This option is used to check if
a repeated sequence could be involved in the mutational event.
The repeated sequences is usually localized at each extremity
of the deletion. This situation if found habitually when a deletion
involving more than 2 nt is present. When the deletion involves
only 1 nt, it is mostly localized in a stretch of this nucleotide
(polyC for example). |
Total number of deletions: 11 (13 records) Small deletions with known sequences: 11 (13 records) Deletions involving repeated sequences: 5 (45.45 %) |
AA Position | Mutation | Repeated sequence | Number of records | Deletion Repeated sequences |
---|---|---|---|---|
77 | c.229_232delCGAC | CGAC | aggagagggccagccctgctgcacatcgacCGACatcagatccaggcagtagagcctagcgc | |
860 | c.2578_2580delCTG | TG | atatggcacaagcagggtcagcgagtattgCTGttttctcagtcaaggcagatgctggaca | |
1263 | c.3789_3790delCA | CA | aaagcttttcaaaaaatcagttggcgtgcaCAgtgtcatgaagcacgatgccatcatggat | |
500 | c.1499delC | CC | atgctgaatttgacgaaggttttaaagtgcCaggttttctgttcaaaaagctttttaagt | |
1179 | c.3535delT | TTTTT | tgggagaataaacaaatggaaaataattttTataagcacaagtcaaaaacaaaacatcat |