All Mutations grouped

Gene:	NF1
mRNA Accession:	M82814
Mutation:	NF1.txt
Chromosome:	chr 17
Sequence Walker

1275G>A
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	29383170	15	29383155	0.1	-12.7	-12.8	-1.1	NA	-2.4	-6.3	-3.9

1318C>T

Instruction: c29383213t; 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	29383170	15	29383155	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
No change	29383226	71	29383155	3.3	3.3	0.0	1.0	100	-1.4	-1.4	0.0
No change	29383253	98	29383155	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0

1381C>T

Instruction: c29383276t; 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	29383226	-62	29383288	3.3	3.3	0.0	1.0	100	-1.4	-1.4	0.0
No change	29383253	-35	29383288	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	29383288	0	29383288	8.6	8.6	0.0	1.0	100	0.2	0.2	0.0

1466A>G

Instruction: a29391440g; 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	29391444	-58	29391502	0.5	0.5	0.0	1.0	100	-2.3	-2.3	0.0
No change	29391463	-39	29391502	4.7	4.7	0.0	1.0	100	-1.0	-1.0	0.0
Increased	29391440	-62	29391502	-6.6	6.2	12.8	75.2	7522.0	-4.4	-0.5	3.9

1607C>A

Instruction: c29396000a; 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	29396035	0	29396035	10.8	10.8	0.0	1.0	100	0.8	0.8	0.0
Increased	29395998	-37	29396035	-4.5	0.3	4.8	1.2	123.3	-3.8	-2.3	1.5

2033-2034insC

Instruction: i29401317,29401318c; 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	29401269	-2081	29403350	2.4	2.4	0.0	1.0	100	-1.7	-1.7	0.0
No change	29401286	-2064	29403350	1.1	1.1	0.0	1.0	100	-2.1	-2.1	0.0
No change	29401302	-2048	29403350	4.6	4.6	0.0	1.0	100	-1.0	-1.0	0.0

247C>T

Instruction: c29335968t; 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	29335921	-89	29336010	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
No change	29336010	0	29336010	9.3	9.3	0.0	1.0	100	0.4	0.4	0.0
No change	29336014	4	29336010	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0
Decreased	29335971	-39	29336010	0.6	-1.0	-1.6	-1.5	NA	-2.2	-2.7	-0.5

2540T>C

Instruction: t29406071c; 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	29406037	97	29405940	0.6	0.6	0.0	1.0	100	-2.2	-2.2	0.0
No change	29406075	135	29405940	0.6	0.6	0.0	1.0	100	-2.2	-2.2	0.0
No change	29406079	139	29405940	1.1	1.1	0.0	1.0	100	-2.1	-2.1	0.0

278G>A

Instruction: g29335999a; 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	29335971	-39	29336010	0.6	0.6	0.0	1.0	100	-2.2	-2.2	0.0
No change	29336010	0	29336010	9.3	9.3	0.0	1.0	100	0.4	0.4	0.0
No change	29336014	4	29336010	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0
No change	29336029	19	29336010	4.1	4.1	0.0	1.0	100	-1.2	-1.2	0.0
No change	29336042	32	29336010	1.2	1.2	0.0	1.0	100	-2.1	-2.1	0.0

2875C>T

Instruction: c29406775t; 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	29406732	-18	29406750	2.6	2.6	0.0	1.0	100	-1.6	-1.6	0.0

2970-2972delAAT

Instruction: d29403779,29403781; 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	29403742	-3008	29406750	7.4	7.4	0.0	1.0	100	-0.2	-0.2	0.0
Decreased	29403776	-2974	29406750	2.4	-4.6	-7.0	-5.4	NA	-1.7	-3.8	-2.1

3193delC

Instruction: d29407837,29407837; 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	29407825	-17	29407842	2.6	2.6	0.0	1.0	100	-1.6	-1.6	0.0
No change	29407842	0	29407842	7.5	7.5	0.0	1.0	100	-0.2	-0.2	0.0
No change	29407864	22	29407842	1.5	1.5	0.0	1.0	100	-2.0	-2.0	0.0
No change	29407870	28	29407842	2.5	2.5	0.0	1.0	100	-1.7	-1.7	0.0
No change	29407882	40	29407842	5.6	5.6	0.0	1.0	100	-0.7	-0.7	0.0

3274del40

Instruction: d29409026,29409065; 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	29409066	-40	29409106	5.7	1.3	-4.4	-21.1	4.7	-0.7	-2.0	-1.3
No change	29409106	0	29409106	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0

3277G>A

Instruction: g29409068a; 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	29409066	-40	29409106	5.7	6.1	0.4	1.3	131.9	-0.7	-0.6	0.1
No change	29409106	0	29409106	4.0	4.0	0.0	1.0	100	-1.2	-1.2	0.0

3367G>T

Instruction: g29409668t; 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	29409654	39	29409615	0.8	0.8	0.0	1.0	100	-2.2	-2.2	0.0
No change	29409672	57	29409615	4.6	4.6	0.0	1.0	100	-1.0	-1.0	0.0
No change	29409684	69	29409615	4.6	4.6	0.0	1.0	100	-1.0	-1.0	0.0
Decreased	29409668	53	29409615	0.9	-6.9	-7.8	-1.8	NA	-2.2	-4.5	-2.4

3520C>T

Instruction: c29409941t; 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	29409924	7	29409917	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

3826C>T

Instruction: c29412644t; 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	29412611	-78	29412689	0.3	0.3	0.0	1.0	100	-2.3	-2.3	0.0
No change	29412663	-26	29412689	2.0	2.0	0.0	1.0	100	-1.8	-1.8	0.0
No change	29412689	0	29412689	5.0	5.0	0.0	1.0	100	-0.9	-0.9	0.0

4084C>T

Instruction: c29426009t; 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	29426013	-23	29426036	5.4	5.4	0.0	1.0	100	-0.8	-0.8	0.0
No change	29426015	-21	29426036	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0
No change	29426036	0	29426036	7.7	7.7	0.0	1.0	100	-0.1	-0.1	0.0
No change	29426047	11	29426036	1.8	1.8	0.0	1.0	100	-1.9	-1.9	0.0

4537C>T

Instruction: c29438649t; 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	29438609	-17	29438626	1.1	1.1	0.0	1.0	100	-2.1	-2.1	0.0

560G>A

Instruction: g29346887a; 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	29346870	-44	29346914	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No change	29346880	-34	29346914	2.2	2.2	0.0	1.0	100	-1.8	-1.8	0.0
No change	29346914	0	29346914	9.8	9.8	0.0	1.0	100	0.5	0.5	0.0
No change	29346926	12	29346914	0.5	0.5	0.0	1.0	100	-2.3	-2.3	0.0

574C>T

Instruction: c29346901t; 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	29346870	-44	29346914	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0
No change	29346880	-34	29346914	2.2	2.2	0.0	1.0	100	-1.8	-1.8	0.0
No change	29346914	0	29346914	9.8	9.8	0.0	1.0	100	0.5	0.5	0.0
No change	29346926	12	29346914	0.5	0.5	0.0	1.0	100	-2.3	-2.3	0.0

603-604insT

Instruction: i29357734,29357735t; 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	29357691	-646	29358337	2.3	2.3	0.0	1.0	100	-1.7	-1.7	0.0
No change	29357698	-639	29358337	3.4	3.4	0.0	1.0	100	-1.4	-1.4	0.0
No change	29357747	-590	29358337	2.5	2.5	0.0	1.0	100	-1.7	-1.7	0.0

888del174
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	29359555	-27	29359582	1.0	-17.6	-18.7	-2.1	NA	-2.1	-7.8	-5.7
Decreased	29359582	0	29359582	11.4	0.0	-11.4	-2618.7	0.0	1.0	0.0	-1.0
Decreased	29359587	5	29359582	0.4	0.0	-0.4	-1.3	75.8	-2.3	0.0	2.3
Decreased	29359618	36	29359582	2.9	0.0	-2.9	-7.5	13.3	-1.6	0.0	1.6
Increased	29359706	124	29359582	0.0	0.4	0.4	1.3	131.8	0.0	-2.3	-2.3
Increased	29359737	155	29359582	0.0	2.9	2.9	7.5	747.7	0.0	-1.6	-1.6

910C>T

Instruction: c29377359t; 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	29377387	50	29377337	4.5	4.5	0.0	1.0	100	-1.1	-1.1	0.0
No change	29377401	64	29377337	0.1	0.1	0.0	1.0	100	-2.4	-2.4	0.0
No change	29377405	68	29377337	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

987-988insA

Instruction: i29376350,29376351a; 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	29376354	-983	29377337	0.5	0.5	0.0	1.0	100	-2.3	-2.3	0.0
No change	29376377	-960	29377337	0.7	0.7	0.0	1.0	100	-2.2	-2.2	0.0

IVS16+3del6

Instruction: d29400486,29400491; 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	29400484	0	29400484	11.2	7.4	-3.7	-13.2	7.5	1.0	-0.2	-1.1
No change	29400529	45	29400484	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0

IVS16-6del4

Instruction: d29400354,29400357; 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	29400317	-42	29400359	3.1	3.1	0.0	1.0	100	-1.5	-1.5	0.0
No change	29400333	-26	29400359	2.0	2.0	0.0	1.0	100	-1.8	-1.8	0.0
Increased	29400351	-8	29400359	-5.8	0.7	6.5	1.6	162.5	-4.2	-2.2	2.0

IVS26-2A>T

Instruction: a29409916t; 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	29409885	-32	29409917	4.9	4.9	0.0	1.0	100	-0.9	-0.9	0.0
No change	29409889	-28	29409917	1.9	1.9	0.0	1.0	100	-1.9	-1.9	0.0
No change	29409924	7	29409917	1.3	1.3	0.0	1.0	100	-2.0	-2.0	0.0

Legend:

Site Abolished

Leaky Site

Cryptic Site created

Strengthened Pre-existing site

Pre-existing Site

Weakened Pre-existing Site