R14del

R14del is a genetic variation observed in the human genome. It specifically refers to a deletion of the amino acid at position 14 in a particular protein. This type of mutation, where a segment of DNA is lost, can lead to a change in the resulting protein's structure and function. The significance of R14del depends on the protein it affects and its role within the cell or organism.

When a deletion occurs, it can cause a frameshift mutation if the deleted segment is not a multiple of three base pairs. This frameshift alters the way the genetic code is read downstream of the deletion, potentially leading to a completely different amino acid sequence and a non-functional protein. Alternatively, if the deletion is small and within a specific domain, it might subtly alter protein activity without causing complete loss of function.

The clinical relevance of R14del is determined through genetic studies and functional assays. If R14del is found to be associated with a particular disease or condition, it may be classified as a pathogenic variant. Genetic testing can identify individuals who carry this variation, which can be important for diagnosis, prognosis, and genetic counseling. Research into the specific protein affected by R14del is ongoing to fully understand its impact on human health.