Thr92Ala ∞ Area

Thr92Ala

Meaning

Thr92Ala signifies a specific amino acid substitution: Threonine at protein position 92 is replaced by Alanine. This arises from a DNA change, leading to an altered codon. This modification impacts the protein’s primary structure, potentially altering its conformation and function.

Context

This amino acid change occurs within the genetic code, influencing a protein’s structure and activity. Proteins are fundamental in human physiology, performing enzymatic roles, providing structural support, and facilitating cellular communication. A substitution at position 92 could reside in a critical functional domain, affecting its role in biochemical pathways.

Significance

The clinical relevance of a Thr92Ala mutation hinges on the affected protein and its functional consequences. This substitution can modify protein activity, leading to varied health outcomes, from subtle changes to significant disease. This might manifest as altered hormone receptor function or disrupted metabolic regulation, impacting disease susceptibility or therapeutic responsiveness. Such identification supports precision medicine.

Mechanism

The Thr92Ala mutation originates from a single nucleotide change in the protein’s encoding DNA. This DNA alteration is transcribed into mRNA with a corresponding codon modification. During translation, the altered mRNA codon directs Alanine incorporation instead of Threonine at position 92. Alanine’s distinct chemical properties may alter protein folding, stability, or interactions, impacting biological function.

Application

Identification of a Thr92Ala mutation is primarily achieved through genetic sequencing in diagnostic laboratories. Clinically, this genetic information assists healthcare providers in assessing an individual’s predisposition to inherited conditions, predicting drug responses, or elucidating causes of specific endocrine imbalances. Such knowledge informs tailored management strategies for patient well-being.

Metric

The presence of a Thr92Ala mutation is directly ascertained by analyzing an individual’s DNA sequence, typically from a blood or saliva sample. Molecular diagnostic techniques confirm the nucleotide change. Beyond genetic confirmation, functional impact may be assessed through biochemical assays measuring protein activity or ligand binding, or by monitoring relevant clinical biomarkers.

Risk

Identifying a Thr92Ala mutation provides valuable genetic insight, but risks exist regarding result interpretation and patient communication. Misinterpretation can lead to undue patient concern or unnecessary interventions, especially if its clinical significance is not fully established. Uncovering other non-immediately relevant genetic findings is also possible. Genetic information carries implications for family members, necessitating careful management and professional genetic counseling.