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7.0 years ago
lamteva.vera
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Is the impact of a frameshift mutation restricted to spoiling the exon in which it occurs but not the intronic sequences or next exones?
Indeed, it is very difficult to predict the effects of frameshift mutations, and even non-frameshifts. A frameshift in a single exon could potentially open up an entire new transcript isoform by extending the coding region further into what were originally introns (depending on the sequence).
There are likely a whole bunch of consequences of frameshifts that we don't yet fully understand.
An interesting example of the consequences of frameshift mutation:
"This duplication of one nucleotide in BRCA2 is denoted c.9253dupA at the cDNA level and p.Thr3085AsnfsX26 (T3085NfsX26) at the protein level. The normal sequence, with the bases that are duplicated in braces, is GAAAAAA[A]CAGG. The duplication causes a frameshift, which changes a Threonine to an Asparagine at codon 3085, and creates a premature stop codon at position 26 of the new reading frame" [ClinVar]