E542K

E542K refers to a specific single nucleotide polymorphism (SNP) within the human genome. More precisely, it indicates a change in the DNA sequence where an adenine (A) nucleotide at a particular position has been replaced by a guanine (G) nucleotide. The "542" denotes the position of this change within a gene or a specific region of DNA, and "K" is a placeholder often used in genetic databases to represent the particular variant. The actual gene or genomic location associated with E542K is not inherently defined by the nomenclature itself and requires further context from the database or study where it was identified.

Such genetic variations can have various implications. They can be completely benign, meaning they have no observable effect on an individual's health or traits. Alternatively, they can be associated with an increased or decreased risk of certain diseases, influence drug responses, or contribute to subtle phenotypic differences. The functional significance of any given SNP, including E542K, is determined through extensive research involving genetic association studies, functional analysis of the gene product, and population-based studies. Understanding the specific gene and its role is crucial for interpreting the potential impact of the E542K variant.