pVal174Ala

pVal174Ala is a specific genetic variation characterized by a substitution of the amino acid valine (Val) with alanine (Ala) at position 174 of a particular protein. This type of genetic change is known as a missense mutation, where a single nucleotide alteration leads to a change in the amino acid sequence of an encoded protein. Variations like pVal174Ala can influence protein function, potentially affecting biological processes and contributing to disease susceptibility or resistance.

The notation "pVal174Ala" indicates that at the 174th position in the protein's amino acid chain, valine is replaced by alanine. Such mutations are identified through genetic sequencing and are annotated using standardized nomenclature to facilitate clear communication within scientific research and clinical diagnostics.

The significance of pVal174Ala depends largely on the context of the specific gene and protein involved. For example, if the mutation occurs in a gene critical for immune regulation, it could impact immune responses. Conversely, if it affects an enzyme's active site, it might alter enzymatic activity. Studies examining the mutation often assess its association with disease risk, progression, or treatment response.

Research into pVal174Ala continues as scientists seek to understand its biological effects, environmental interactions, and potential as a biomarker for certain conditions. The mutation's prevalence varies across populations, which can provide insights into evolutionary pressures and genetic diversity.

Overall, pVal174Ala exemplifies the importance of understanding genetic variations at a molecular level, aiding in the advancement of personalized medicine and targeted therapies.