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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Table 6. [Notable AR Variants]." /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Albert La Spada" /><meta name="DC.Date" content="2022/12/15" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK1333/table/kennedy.T.notable_ar_variants/" /><meta name="description" content="Notable AR Variants" /><meta name="bk-non-canon-loc" content="/books/n/gene/kennedy/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK1333/table/kennedy.T.notable_ar_variants/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="kennedy.T.notable_ar_variants" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Notable <i>AR</i> Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1333/table/kennedy.T.notable_ar_variants/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__kennedy.T.notable_ar_variants_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_kennedy.T.notable_ar_variants_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_kennedy.T.notable_ar_variants_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variant Classification</th><th id="hd_h_kennedy.T.notable_ar_variants_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_kennedy.T.notable_ar_variants_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th></tr></thead><tbody><tr><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000044.3" target="mainwindow" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_000044<wbr style="display:inline-block"></wbr>.3</a>
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<br />
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_000035.2" target="mainwindow" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_000035<wbr style="display:inline-block"></wbr>.2</a>
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</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Benign</b>
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</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.172_174CAG(7_34)<br />(CAG ?-34 repeats)</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_4" rowspan="4" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 1.</td></tr><tr><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Unknown</b>
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</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.172_174CAG(35)<br />(CAG 35 repeats)</td></tr><tr><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Reduced-<a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> <a class="def" href="/books/n/gene/glossary/def-item/allele/">allele</a></b>
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</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.172_174CAG(36_37)<br />(CAG 36-37 repeats)</td></tr><tr><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Pathogenic</b>
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</td><td headers="hd_h_kennedy.T.notable_ar_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.172_174CAG(38_68)<br />(CAG 38-? repeats)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the author. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" target="mainwindow" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>.hgvs.org</a>). See <a href="/books/n/gene/app3/" target="mainwindow">Quick Reference</a> for an explanation of nomenclature.</p></div></dd><dt>1. </dt><dd><div id="kennedy.TF.6.1"><p class="no_margin">Each CAG repeat results in the addition of a glutamine residue to the polymorphic polyglutamine repeat.</p></div></dd></dl></div></div></div><div id="bk_toc_contnr"></div></div></div>
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