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Table 2 Known BRCA1 sequence changes affecting potential ESEs in the BRCA1 open reading frame

From: Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1gene with missense sequence changes and in-frame deletions, but not polymorphisms

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)
  1. 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.