Protein Truncation Abnormality

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein.

**Synonyms:** - Protein Truncation - Truncation