| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239476 | 39 | 103239515 | 0.9 | 0.9 | -0.1 | -1.0 | 96.1 | -1.7 | -1.7 | -0.0 |
| IVS3nt-6t>a Sequence Walker |
a103204281t | 103204276 | 0 | 103204276 | 7.6 | 4.9 | -2.7 | -6.4 | 15.6 | -0.3 | -0.9 | -0.6 |
| IVS3nt-6t>a Sequence Walker |
a103204281t | 103204260 | 16 | 103204276 | 3.3 | 2.9 | -0.4 | -1.3 | 74.2 | -1.2 | -1.3 | -0.1 |
| IVS3nt-6t>a Sequence Walker |
a103204281t | 103204269 | 7 | 103204276 | 1.3 | -1.2 | -2.5 | -2.5 | NA | -1.7 | -2.2 | -0.5 |
| IVS3nt-6t>a Sequence Walker |
a103204281t | 103204261 | 15 | 103204276 | 0.5 | -0.4 | -0.9 | -1.5 | NA | -1.8 | -2.0 | -0.2 |
| IVS4nt1g>a Sequence Walker |
c103204186t | 103204168 | 18 | 103204186 | 4.4 | 4.2 | -0.2 | -1.2 | 86.5 | -1.0 | -1.0 | -0.0 |
| IVS4nt-1g>a Sequence Walker |
c103193389t | 103193389 | 0 | 103193389 | 10.8 | 3.3 | -7.6 | -191.1 | 0.5 | 0.4 | -1.2 | -1.7 |
| IVS4nt-1g>a Sequence Walker |
c103193389t | 103193379 | 10 | 103193389 | 4.9 | 4.4 | -0.4 | -1.4 | 73.8 | -0.9 | -1.0 | -0.1 |
| IVS4nt-5c>g Sequence Walker |
g103193393c | 103193389 | 0 | 103193389 | 10.8 | 8.3 | -2.5 | -5.7 | 17.4 | 0.4 | -0.1 | -0.6 |
| IVS4nt-5c>g Sequence Walker |
g103193393c | 103193379 | 10 | 103193389 | 4.9 | 3.6 | -1.3 | -2.5 | 40.5 | -0.9 | -1.2 | -0.3 |
| IVS4nt-5c>g Sequence Walker |
g103193393c | 103193388 | 1 | 103193389 | 1.5 | -1.2 | -2.7 | -2.8 | NA | -1.6 | -2.2 | -0.6 |
| IVS5nt1delg Sequence Walker |
d103193320,103193320 | 103193320 | 0 | 103193320 | 0.4 | -13.3 | -13.7 | -1.4 | NA | -1.8 | -4.8 | -3.0 |
| IVS5nt1g>a Sequence Walker |
c103193320t | 103193320 | 0 | 103193320 | 0.4 | -7.1 | -7.6 | -1.4 | NA | -1.8 | -3.5 | -1.7 |
| IVS5nt5delg Sequence Walker |
d103193316,103193316 | 103193298 | 22 | 103193320 | 2.6 | 2.3 | -0.4 | -1.3 | 77.4 | -1.4 | -1.4 | -0.1 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193250 | 70 | 103193320 | 1.8 | 0.5 | -1.3 | -2.5 | 40.3 | -1.5 | -1.8 | -0.3 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193246 | 74 | 103193320 | 11.0 | 10.0 | -1.0 | -2.1 | 48.5 | 0.5 | 0.2 | -0.2 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193257 | 63 | 103193320 | 0.6 | -1.1 | -1.7 | -1.5 | NA | -1.8 | -2.2 | -0.4 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193243 | 77 | 103193320 | 0.3 | -0.7 | -1.0 | -1.2 | NA | -1.9 | -2.1 | -0.2 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179676 | 0 | 103179676 | 14.7 | 7.1 | -7.6 | -191.1 | 0.5 | 1.3 | -0.4 | -1.7 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179667 | 9 | 103179676 | 1.9 | 1.5 | -0.4 | -1.3 | 74.8 | -1.5 | -1.6 | -0.1 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179676 | 0 | 103179676 | 14.7 | 6.5 | -8.2 | -286.2 | 0.3 | 1.3 | -0.5 | -1.8 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179654 | 22 | 103179676 | 0.6 | 0.3 | -0.3 | -1.2 | 80.5 | -1.8 | -1.9 | -0.1 |
| IVS7nt2t>a Sequence Walker |
a103179538t | 103179522 | 17 | 103179539 | 4.9 | 3.5 | -1.4 | -2.7 | 37.3 | -0.9 | -1.2 | -0.3 |
| IVS7nt2t>a Sequence Walker |
a103179538t | 103179515 | 24 | 103179539 | 4.0 | 3.4 | -0.6 | -1.6 | 64.3 | -1.1 | -1.2 | -0.1 |
| IVS7nt5g>a Sequence Walker |
c103179535t | 103179522 | 17 | 103179539 | 4.9 | 4.4 | -0.5 | -1.5 | 68.5 | -0.9 | -1.0 | -0.1 |
| IVS7nt-2a>t Sequence Walker |
t103178483a | 103178482 | 0 | 103178482 | 10.8 | 3.4 | -7.4 | -171.7 | 0.5 | 0.4 | -1.2 | -1.6 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178412 | -1 | 103178411 | 9.4 | 8.4 | -1.0 | -1.9 | 51.5 | 0.1 | -0.1 | -0.2 |
| IVS8nt-5t>g Sequence Walker |
a103173681c | 103173677 | 0 | 103173677 | 10.0 | 6.9 | -3.1 | -8.9 | 11.2 | 0.3 | -0.4 | -0.7 |
| IVS8nt-5t>g Sequence Walker |
a103173681c | 103173683 | -6 | 103173677 | 0.3 | -0.2 | -0.5 | -1.2 | NA | -1.9 | -2.0 | -0.1 |
| IVS8nt-7a>g Sequence Walker |
t103173683c | 103173677 | 0 | 103173677 | 10.0 | 10.0 | -0.1 | -1.0 | 95.7 | 0.3 | 0.2 | -0.0 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173600 | 19 | 103173619 | 3.5 | 1.5 | -2.0 | -3.9 | 25.5 | -1.2 | -1.6 | -0.4 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173599 | 20 | 103173619 | 3.1 | 1.5 | -1.6 | -2.9 | 34.1 | -1.3 | -1.6 | -0.3 |
| IVS9nt-2a>c Sequence Walker |
t103171158g | 103171157 | 0 | 103171157 | 9.6 | 2.2 | -7.4 | -171.7 | 0.5 | 0.2 | -1.5 | -1.6 |
| IVS9nt-5t>a Sequence Walker |
a103171161t | 103171157 | 0 | 103171157 | 9.6 | 6.7 | -2.8 | -7.2 | 13.8 | 0.2 | -0.5 | -0.6 |
| IVS9nt-5t>a Sequence Walker |
a103171161t | 103171149 | 8 | 103171157 | 1.9 | -0.6 | -2.5 | -3.7 | NA | -1.5 | -2.1 | -0.5 |
| IVS9nt-5t>a Sequence Walker |
a103171161t | 103171136 | 21 | 103171157 | 0.2 | -0.1 | -0.3 | -1.2 | NA | -1.9 | -2.0 | -0.1 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171061 | -1 | 103171060 | 7.6 | 6.7 | -1.0 | -1.9 | 51.5 | -0.3 | -0.5 | -0.2 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171046 | 14 | 103171060 | 3.8 | 3.5 | -0.3 | -1.2 | 81.8 | -1.1 | -1.2 | -0.1 |
| IVS10nt-11g>a Sequence Walker |
c103170515t | 103170505 | 0 | 103170505 | 5.2 | 4.8 | -0.4 | -1.4 | 73.8 | -0.8 | -0.9 | -0.1 |
| IVS10nt-3c>t Sequence Walker |
g103170507a | 103170505 | 0 | 103170505 | 5.2 | 3.6 | -1.7 | -3.2 | 31.6 | -0.8 | -1.2 | -0.4 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165944 | 0 | 103165944 | 12.5 | 11.9 | -0.6 | -1.5 | 64.5 | 0.8 | 0.7 | -0.1 |
| IVS12nt-35c>t Sequence Walker |
g103165978a | 103165976 | -32 | 103165944 | 1.4 | -0.3 | -1.7 | -2.6 | NA | -1.6 | -2.0 | -0.4 |