Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.
Cryptic splice sites are normally unused or rarely used splice-like sequences that can become activated when normal splice sites are weakened or when regulatory conditions change. Their activation can alter RNA splicing, mRNA structure, gene expression, and protein production.
Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.
Cryptic splice sites are normally unused or rarely used splice-like sequences that can become activated when normal splice sites are weakened or when regulatory conditions change. Their activation can alter RNA splicing, mRNA structure, gene expression, and protein production.