| 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 | 103243817 | -22 | 103243795 | 0.8 | 0.8 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS1nt5g>t Sequence Walker |
c103243791a | 103243768 | 27 | 103243795 | 0.7 | 0.7 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS1nt5g>t Sequence Walker |
c103243791a | 103243767 | 28 | 103243795 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt1g>a Sequence Walker |
c103239515t | 103239551 | -36 | 103239515 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt1g>a Sequence Walker |
c103239515t | 103239547 | -32 | 103239515 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt1g>a Sequence Walker |
c103239515t | 103239533 | -18 | 103239515 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS2nt1g>a Sequence Walker |
c103239515t | 103239498 | 17 | 103239515 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt5g>c Sequence Walker |
c103239511g | 103239551 | -36 | 103239515 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt5g>c Sequence Walker |
c103239511g | 103239547 | -32 | 103239515 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt5g>c Sequence Walker |
c103239511g | 103239533 | -18 | 103239515 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS2nt5g>c Sequence Walker |
c103239511g | 103239498 | 17 | 103239515 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt5g>t Sequence Walker |
c103239511a | 103239551 | -36 | 103239515 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt5g>t Sequence Walker |
c103239511a | 103239547 | -32 | 103239515 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt5g>t Sequence Walker |
c103239511a | 103239533 | -18 | 103239515 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS2nt5g>t Sequence Walker |
c103239511a | 103239498 | 17 | 103239515 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239551 | -36 | 103239515 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239547 | -32 | 103239515 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239533 | -18 | 103239515 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS2nt6t>g Sequence Walker |
a103239510c | 103239498 | 17 | 103239515 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239547 | -32 | 103239515 | 1.5 | 1.5 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239533 | -18 | 103239515 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239515 | 0 | 103239515 | 7.2 | 7.2 | 0.0 | 1.0 | 100 | -0.3 | -0.3 | 0.0 |
| IVS2nt19t>c Sequence Walker |
a103239497g | 103239453 | 62 | 103239515 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS4nt1g>a Sequence Walker |
c103204186t | 103204171 | 15 | 103204186 | 2.0 | 2.0 | 0.0 | 1.0 | 100 | -1.8 | -1.8 | 0.0 |
| IVS4nt-1g>a Sequence Walker |
c103193389t | 103193406 | -17 | 103193389 | 5.1 | 5.1 | 0.0 | 1.0 | 100 | -0.9 | -0.9 | 0.0 |
| IVS4nt-5c>g Sequence Walker |
g103193393c | 103193443 | -54 | 103193389 | 4.4 | 4.4 | 0.0 | 1.0 | 100 | -1.1 | -1.1 | 0.0 |
| IVS4nt-5c>g Sequence Walker |
g103193393c | 103193406 | -17 | 103193389 | 5.1 | 5.1 | 0.0 | 1.0 | 100 | -0.9 | -0.9 | 0.0 |
| IVS5nt1delg Sequence Walker |
d103193320,103193320 | 103193296 | 24 | 103193320 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS5nt1g>a Sequence Walker |
c103193320t | 103193296 | 24 | 103193320 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS5nt5delg Sequence Walker |
d103193316,103193316 | 103193296 | 24 | 103193320 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193296 | 24 | 103193320 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS5nt54c>g Sequence Walker |
g103193267c | 103193245 | 75 | 103193320 | 3.3 | 3.3 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179714 | -38 | 103179676 | 3.9 | 3.9 | 0.0 | 1.0 | 100 | -1.2 | -1.2 | 0.0 |
| IVS6nt-1g>a Sequence Walker |
c103179676t | 103179649 | 27 | 103179676 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179714 | -38 | 103179676 | 3.9 | 3.9 | 0.0 | 1.0 | 100 | -1.2 | -1.2 | 0.0 |
| IVS6nt-2a>g Sequence Walker |
t103179677c | 103179649 | 27 | 103179676 | 0.9 | 0.9 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS7nt1g>a Sequence Walker |
c103179539t | 103179581 | -42 | 103179539 | 0.7 | 0.7 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS7nt1g>a Sequence Walker |
c103179539t | 103179554 | -15 | 103179539 | 1.2 | 1.2 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS7nt2t>a Sequence Walker |
a103179538t | 103179581 | -42 | 103179539 | 0.7 | 0.7 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS7nt2t>a Sequence Walker |
a103179538t | 103179554 | -15 | 103179539 | 1.2 | 1.2 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS7nt5g>a Sequence Walker |
c103179535t | 103179581 | -42 | 103179539 | 0.7 | 0.7 | 0.0 | 1.0 | 100 | -2.2 | -2.2 | 0.0 |
| IVS7nt5g>a Sequence Walker |
c103179535t | 103179554 | -15 | 103179539 | 1.2 | 1.2 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS7nt-2a>t Sequence Walker |
t103178483a | 103178453 | 29 | 103178482 | 0.1 | 0.1 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178453 | -42 | 103178411 | 0.1 | 0.1 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178406 | 5 | 103178411 | 0.5 | 0.5 | 0.0 | 1.0 | 100 | -2.3 | -2.3 | 0.0 |
| IVS8nt1g>a Sequence Walker |
c103178411t | 103178377 | 34 | 103178411 | 3.6 | 3.6 | 0.0 | 1.0 | 100 | -1.3 | -1.3 | 0.0 |
| IVS8nt-5t>g Sequence Walker |
a103173681c | 103173676 | 1 | 103173677 | 1.4 | 1.4 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS8nt-5t>g Sequence Walker |
a103173681c | 103173654 | 23 | 103173677 | 0.2 | 0.2 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS8nt-7a>g Sequence Walker |
t103173683c | 103173676 | 1 | 103173677 | 1.4 | 1.4 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS8nt-7a>g Sequence Walker |
t103173683c | 103173654 | 23 | 103173677 | 0.2 | 0.2 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173654 | -35 | 103173619 | 0.2 | 0.2 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173598 | 21 | 103173619 | 2.8 | 2.8 | 0.0 | 1.0 | 100 | -1.6 | -1.6 | 0.0 |
| IVS9nt6t>a Sequence Walker |
a103173614t | 103173591 | 28 | 103173619 | 2.2 | 2.2 | 0.0 | 1.0 | 100 | -1.8 | -1.8 | 0.0 |
| IVS9nt-2a>c Sequence Walker |
t103171158g | 103171186 | -29 | 103171157 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS9nt-2a>c Sequence Walker |
t103171158g | 103171116 | 41 | 103171157 | 0.2 | 0.2 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS9nt-5t>a Sequence Walker |
a103171161t | 103171186 | -29 | 103171157 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS9nt-5t>a Sequence Walker |
a103171161t | 103171116 | 41 | 103171157 | 0.2 | 0.2 | 0.0 | 1.0 | 100 | -2.4 | -2.4 | 0.0 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171095 | -35 | 103171060 | 2.2 | 2.2 | 0.0 | 1.0 | 100 | -1.8 | -1.8 | 0.0 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171071 | -11 | 103171060 | 4.6 | 4.6 | 0.0 | 1.0 | 100 | -1.0 | -1.0 | 0.0 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171024 | 36 | 103171060 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171021 | 39 | 103171060 | 6.5 | 6.5 | 0.0 | 1.0 | 100 | -0.5 | -0.5 | 0.0 |
| IVS10nt1g>a Sequence Walker |
c103171060t | 103171017 | 43 | 103171060 | 1.0 | 1.0 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171095 | -35 | 103171060 | 2.2 | 2.2 | 0.0 | 1.0 | 100 | -1.8 | -1.8 | 0.0 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171071 | -11 | 103171060 | 4.6 | 4.6 | 0.0 | 1.0 | 100 | -1.0 | -1.0 | 0.0 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171024 | 36 | 103171060 | 1.8 | 1.8 | 0.0 | 1.0 | 100 | -1.9 | -1.9 | 0.0 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171021 | 39 | 103171060 | 6.5 | 6.5 | 0.0 | 1.0 | 100 | -0.5 | -0.5 | 0.0 |
| IVS10nt3a>g Sequence Walker |
t103171058c | 103171017 | 43 | 103171060 | 1.0 | 1.0 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS10nt-11g>a Sequence Walker |
c103170515t | 103170535 | -30 | 103170505 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS10nt-3c>t Sequence Walker |
g103170507a | 103170535 | -30 | 103170505 | 1.6 | 1.6 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS11nt1g>a Sequence Walker |
c103170370t | 103170365 | 5 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt1g>a Sequence Walker |
c103170370t | 103170362 | 8 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt1g>a Sequence Walker |
c103170370t | 103170353 | 17 | 103170370 | 10.5 | 10.5 | 0.0 | 1.0 | 100 | 0.8 | 0.8 | 0.0 |
| IVS11nt1g>c Sequence Walker |
c103170370g | 103170365 | 5 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt1g>c Sequence Walker |
c103170370g | 103170362 | 8 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt1g>c Sequence Walker |
c103170370g | 103170353 | 17 | 103170370 | 10.5 | 10.5 | 0.0 | 1.0 | 100 | 0.8 | 0.8 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170375 | -5 | 103170370 | 7.8 | 7.8 | 0.0 | 1.0 | 100 | -0.1 | -0.1 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170370 | 0 | 103170370 | 10.4 | 10.4 | 0.0 | 1.0 | 100 | 0.7 | 0.7 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170365 | 5 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170362 | 8 | 103170370 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170321 | 49 | 103170370 | 1.4 | 1.4 | 0.0 | 1.0 | 100 | -2.0 | -2.0 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170308 | 62 | 103170370 | 3.2 | 3.2 | 0.0 | 1.0 | 100 | -1.5 | -1.5 | 0.0 |
| IVS11nt20g>c Sequence Walker |
c103170351g | 103170304 | 66 | 103170370 | 2.4 | 2.4 | 0.0 | 1.0 | 100 | -1.7 | -1.7 | 0.0 |
| IVS11nt-8g>a Sequence Walker |
c103167248t | 103167275 | -34 | 103167241 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS12nt2t>c Sequence Walker |
a103167123g | 103167085 | 39 | 103167124 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165975 | -31 | 103165944 | 1.1 | 1.1 | 0.0 | 1.0 | 100 | -2.1 | -2.1 | 0.0 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165959 | -15 | 103165944 | 2.5 | 2.5 | 0.0 | 1.0 | 100 | -1.7 | -1.7 | 0.0 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165943 | 1 | 103165944 | 5.1 | 5.1 | 0.0 | 1.0 | 100 | -0.9 | -0.9 | 0.0 |
| IVS12nt-5t>c Sequence Walker |
a103165948g | 103165903 | 41 | 103165944 | 4.6 | 4.6 | 0.0 | 1.0 | 100 | -1.0 | -1.0 | 0.0 |
| IVS12nt-35c>t Sequence Walker |
g103165978a | 103165959 | -15 | 103165944 | 2.5 | 2.5 | 0.0 | 1.0 | 100 | -1.7 | -1.7 | 0.0 |
| IVS12nt-35c>t Sequence Walker |
g103165978a | 103165947 | -3 | 103165944 | 3.5 | 3.5 | 0.0 | 1.0 | 100 | -1.4 | -1.4 | 0.0 |
| IVS12nt-35c>t Sequence Walker |
g103165978a | 103165943 | 1 | 103165944 | 5.1 | 5.1 | 0.0 | 1.0 | 100 | -0.9 | -0.9 | 0.0 |