Missense Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.

**Synonyms:** - Exon Non-Synonymous Mutation - Exonic Non-Synonymous Mutation - Missense Mutation Abnormality - Missense Variant - Missense Variant - Mutation, Missense - Non-Synonymous Mutation - Protein Altering Variant - Protein Altering Variant - Substitution - Substitution Mutation - missense mutation