Asn93Ile

Asn93Ile refers to a specific genetic variation, also known as a single nucleotide polymorphism (SNP) or mutation, where the amino acid asparagine (Asn) at position 93 of a protein is replaced by isoleucine (Ile). This type of change is classified as a missense mutation, meaning a single nucleotide change in the DNA sequence leads to a different amino acid being incorporated into the protein during translation. The significance of Asn93Ile depends entirely on the specific gene and protein it affects. In some cases, this amino acid substitution may have no observable effect on the protein's structure or function, and thus no impact on the individual. However, in other instances, a change from asparagine to isoleucine at this particular position could alter the protein's three-dimensional shape, its interactions with other molecules, or its overall biological activity. Such alterations could potentially lead to a change in phenotype, or even be associated with an increased risk of certain diseases. Researchers often study these variations to understand their role in human health and disease, and they are frequently cataloged in genetic databases. The precise functional consequences and clinical relevance of Asn93Ile are determined through experimental studies and are specific to the protein in question.