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

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

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	387^a	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.

ISSN: 1465-542X