Splice-Site Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.

**Synonyms:** - Splice - Splice Region Variant - Splice Region Variant - Splice-Juction Mutation - Splice-Site Mutation Abnormality