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Ala57Thr Substitution

Meaning

The Ala57Thr substitution is a specific point mutation, a single nucleotide polymorphism (SNP), where the amino acid Alanine (Ala) at position 57 in a protein’s sequence is replaced by Threonine (Thr). This genetic variation is clinically significant when it occurs in a protein central to endocrine function, often altering the protein’s structure, stability, or binding affinity. This subtle change in the protein primary structure can lead to measurable variations in hormonal metabolism or receptor sensitivity among individuals. Such substitutions are essential considerations in personalized medicine and genetic risk stratification.