All Mutations grouped

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

1275G>A

Instruction: g29383170a; 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	29383155	0	29383155	11.1	11.1	0.0	1.0	100	0.5	0.5	0.0
No change	29383159	4	29383155	1.0	1.0	0.0	1.0	100	-1.7	-1.7	0.0
No change	29383162	7	29383155	1.1	1.1	0.0	1.0	100	-1.7	-1.7	0.0
No change	29383164	9	29383155	1.1	1.1	0.0	1.0	100	-1.7	-1.7	0.0

1465-1466insC

Instruction: i29389901,29389902c; 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	29389918	-1448	29391366	0.1	0.2	0.1	1.1	105.1	-1.9	-1.9	0.0
No change	29389950	-1416	29391366	1.2	1.2	0.0	1.0	100	-1.7	-1.7	0.0
Increased	29389903	-1463	29391366	-0.0	2.9	2.9	7.3	729.4	-1.9	-1.3	0.6

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
Decreased	29391461	-41	29391502	1.1	0.5	-0.7	-1.6	62.7	-1.7	-1.8	-0.1
No change	29391481	-21	29391502	1.1	1.1	0.0	1.0	100	-1.7	-1.7	0.0
Decreased	29391462	-40	29391502	0.2	-0.3	-0.4	-1.1	NA	-1.9	-2.0	-0.1
Decreased	29391463	-39	29391502	0.1	-0.2	-0.3	-1.0	NA	-1.9	-2.0	-0.1

1570G>T

Instruction: g29395963t; 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	29395998	78	29395920	2.0	2.0	0.0	1.0	100	-1.5	-1.5	0.0
No change	29396011	91	29395920	1.8	1.8	0.0	1.0	100	-1.5	-1.5	0.0
Increased	29395975	55	29395920	-1.3	0.7	2.0	1.6	162.0	-2.2	-1.8	0.4

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
Increased	29395998	-37	29396035	2.0	2.4	0.5	1.4	138.3	-1.5	-1.4	0.1
Decreased	29396011	-24	29396035	1.8	-0.2	-2.0	-3.5	NA	-1.5	-2.0	-0.4

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
Increased	29401325	-2025	29403350	5.5	6.3	0.8	1.7	171.4	-0.7	-0.6	0.2
Increased	29401334	-2016	29403350	9.8	9.9	0.0	1.0	101.2	0.2	0.2	0.0
No change	29401361	-1989	29403350	4.3	4.3	0.0	1.0	100	-1.0	-1.0	0.0
No change	29401367	-1983	29403350	1.6	1.6	0.0	1.0	100	-1.6	-1.6	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
Decreased	29335970	-40	29336010	5.1	3.4	-1.7	-3.2	31.6	-0.8	-1.2	-0.4

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
Increased	29406073	133	29405940	1.6	3.3	1.7	3.2	315.6	-1.6	-1.2	0.4
Increased	29406074	134	29405940	0.9	1.2	0.3	1.2	121.4	-1.7	-1.7	0.1
Increased	29406093	153	29405940	2.1	2.1	0.0	1.0	103.5	-1.5	-1.5	0.0
No change	29406122	182	29405940	1.2	1.2	0.0	1.0	100	-1.7	-1.7	0.0
Decreased	29406090	150	29405940	0.2	-0.1	-0.3	-1.1	NA	-1.9	-2.0	-0.1

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	29335970	-40	29336010	5.1	5.1	0.0	1.0	100	-0.8	-0.8	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	29406750	0	29406750	12.8	12.8	0.0	1.0	100	0.9	0.9	0.0
No change	29406751	1	29406750	0.3	0.3	0.0	1.0	100	-1.9	-1.9	0.0
No change	29406759	9	29406750	1.4	1.4	0.0	1.0	100	-1.6	-1.6	0.0
No change	29406763	13	29406750	1.1	1.1	0.0	1.0	100	-1.7	-1.7	0.0
Increased	29406784	34	29406750	2.0	2.5	0.6	1.5	149.8	-1.5	-1.4	0.1

2887C>T

Instruction: c29406787t; 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	29406759	9	29406750	1.4	1.4	0.0	1.0	100	-1.6	-1.6	0.0
No change	29406763	13	29406750	1.1	1.1	0.0	1.0	100	-1.7	-1.7	0.0
No change	29406784	34	29406750	2.0	2.0	0.0	1.0	100	-1.5	-1.5	0.0

2887C>T
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	29403792	-2958	29406750	-0.4	0.5	0.9	1.4	136.9	-2.0	-1.8	0.2

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
No change	29409106	0	29409106	0.6	0.6	0.0	1.0	100	-1.8	-1.8	0.0
No change	29409116	10	29409106	1.4	1.4	0.0	1.0	100	-1.6	-1.6	0.0
Decreased	29409046	-60	29409106	1.0	-19.2	-20.3	-2.0	NA	-1.7	-6.1	-4.4
Decreased	29409049	-57	29409106	9.8	-17.5	-27.3	-920.7	NA	0.2	-5.8	-6.0
Decreased	29409056	-50	29409106	3.4	-26.3	-29.7	-10.6	NA	-1.2	-7.7	-6.5

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
No change	29409046	-60	29409106	1.0	1.0	0.0	1.0	100	-1.7	-1.7	0.0
No change	29409049	-57	29409106	9.8	9.8	0.0	1.0	100	0.2	0.2	0.0
No change	29409056	-50	29409106	3.4	3.4	0.0	1.0	100	-1.2	-1.2	0.0
No change	29409106	0	29409106	0.6	0.6	0.0	1.0	100	-1.8	-1.8	0.0
No change	29409116	10	29409106	1.4	1.4	0.0	1.0	100	-1.6	-1.6	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	2.5	2.5	0.0	1.0	100	-1.4	-1.4	0.0

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	29409912	-5	29409917	0.0	0.0	0.0	1.0	100	-1.9	-1.9	0.0
No change	29409917	0	29409917	5.5	5.5	0.0	1.0	100	-0.7	-0.7	0.0
No change	29409923	6	29409917	2.3	2.3	0.0	1.0	100	-1.4	-1.4	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
Decreased	29412647	-42	29412689	1.7	1.4	-0.3	-1.2	82.3	-1.6	-1.6	-0.1
Increased	29412654	-35	29412689	2.1	2.8	0.7	1.6	160.4	-1.5	-1.3	0.1
No change	29412688	-1	29412689	2.7	2.7	0.0	1.0	100	-1.3	-1.3	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	29425980	-56	29426036	3.1	3.1	0.0	1.0	100	-1.3	-1.3	0.0
No change	29425991	-45	29426036	8.6	8.6	0.0	1.0	100	-0.1	-0.1	0.0
No change	29426005	-31	29426036	0.4	0.4	0.0	1.0	100	-1.8	-1.8	0.0
Increased	29426013	-23	29426036	3.6	4.2	0.6	1.5	154.9	-1.1	-1.0	0.1
No change	29426035	-1	29426036	4.5	4.5	0.0	1.0	100	-0.9	-0.9	0.0
No change	29426047	11	29426036	3.5	3.5	0.0	1.0	100	-1.2	-1.2	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	29438626	0	29438626	4.9	4.9	0.0	1.0	100	-0.9	-0.9	0.0
No change	29438697	71	29438626	7.6	7.6	0.0	1.0	100	-0.3	-0.3	0.0
No change	29438699	73	29438626	0.3	0.3	0.0	1.0	100	-1.9	-1.9	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	29346859	-55	29346914	1.2	1.2	0.0	1.0	100	-1.7	-1.7	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
Decreased	29357756	-581	29358337	0.0	0.0	-0.0	-1.0	99.8	-1.9	-1.9	-0.0
No change	29357774	-563	29358337	1.4	1.4	0.0	1.0	100	-1.6	-1.6	0.0
Decreased	29357735	-602	29358337	7.3	-1.0	-8.3	-158.9	NA	-0.3	-2.1	-1.8

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	29359615	33	29359582	4.5	0.0	-4.5	-22.7	4.4	-1.0	0.0	1.0
Increased	29359734	152	29359582	0.0	4.5	4.5	22.7	2271.6	0.0	-1.0	-1.0

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	29377337	0	29377337	5.7	5.7	0.0	1.0	100	-0.7	-0.7	0.0
No change	29377354	17	29377337	0.6	0.6	0.0	1.0	100	-1.8	-1.8	0.0
Decreased	29377383	46	29377337	0.2	0.1	-0.1	-1.1	92.3	-1.9	-1.9	-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	29376326	-1011	29377337	1.3	1.3	0.0	1.0	100	-1.7	-1.7	0.0
No change	29376332	-1005	29377337	2.2	2.2	0.0	1.0	100	-1.5	-1.5	0.0
Decreased	29376365	-972	29377337	4.3	3.9	-0.5	-1.4	72.5	-1.0	-1.1	-0.1
No change	29376397	-940	29377337	2.5	2.5	0.0	1.0	100	-1.4	-1.4	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
No change	29400458	-26	29400484	1.2	1.2	0.0	1.0	100	-1.7	-1.7	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	29400386	27	29400359	3.8	3.8	0.0	1.0	100	-1.1	-1.1	0.0
No change	29400387	28	29400359	3.5	3.5	0.0	1.0	100	-1.2	-1.2	0.0
Decreased	29400359	0	29400359	5.9	-16.6	-22.6	-61.8	NA	-0.6	-5.6	-4.9

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	29409912	-5	29409917	0.0	0.0	0.0	1.0	100	-1.9	-1.9	0.0
Increased	29409923	6	29409917	2.3	4.3	2.0	3.9	391.8	-1.4	-1.0	0.4
Decreased	29409917	0	29409917	5.5	-1.9	-7.4	-45.9	NA	-0.7	-2.4	-1.6
Increased	29409934	17	29409917	-0.6	0.5	1.1	1.4	142.5	-2.1	-1.8	0.2

Legend:

Site Abolished

Leaky Site

Cryptic Site created

Strengthened Pre-existing site

Pre-existing Site

Weakened Pre-existing Site