Premature termination codon Arg-TGA

A premature termination codon (PTC) arises when a single nucleotide mutation converts a codon for an amino acid (in this case, arginine) into a stop codon (TGA), resulting in early termination of protein translation and production of truncated, usually nonfunctional, proteins[4][2]. PTCs, including Arg-to-TGA transitions, are responsible for 10–15% of all inherited genetic diseases and play roles in cancer and other disorders[4][5]. These mutations cause mRNA to be targeted by nonsense-mediated decay, reducing protein output, and are targets for emerging therapies, such as engineered tRNA to suppress the stop codon and restore protein expression[5][4]. While research and drug development target the effects of Arg-TGA PTCs, "Premature termination codon Arg-TGA" is not a canonical molecular target itself, but a description of one type of pathogenic genetic mutation[4][5][3]. Clarification: This entry is marked as "is_incorrect: true" because the query does not represent an actual unique protein or drug target, but rather a mutation event occurring at many possible loci[4][5]. Drug development for this mutation type focuses on readthrough therapies applicable to any gene with the relevant mutation, not on a specific molecule or receptor.

Other names

Premature stop codon (Arg-TGA)Arg to TGA nonsense mutationArg814* (example for F8 gene)PTC-Arg-TGA

Nonsense suppression/readthrough, tRNA-mediated codon suppression[5][4]