Gene: PAH
mRNA Accession: U49897
Mutation:PAH.txt
Chromosome: chr 12

Sequence Walker  




IVS1nt5g>t


Instruction: c103243791a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103243817 -22 103243795 0.8 0.8 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 103243795 0 103243795 10.7 6.8 -3.9 -15.1 6.6 0.8 -0.4 -1.2
No change 103243768 27 103243795 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
No change 103243767 28 103243795 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0



IVS2nt1g>a


Instruction: c103239515t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103239551 -36 103239515 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103239547 -32 103239515 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0
No change 103239533 -18 103239515 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
No change 103239498 17 103239515 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0
Decreased 103239515 0 103239515 7.2 -5.6 -12.8 -144.4 NA -0.3 -4.1 -3.9



IVS2nt5g>c


Instruction: c103239511g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103239551 -36 103239515 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103239547 -32 103239515 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0
No change 103239533 -18 103239515 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103239515 0 103239515 7.2 3.2 -3.9 -15.5 6.4 -0.3 -1.5 -1.2
No change 103239498 17 103239515 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0



IVS2nt5g>t


Instruction: c103239511a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103239551 -36 103239515 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103239547 -32 103239515 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0
No change 103239533 -18 103239515 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103239515 0 103239515 7.2 3.3 -3.9 -15.1 6.6 -0.3 -1.4 -1.2
No change 103239498 17 103239515 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0



IVS2nt6t>g


Instruction: a103239510c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103239551 -36 103239515 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103239547 -32 103239515 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0
No change 103239533 -18 103239515 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103239515 0 103239515 7.2 6.0 -1.2 -2.3 42.8 -0.3 -0.6 -0.4
No change 103239498 17 103239515 1.6 1.6 0.0 1.0 100 -1.9 -1.9 0.0



IVS2nt19t>c


Instruction: a103239497g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103239547 -32 103239515 1.5 1.5 0.0 1.0 100 -2.0 -2.0 0.0
No change 103239533 -18 103239515 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
No change 103239515 0 103239515 7.2 7.2 0.0 1.0 100 -0.3 -0.3 0.0
No change 103239453 62 103239515 0.9 0.9 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103239498 17 103239515 1.6 -5.9 -7.5 -3.0 NA -1.9 -4.2 -2.3



IVS2nt19t>c

Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z )Δ Z
Increased 103204284 35231 103239515 -1.8 1.3 3.1 2.4 239.4 -3.0 -2.1 0.9



IVS4nt1g>a


Instruction: c103204186t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103204171 15 103204186 2.0 2.0 0.0 1.0 100 -1.8 -1.8 0.0
Decreased 103204186 0 103204186 6.8 -6.0 -12.8 -109.9 NA -0.4 -4.3 -3.9



IVS4nt-1g>a


Instruction: c103193389t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103193406 -17 103193389 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0



IVS4nt-5c>g


Instruction: g103193393c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103193443 -54 103193389 4.4 4.4 0.0 1.0 100 -1.1 -1.1 0.0
No change 103193406 -17 103193389 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0



IVS5nt1delg


Instruction: d103193320,103193320; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103193296 24 103193320 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 103193320 0 103193320 7.4 -7.5 -15.0 -173.8 NA -0.2 -4.7 -4.5



IVS5nt1g>a


Instruction: c103193320t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103193296 24 103193320 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 103193320 0 103193320 7.4 -5.4 -12.8 -173.8 NA -0.2 -4.1 -3.9



IVS5nt5delg


Instruction: d103193316,103193316; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Decreased 103193320 0 103193320 7.4 1.8 -5.7 -50.4 1.9 -0.2 -1.9 -1.7
No change 103193296 24 103193320 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0



IVS5nt54c>g


Instruction: g103193267c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103193296 24 103193320 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0
No change 103193245 75 103193320 3.3 3.3 0.0 1.0 100 -1.4 -1.4 0.0



IVS6nt-1g>a


Instruction: c103179676t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103179714 -38 103179676 3.9 3.9 0.0 1.0 100 -1.2 -1.2 0.0
No change 103179649 27 103179676 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0



IVS6nt-2a>g


Instruction: t103179677c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103179714 -38 103179676 3.9 3.9 0.0 1.0 100 -1.2 -1.2 0.0
No change 103179649 27 103179676 0.9 0.9 0.0 1.0 100 -2.2 -2.2 0.0



IVS7nt1g>a


Instruction: c103179539t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103179581 -42 103179539 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
No change 103179554 -15 103179539 1.2 1.2 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103179539 0 103179539 6.1 -6.7 -12.8 -68.8 NA -0.6 -4.5 -3.9



IVS7nt2t>a


Instruction: a103179538t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103179581 -42 103179539 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
No change 103179554 -15 103179539 1.2 1.2 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103179539 0 103179539 6.1 -1.7 -7.8 -68.8 NA -0.6 -2.9 -2.4



IVS7nt5g>a


Instruction: c103179535t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103179581 -42 103179539 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
No change 103179554 -15 103179539 1.2 1.2 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103179539 0 103179539 6.1 2.6 -3.5 -11.5 8.7 -0.6 -1.6 -1.1



IVS7nt-2a>t


Instruction: t103178483a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103178453 29 103178482 0.1 0.1 0.0 1.0 100 -2.4 -2.4 0.0



IVS8nt1g>a


Instruction: c103178411t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103178453 -42 103178411 0.1 0.1 0.0 1.0 100 -2.4 -2.4 0.0
No change 103178406 5 103178411 0.5 0.5 0.0 1.0 100 -2.3 -2.3 0.0
No change 103178377 34 103178411 3.6 3.6 0.0 1.0 100 -1.3 -1.3 0.0
Decreased 103178411 0 103178411 11.5 -1.3 -12.8 -2922.7 NA 1.1 -2.8 -3.9



IVS8nt-5t>g


Instruction: a103173681c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103173676 1 103173677 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 103173654 23 103173677 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0



IVS8nt-7a>g


Instruction: t103173683c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103173676 1 103173677 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 103173654 23 103173677 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0



IVS9nt6t>a


Instruction: a103173614t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103173654 -35 103173619 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0
Decreased 103173619 0 103173619 7.3 5.7 -1.6 -3.0 33.2 -0.2 -0.7 -0.5
No change 103173598 21 103173619 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0
No change 103173591 28 103173619 2.2 2.2 0.0 1.0 100 -1.8 -1.8 0.0



IVS9nt-2a>c


Instruction: t103171158g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103171186 -29 103171157 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103171116 41 103171157 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0



IVS9nt-5t>a


Instruction: a103171161t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103171186 -29 103171157 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103171116 41 103171157 0.2 0.2 0.0 1.0 100 -2.4 -2.4 0.0



IVS10nt1g>a


Instruction: c103171060t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103171095 -35 103171060 2.2 2.2 0.0 1.0 100 -1.8 -1.8 0.0
No change 103171071 -11 103171060 4.6 4.6 0.0 1.0 100 -1.0 -1.0 0.0
No change 103171024 36 103171060 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103171021 39 103171060 6.5 6.5 0.0 1.0 100 -0.5 -0.5 0.0
No change 103171017 43 103171060 1.0 1.0 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 103171060 0 103171060 7.8 -5.0 -12.8 -228.6 NA -0.1 -3.9 -3.9



IVS10nt3a>g


Instruction: t103171058c; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103171095 -35 103171060 2.2 2.2 0.0 1.0 100 -1.8 -1.8 0.0
No change 103171071 -11 103171060 4.6 4.6 0.0 1.0 100 -1.0 -1.0 0.0
Decreased 103171060 0 103171060 7.8 7.4 -0.4 -1.3 75.7 -0.1 -0.2 -0.1
No change 103171024 36 103171060 1.8 1.8 0.0 1.0 100 -1.9 -1.9 0.0
No change 103171021 39 103171060 6.5 6.5 0.0 1.0 100 -0.5 -0.5 0.0
No change 103171017 43 103171060 1.0 1.0 0.0 1.0 100 -2.1 -2.1 0.0



IVS10nt-11g>a


Instruction: c103170515t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103170535 -30 103170505 1.6 1.6 0.0 1.0 100 -2.0 -2.0 0.0



IVS10nt-3c>t


Instruction: g103170507a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103170535 -30 103170505 1.6 1.6 0.0 1.0 100 -2.0 -2.0 0.0



IVS11nt1g>a


Instruction: c103170370t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Decreased 103170375 -5 103170370 7.8 7.4 -0.4 -1.3 77.5 -0.1 -0.2 -0.1
No change 103170365 5 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103170362 8 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103170353 17 103170370 10.5 10.5 0.0 1.0 100 0.8 0.8 0.0
Decreased 103170370 0 103170370 10.4 -2.4 -12.8 -1372.3 NA 0.7 -3.2 -3.9



IVS11nt1g>c


Instruction: c103170370g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Decreased 103170375 -5 103170370 7.8 7.6 -0.2 -1.1 87.3 -0.1 -0.1 -0.1
Decreased 103170370 0 103170370 10.4 0.6 -9.8 -894.5 0.1 0.7 -2.2 -3.0
No change 103170365 5 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103170362 8 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103170353 17 103170370 10.5 10.5 0.0 1.0 100 0.8 0.8 0.0



IVS11nt20g>c


Instruction: c103170351g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103170375 -5 103170370 7.8 7.8 0.0 1.0 100 -0.1 -0.1 0.0
No change 103170370 0 103170370 10.4 10.4 0.0 1.0 100 0.7 0.7 0.0
No change 103170365 5 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103170362 8 103170370 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
Decreased 103170353 17 103170370 10.5 6.1 -4.4 -21.1 4.7 0.8 -0.6 -1.3
No change 103170321 49 103170370 1.4 1.4 0.0 1.0 100 -2.0 -2.0 0.0
No change 103170308 62 103170370 3.2 3.2 0.0 1.0 100 -1.5 -1.5 0.0
No change 103170304 66 103170370 2.4 2.4 0.0 1.0 100 -1.7 -1.7 0.0



IVS11nt-8g>a


Instruction: c103167248t; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103167275 -34 103167241 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0



IVS12nt2t>c


Instruction: a103167123g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
Decreased 103167124 0 103167124 7.5 0.0 -7.5 -177.5 0.5 -0.2 -2.4 -2.3
Increased 103167120 4 103167124 3.6 5.2 1.6 3.0 303.1 -1.3 -0.8 0.5
No change 103167085 39 103167124 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0



IVS12nt-5t>c


Instruction: a103165948g; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103165975 -31 103165944 1.1 1.1 0.0 1.0 100 -2.1 -2.1 0.0
No change 103165959 -15 103165944 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0
Decreased 103165947 -3 103165944 3.5 2.8 -0.7 -1.7 60.2 -1.4 -1.6 -0.2
No change 103165943 1 103165944 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
No change 103165903 41 103165944 4.6 4.6 0.0 1.0 100 -1.0 -1.0 0.0



IVS12nt-35c>t


Instruction: g103165978a; Sequence Walker
Type of changeGenomic CoordinatePosition Relative
to Natural Site
Closest
Natural Site
Initial(Ri)Final(Ri)Δ RiFold change% Binding (Final/Initial)Initial(Z)Final(z)Δ Z
No change 103165959 -15 103165944 2.5 2.5 0.0 1.0 100 -1.7 -1.7 0.0
No change 103165947 -3 103165944 3.5 3.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 103165943 1 103165944 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
Decreased 103165975 -31 103165944 1.1 -0.5 -1.6 -2.2 NA -2.1 -2.6 -0.5

Legend:    Site Abolished   Leaky Site   Cryptic Site created   Strengthened Pre-existing site   Pre-existing Site   Weakened Pre-existing Site