All Mutations grouped

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

+1188A>G

Instruction: t17578141c; Sequence Walker
Type of change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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 change	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
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