Table 1. BRIP1 sequence alterations.
| Exon/Intron | Nucleotide changea | Effect on protein | Allele frequency b (%) |
|---|---|---|---|
| Intron 5 | IVS5-31C>G | unknown | 1/98 (1%) |
| Exon 19 | 2637G>A | Glu879Glu | 32/98 (33%) |
| Exon 19 | 2755C>T | Pro919Ser | 48/98 (49%) |
| Exon 20 | 2992-2995delAAGA | Glu998fsX1057 | 1/98 (1%) |
| Exon 20 | 3411C>T | Tyr1137Tyr | 81/98 (83%) |
a
Numbering based on RefSeq NT_010783.13 (for the intronic variant) and NM_032043 (for all the variants within the coding region). For exonic variants, numbering starts at codon 1.
b
Frequency of second allele listed.