Editing Missense mutation (section)

{{short description|Genetic point mutation that results in an amino acid change in a protein}}
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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]].<ref name=":11">{{cite web |title=Definition of Missense mutation |date=2012-03-19 |work=MedTerms medical dictionary |publisher=MedicineNet |url=http://www.medterms.com/script/main/art.asp?articlekey=4396 |access-date=2011-09-08 |archive-date=2013-12-02 |archive-url=https://web.archive.org/web/20131202224134/http://www.medterms.com/script/main/art.asp?articlekey=4396 |url-status=dead }}</ref> It is a type of [[nonsynonymous substitution]]. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure.<ref name=":6" /> These mutations may arise spontaneously from mutagens like UV radiation,<ref name=":5" /> tobacco smoke,<ref name=":4" /> an error in [[DNA replication]],<ref name=":7" /> and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a [[reference genome]] to analyze for differences.<ref name="Qin_2019" /> Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and [[DNA mismatch repair|mismatch repair]].<ref name="Kunkel_2004" /><ref name=":14" /> They can also be repaired by using genetic engineering technologies<ref name="Hou_2024" /> or pharmaceuticals.<ref name="Striessnig_2021" /><ref name="Schulz-Heddergott_2018" /> Some notable examples of human diseases caused by missense mutations are [[Rett syndrome]],<ref name=":8" /> [[cystic fibrosis]],<ref name=":10" /> and [[Sickle cell disease|sickle-cell disease]].<ref name=":1" />[[File:Missense Mutation Example.jpg|thumb|This image shows an example of missense mutation. One of the nucleotides (adenine) is replaced by another nucleotide (cytosine) in the DNA sequence. This results in an incorrect amino acid (proline) being incorporated into the protein sequence.|313x313px]]