Please explain the nucleotide change for mutation p.F508del and mutation p.I507del?
The nucleotide change of p.F508del – “deletion of three bp between nucleotides 1519 to 1524” means any 3 consecutive nucleotides in this range of 4 nucleotides: either T(1520)C(1521)T(1522) or C(1521)T(1522)T(1523). Both 3 bp deletions lead to the same DNA sequence: A(1519)TTT(1524)G(1525). The p.I507del is much easier to understand because of the two consecutive isoleucine codons (ATC) between nucleotides 1515 and 1522 e.g. A(1516)T(1517)C(1518) – A(1519)T(1520)C(1521). Deletion of any of 4 consecutive 3b in this range (1516-1521) would produce the same sequence.
Related Questions
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