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

Sequence Walker  




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 3494368 78 3494290 0.8 0.8 0.0 1.0 100 -2.2 -2.2 0.0
No change 3494371 81 3494290 8.9 8.9 0.0 1.0 100 0.3 0.3 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 3503039 4 3503035 2.7 2.7 0.0 1.0 100 -1.6 -1.6 0.0
No change 3503060 25 3503035 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
No change 3503075 40 3503035 6.0 6.0 0.0 1.0 100 -0.6 -0.6 0.0
Decreased 3503035 0 3503035 8.5 -4.3 -12.8 -367.1 NA 0.2 -3.7 -3.9



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 3510892 -7 3510899 3.1 3.1 0.0 1.0 100 -1.5 -1.5 0.0
No change 3510899 0 3510899 9.4 9.4 0.0 1.0 100 0.4 0.4 0.0
Increased 3510878 -21 3510899 -2.3 1.2 3.5 2.3 227.6 -3.1 -2.1 1.1
Increased 3510883 -16 3510899 -2.3 0.7 3.1 1.7 165.3 -3.1 -2.2 0.9



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
Decreased 3510892 -7 3510899 3.1 2.7 -0.4 -1.3 75.8 -1.5 -1.6 -0.1
Decreased 3510899 0 3510899 9.4 6.3 -3.1 -8.3 12.0 0.4 -0.5 -0.9



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 3513000 -1338 3514338 5.3 0.0 -5.3 -38.6 2.5 -0.8 0.0 0.8



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 3509155 -50 3509205 0.4 0.4 0.0 1.0 100 -2.3 -2.3 0.0
Decreased 3509205 0 3509205 5.9 2.6 -3.3 -10.0 10.0 -0.6 -1.6 -1.0
No change 3509221 16 3509205 5.8 5.8 0.0 1.0 100 -0.7 -0.7 0.0
No change 3509223 18 3509205 1.7 1.7 0.0 1.0 100 -1.9 -1.9 0.0
No change 3509236 31 3509205 2.8 2.8 0.0 1.0 100 -1.6 -1.6 0.0



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 3510690 0 3510690 8.1 8.1 0.0 1.0 100 0.0 0.0 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 3510809 31 3510778 0.7 0.7 0.0 1.0 100 -2.2 -2.2 0.0
Decreased 3510818 40 3510778 1.3 1.2 -0.1 -1.1 93.5 -2.0 -2.1 -0.0

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