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D327N Variant

Meaning

A specific point mutation within a gene, often associated with a nuclear receptor or a related protein, where the amino acid Aspartic acid (D) at position 327 is replaced by Asparagine (N). This precise molecular alteration can significantly change the protein’s structure and function, leading to altered hormone binding, receptor dimerization, or transcriptional activity. In endocrinology, such variants are frequently linked to syndromes of hormone resistance or altered sensitivity. The D327N notation is a standard nomenclature used in genetics to describe this amino acid substitution.