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<span>Categorization</span> </div> </a> <button aria-controls="toc-Categorization-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Categorization subsection</span> </button> <ul id="toc-Categorization-sublist" class="vector-toc-list"> <li id="toc-Transition/transversion_categorization" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Transition/transversion_categorization"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span>Transition/transversion categorization</span> </div> </a> <ul id="toc-Transition/transversion_categorization-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Functional_categorization" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Functional_categorization"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.2</span> <span>Functional categorization</span> </div> </a> <ul id="toc-Functional_categorization-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Single_base_pair_insertions_and_deletions" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Single_base_pair_insertions_and_deletions"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.3</span> <span>Single base pair insertions and deletions</span> </div> </a> <ul id="toc-Single_base_pair_insertions_and_deletions-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-General_consequences" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#General_consequences"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>General consequences</span> </div> </a> <ul id="toc-General_consequences-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Specific_diseases_caused_by_point_mutations" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Specific_diseases_caused_by_point_mutations"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Specific diseases caused by point mutations</span> </div> </a> <button aria-controls="toc-Specific_diseases_caused_by_point_mutations-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Specific diseases caused by point mutations subsection</span> </button> <ul id="toc-Specific_diseases_caused_by_point_mutations-sublist" class="vector-toc-list"> <li id="toc-Cancer" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cancer"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.1</span> <span>Cancer</span> </div> </a> <ul id="toc-Cancer-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Neurofibromatosis" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Neurofibromatosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.2</span> <span>Neurofibromatosis</span> </div> </a> <ul id="toc-Neurofibromatosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Sickle-cell_anemia" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Sickle-cell_anemia"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.3</span> <span>Sickle-cell anemia</span> </div> </a> <ul id="toc-Sickle-cell_anemia-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Tay–Sachs_disease" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Tay–Sachs_disease"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.4</span> <span>Tay–Sachs disease</span> </div> </a> <ul id="toc-Tay–Sachs_disease-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Repeat-induced_point_mutation" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Repeat-induced_point_mutation"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Repeat-induced point mutation</span> </div> </a> <button aria-controls="toc-Repeat-induced_point_mutation-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Repeat-induced point mutation subsection</span> </button> <ul id="toc-Repeat-induced_point_mutation-sublist" class="vector-toc-list"> <li id="toc-Mechanism" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Mechanism"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Mechanism</span> </div> </a> <ul id="toc-Mechanism-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Consequences" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Consequences"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Consequences</span> </div> </a> <ul id="toc-Consequences-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Use_in_molecular_biology" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Use_in_molecular_biology"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.3</span> <span>Use in molecular biology</span> </div> </a> <ul id="toc-Use_in_molecular_biology-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main 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class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Point mutation</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 28 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-28" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">28 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%B7%D9%81%D8%B1%D8%A9_%D9%86%D9%82%D8%B7%D9%8A%D8%A9" title="طفرة نقطية – Arabic" lang="ar" hreflang="ar" data-title="طفرة نقطية" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Ta%C4%8Dkasta_mutacija" title="Tačkasta mutacija – Bosnian" lang="bs" hreflang="bs" data-title="Tačkasta mutacija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Mutaci%C3%B3_puntual" title="Mutació puntual – Catalan" lang="ca" hreflang="ca" data-title="Mutació puntual" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Punktmutation" title="Punktmutation – Danish" lang="da" hreflang="da" data-title="Punktmutation" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Punktmutation" title="Punktmutation – German" lang="de" hreflang="de" data-title="Punktmutation" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Mutaci%C3%B3n_gen%C3%A9tica" title="Mutación genética – Spanish" lang="es" hreflang="es" data-title="Mutación genética" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%AC%D9%87%D8%B4_%D9%86%D9%82%D8%B7%D9%87%E2%80%8C%D8%A7%DB%8C" title="جهش نقطه‌ای – Persian" lang="fa" hreflang="fa" data-title="جهش نقطه‌ای" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Mutation_ponctuelle" title="Mutation ponctuelle – French" lang="fr" hreflang="fr" data-title="Mutation ponctuelle" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Mutaci%C3%B3n_puntual" title="Mutación puntual – Galician" lang="gl" hreflang="gl" data-title="Mutación puntual" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%A0%90_%EB%8F%8C%EC%97%B0%EB%B3%80%EC%9D%B4" title="점 돌연변이 – Korean" lang="ko" hreflang="ko" data-title="점 돌연변이" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%9E%D7%95%D7%98%D7%A6%D7%99%D7%94_%D7%A0%D7%A7%D7%95%D7%93%D7%AA%D7%99%D7%AA" title="מוטציה נקודתית – Hebrew" lang="he" hreflang="he" data-title="מוטציה נקודתית" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-ku mw-list-item"><a href="https://ku.wikipedia.org/wiki/Mutasyona_xal%C3%AE" title="Mutasyona xalî – Kurdish" lang="ku" hreflang="ku" data-title="Mutasyona xalî" data-language-autonym="Kurdî" data-language-local-name="Kurdish" class="interlanguage-link-target"><span>Kurdî</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Puntmutatie" title="Puntmutatie – Dutch" lang="nl" hreflang="nl" data-title="Puntmutatie" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E7%82%B9%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0" title="点突然変異 – Japanese" lang="ja" hreflang="ja" data-title="点突然変異" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Punktmutasjon" title="Punktmutasjon – Norwegian Bokmål" lang="nb" hreflang="nb" data-title="Punktmutasjon" data-language-autonym="Norsk bokmål" data-language-local-name="Norwegian Bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Nuqtali_mutatsiya" title="Nuqtali mutatsiya – Uzbek" lang="uz" hreflang="uz" data-title="Nuqtali mutatsiya" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Uzbek" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Mutacja_punktowa" title="Mutacja punktowa – Polish" lang="pl" hreflang="pl" data-title="Mutacja punktowa" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Muta%C3%A7%C3%A3o_pontual" title="Mutação pontual – Portuguese" lang="pt" hreflang="pt" data-title="Mutação pontual" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A2%D0%BE%D1%87%D0%B5%D1%87%D0%BD%D0%B0%D1%8F_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D1%8F" title="Точечная мутация – Russian" lang="ru" hreflang="ru" data-title="Точечная мутация" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Point_mutation" title="Point mutation – Simple English" lang="en-simple" hreflang="en-simple" data-title="Point mutation" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-ckb mw-list-item"><a href="https://ckb.wikipedia.org/wiki/%D9%BE%D9%86%D8%AA%DB%95_%D8%A8%D8%A7%D8%B2%D8%AF%D8%A7%D9%86" title="پنتە بازدان – Central Kurdish" lang="ckb" hreflang="ckb" data-title="پنتە بازدان" data-language-autonym="کوردی" data-language-local-name="Central Kurdish" class="interlanguage-link-target"><span>کوردی</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%93%D0%B5%D0%BD%D1%81%D0%BA%D0%B5_%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D1%98%D0%B5" title="Генске мутације – Serbian" lang="sr" hreflang="sr" data-title="Генске мутације" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Ta%C4%8Dkasta_mutacija" title="Tačkasta mutacija – Serbo-Croatian" lang="sh" hreflang="sh" data-title="Tačkasta mutacija" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Serbo-Croatian" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Pistemutaatio" title="Pistemutaatio – Finnish" lang="fi" hreflang="fi" data-title="Pistemutaatio" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Punktmutation" title="Punktmutation – Swedish" lang="sv" hreflang="sv" data-title="Punktmutation" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Nokta_mutasyon" title="Nokta mutasyon – Turkish" lang="tr" hreflang="tr" data-title="Nokta mutasyon" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/%C4%90%E1%BB%99t_bi%E1%BA%BFn_%C4%91i%E1%BB%83m" title="Đột biến điểm – Vietnamese" lang="vi" hreflang="vi" data-title="Đột biến điểm" data-language-autonym="Tiếng Việt" data-language-local-name="Vietnamese" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E9%BB%9E%E7%AA%81%E8%AE%8A" title="點突變 – Chinese" lang="zh" hreflang="zh" data-title="點突變" data-language-autonym="中文" data-language-local-name="Chinese" class="interlanguage-link-target"><span>中文</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q1415380#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> 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src="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Point_mutations-en.png/350px-Point_mutations-en.png" decoding="async" width="350" height="264" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Point_mutations-en.png/525px-Point_mutations-en.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/69/Point_mutations-en.png/700px-Point_mutations-en.png 2x" data-file-width="1216" data-file-height="917" /></a><figcaption>Point mutations of a codon, classified by their impact on protein sequence</figcaption></figure> <figure typeof="mw:File/Thumb"><a href="/wiki/File:RNA-codons-aminoacids.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/6/6d/RNA-codons-aminoacids.svg/350px-RNA-codons-aminoacids.svg.png" decoding="async" width="350" height="94" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/6d/RNA-codons-aminoacids.svg/525px-RNA-codons-aminoacids.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/6d/RNA-codons-aminoacids.svg/700px-RNA-codons-aminoacids.svg.png 2x" data-file-width="512" data-file-height="137" /></a><figcaption>Schematic of a single-stranded RNA molecule illustrating a series of three-base <a href="/wiki/Codon" class="mw-redirect" title="Codon">codons</a>. Each three-<a href="/wiki/Nucleotide" title="Nucleotide">nucleotide</a> codon corresponds to an <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a> when translated to protein. When one of these codons is changed by a point mutation, the corresponding amino acid of the protein is changed.</figcaption></figure> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Sanger_Sequencing_heterozygous_point_mutation.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/1/18/Sanger_Sequencing_heterozygous_point_mutation.png" decoding="async" width="202" height="185" class="mw-file-element" data-file-width="202" data-file-height="185" /></a><figcaption>A to G point mutation detected with Sanger sequencing</figcaption></figure> <p>A <b>point mutation</b> is a genetic <a href="/wiki/Mutation" title="Mutation">mutation</a> where a single nucleotide base is changed, inserted or deleted from a <a href="/wiki/DNA" title="DNA">DNA</a> or <a href="/wiki/RNA" title="RNA">RNA</a> sequence of an organism's genome.<sup id="cite_ref-Point_Mutation_Def_BD_1-0" class="reference"><a href="#cite_note-Point_Mutation_Def_BD-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect (e.g. <a href="/wiki/Synonymous_substitution" title="Synonymous substitution">synonymous mutations</a>) to deleterious effects (e.g. <a href="/wiki/Frameshift_mutations" class="mw-redirect" title="Frameshift mutations">frameshift mutations</a>), with regard to protein production, composition, and function. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=1" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Point mutations usually take place during <a href="/wiki/DNA_replication" title="DNA replication">DNA replication</a>. DNA replication occurs when one double-stranded DNA molecule creates two single strands of DNA, each of which is a template for the creation of the complementary strand. A single point mutation can change the whole DNA sequence. Changing one <a href="/wiki/Purine" title="Purine">purine</a> or <a href="/wiki/Pyrimidine" title="Pyrimidine">pyrimidine</a> may change the amino acid that the <a href="/wiki/Nucleotide" title="Nucleotide">nucleotides</a> code for. </p><p>Point mutations may arise from spontaneous <a href="/wiki/Mutation" title="Mutation">mutations</a> that occur during <a href="/wiki/DNA_replication" title="DNA replication">DNA replication</a>. The rate of mutation may be increased by <a href="/wiki/Mutagen" title="Mutagen">mutagens</a>. Mutagens can be physical, such as radiation from <a href="/wiki/Ultraviolet_light" class="mw-redirect" title="Ultraviolet light">UV rays</a>, <a href="/wiki/X-ray" title="X-ray">X-rays</a> or extreme heat, or chemical (molecules that misplace base pairs or disrupt the helical shape of DNA). Mutagens associated with cancers are often studied to learn about cancer and its prevention. </p><p>There are multiple ways for point mutations to occur. First, <a href="/wiki/Ultraviolet_light" class="mw-redirect" title="Ultraviolet light">ultraviolet (UV) light</a> and higher-frequency light have ionizing capability, which in turn can affect DNA. Reactive oxygen molecules with free radicals, which are a byproduct of cellular metabolism, can also be very harmful to DNA. These reactants can lead to both single-stranded and double-stranded DNA breaks. Third, bonds in DNA eventually degrade, which creates another problem to keep the integrity of DNA to a high standard. There can also be replication errors that lead to substitution, insertion, or deletion mutations. </p> <div class="mw-heading mw-heading2"><h2 id="Categorization">Categorization</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=2" title="Edit section: Categorization"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Transition/transversion_categorization"><span id="Transition.2Ftransversion_categorization"></span>Transition/transversion categorization</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=3" title="Edit section: Transition/transversion categorization"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:TsTvMutation.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b4/TsTvMutation.jpg/300px-TsTvMutation.jpg" decoding="async" width="300" height="288" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b4/TsTvMutation.jpg/450px-TsTvMutation.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b4/TsTvMutation.jpg/600px-TsTvMutation.jpg 2x" data-file-width="1392" data-file-height="1336" /></a><figcaption><a href="/wiki/Transition_(genetics)" title="Transition (genetics)">Transitions</a> (Alpha) and transversions (Beta).</figcaption></figure> <p>In 1959 <a href="/wiki/Ernst_Freese" title="Ernst Freese">Ernst Freese</a> coined the terms "transitions" or "transversions" to categorize different types of point mutations.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Transitions are replacement of a <a href="/wiki/Purine" title="Purine">purine</a> base with another <a href="/wiki/Purine" title="Purine">purine</a> or replacement of a <a href="/wiki/Pyrimidine" title="Pyrimidine">pyrimidine</a> with another pyrimidine. Transversions are replacement of a purine with a pyrimidine or vice versa. There is a systematic difference in mutation rates for <a href="/wiki/Transition_(genetics)" title="Transition (genetics)">transitions</a> (Alpha) and <a href="/wiki/Transversion" title="Transversion">transversions</a> (Beta). Transition mutations are about ten times more common than transversions. </p> <div class="mw-heading mw-heading3"><h3 id="Functional_categorization">Functional categorization</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=4" title="Edit section: Functional categorization"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Nonsense_mutations" class="mw-redirect" title="Nonsense mutations">Nonsense mutations</a> include stop-gain and start-loss. Stop-gain is a mutation that results in a premature <a href="/wiki/Termination_codon" class="mw-redirect" title="Termination codon">termination codon</a> (<i>a stop was gained</i>), which signals the end of translation. This interruption causes the protein to be abnormally shortened. The number of amino acids lost mediates the impact on the protein's functionality and whether it will function whatsoever.<sup id="cite_ref-autogenerated1_4-0" class="reference"><a href="#cite_note-autogenerated1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Stop-loss is a mutation in the original termination codon (<i>a stop was lost</i>), resulting in abnormal extension of a protein's carboxyl terminus. Start-gain creates an AUG start codon upstream of the original start site. If the new AUG is near the original start site, in-frame within the processed transcript and downstream to a ribosomal binding site, it can be used to initiate translation. The likely effect is additional amino acids added to the amino terminus of the original protein. Frame-shift mutations are also possible in start-gain mutations, but typically do not affect translation of the original protein. Start-loss is a point mutation in a transcript's AUG start codon, resulting in the reduction or elimination of protein production. </p><p><a href="/wiki/Missense_mutations" class="mw-redirect" title="Missense mutations">Missense mutations</a> code for a different amino acid. A missense mutation changes a codon so that a different protein is created, a non-synonymous change.<sup id="cite_ref-autogenerated1_4-1" class="reference"><a href="#cite_note-autogenerated1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Conservative mutations result in an amino acid change. However, the properties of the amino acid remain the same (e.g., hydrophobic, hydrophilic, etc.). At times, a change to one amino acid in the protein is not detrimental to the organism as a whole. Most proteins can withstand one or two point mutations before their function changes. Non-conservative mutations result in an amino acid change that has different properties than the <a href="/wiki/Wild_type" title="Wild type">wild type</a>. The protein may lose its function, which can result in a disease in the organism. For example, <a href="/wiki/Sickle-cell_disease" class="mw-redirect" title="Sickle-cell disease">sickle-cell disease</a> is caused by a single point mutation (a missense mutation) in the beta-<a href="/wiki/Hemoglobin" title="Hemoglobin">hemoglobin</a> <a href="/wiki/Gene" title="Gene">gene</a> that converts a GAG <a href="/wiki/Codon" class="mw-redirect" title="Codon">codon</a> into GUG, which encodes the <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a> <a href="/wiki/Valine" title="Valine">valine</a> rather than <a href="/wiki/Glutamic_acid" title="Glutamic acid">glutamic acid</a>. The protein may also exhibit a "gain of function" or become activated, such is the case with the mutation changing a valine to glutamic acid in the <a href="/wiki/BRAF_(gene)" title="BRAF (gene)">BRAF</a> gene; this leads to an activation of the RAF protein which causes unlimited proliferative signalling in cancer cells.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> These are both examples of a non-conservative (missense) mutation. </p><p><a href="/wiki/Silent_mutation" title="Silent mutation">Silent mutations</a> code for the same amino acid (a "<a href="/wiki/Synonymous_substitution" title="Synonymous substitution">synonymous substitution</a>"). A silent mutation does not affect the functioning of the <a href="/wiki/Protein" title="Protein">protein</a>. A single nucleotide can change, but the new codon specifies the same amino acid, resulting in an unmutated protein. This type of change is called synonymous change since the old and new codon code for the same amino acid. This is possible because 64 codons specify only 20 amino acids. Different codons can lead to differential protein expression levels, however.<sup id="cite_ref-autogenerated1_4-2" class="reference"><a href="#cite_note-autogenerated1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Single_base_pair_insertions_and_deletions">Single base pair insertions and deletions</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=5" title="Edit section: Single base pair insertions and deletions"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Sometimes the term <i>point mutation</i> is used to describe <a href="/wiki/Insertion_(genetics)" title="Insertion (genetics)">insertions</a> or deletions of a single base pair (which has more of an adverse effect on the synthesized protein due to the nucleotides' still being read in triplets, but in different frames: a mutation called a <a href="/wiki/Frameshift_mutation" title="Frameshift mutation">frameshift mutation</a>).<sup id="cite_ref-autogenerated1_4-3" class="reference"><a href="#cite_note-autogenerated1-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="General_consequences">General consequences</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=6" title="Edit section: General consequences"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Point mutations that occur in non-coding sequences are most often without consequences, although there are exceptions. If the mutated base pair is in the <a href="/wiki/Promoter_(biology)" class="mw-redirect" title="Promoter (biology)">promoter</a> sequence of a gene, then the expression of the gene may change. Also, if the mutation occurs in the splicing site of an <a href="/wiki/Intron" title="Intron">intron</a>, then this may interfere with correct splicing of the transcribed <a href="/wiki/Pre-mRNA" class="mw-redirect" title="Pre-mRNA">pre-mRNA</a>. </p><p>By altering just one amino acid, the entire <a href="/wiki/Peptide" title="Peptide">peptide</a> may change, thereby changing the entire protein. The new protein is called a <a href="/w/index.php?title=Protein_variant&action=edit&redlink=1" class="new" title="Protein variant (page does not exist)">protein variant</a>. If the original protein functions in cellular reproduction then this single point mutation can change the entire process of cellular reproduction for this organism. </p><p>Point <a href="/wiki/Germline_mutation" title="Germline mutation">germline mutations</a> can lead to beneficial as well as harmful traits or diseases. This leads to <a href="/wiki/Adaptation" title="Adaptation">adaptations</a> based on the environment where the organism lives. An advantageous mutation can create an advantage for that organism and lead to the trait's being passed down from generation to generation, improving and benefiting the entire population. The scientific theory of <a href="/wiki/Evolution" title="Evolution">evolution</a> is greatly dependent on point mutations in <a href="/wiki/Cell_(biology)" title="Cell (biology)">cells</a>. The theory explains the diversity and history of living organisms on Earth. In relation to point mutations, it states that beneficial mutations allow the organism to thrive and reproduce, thereby passing its positively affected mutated genes on to the next generation. On the other hand, harmful mutations cause the organism to die or be less likely to reproduce in a phenomenon known as <a href="/wiki/Natural_selection" title="Natural selection">natural selection</a>. </p><p>There are different short-term and long-term effects that can arise from mutations. Smaller ones would be a halting of the cell cycle at numerous points. This means that a codon coding for the amino acid <a href="/wiki/Glycine" title="Glycine">glycine</a> may be changed to a stop codon, causing the proteins that should have been produced to be deformed and unable to complete their intended tasks. Because the mutations can affect the DNA and thus the <a href="/wiki/Chromatin" title="Chromatin">chromatin</a>, it can prohibit mitosis from occurring due to the lack of a complete chromosome. Problems can also arise during the processes of transcription and replication of DNA. These all prohibit the cell from reproduction and thus lead to the death of the cell. Long-term effects can be a permanent changing of a chromosome, which can lead to a mutation. These mutations can be either beneficial or detrimental. <a href="/wiki/Cancer" title="Cancer">Cancer</a> is an example of how they can be detrimental.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>Other effects of point mutations, or single nucleotide polymorphisms in DNA, depend on the location of the mutation within the gene. For example, if the mutation occurs in the region of the gene responsible for coding, the amino acid sequence of the encoded protein may be altered, causing a change in the function, protein localization, stability of the protein or protein complex. Many methods have been proposed to predict the effects of missense mutations on proteins. Machine learning algorithms train their models to distinguish known disease-associated from neutral mutations whereas other methods do not explicitly train their models but almost all methods exploit the evolutionary conservation assuming that changes at conserved positions tend to be more deleterious. While majority of methods provide a binary classification of effects of mutations into damaging and benign, a new level of annotation is needed to offer an explanation of why and how these mutations damage proteins.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Moreover, if the mutation occurs in the region of the gene where transcriptional machinery binds to the protein, the mutation can affect the binding of the transcription factors because the short nucleotide sequences recognized by the transcription factors will be altered. Mutations in this region can affect rate of efficiency of gene transcription, which in turn can alter levels of mRNA and, thus, protein levels in general. </p><p>Point mutations can have several effects on the behavior and reproduction of a protein depending on where the mutation occurs in the amino acid sequence of the protein. If the mutation occurs in the region of the gene that is responsible for coding for the protein, the amino acid may be altered. This slight change in the sequence of amino acids can cause a change in the function, activation of the protein meaning how it binds with a given enzyme, where the protein will be located within the cell, or the amount of free energy stored within the protein. </p><p>If the mutation occurs in the region of the gene where transcriptional machinery binds to the protein, the mutation can affect the way in which transcription factors bind to the protein. The mechanisms of transcription bind to a protein through recognition of short nucleotide sequences. A mutation in this region may alter these sequences and, thus, change the way the transcription factors bind to the protein. Mutations in this region can affect the efficiency of gene transcription, which controls both the levels of mRNA and overall protein levels.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Specific_diseases_caused_by_point_mutations">Specific diseases caused by point mutations</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=7" title="Edit section: Specific diseases caused by point mutations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Cancer">Cancer</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=8" title="Edit section: Cancer"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Point mutations in multiple tumor suppressor proteins cause <a href="/wiki/Cancer" title="Cancer">cancer</a>. For instance, point mutations in Adenomatous Polyposis Coli promote tumorigenesis.<sup id="cite_ref-APC_point_mutations_9-0" class="reference"><a href="#cite_note-APC_point_mutations-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> A novel assay, <a href="/wiki/Fast_parallel_proteolysis_(FASTpp)" class="mw-redirect" title="Fast parallel proteolysis (FASTpp)">Fast parallel proteolysis (FASTpp)</a>, might help swift screening of specific stability defects in individual cancer patients.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Neurofibromatosis">Neurofibromatosis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=9" title="Edit section: Neurofibromatosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Neurofibromatosis" title="Neurofibromatosis">Neurofibromatosis</a> is caused by point mutations in the <a href="/wiki/Neurofibromin_1" class="mw-redirect" title="Neurofibromin 1">Neurofibromin 1</a><sup id="cite_ref-pmid11409870_11-0" class="reference"><a href="#cite_note-pmid11409870-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid14635100_12-0" class="reference"><a href="#cite_note-pmid14635100-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> or <a href="/wiki/Neurofibromin_2" class="mw-redirect" title="Neurofibromin 2">Neurofibromin 2</a> gene.<sup id="cite_ref-pmid12011146_13-0" class="reference"><a href="#cite_note-pmid12011146-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Sickle-cell_anemia">Sickle-cell anemia</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=10" title="Edit section: Sickle-cell anemia"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Sickle-cell_anemia" class="mw-redirect" title="Sickle-cell anemia">Sickle-cell anemia</a> is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. </p><p>The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two mutant β-globin subunits forms hemoglobin S (HbS). Under low-oxygen conditions (being at high altitude, for example), the absence of a polar amino acid at position six of the β-globin chain promotes the non-covalent polymerisation (aggregation) of hemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Hemoglobin" title="Hemoglobin">Hemoglobin</a> is a protein found in red blood cells, and is responsible for the transportation of oxygen through the body.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> There are two subunits that make up the hemoglobin protein: <a href="/wiki/HBB" class="mw-redirect" title="HBB">beta-globins</a> and <a href="/wiki/Hemoglobin,_alpha_1" class="mw-redirect" title="Hemoglobin, alpha 1">alpha-globins</a>.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene found on chromosome 11p15.5.<sup id="cite_ref-NBK22238_17-0" class="reference"><a href="#cite_note-NBK22238-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> A single point mutation in this polypeptide chain, which is 147 amino acids long, results in the disease known as Sickle Cell Anemia.<sup id="cite_ref-nature1_18-0" class="reference"><a href="#cite_note-nature1-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Sickle-cell anemia is an autosomal recessive disorder that affects 1 in 500 African Americans, and is one of the most common blood disorders in the United States.<sup id="cite_ref-NBK22238_17-1" class="reference"><a href="#cite_note-NBK22238-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in deformed red blood cells. These sickle-shaped cells cannot carry nearly as much oxygen as normal red blood cells and they get caught more easily in the capillaries, cutting off blood supply to vital organs. The single nucleotide change in the beta-globin means that even the smallest of exertions on the part of the carrier results in severe pain and even heart attack. Below is a chart depicting the first thirteen amino acids in the normal and abnormal <a href="/wiki/Sickle_cell" class="mw-redirect" title="Sickle cell">sickle cell</a> polypeptide chain.<sup id="cite_ref-nature1_18-1" class="reference"><a href="#cite_note-nature1-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p><br /> </p> <table class="wikitable"> <caption>Sequence for normal hemoglobin </caption> <tbody><tr> <td>AUG</td> <td>GUG</td> <td>CAC</td> <td>CUG</td> <td>ACU</td> <td>CCU</td> <td>G<span style="color:red">A</span>G</td> <td>GAG</td> <td>AAG</td> <td>UCU</td> <td>GCC</td> <td>GUU</td> <td>ACU </td></tr> <tr> <td>START</td> <td><a href="/wiki/Valine" title="Valine">Val</a></td> <td><a href="/wiki/Histidine" title="Histidine">His</a></td> <td><a href="/wiki/Leucine" title="Leucine">Leu</a></td> <td><a href="/wiki/Threonine" title="Threonine">Thr</a></td> <td><a href="/wiki/Proline" title="Proline">Pro</a></td> <td><a href="/wiki/Glutamic_Acid" class="mw-redirect" title="Glutamic Acid"><span style="color:red">Glu</span></a></td> <td><a href="/wiki/Glutamic_Acid" class="mw-redirect" title="Glutamic Acid">Glu</a></td> <td><a href="/wiki/Lysine" title="Lysine">Lys</a></td> <td><a href="/wiki/Serine" title="Serine">Ser</a></td> <td><a href="/wiki/Alanine" title="Alanine">Ala</a></td> <td><a href="/wiki/Valine" title="Valine">Val</a></td> <td><a href="/wiki/Threonine" title="Threonine">Thr</a> </td></tr></tbody></table> <p><br /> </p> <table class="wikitable"> <caption>Sequence for sickle-cell hemoglobin </caption> <tbody><tr> <td>AUG</td> <td>GUG</td> <td>CAC</td> <td>CUG</td> <td>ACU</td> <td>CCU</td> <td>G<span style="color:red">U</span>G</td> <td>GAG</td> <td>AAG</td> <td>UCU</td> <td>GCC</td> <td>GUU</td> <td>ACU </td></tr> <tr> <td>START</td> <td><a href="/wiki/Valine" title="Valine">Val</a></td> <td><a href="/wiki/Histidine" title="Histidine">His</a></td> <td><a href="/wiki/Leucine" title="Leucine">Leu</a></td> <td><a href="/wiki/Threonine" title="Threonine">Thr</a></td> <td><a href="/wiki/Proline" title="Proline">Pro</a></td> <td><a href="/wiki/Valine" title="Valine"><span style="color:red">Val</span></a></td> <td><a href="/wiki/Glutamic_Acid" class="mw-redirect" title="Glutamic Acid">Glu</a></td> <td><a href="/wiki/Lysine" title="Lysine">Lys</a></td> <td><a href="/wiki/Serine" title="Serine">Ser</a></td> <td><a href="/wiki/Alanine" title="Alanine">Ala</a></td> <td><a href="/wiki/Valine" title="Valine">Val</a></td> <td><a href="/wiki/Threonine" title="Threonine">Thr</a> </td></tr></tbody></table> <div class="mw-heading mw-heading3"><h3 id="Tay–Sachs_disease"><span id="Tay.E2.80.93Sachs_disease"></span>Tay–Sachs disease</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=11" title="Edit section: Tay–Sachs disease"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The cause of <a href="/wiki/Tay%E2%80%93Sachs_disease" title="Tay–Sachs disease">Tay–Sachs disease</a> is a genetic defect that is passed from parent to child. This genetic defect is located in the HEXA gene, which is found on chromosome 15. </p><p>The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This enzyme helps break down a fatty substance called GM2 ganglioside in nerve cells. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As a result, the fatty substances accumulate to deadly levels in the brain and spinal cord. The buildup of GM2 ganglioside causes progressive damage to the nerve cells. This is the cause of the signs and symptoms of Tay-Sachs disease.<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Repeat-induced_point_mutation">Repeat-induced point mutation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=12" title="Edit section: Repeat-induced point mutation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In <a href="/wiki/Molecular_biology" title="Molecular biology">molecular biology</a>, <b>repeat-induced point mutation</b> or <b>RIP</b> is a process by which <a href="/wiki/DNA" title="DNA">DNA</a> accumulates <a href="/wiki/Guanine" title="Guanine">G</a>:<a href="/wiki/Cytosine" title="Cytosine">C</a> to <a href="/wiki/Adenine" title="Adenine">A</a>:<a href="/wiki/Thymine" title="Thymine">T</a> <a href="/wiki/Transition_(genetics)" title="Transition (genetics)">transition</a> mutations. Genomic evidence indicates that RIP occurs or has occurred in a variety of fungi<sup id="cite_ref-pmid20854921_20-0" class="reference"><a href="#cite_note-pmid20854921-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> while experimental evidence indicates that RIP is active in <i><a href="/wiki/Neurospora_crassa" title="Neurospora crassa">Neurospora crassa</a></i>,<sup id="cite_ref-pmid2960455_21-0" class="reference"><a href="#cite_note-pmid2960455-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> <i><a href="/wiki/Podospora_anserina" title="Podospora anserina">Podospora anserina</a></i>,<sup id="cite_ref-pmid11359565_22-0" class="reference"><a href="#cite_note-pmid11359565-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> <i><a href="/wiki/Magnaporthe_grisea" title="Magnaporthe grisea">Magnaporthe grisea</a></i>,<sup id="cite_ref-pmid12207702_23-0" class="reference"><a href="#cite_note-pmid12207702-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> <i><a href="/wiki/Leptosphaeria_maculans" title="Leptosphaeria maculans">Leptosphaeria maculans</a></i>,<sup id="cite_ref-pmid12742061_24-0" class="reference"><a href="#cite_note-pmid12742061-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> <i><a href="/wiki/Gibberella_zeae" title="Gibberella zeae">Gibberella zeae</a></i><sup id="cite_ref-pmid17823352_25-0" class="reference"><a href="#cite_note-pmid17823352-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> and <i><a href="/wiki/Nectria_haematococca" class="mw-redirect" title="Nectria haematococca">Nectria haematococca</a></i>.<sup id="cite_ref-pmid19714214_26-0" class="reference"><a href="#cite_note-pmid19714214-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> In <i><a href="/wiki/Neurospora_crassa" title="Neurospora crassa">Neurospora crassa</a></i>, sequences mutated by RIP are often <a href="/wiki/DNA_methylation" title="DNA methylation">methylated</a> <i>de novo</i>.<sup id="cite_ref-pmid2960455_21-1" class="reference"><a href="#cite_note-pmid2960455-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p><p>RIP occurs during the sexual stage in <a href="/wiki/Haploid_cell#Haploid_and_monoploid" class="mw-redirect" title="Haploid cell">haploid nuclei</a> after fertilization but prior to <a href="/wiki/Meiosis" title="Meiosis">meiotic</a> <a href="/wiki/DNA_replication" title="DNA replication">DNA replication</a>.<sup id="cite_ref-pmid2960455_21-2" class="reference"><a href="#cite_note-pmid2960455-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> In <i><a href="/wiki/Neurospora_crassa" title="Neurospora crassa">Neurospora crassa</a></i>, <a href="/wiki/Repeated_sequence_(DNA)" title="Repeated sequence (DNA)">repeat sequences</a> of at least 400 <a href="/wiki/Base_pair" title="Base pair">base pairs</a> in length are vulnerable to RIP. Repeats with as low as 80% <a href="/wiki/Nucleotide" title="Nucleotide">nucleotide</a> identity may also be subject to RIP. Though the exact mechanism of repeat recognition and mutagenesis are poorly understood, RIP results in repeated sequences undergoing multiple <a href="/wiki/Transition_mutation" class="mw-redirect" title="Transition mutation">transition mutations</a>. </p><p>The RIP mutations do not seem to be limited to repeated sequences. Indeed, for example, in the phytopathogenic fungus <i>L. maculans</i>, RIP mutations are found in single copy regions, adjacent to the repeated elements. These regions are either non-coding regions or genes encoding small secreted proteins including avirulence genes. The degree of RIP within these single copy regions was proportional to their proximity to repetitive elements.<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> </p><p>Rep and Kistler have speculated that the presence of highly repetitive regions containing transposons, may promote mutation of resident effector genes.<sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> So the presence of effector genes within such regions is suggested to promote their adaptation and diversification when exposed to strong selection pressure.<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </p><p>As RIP mutation is traditionally observed to be restricted to repetitive regions and not single copy regions, Fudal <i>et al.</i><sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> suggested that leakage of RIP mutation might occur within a relatively short distance of a RIP-affected repeat. Indeed, this has been reported in <i>N. crassa</i> whereby leakage of RIP was detected in single copy sequences at least 930 bp from the boundary of neighbouring duplicated sequences.<sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> To elucidate the mechanism of detection of repeated sequences leading to RIP may allow to understand how the flanking sequences may also be affected. </p> <div class="mw-heading mw-heading3"><h3 id="Mechanism">Mechanism</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=13" title="Edit section: Mechanism"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>RIP causes <a href="/wiki/Guanine" title="Guanine">G</a>:<a href="/wiki/Cytosine" title="Cytosine">C</a> to <a href="/wiki/Adenine" title="Adenine">A</a>:<a href="/wiki/Thymine" title="Thymine">T</a> <a href="/wiki/Transition_(genetics)" title="Transition (genetics)">transition</a> mutations within repeats, however, the mechanism that detects the repeated sequences is unknown. RID is the only known protein essential for RIP. It is a DNA methyltransferease-like protein, that when mutated or knocked out results in loss of RIP.<sup id="cite_ref-pmid12072568_32-0" class="reference"><a href="#cite_note-pmid12072568-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> Deletion of the <i>rid</i> homolog in <i><a href="/wiki/Aspergillus_nidulans" title="Aspergillus nidulans">Aspergillus nidulans</a></i>, <i>dmtA</i>, results in loss of fertility<sup id="cite_ref-pmid18575630_33-0" class="reference"><a href="#cite_note-pmid18575630-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> while deletion of the <i>rid</i> homolog in <i><a href="/w/index.php?title=Ascobolus_immersens&action=edit&redlink=1" class="new" title="Ascobolus immersens (page does not exist)">Ascobolus immersens</a></i>, <i>masc1</i>, results in fertility defects and loss of <a href="/wiki/Methylation_induced_premeiotically" title="Methylation induced premeiotically">methylation induced premeiotically (MIP)</a>.<sup id="cite_ref-pmid9346245_34-0" class="reference"><a href="#cite_note-pmid9346245-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Consequences">Consequences</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=14" title="Edit section: Consequences"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>RIP is believed to have evolved as a defense mechanism against <a href="/wiki/Transposon" class="mw-redirect" title="Transposon">transposable elements</a>, which resemble <a href="/wiki/Parasitism" title="Parasitism">parasites</a> by invading and multiplying within the genome. RIP creates multiple <a href="/wiki/Missense_mutation" title="Missense mutation">missense</a> and <a href="/wiki/Nonsense_mutation" title="Nonsense mutation">nonsense mutations</a> in the coding sequence. This hypermutation of G-C to A-T in repetitive sequences eliminates functional <a href="/wiki/Gene_product" title="Gene product">gene products</a> of the sequence (if there were any to begin with). In addition, many of the C-bearing nucleotides become <a href="/wiki/Methylation" title="Methylation">methylated</a>, thus decreasing transcription. </p> <div class="mw-heading mw-heading3"><h3 id="Use_in_molecular_biology">Use in molecular biology</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=15" title="Edit section: Use in molecular biology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Because RIP is so efficient at detecting and mutating repeats, fungal biologists often use it as a tool for <a href="/wiki/Mutagenesis" title="Mutagenesis">mutagenesis</a>. A second copy of a single-copy <a href="/wiki/Gene" title="Gene">gene</a> is first <a href="/wiki/Transformation_(genetics)" class="mw-redirect" title="Transformation (genetics)">transformed</a> into the <a href="/wiki/Genome" title="Genome">genome</a>. The fungus must then <a href="/wiki/Mating" title="Mating">mate</a> and go through its sexual cycle to activate the RIP machinery. Many different mutations within the duplicated gene are obtained from even a single fertilization event so that inactivated alleles, usually due to <a href="/wiki/Nonsense_mutations" class="mw-redirect" title="Nonsense mutations">nonsense mutations</a>, as well as alleles containing <a href="/wiki/Missense_mutations" class="mw-redirect" title="Missense mutations">missense mutations</a> can be obtained.<sup id="cite_ref-pmid2150906_35-0" class="reference"><a href="#cite_note-pmid2150906-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=16" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The cellular reproduction process of <a href="/wiki/Meiosis" title="Meiosis">meiosis</a> was discovered by <a href="/wiki/Oscar_Hertwig" title="Oscar Hertwig">Oscar Hertwig</a> in 1876. <a href="/wiki/Mitosis" title="Mitosis">Mitosis</a> was discovered several years later in 1882 by <a href="/wiki/Walther_Flemming" title="Walther Flemming">Walther Flemming</a>. </p><p>Hertwig studied sea urchins, and noticed that each egg contained one nucleus prior to fertilization and two nuclei after. This discovery proved that one spermatozoon could fertilize an egg, and therefore proved the process of meiosis. Hermann Fol continued Hertwig's research by testing the effects of injecting several spermatozoa into an egg, and found that the process did not work with more than one spermatozoon.<sup id="cite_ref-36" class="reference"><a href="#cite_note-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> </p><p>Flemming began his research of cell division starting in 1868. The study of cells was an increasingly popular topic in this time period. By 1873, Schneider had already begun to describe the steps of cell division. Flemming furthered this description in 1874 and 1875 as he explained the steps in more detail. He also argued with Schneider's findings that the nucleus separated into rod-like structures by suggesting that the nucleus actually separated into threads that in turn separated. Flemming concluded that cells replicate through cell division, to be more specific mitosis.<sup id="cite_ref-37" class="reference"><a href="#cite_note-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Matthew_Meselson" title="Matthew Meselson">Matthew Meselson</a> and <a href="/wiki/Franklin_Stahl" title="Franklin Stahl">Franklin Stahl</a> are credited with the discovery of <a href="/wiki/DNA_replication" title="DNA replication">DNA replication</a>. <a href="/wiki/James_D._Watson" class="mw-redirect" title="James D. Watson">Watson</a> and <a href="/wiki/Francis_Crick" title="Francis Crick">Crick</a> acknowledged that the structure of DNA did indicate that there is some form of replicating process. However, there was not a lot of research done on this aspect of DNA until after Watson and Crick. People considered all possible methods of determining the replication process of DNA, but none were successful until Meselson and Stahl. Meselson and Stahl introduced a heavy isotope into some DNA and traced its distribution. Through this experiment, Meselson and Stahl were able to prove that DNA reproduces semi-conservatively.<sup id="cite_ref-38" class="reference"><a href="#cite_note-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=17" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Missense_mRNA" title="Missense mRNA">Missense mRNA</a></li> <li><a href="/wiki/PAM_matrix" class="mw-redirect" title="PAM matrix">PAM matrix</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=18" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist reflist-columns references-column-width" style="column-width: 35em;"> <ol class="references"> <li id="cite_note-Point_Mutation_Def_BD-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-Point_Mutation_Def_BD_1-0">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://biologydictionary.net/point-mutation/">"Point Mutation"</a>. <i>Biology Dictionary</i>. 22 November 2016<span class="reference-accessdate">. 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Cell Biol</i>. <b>2</b> (1): 72–5. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2F35048077">10.1038/35048077</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11413469">11413469</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:205011982">205011982</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nat.+Rev.+Mol.+Cell+Biol.&rft.atitle=Walther+Flemming%3A+pioneer+of+mitosis+research&rft.volume=2&rft.issue=1&rft.pages=72-5&rft.date=2001-01&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A205011982%23id-name%3DS2CID&rft_id=info%3Apmid%2F11413469&rft_id=info%3Adoi%2F10.1038%2F35048077&rft.au=Paweletz+N&rfr_id=info%3Asid%2Fen.wikipedia.org%3APoint+mutation" class="Z3988"></span></span> </li> <li id="cite_note-38"><span class="mw-cite-backlink"><b><a href="#cite_ref-38">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFHolmes2001" class="citation book cs1">Holmes, Frederic Lawrence (2001). <span class="id-lock-registration" title="Free registration required"><a rel="nofollow" class="external text" href="https://archive.org/details/meselsonstahlrep0000holm"><i>Meselson, Stahl, and the replication of DNA : a history of "the most beautiful experiment in biology"</i></a></span>. Yale University Press. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-300-08540-2" title="Special:BookSources/978-0-300-08540-2"><bdi>978-0-300-08540-2</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Meselson%2C+Stahl%2C+and+the+replication+of+DNA+%3A+a+history+of+%22the+most+beautiful+experiment+in+biology%22&rft.pub=Yale+University+Press&rft.date=2001&rft.isbn=978-0-300-08540-2&rft.aulast=Holmes&rft.aufirst=Frederic+Lawrence&rft_id=https%3A%2F%2Farchive.org%2Fdetails%2Fmeselsonstahlrep0000holm&rfr_id=info%3Asid%2Fen.wikipedia.org%3APoint+mutation" class="Z3988"></span></span> </li> </ol></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Point_mutation&action=edit&section=19" title="Edit 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decoding="async" width="30" height="40" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/45px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/59px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></span></span></div> <div class="side-box-text plainlist">Wikimedia Commons has media related to <span style="font-weight: bold; font-style: italic;"><a href="https://commons.wikimedia.org/wiki/Category:Point_mutation" class="extiw" title="commons:Category:Point mutation">Point mutation</a></span>.</div></div> </div> <ul><li><a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?name=Point+Mutation">Point+Mutation</a> at the U.S. National Library of Medicine <a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">Medical Subject Headings</a> (MeSH)</li></ul> <div class="navbox-styles"><style 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.navbox-odd{background-color:transparent}.mw-parser-output .navbox .hlist td dl,.mw-parser-output .navbox .hlist td ol,.mw-parser-output .navbox .hlist td ul,.mw-parser-output .navbox td.hlist dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox .navbar{display:block;font-size:100%}.mw-parser-output .navbox-title .navbar{float:left;text-align:left;margin-right:0.5em}body.skin--responsive .mw-parser-output .navbox-image img{max-width:none!important}@media print{body.ns-0 .mw-parser-output .navbox{display:none!important}}</style></div><div role="navigation" class="navbox" aria-labelledby="Mutation" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style 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navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Insertion_(genetics)" title="Insertion (genetics)">Insertion</a></li> <li><a href="/wiki/Deletion_(genetics)" title="Deletion (genetics)">Deletion</a></li> <li>Substitution <ul><li><a href="/wiki/Transversion" title="Transversion">Transversion</a></li> <li><a href="/wiki/Transition_(genetics)" title="Transition (genetics)">Transition</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Mutation with respect to structure</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a class="mw-selflink selflink">Point mutation</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Nonsense_mutation" title="Nonsense mutation">Nonsense mutation</a></li> <li><a href="/wiki/Missense_mutation" title="Missense mutation">Missense mutation</a></li> <li><a href="/wiki/Conservative_mutation" class="mw-redirect" title="Conservative mutation">Conservative mutation</a></li> <li><a href="/wiki/Silent_mutation" title="Silent mutation">Silent mutation</a></li> <li><a href="/wiki/Frameshift_mutation" title="Frameshift mutation">Frameshift mutation</a></li> <li><a href="/wiki/Dynamic_mutation" title="Dynamic mutation">Dynamic mutation</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Large-scale mutation</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">Chromosomal translocations</a></li> <li><a href="/wiki/Chromosomal_inversion" title="Chromosomal inversion">Chromosomal inversions</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Mutation with respect to overall fitness</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Deleterious mutation</a></li> <li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Advantageous mutation</a></li> <li><a href="/wiki/Neutral_mutation" title="Neutral mutation">Neutral mutation</a></li> <li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Nearly neutral mutation</a></li> <li><a href="/wiki/Synonymous_substitution" title="Synonymous substitution">Synonymous mutation</a></li> <li><a href="/wiki/Nonsynonymous_substitution" title="Nonsynonymous substitution">Nonsynonymous mutation</a></li></ul> </div></td></tr></tbody></table></div> <p 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