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 3 BRCA1 sequence variants mapping to shared or conserved ESEs

Exon	Predicted ESE	ESE location in exon	Sequence change	Class^a	Number of times reported	Shared or conserved^b	Affect on ESE^c
2	SRp55	53	T172C	M-UV	3	Conserved	Decrease
3	SRp55	41	A243G	M-UV	3	Conserved	Increase
5	SRp40	72	A330G	M	16	Conserved	Increase
6	SF2/ASF	76	G411C	M-UV	1	Shared	Increase
8	SC35	47	A609C	M-UV	1	Shared	Increase
12	SRp40	82	C4302T	NS	26	Conserved	Lose
13	SF2/ASF	1	C4305T	NS	2	Shared	Lose
16	SC35	113	4917del15	IFD	1	Shared	Lose
17	SF2/ASF	68	C5173T	M-UV	1	Shared	Lose^d
18	SF2/ASF	4	G5199T	NS	10	Shared	Lose^d
18	SC35	22	G5215T	M	1	Shared	Lose
			G5215A	M	2		Decrease
20	SRp40	14	T5326C	M-UV	6	Shared	Decrease
			A5328T	NS	1		Decrease^d
			G5331A	M-UV	4		Decrease^d
			G5332A	M-UV	2		Lose^d
			5332del3	IFD	2		Lose^d
20	SF2/ASF	15	A5328T	NS	1	Shared	Decrease^d
			G5331A	M-UV	4		Decrease^d
			G5332A	M-UV	2		Decrease^d
			5332del3	IFD	2		Lose^d
20	SRp40	29	T5341G	M-UV	3	Shared	Lose

^aClassification in Breast Cancer Information Core database: IFD, in-frame deletion; M, missense; M-UV, missense unclassified sequence variant; NS, nonsense. ^bExonic splicing enhancers (ESEs) shared or conserved between human, primates, mouse, cow, dog and opossum. ^cLose, loss of predicted ESE motif; increase, retain ESE motif with higher score; decrease, retain ESE motif with lower score. ^dAlter additional other ESE motifs.

ISSN: 1465-542X