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	17578179	-3	17578176	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0
No change	17578109	67	17578176	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No change	17578101	75	17578176	4.1	4.1	0.0	1.0	100	-1.2	-1.2	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
No change	17554840	-239	17554601	3.0	3.0	0.0	1.0	100	-1.5	-1.5	0.0
No change	17554770	-169	17554601	3.2	3.2	0.0	1.0	100	-1.5	-1.5	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	17591880	-26	17591854	3.3	3.3	0.0	1.0	100	-1.4	-1.4	0.0
No change	17591854	0	17591854	10.9	10.9	0.0	1.0	100	0.9	0.9	0.0
No change	17591835	19	17591854	1.0	1.0	0.0	1.0	100	-2.1	-2.1	0.0
No change	17591829	25	17591854	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

+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	17593964	-9	17593955	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0
No change	17593955	0	17593955	8.1	8.1	0.0	1.0	100	0.0	0.0	0.0
No change	17593951	4	17593955	2.6	2.6	0.0	1.0	100	-1.6	-1.6	0.0
No change	17593931	24	17593955	2.7	2.7	0.0	1.0	100	-1.6	-1.6	0.0
Increased	17593970	-15	17593955	-4.8	2.7	7.5	6.5	654.8	-3.9	-1.6	2.3

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	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
Decreased	17594065	-41	17594024	1.8	0.6	-1.2	-2.3	43.3	-1.9	-2.2	-0.4
No change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	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	17594116	-92	17594024	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No change	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
Decreased	17594065	-41	17594024	1.8	0.7	-1.2	-2.2	44.7	-1.9	-2.2	-0.4
No change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	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	17594116	-92	17594024	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
No change	17594082	-58	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	17594065	-41	17594024	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No change	17594048	-24	17594024	1.7	1.7	0.0	1.0	100	-1.9	-1.9	0.0
No change	17594023	1	17594024	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0
Increased	17594071	-47	17594024	-3.7	4.6	8.2	23.5	2348.4	-3.5	-1.0	2.5

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
No change	17578179	-3	17578176	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0

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	17559131	-158	17558973	5.8	5.8	0.0	1.0	100	-0.7	-0.7	0.0
No change	17559072	-99	17558973	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0

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
No change	17592298	-54	17592244	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No change	17592289	-45	17592244	2.0	2.0	0.0	1.0	100	-1.8	-1.8	0.0
No change	17592276	-32	17592244	7.4	7.4	0.0	1.0	100	-0.2	-0.2	0.0
No change	17592221	23	17592244	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0

IVS5+1G>A

Instruction: c17587923t; 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	17587972	-49	17587923	1.4	1.4	0.0	1.0	100	-2.0	-2.0	0.0
No change	17587930	-7	17587923	7.3	7.3	0.0	1.0	100	-0.2	-0.2	0.0
No change	17587919	4	17587923	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0
No change	17587887	36	17587923	6.4	6.4	0.0	1.0	100	-0.5	-0.5	0.0
Decreased	17587923	0	17587923	7.5	-5.3	-12.8	-184.4	NA	-0.1	-4.0	-3.9

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	17587822	-80	17587742	0.4	0.4	0.0	1.0	100	-2.3	-2.3	0.0
No change	17587814	-72	17587742	7.9	7.9	0.0	1.0	100	-0.0	-0.0	0.0
No change	17587797	-55	17587742	6.4	6.4	0.0	1.0	100	-0.5	-0.5	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	17587435	18	17587453	2.2	2.2	0.0	1.0	100	-1.8	-1.8	0.0
No change	17587427	26	17587453	0.9	0.9	0.0	1.0	100	-2.2	-2.2	0.0
No change	17587421	32	17587453	4.1	4.1	0.0	1.0	100	-1.2	-1.2	0.0
No change	17587404	49	17587453	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
Decreased	17587399	54	17587453	1.3	1.0	-0.4	-1.3	75.8	-2.0	-2.1	-0.1
No change	17587383	70	17587453	0.4	0.4	0.0	1.0	100	-2.3	-2.3	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	17587180	-37	17587143	1.5	1.5	0.0	1.0	100	-2.0	-2.0	0.0
No change	17587139	4	17587143	0.6	0.6	0.0	1.0	100	-2.3	-2.3	0.0
Decreased	17587169	-26	17587143	0.5	-12.3	-12.8	-1.4	NA	-2.3	-6.2	-3.9

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	17584295	-115	17584180	3.2	3.2	0.0	1.0	100	-1.5	-1.5	0.0

Legend:

Site Abolished

Leaky Site

Cryptic Site created

Strengthened Pre-existing site

Pre-existing Site

Weakened Pre-existing Site