Table 3.
Transcriptional activity of human BRCA1 unclassified variants (aa 1560–1863).
| Exon | Mutation | Activitya | Dogb | Mousec | Ratd | Nucleotidee | Base change |
Probable secondary structure elementf | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 16 | T1561I | + | A | T | T | 4801 | C to T | unknown | Durocher et al 1996 (41) |
| 16 | L1564P | + | L | L | P | 4810 | T to C | unknown | BICg |
| 20 | D1733G | + | D | E | E | 5317 | A to G | BRCT-N/BRCT-C interval | BIC |
| 20 | G1738E | − | G | G | G | 5332 | G to A | BRCT-N/BRCT-C interval | BIC |
| 23 | P1806A | + | P | P | L | 5535 | C to G | β-strand 2/β-strand 3 loop of BRCT-C | BIC |
At least ten independent clones were assayed and scored 8 hours after addition of X-gal. +: blue with same intensity as wild-type control. −: white, similar to two (F1761S; Y1769X) loss-of-function controls.
Amino acid correspond to predicted translation from canine Brca1 cDNA deposited in GenBank accession # U50709.
Amino acid correspond to predicted translation from murine Brca1 cDNA deposited in GenBank accession # U68174.
Amino acid correspond to predicted translation from rat Brca1 cDNA deposited in GenBank accession # AF036760.
Nucleotide numbering corresponds to human BRCA1 cDNA deposited in GenBank accession #U14680.
According to a BRCA1 BRCT model from ref. 36.
Breast Cancer Information Core.