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Table 3 BRCA1 sequence variants mapping to shared or conserved ESEs

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

Exon Predicted ESE ESE location in exon Sequence change Classa Number of times reported Shared or conservedb Affect on ESEc
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 Losed
18 SF2/ASF 4 G5199T NS 10 Shared Losed
18 SC35 22 G5215T M 1 Shared Lose
    G5215A M 2   Decrease
20 SRp40 14 T5326C M-UV 6 Shared Decrease
    A5328T NS 1   Decreased
    G5331A M-UV 4   Decreased
    G5332A M-UV 2   Losed
    5332del3 IFD 2   Losed
20 SF2/ASF 15 A5328T NS 1 Shared Decreased
    G5331A M-UV 4   Decreased
    G5332A M-UV 2   Decreased
    5332del3 IFD 2   Losed
20 SRp40 29 T5341G M-UV 3 Shared Lose
  1. 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.