Missensemutaatioita

Missensemutaatioita, also known as missense mutations, are a type of point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid. This type of mutation can have various effects on the protein produced by the gene. In some cases, the altered amino acid may not significantly affect the function of the protein, leading to a neutral or benign mutation. However, missense mutations can also result in a non-functional protein, leading to a loss of function. Additionally, the altered amino acid may cause the protein to fold incorrectly or interact with other proteins in an abnormal manner, leading to a gain of function or a dominant-negative effect. Missense mutations are relatively common and can occur spontaneously or be induced by various factors such as radiation, chemicals, or viruses. They are often associated with genetic disorders and can be detected using various molecular biology techniques such as Sanger sequencing or next-generation sequencing. The impact of missense mutations on an individual's health and phenotype can vary widely depending on the specific gene and the amino acid change.