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T878A Mutation

Meaning

The T878A Mutation is a highly specific point mutation occurring at position 878 within the human Androgen Receptor (AR) gene, resulting in the substitution of the amino acid Threonine (T) with Alanine (A) in the final protein structure. This precise genetic alteration is clinically significant because it can lead to a fundamental change in the receptor’s three-dimensional structure and functional properties, potentially altering its binding affinity for androgens and other regulatory ligands. Such mutations are meticulously studied in the context of both androgen insensitivity syndromes and in the progression of castration-resistant prostate cancer where AR signaling is crucial.