Mutagenesis Site

A "mutagenesis site" refers to a specific amino acid residue or region in a protein sequence that has been experimentally altered through mutagenesis to study its effect on the protein's structure, function, or biological properties.

This annotation is part of UniProt's detailed sequence feature information and is typically found in the "Phenotypes and variants" or "Disease and variants" sections of a protein entry.

Experimental Alteration

The site has been intentionally mutated in laboratory experiments (e.g., by site-directed mutagenesis) to observe how changing that particular residue affects the protein.

Purpose

Mutagenesis site data help researchers understand:

• The functional importance of specific amino acids
• Critical residues for activity, stability, or interactions
• The functional consequences of naturally occurring or disease-associated variants

Clinical Significance

Understanding mutagenesis sites helps:

• Predict the impact of natural variants
• Design therapeutic interventions
• Understand protein structure-function relationships
• Guide drug development efforts