| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239511 | 4 | 103239515 | -0.8 | 1.4 | 2.2 | 2.7 | 266.0 | -2.1 | -1.6 | 0.5 |
| IVS3nt-22c>t Sequence Walker |
g103204297a | 103204276 | 0 | 103204276 | 7.6 | 7.6 | 0.1 | 1.0 | 104.0 | -0.3 | -0.3 | 0.0 |
| IVS4nt-1g>a Sequence Walker |
c103193389t | 103193388 | 1 | 103193389 | 1.5 | 9.6 | 8.2 | 286.2 | 28616.6 | -1.6 | 0.2 | 1.8 |
| IVS4nt-1g>a Sequence Walker |
c103193389t | 103193387 | 2 | 103193389 | -1.5 | 0.2 | 1.7 | 1.2 | 118.8 | -2.3 | -1.9 | 0.4 |
| IVS5nt1delg Sequence Walker |
d103193320,103193320 | 103193298 | 22 | 103193320 | 2.6 | 2.7 | 0.0 | 1.0 | 103.2 | -1.4 | -1.3 | 0.0 |
| IVS5nt1g>a Sequence Walker |
c103193320t | 103193298 | 22 | 103193320 | 2.6 | 3.1 | 0.4 | 1.4 | 135.5 | -1.4 | -1.3 | 0.1 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179654 | 22 | 103179676 | 0.6 | 1.1 | 0.4 | 1.4 | 135.5 | -1.8 | -1.7 | 0.1 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179675 | 1 | 103179676 | -5.1 | 3.0 | 8.2 | 8.2 | 816.9 | -3.1 | -1.3 | 1.8 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179672 | 4 | 103179676 | -0.2 | 0.1 | 0.3 | 1.0 | 104.5 | -2.0 | -1.9 | 0.1 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179669 | 7 | 103179676 | 2.2 | 2.5 | 0.3 | 1.2 | 123.0 | -1.5 | -1.4 | 0.1 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179667 | 9 | 103179676 | 1.9 | 2.4 | 0.4 | 1.4 | 135.4 | -1.5 | -1.4 | 0.1 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179677 | -1 | 103179676 | -0.5 | 7.0 | 7.6 | 130.8 | 13079.4 | -2.1 | -0.4 | 1.7 |
| IVS7nt1g>a Sequence Walker |
c103179539t | 103179522 | 17 | 103179539 | 4.9 | 5.0 | 0.1 | 1.1 | 109.8 | -0.9 | -0.8 | 0.0 |
| IVS7nt1g>a Sequence Walker |
c103179539t | 103179515 | 24 | 103179539 | 4.0 | 4.4 | 0.4 | 1.3 | 130.5 | -1.1 | -1.0 | 0.1 |
| IVS7nt5g>a Sequence Walker |
c103179535t | 103179515 | 24 | 103179539 | 4.0 | 4.3 | 0.3 | 1.2 | 122.1 | -1.1 | -1.0 | 0.1 |
| IVS7nt-2a>t Sequence Walker |
t103178483a | 103178476 | 6 | 103178482 | -1.5 | 0.4 | 2.0 | 1.3 | 134.0 | -2.3 | -1.8 | 0.4 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178407 | 4 | 103178411 | 1.4 | 1.7 | 0.3 | 1.2 | 123.3 | -1.6 | -1.6 | 0.1 |
| IVS8nt-7a>g Sequence Walker |
t103173683c | 103173683 | -6 | 103173677 | 0.3 | 7.9 | 7.6 | 191.1 | 19111.1 | -1.9 | -0.2 | 1.7 |
| IVS9nt-2a>c Sequence Walker |
t103171158g | 103171149 | 8 | 103171157 | 1.9 | 3.9 | 2.0 | 4.1 | 407.6 | -1.5 | -1.1 | 0.4 |
| IVS9nt-2a>c Sequence Walker |
t103171158g | 103171136 | 21 | 103171157 | 0.2 | 0.7 | 0.5 | 1.4 | 141.7 | -1.9 | -1.8 | 0.1 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171046 | 14 | 103171060 | 3.8 | 4.3 | 0.5 | 1.4 | 142.6 | -1.1 | -1.0 | 0.1 |
| IVS10nt-11g>a Sequence Walker |
c103170515t | 103170492 | 13 | 103170505 | 1.8 | 2.2 | 0.3 | 1.2 | 124.0 | -1.5 | -1.5 | 0.1 |
| IVS10nt-11g>a Sequence Walker |
c103170515t | 103170514 | -9 | 103170505 | -5.5 | 2.7 | 8.2 | 6.4 | 636.3 | -3.1 | -1.4 | 1.8 |
| IVS10nt-3c>t Sequence Walker |
g103170507a | 103170492 | 13 | 103170505 | 1.8 | 2.1 | 0.2 | 1.2 | 116.1 | -1.5 | -1.5 | 0.0 |
| IVS11nt-8g>a Sequence Walker |
c103167248t | 103167247 | -6 | 103167241 | -5.6 | 2.6 | 8.2 | 6.1 | 608.5 | -3.2 | -1.4 | 1.8 |
| IVS12nt2t>c Sequence Walker |
a103167123g | 103167124 | 0 | 103167124 | 3.2 | 3.5 | 0.3 | 1.2 | 123.5 | -1.2 | -1.2 | 0.1 |