Gene: USH1C
mRNA Accession: BC016057
Mutation:USH1C.txt
Chromosome: chr 11

Sequence Walker  




+1188A>G


Instruction: t17578141c; 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 17578168 8 17578176 2.2 2.2 0.0 1.0 100 -1.5 -1.5 0.0
Decreased 17578140 36 17578176 1.6 -6.5 -8.2 -3.1 NA -1.6 -3.4 -1.8



+1737T>C


Instruction: a17554930g; 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 17554921 157 17555078 3.5 2.9 -0.6 -1.5 66.7 -1.2 -1.3 -0.1
No change 17554890 188 17555078 5.5 5.5 0.0 1.0 100 -0.7 -0.7 0.0



+1877C>T


Instruction: g17554790a; 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
Increased 17554776 -175 17554601 5.0 5.4 0.4 1.3 130.0 -0.8 -0.8 0.1
Increased 17554775 -174 17554601 2.1 2.3 0.2 1.2 116.1 -1.5 -1.4 0.0
Increased 17554770 -169 17554601 10.0 10.1 0.2 1.1 111.8 0.2 0.3 0.0
No change 17554751 -150 17554601 5.5 5.5 0.0 1.0 100 -0.7 -0.7 0.0



+381G>T


Instruction: c17591861a; 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 17591884 -30 17591854 5.8 5.8 0.0 1.0 100 -0.7 -0.7 0.0
Increased 17591855 -1 17591854 -0.1 2.1 2.2 4.4 436.2 -2.0 -1.5 0.5



+91C>T


Instruction: g17593969a; 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 17593937 18 17593955 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0



IVS1-41insCC


Instruction: i17594063,17594064gg; 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 17594085 -61 17594024 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
No change 17594083 -59 17594024 3.7 3.7 0.0 1.0 100 -1.1 -1.1 0.0
No change 17594024 0 17594024 8.6 8.6 0.0 1.0 100 -0.1 -0.1 0.0



IVS1-45C>G


Instruction: g17594068c; 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 17594085 -61 17594024 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
No change 17594083 -59 17594024 3.7 3.7 0.0 1.0 100 -1.1 -1.1 0.0
No change 17594024 0 17594024 8.6 8.6 0.0 1.0 100 -0.1 -0.1 0.0



IVS1-47G>T


Instruction: c17594070a; 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 17594085 -61 17594024 0.2 0.2 0.0 1.0 100 -1.9 -1.9 0.0
No change 17594083 -59 17594024 3.7 3.7 0.0 1.0 100 -1.1 -1.1 0.0
No change 17594024 0 17594024 8.6 8.6 0.0 1.0 100 -0.1 -0.1 0.0



IVS13-108A>G


Instruction: t17578283c; 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 17578298 -122 17578176 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
No change 17578291 -115 17578176 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
No change 17578289 -113 17578176 9.4 9.4 0.0 1.0 100 0.1 0.1 0.0
Decreased 17578278 -102 17578176 1.3 1.2 -0.2 -1.1 89.4 -1.6 -1.7 -0.0



IVS13-45A>G


Instruction: t17578220c; 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 17578218 -42 17578176 2.2 0.5 -1.7 -3.3 29.8 -1.5 -1.8 -0.4
Decreased 17578200 -24 17578176 8.9 8.6 -0.3 -1.2 81.8 0.0 -0.1 -0.1
No change 17578181 -5 17578176 8.2 8.2 0.0 1.0 100 -0.1 -0.1 0.0
No change 17578180 -4 17578176 6.6 6.6 0.0 1.0 100 -0.5 -0.5 0.0
No change 17578176 0 17578176 9.2 9.2 0.0 1.0 100 0.1 0.1 0.0
No change 17578168 8 17578176 2.2 2.2 0.0 1.0 100 -1.5 -1.5 0.0
Decreased 17578219 -43 17578176 1.0 -7.2 -8.2 -2.0 NA -1.7 -3.5 -1.8



IVS17-113A>G


Instruction: t17559085c; 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 17559105 -132 17558973 1.7 1.7 0.0 1.0 100 -1.6 -1.6 0.0
No change 17559103 -130 17558973 2.7 2.7 0.0 1.0 100 -1.4 -1.4 0.0
No change 17559098 -125 17558973 1.5 1.5 0.0 1.0 100 -1.6 -1.6 0.0
No change 17559096 -123 17558973 1.2 1.2 0.0 1.0 100 -1.7 -1.7 0.0
Increased 17559086 -113 17558973 3.6 4.6 1.0 1.9 193.9 -1.2 -0.9 0.2
Decreased 17559079 -106 17558973 1.8 1.8 -0.1 -1.0 95.7 -1.5 -1.6 -0.0
No change 17559034 -61 17558973 0.9 0.9 0.0 1.0 100 -1.7 -1.7 0.0
Increased 17559073 -100 17558973 -0.2 0.3 0.5 1.2 120.0 -2.0 -1.9 0.1



IVS2-16C>T


Instruction: g17592259a; 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
Increased 17592244 0 17592244 7.1 7.4 0.2 1.2 116.1 -0.4 -0.3 0.0



IVS6-45delC


Instruction: d17587786,17587786; 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 17587745 -3 17587742 2.8 2.8 0.0 1.0 100 -1.3 -1.3 0.0
No change 17587742 0 17587742 12.6 12.6 0.0 1.0 100 0.8 0.8 0.0



IVS7+61G>A


Instruction: c17587393t; 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 17587354 99 17587453 1.6 1.6 0.0 1.0 100 -1.6 -1.6 0.0
No change 17587341 112 17587453 1.9 1.9 0.0 1.0 100 -1.5 -1.5 0.0



IVS7-27G>A


Instruction: c17587169t; 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 17587143 0 17587143 13.9 13.9 0.0 1.0 100 1.1 1.1 0.0
No change 17587142 1 17587143 2.0 2.0 0.0 1.0 100 -1.5 -1.5 0.0



IVS9-66T>C


Instruction: a17584245g; 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 17584262 -82 17584180 0.6 0.6 0.0 1.0 100 -1.8 -1.8 0.0
Decreased 17584236 -56 17584180 4.3 3.7 -0.6 -1.5 66.7 -1.0 -1.1 -0.1

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