|
Type
|
Number examined
|
Sequence changes resulting in loss of ESE
|
Sequence changes resulting in altered score of ESE
|
Sequence changes resulting in gain of ESE motif
|
Total sequence changes affecting putative ESEs (%)
|
|---|
|
MS
|
17
|
5
|
7
|
1
|
13 (76.471)
|
|
UV
|
387a
|
104
|
57
|
68
|
229 (59.173)
|
|
IFD/I
|
19
|
8
|
3
|
2
|
13 (68.421)
|
|
P
|
12
|
3
|
2
|
2
|
7 (58.333)
|
|
NS
|
167
|
62
|
17
|
20
|
99 (59.281)
|
|
S
|
5
|
0
|
0
|
0
|
0 (0.000%)
|
|
Total
|
607
|
182
|
86
|
93
|
361 (59.473)
|
- aOne mutation listing in the Breast Cancer Information Core database as unclassified variant (UV) encodes a nonsense mutation. There are 386 missense UVs. ESE, exonic splicing enhancer; IFD/I, in-frame deletion/insertion; MS, missense; NS, nonsense; P, polymorphism; S, change to splicing consensus sequence.
