1 | -1.7 | -7.8 | -68.8 | NA | -0.6 | -2.9 | -2.4 |
| IVS7nt5g>a Sequence Walker |
c103179535t | 103179539 | 0 | 103179539 | 6.1 | 2.6 | -3.5 | -11.5 | 8.7 | -0.6 | -1.6 | -1.1 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178411 | 0 | 103178411 | 11.5 | -1.3 | -12.8 | -2922.7 | NA | 1.1 | -2.8 | -3.9 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173619 | 0 | 103173619 | 7.3 | 5.7 | -1.6 | -3.0 | 33.2 | -0.2 | -0.7 | -0.5 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171060 | 0 | 103171060 | 7.8 | -5.0 | -12.8 | -228.6 | NA | -0.1 | -3.9 | -3.9 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171060 | 0 | 103171060 | 7.8 | 7.4 | -0.4 | -1.3 | 75.7 | -0.1 | -0.2 | -0.1 |
| IVS11nt1g>a Sequence Walker |
c103170370t | 103170375 | -5 | 103170370 | 7.8 | 7.4 | -0.4 | -1.3 | 77.5 | -0.1 | -0.2 | -0.1 |
| IVS11nt1g>a Sequence Walker |
c103170370t | 103170370 | 0 | 103170370 | 10.4 | -2.4 | -12.8 | -1372.3 | NA | 0.7 | -3.2 | -3.9 |
| IVS11nt1g>c Sequence Walker |
c103170370g | 103170375 | -5 | 103170370 | 7.8 | 7.6 | -0.2 | -1.1 | 87.3 | -0.1 | -0.1 | -0.1 |
| IVS11nt1g>c Sequence Walker |
c103170370g | 103170370 | 0 | 103170370 | 10.4 | 0.6 | -9.8 | -894.5 | 0.1 | 0.7 | -2.2 | -3.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170353 | 17 | 103170370 | 10.5 | 6.1 | -4.4 | -21.1 | 4.7 | 0.8 | -0.6 | -1.3 |
| IVS12nt2t>c Sequence Walker |
a103167123g | 103167124 | 0 | 103167124 | 7.5 | 0.0 | -7.5 | -177.5 | 0.5 | -0.2 | -2.4 | -2.3 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165947 | -3 | 103165944 | 3.5 | 2.8 | -0.7 | -1.7 | 60.2 | -1.4 | -1.6 | -0.2 |
| IVS12nt-35c>t Sequence Walker |
g103165978a | 103165975 | -31 | 103165944 | 1.1 | -0.5 | -1.6 | -2.2 | NA | -2.1 | -2.6 | -0.5 |