What is another word for splice site mutation?
Pronunciation: [splˈa͡ɪs sˈa͡ɪt mjuːtˈe͡ɪʃən] (IPA) 
A splice site mutation refers to an alteration in the DNA sequence that affects the junction between two exons in a gene. This change can lead to abnormal RNA splicing, which can cause genetic diseases like cancer, cystic fibrosis, and Thalassemia. Synonyms for the term include intron-exon boundary mutation, splice mutation, and splicing mutation. These mutations can be either synonymous, where there is no change in the amino acid sequence of the protein, or non-synonymous, where there is a change in the amino acid sequence leading to a different protein. Studying splice site mutations is an important aspect of genetic research and can provide insights into the mechanisms of gene expression and regulation.
