Gene: COL3A1
mRNA Accession: X14420
Mutation:COL3A1.txt
Chromosome: chr 2

Sequence Walker  




IVS13+2T>A


Instruction: t189820473a; 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 189820437 -35 189820472 9.2 9.2 0.0 1.0 100 0.4 0.4 0.0
No change 189820511 39 189820472 4.0 4.0 0.0 1.0 100 -1.2 -1.2 0.0
Decreased 189820472 0 189820472 6.1 -1.7 -7.8 -68.3 NA -0.6 -3.0 -2.4



IVS17+2TA>AG


Instruction: i189822832,189822835ag; 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 189822806 -26 189822832 2.3 2.3 0.0 1.0 100 -1.7 -1.7 0.0
No change 189822815 -17 189822832 2.1 2.1 0.0 1.0 100 -1.8 -1.8 0.0
No change 189822818 -14 189822832 5.1 5.1 0.0 1.0 100 -0.9 -0.9 0.0
Decreased 189822832 0 189822832 8.5 0.3 -8.2 -292.8 0.3 0.2 -2.3 -2.5



IVS36+1G>C

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 189831812 0 189831812 5.7 -4.1 -9.8 -52.0 NA -0.7 -3.7 -3.0



IVS9-2A>G


Instruction: a189819054g; 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 189819007 -48 189819055 2.6 2.6 0.0 1.0 100 -1.6 -1.6 0.0
No change 189819023 -32 189819055 1.0 1.0 0.0 1.0 100 -2.1 -2.1 0.0
Decreased 189819057 2 189819055 1.7 0.7 -1.0 -2.0 49.9 -1.9 -2.2 -0.3
No change 189819093 38 189819055 5.9 5.9 0.0 1.0 100 -0.6 -0.6 0.0

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