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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK1113_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK1113_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=content-footer&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div></div></div></div>
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<div class="main-content lit-style"><div class="body-content whole_rhythm"><div id="pxe.T.notable_abcc6_pathogenic_variants" class="table"><h3><span class="label">Table 7. </span></h3><div class="caption"><p>Notable <i>ABCC6</i> Pathogenic Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1113/table/pxe.T.notable_abcc6_pathogenic_variants/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__pxe.T.notable_abcc6_pathogenic_variants_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_pxe.T.notable_abcc6_pathogenic_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_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide<br />Change</th><th id="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted<br />Protein Change</th><th id="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment [Reference]</th></tr></thead><tbody><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001171.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001171<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001162.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001162<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.3421C>T</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1141Ter</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:top;">Most common (in descending order) disease-associated variants in European populations [<a class="bk_pop" href="/books/NBK1113/#pxe.REF.legrand.2017.909" data-bk-pop-rid="/books/NBK1113/def-item/pxe.REF.legrand.2017.909/" data-bk-pop-others="">Legrand et al 2017</a>]</td></tr><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001171.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001171<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 23-29 <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a></td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td></tr><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_1" rowspan="2" 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_001171.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001171<wbr style="display:inline-block"></wbr>.5</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001162.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001162<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.2542delG</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Val848CysfsTer83</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_4" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">Most common (in descending order) pathogenic variants in the Japanese population [<a class="bk_pop" href="/books/NBK1113/#pxe.REF.iwanaga.2017.644" data-bk-pop-rid="/books/NBK1113/def-item/pxe.REF.iwanaga.2017.644/" data-bk-pop-others="">Iwanaga et al 2017</a>]</td></tr><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.1132C>T</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Glu378Ter</td></tr><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001171.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001171<wbr style="display:inline-block"></wbr>.5</a>
|
||
</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exon 1-4 <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a></td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td></tr><tr><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001171.5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001171<wbr style="display:inline-block"></wbr>.5</a>
|
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<br />
|
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<a href="https://www.ncbi.nlm.nih.gov/protein/NP_001162.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001162<wbr style="display:inline-block"></wbr>.4</a>
|
||
</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.4015C>T</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg1339Cys</td><td headers="hd_h_pxe.T.notable_abcc6_pathogenic_variants_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Founder variant that accounts for ~50% of disease alleles in the Afrikaner population [<a class="bk_pop" href="/books/NBK1113/#pxe.REF.le_saux.2002.331" data-bk-pop-rid="/books/NBK1113/def-item/pxe.REF.le_saux.2002.331/" data-bk-pop-others="">Le Saux et al 2002</a>]</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 authors. <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/" 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/">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></div></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK1113" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK1113" style="display:none" title="Cite this Page"><div class="bk_tt">Terry SF, Uitto J. Pseudoxanthoma Elasticum. 2001 Jun 5 [Updated 2020 Jun 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Table 7. 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