Gene: CTNS
mRNA Accession: AJ222967
Mutation:CTNS.txt
Chromosome: chr 17

Sequence Walker  




340A>C


Instruction: a3494310c; 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 3494289 -1 3494290 2.5 2.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 3494290 0 3494290 13.1 13.1 0.0 1.0 100 0.9 0.9 0.0
No change 3494295 5 3494290 4.0 4.0 0.0 1.0 100 -1.1 -1.1 0.0
No change 3494297 7 3494290 5.3 5.3 0.0 1.0 100 -0.8 -0.8 0.0
No change 3494351 61 3494290 6.6 6.6 0.0 1.0 100 -0.5 -0.5 0.0
No change 3494353 63 3494290 2.8 2.8 0.0 1.0 100 -1.3 -1.3 0.0
No change 3494354 64 3494290 11.8 11.8 0.0 1.0 100 0.6 0.6 0.0
No change 3494361 71 3494290 6.3 6.3 0.0 1.0 100 -0.6 -0.6 0.0



342G>A


Instruction: g3494312a; 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 3494289 -1 3494290 2.5 2.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 3494290 0 3494290 13.1 13.1 0.0 1.0 100 0.9 0.9 0.0
No change 3494295 5 3494290 4.0 4.0 0.0 1.0 100 -1.1 -1.1 0.0
No change 3494297 7 3494290 5.3 5.3 0.0 1.0 100 -0.8 -0.8 0.0
No change 3494351 61 3494290 6.6 6.6 0.0 1.0 100 -0.5 -0.5 0.0
No change 3494353 63 3494290 2.8 2.8 0.0 1.0 100 -1.3 -1.3 0.0
No change 3494354 64 3494290 11.8 11.8 0.0 1.0 100 0.6 0.6 0.0
No change 3494361 71 3494290 6.3 6.3 0.0 1.0 100 -0.6 -0.6 0.0



354G>A


Instruction: g3494324a; 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 3494295 5 3494290 4.0 4.0 0.0 1.0 100 -1.1 -1.1 0.0
No change 3494297 7 3494290 5.3 5.3 0.0 1.0 100 -0.8 -0.8 0.0
No change 3494351 61 3494290 6.6 6.6 0.0 1.0 100 -0.5 -0.5 0.0
No change 3494353 63 3494290 2.8 2.8 0.0 1.0 100 -1.3 -1.3 0.0
No change 3494354 64 3494290 11.8 11.8 0.0 1.0 100 0.6 0.6 0.0
No change 3494361 71 3494290 6.3 6.3 0.0 1.0 100 -0.6 -0.6 0.0



564+1G>A


Instruction: g3503035a; 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 3503029 -6 3503035 0.4 0.4 0.0 1.0 100 -1.9 -1.9 0.0
Decreased 3503035 0 3503035 1.1 -6.5 -7.6 -2.1 NA -1.7 -3.4 -1.7



1004A>G


Instruction: a3510882g; 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 3510924 25 3510899 5.2 5.2 0.0 1.0 100 -0.8 -0.8 0.0
No change 3510934 35 3510899 1.9 1.9 0.0 1.0 100 -1.5 -1.5 0.0
Decreased 3510883 -16 3510899 4.1 -4.1 -8.2 -16.8 NA -1.0 -2.8 -1.8



1020G>A


Instruction: g3510898a; 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 3510883 -16 3510899 4.1 4.1 0.0 1.0 100 -1.0 -1.0 0.0
No change 3510924 25 3510899 5.2 5.2 0.0 1.0 100 -0.8 -0.8 0.0
No change 3510934 35 3510899 1.9 1.9 0.0 1.0 100 -1.5 -1.5 0.0



1192-2A>G


Instruction: a3513959g; 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 3513954 -6 3513960 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
Decreased 3513960 0 3513960 7.9 -0.2 -8.2 -244.2 NA -0.2 -2.0 -1.8



1203C>A


Instruction: c3513972a; 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 3513954 -6 3513960 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
No change 3513960 0 3513960 7.9 7.9 0.0 1.0 100 -0.2 -0.2 0.0



1386-1387ins12

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 3512973 -1365 3514338 0.5 0.0 -0.5 -1.4 71.3 -1.8 0.0 1.8



668G>T


Instruction: g3509204t; 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 3509181 -24 3509205 0.4 0.4 0.0 1.0 100 -1.9 -1.9 0.0
Increased 3509219 14 3509205 0.1 1.4 1.3 2.5 251.4 -1.9 -1.6 0.3



869A>C


Instruction: a3510658c; 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 3510649 -41 3510690 3.6 3.6 0.0 1.0 100 -1.1 -1.1 0.0
No change 3510689 -1 3510690 3.2 3.2 0.0 1.0 100 -1.2 -1.2 0.0



938C>T


Instruction: c3510816t; 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 3510843 65 3510778 2.5 2.5 0.0 1.0 100 -1.4 -1.4 0.0
No change 3510850 72 3510778 1.7 1.7 0.0 1.0 100 -1.6 -1.6 0.0

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