Back طفرة مغلطة Arabic Misens mutacija BS Mutació amb canvi de sentit Catalan Missense-mutation Danish Mutación con cambio de sentido Spanish جهش بدمعنی Persian Missense-mutaatio Finnish Mutation faux sens French Mutación con cambio de sentido Galician מוטציית סלף HE
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.[1] It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and often their function or structure.[2] These mutations can arise spontaneously from mutagens like UV radiation,[3] tobacco smoke,[4] error in DNA replication,[5] and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication, using mechanisms like mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome[6] and sickle-cell disease.[7]
- ^ "Definition of Missense mutation". MedTerms medical dictionary. MedicineNet. 2012-03-19. Archived from the original on 2013-12-02. Retrieved 2011-09-08.
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