Splice-Site Mutation Abnormality

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** An aberrant DNA sequence that results from a mutation in a sequence of eukaryotic DNA located in either an acceptor (3' or downstream) or donor (5' or upstream) splice site of a gene. Functional mutations in these intron-exon junctions cause incorrect RNA splicing, resulting in altered gene expression. Splice-site mutations may be heritable or occur somatically.

**Synonyms:** - Splice-Site Mutation