Solution (source code)

= Solution

Replacing the acceptor's A with C changes the canonical $3'$ <splice site> from AG to CG. \b[The predicted primary effect is impaired recognition of the exon-5 acceptor], reducing normal exon-5 inclusion. If the processing machinery instead selects exon 6, TCF-long would decrease and TCF-short would increase, removing the long-specific corepressor-interaction sequence from more of the translated products. Other outcomes are possible, including a cryptic acceptor, <intron retention>, unstable transcripts or altered total expression; the nucleotide change does not uniquely determine one mature product. Test allele-specific <RNA splicing> by junction assays and sequencing, with matched alleles or an edited endogenous locus. Unlike a repeat <indel>, this is initially a splice-site perturbation rather than necessarily a coding-region <frameshift mutation>.