Selection of notable <a href="https://en.wikipedia.org/wiki/mutation" class="extiw" title="en:mutation">mutations</a>, ordered in a standard table of the <a href="https://en.wikipedia.org/wiki/genetic_code" class="extiw" title="en:genetic code">genetic code</a> of <a href="https://en.wikipedia.org/wiki/amino_acid" class="extiw" title="en:amino acid">amino acids</a>. 
<p>As can be seen, clinically important <a href="https://en.wikipedia.org/wiki/missense_mutation" class="extiw" title="en:missense mutation">missense mutations</a> generally change the properties of the coded amino acid residue between being basic, acidic, polar or nonpolar, while <a href="https://en.wikipedia.org/wiki/nonsense_mutation" class="extiw" title="en:nonsense mutation">nonsense mutations</a> result in a <a href="https://en.wikipedia.org/wiki/Stop_codon" class="extiw" title="en:Stop codon">stop codon</a>.
</p><p>In the case of cancers, mutations cause aggravation of the conditions by impairing <a href="https://en.wikipedia.org/wiki/Tumor_suppressor_gene" class="extiw" title="en:Tumor suppressor gene">tumor suppressors</a> or activating <a href="https://en.wikipedia.org/wiki/Oncogene" class="extiw" title="en:Oncogene">oncogenes</a>.
</p><p>Every U (uracil) in the mRNA corresponds to a T (thymine) in the original DNA. Therefore, mutations are often noted using T rather than U.
</p>
<h3><span class="mw-headline" id="Mutations_mentioned">Mutations mentioned</span></h3>
<ul><li>Sickle-cell disease: GAG to GTG in the hemoglobin gene <sup id="cite_ref-kimball_1-0" class="reference"><a href="#cite_note-kimball-1">[1]</a></sup></li>
<li>Huntington's disease: CAG insertions, which adds a string of glutamines to Huntingtin<sup id="cite_ref-kimball_1-1" class="reference"><a href="#cite_note-kimball-1">[1]</a></sup></li>
<li>Friedreich's ataxia: In most cases, the mutant frataxin gene contains expanded GAA triplet repeats in the first intron;<sup id="cite_ref-2" class="reference"><a href="#cite_note-2">[2]</a></sup></li>
<li>Dentatorubral-pallidoluysian atrophy (DRPLA), caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3">[3]</a></sup></li>
<li>Kennedy's disease, caused by expansion of a CAG repeat in the first exon of the androgen receptor gene.<sup id="cite_ref-pmid2062380_4-0" class="reference"><a href="#cite_note-pmid2062380-4">[4]</a></sup></li>
<li>Fragile X Syndrome: CGG insertions on the X chromosome.<sup id="cite_ref-kimball_1-2" class="reference"><a href="#cite_note-kimball-1">[1]</a></sup> Practically, however, these are not related to arginine, because the mutations are located in the <a href="https://en.wikipedia.org/wiki/5%27_untranslated_region" class="extiw" title="en:5' untranslated region">5' untranslated region</a>.</li>
<li>CTG in myotonic dystrophy.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5">[5]</a></sup></li>
<li>Spinocerebellar ataxia. Many types are caused by CAG repeats, see <a href="https://en.wikipedia.org/wiki/Spinocerebellar_ataxia#Treatment_and_prognosis" class="extiw" title="wikipedia:Spinocerebellar ataxia">Wikipedia:Spinocerebellar ataxia#Treatment and prognosis</a> for details.
<ul><li>Spinocerebellar ataxia: CTG <sup id="cite_ref-6" class="reference"><a href="#cite_note-6">[6]</a></sup></li></ul></li>
<li>β-thalassemia (β-globin gene)
<ul><li>C to U resulting in stop signal UAG <sup id="cite_ref-Cuschieri_7-0" class="reference"><a href="#cite_note-Cuschieri-7">[7]</a></sup></li>
<li>also UGG to UGA<sup id="cite_ref-Marks_8-0" class="reference"><a href="#cite_note-Marks-8">[8]</a></sup></li></ul></li>
<li>D1822V by GAC-&gt;GTC<sup id="cite_ref-9" class="reference"><a href="#cite_note-9">[9]</a></sup> is the most common missense APC variant described to date in colorectal cancer.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10">[10]</a></sup></li>
<li>A49T (GCC to ACC)<sup id="cite_ref-Hayes_11-0" class="reference"><a href="#cite_note-Hayes-11">[11]</a></sup>, V63M and V89L<sup id="cite_ref-Hayes_11-1" class="reference"><a href="#cite_note-Hayes-11">[11]</a></sup> are the most common missense substitutions in prostatic or type II steroid 5alpha-reductase gene in prostate cancer tissue.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12">[12]</a></sup></li>
<li>p.R50X is the most common nonsense mutation in myophosphorylase in <a href="https://en.wikipedia.org/wiki/McArdle%27s_disease" class="extiw" title="en:McArdle's disease">McArdle's disease</a>,<sup id="cite_ref-13" class="reference"><a href="#cite_note-13">[13]</a></sup> the most common <a href="https://en.wikipedia.org/wiki/Glycogen_storage_disease" class="extiw" title="en:Glycogen storage disease">Glycogen storage disease</a></li></ul><h3><span class="mw-headline" id="References">References</span></h3>
<div class="reflist" style="list-style-type: decimal;">
<ol class="references"><li id="cite_note-kimball-1"><span class="mw-cite-backlink">↑ <a href="#cite_ref-kimball_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-kimball_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-kimball_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html">Kimball's Biology Pages --&gt; Mutations</a> Retrieved on July 18, 2009. Author: John W. Kimball</span>
</li>
<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://hmg.oxfordjournals.org/cgi/content/abstract/6/8/1261">The Friedreich ataxia GAA triplet repeat: premutation and normal alleles</a> L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, F Cavalcanti, L Pianese, L Iodice, G Farina, A Monticelli, M Turano, A Filla, G De Michele and S Cocozza. Human Molecular Genetics, Vol 6, 1261-1266</span>
</li>
<li id="cite_note-3"><span class="mw-cite-backlink"><a href="#cite_ref-3">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1692599">Molecular pathology of dentatorubral-pallidoluysian atrophy.</a> I Kanazawa. Philos Trans R Soc Lond B Biol Sci. 1999 June 29; 354(1386): 1069–1074. PMCID: PMC1692599 </span>
</li>
<li id="cite_note-pmid2062380-4"><span class="mw-cite-backlink"><a href="#cite_ref-pmid2062380_4-0">↑</a></span> <span class="reference-text"><cite style="font-style:normal">La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (July 1991). "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy". <i>Nature</i> <b>352</b> (6330): 77–9. <a href="https://en.wikipedia.org/wiki/Digital_object_identifier" class="extiw" title="w:Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038/352077a0">10.1038/352077a0</a>. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/2062380">2062380</a>.</cite></span>
</li>
<li id="cite_note-5"><span class="mw-cite-backlink"><a href="#cite_ref-5">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://books.google.com/books?id=j7lAYPZick4C&amp;printsec=frontcover&amp;source=gbs_navlinks_s#v=onepage&amp;q=&amp;f=false">Page 88</a> in: Title: COLOR ATLAS OF GENETICS. Author: CEBERHARD PASSARGE, M.D. ISBN: C1588903362, 9781588903365 Length: 486 pages</span>
</li>
<li id="cite_note-6"><span class="mw-cite-backlink"><a href="#cite_ref-6">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://content.karger.com/ProdukteDB/produkte.asp?Doi=72852">Molecular genetics of spinocerebellar ataxia type 8 (SCA8)</a> A.K. Mosemillera,c, J.C. Daltona,c, J.W. Dayb,c, L.P.W. Ranuma,c. Nucleotide and Protein Expansions and Human Disease. </span>
</li>
<li id="cite_note-Cuschieri-7"><span class="mw-cite-backlink"><a href="#cite_ref-Cuschieri_7-0">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://staff.um.edu.mt/acus1/5Mutations.htm">Mutations</a> By Professor A. Cuschieri.Department of Anatomy. University of Malta. Retrieved on July 18, 2009</span>
</li>
<li id="cite_note-Marks-8"><span class="mw-cite-backlink"><a href="#cite_ref-Marks_8-0">↑</a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://books.google.se/books?id=HHK7S7t47BEC&amp;pg=PA258&amp;lpg=PA258&amp;dq=missense+mutations+examples+replaced+by&amp;source=bl&amp;ots=e6vrSM_ZUJ&amp;sig=IoY0mtFrbJPctDjKhJmABRWoS9c&amp;hl=sv&amp;ei=GfxhSqmcGIzz-QbRkKybDw&amp;sa=X&amp;oi=book_result&amp;ct=result&amp;resnum=5">Page 258</a> in: <cite class="book" style="font-style:normal">Colleen Smith; Lieberman, Michael; Marks, Dawn B.; Allan D. Marks (2009)      <i> Marks' Basic medical biochemistry: a clinical approach</i>, <a href="https://en.wikipedia.org/wiki/en:Philadelphia" class="extiw" title="w:en:Philadelphia"><span title="largest city in Pennsylvania, United States">Philadelphia</span></a>:  Wolters Kluwer Health/Lippincott Williams &amp; Wilkins  <small><a href="https://en.wikipedia.org/wiki/International_Standard_Book_Number" class="extiw" title="en:International Standard Book Number">ISBN</a>:  <a href="//commons.wikimedia.org/wiki/Special:BookSources/0-7817-7022-X" title="Special:BookSources/0-7817-7022-X">0-7817-7022-X</a>. </small></cite></span>
</li>
<li id="cite_note-9"><span class="mw-cite-backlink"><a href="#cite_ref-9">↑</a></span> <span class="reference-text"> <cite style="font-style:normal">Guerreiro CS, Cravo ML, Brito M, Vidal PM, Fidalgo PO, Leitão CN (June 2007). "The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons". <i>Am. J. Clin. Nutr.</i> <b>85</b> (6): 1592–7. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/17556698">17556698</a>.</cite></span>
</li>
<li id="cite_note-10"><span class="mw-cite-backlink"><a href="#cite_ref-10">↑</a></span> <span class="reference-text"><cite style="font-style:normal">Cleary SP, Kim H, Croitoru ME, <i>et al.</i> (October 2008). "Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk". <i>Dis. Colon Rectum</i> <b>51</b> (10): 1467–73; discussion 1473–4. <a href="https://en.wikipedia.org/wiki/Digital_object_identifier" class="extiw" title="w:Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007/s10350-008-9356-7">10.1007/s10350-008-9356-7</a>. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/18612690">18612690</a>.</cite></span>
</li>
<li id="cite_note-Hayes-11"><span class="mw-cite-backlink">↑ <a href="#cite_ref-Hayes_11-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Hayes_11-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"> <cite style="font-style:normal">Hayes VM, Severi G, Padilla EJ, <i>et al.</i> (February 2007). "5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia". <i>Int. J. Cancer</i> <b>120</b> (4): 776–80. <a href="https://en.wikipedia.org/wiki/Digital_object_identifier" class="extiw" title="w:Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002/ijc.22408">10.1002/ijc.22408</a>. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/17136762">17136762</a>.</cite></span>
</li>
<li id="cite_note-12"><span class="mw-cite-backlink"><a href="#cite_ref-12">↑</a></span> <span class="reference-text"><cite style="font-style:normal">Makridakis N, Akalu A, Reichardt JK (September 2004). "Identification and characterization of somatic steroid 5alpha-reductase (SRD5A2) mutations in human prostate cancer tissue". <i>Oncogene</i> <b>23</b> (44): 7399–405. <a href="https://en.wikipedia.org/wiki/Digital_object_identifier" class="extiw" title="w:Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038/sj.onc.1207922">10.1038/sj.onc.1207922</a>. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/15326487">15326487</a>.</cite></span>
</li>
<li id="cite_note-13"><span class="mw-cite-backlink"><a href="#cite_ref-13">↑</a></span> <span class="reference-text"> <cite style="font-style:normal">García-Consuegra I, Rubio JC, Nogales-Gadea G, <i>et al.</i> (March 2009). "Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA". <i>J. Med. Genet.</i> <b>46</b> (3): 198–202. <a href="https://en.wikipedia.org/wiki/Digital_object_identifier" class="extiw" title="w:Digital object identifier">DOI</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136/jmg.2008.059469">10.1136/jmg.2008.059469</a>. <a href="https://en.wikipedia.org/wiki/PMID" class="extiw" title="w:PMID">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/19251976">19251976</a>.</cite></span>
</li>
</ol></div>
<a href="//commons.wikimedia.org/wiki/User:Mikael_H%C3%A4ggstr%C3%B6m" title="User:Mikael Häggström">Mikael Häggström</a>
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