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		<title>Mutation:LDLR - Revision history</title>
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		<updated>2026-05-26T05:37:47Z</updated>
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		<id>http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286162&amp;oldid=prev</id>
		<title>Adm at 16:35, 15 July 2011</title>
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				<updated>2011-07-15T16:35:22Z</updated>
		
		<summary type="html">&lt;p&gt;&lt;/p&gt;
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			&lt;td colspan='2' style=&quot;background-color: white; color:black;&quot;&gt;← Older revision&lt;/td&gt;
			&lt;td colspan='2' style=&quot;background-color: white; color:black;&quot;&gt;Revision as of 16:35, 15 July 2011&lt;/td&gt;
			&lt;/tr&gt;&lt;tr&gt;&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 13:&lt;/td&gt;
&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 13:&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Well known mutations related with Familial Hypercholesterolemia (FH)&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Well known mutations related with Familial Hypercholesterolemia (FH)&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS&lt;/del&gt;:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;Mutation/&lt;/del&gt;LDLR/Mut/1012/T-A|C317S]] in exon 7&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;:LDLR/Mut/1012/T-A|C317S]] in exon 7&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS&lt;/del&gt;:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;Mutation/&lt;/del&gt;LDLR/Mut/2054/C-T|P664L]] in exon 14&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;:LDLR/Mut/2054/C-T|P664L]] in exon 14&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS&lt;/del&gt;:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;Mutation/&lt;/del&gt;LDLR/Mut/2431/A-T|K790X]] in exon 17&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;: [[&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;:LDLR/Mut/2431/A-T|K790X]] in exon 17&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;==Statistics==&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;==Statistics==&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Registered number of mutations ... {{#expr: {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Mut/}} + {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Del/}} + {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Ins/}} + {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/DelIns/}} }}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Registered number of mutations ... {{#expr: {{#countTitle:LDLR/Mut/&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}} + {{#countTitle:LDLR/Del/&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}} + {{#countTitle:LDLR/Ins/&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}} + {{#countTitle:LDLR/DelIns/&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}} }}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Single nucleotide substitution ... {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Mut}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Single nucleotide substitution ... {{#countTitle:LDLR/Mut&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Deletion ... {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Del}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Deletion ... {{#countTitle:LDLR/Del&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Insertion ... {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/Ins}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Insertion ... {{#countTitle:LDLR/Ins&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Deletion &amp;amp; Insertion ... {{#countTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/DelIns}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;* Deletion &amp;amp; Insertion ... {{#countTitle:LDLR/DelIns&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|Mutation&lt;/ins&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Mutation at each exon&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Mutation at each exon&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 35:&lt;/td&gt;
&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 35:&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|-&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|-&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;position&lt;/del&gt;=exon1$||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;^_position&lt;/ins&gt;=exon1$|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon2||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon2|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon3||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon3|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon4||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon4|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon5||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon5|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon6||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon6|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon7||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon7|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon8||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon8|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon9||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon9|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon10||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon10|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon11||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon11|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon12||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon12|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon13||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon13|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon14||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon14|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon15||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon15|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon16||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon16|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon17||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon17|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon18||&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;JAS:Mutation/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;| {{#CountLine:position=exon18|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;|LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Mutation at introns ... {{#CountLine:position=intron|&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;|JAS:&lt;/del&gt;Mutation&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;/&lt;/del&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;; Mutation at introns ... {{#CountLine:position=intron|Mutation&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;|&lt;/ins&gt;LDLR/_%}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;==Reported Mutations==&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;==Reported Mutations==&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 71:&lt;/td&gt;
&lt;td colspan=&quot;2&quot; class=&quot;diff-lineno&quot;&gt;Line 71:&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;!Reference&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;!Reference&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;{{#repeat:JAS/Mutation/Table/Row|1|&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;{{#repeat:JAS/Mutation/Table/Row|1|&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;−&lt;/td&gt;&lt;td style=&quot;background: #ffa; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;{{#SearchTitle:&lt;del class=&quot;diffchange diffchange-inline&quot;&gt;Mutation/&lt;/del&gt;LDLR/|}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;+&lt;/td&gt;&lt;td style=&quot;background: #cfc; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;{{#SearchTitle:LDLR/|&lt;ins class=&quot;diffchange diffchange-inline&quot;&gt;Mutation&lt;/ins&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;}}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;tr&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|}&lt;/div&gt;&lt;/td&gt;&lt;td class='diff-marker'&gt;&amp;#160;&lt;/td&gt;&lt;td style=&quot;background: #eee; color:black; font-size: smaller;&quot;&gt;&lt;div&gt;|}&lt;/div&gt;&lt;/td&gt;&lt;/tr&gt;
&lt;/table&gt;</summary>
		<author><name>Adm</name></author>	</entry>

	<entry>
		<id>http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286161&amp;oldid=prev</id>
		<title>Adm: /* Statistics */</title>
		<link rel="alternate" type="text/html" href="http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286161&amp;oldid=prev"/>
				<updated>2011-07-15T00:00:00Z</updated>
		
		<summary type="html">&lt;p&gt;‎&lt;span dir=&quot;auto&quot;&gt;&lt;span class=&quot;autocomment&quot;&gt;Statistics&lt;/span&gt;&lt;/span&gt;&lt;/p&gt;
&lt;table class='diff diff-contentalign-left'&gt;
			&lt;tr valign='top'&gt;
			&lt;td colspan='1' style=&quot;background-color: white; color:black;&quot;&gt;← Older revision&lt;/td&gt;
			&lt;td colspan='1' style=&quot;background-color: white; color:black;&quot;&gt;Revision as of 00:00, 15 July 2011&lt;/td&gt;
			&lt;/tr&gt;&lt;/table&gt;</summary>
		<author><name>Adm</name></author>	</entry>

	<entry>
		<id>http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286160&amp;oldid=prev</id>
		<title>Adm: /* Statistics */</title>
		<link rel="alternate" type="text/html" href="http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286160&amp;oldid=prev"/>
				<updated>2011-03-24T03:37:29Z</updated>
		
		<summary type="html">&lt;p&gt;‎&lt;span dir=&quot;auto&quot;&gt;&lt;span class=&quot;autocomment&quot;&gt;Statistics&lt;/span&gt;&lt;/span&gt;&lt;/p&gt;
&lt;table class='diff diff-contentalign-left'&gt;
			&lt;tr valign='top'&gt;
			&lt;td colspan='1' style=&quot;background-color: white; color:black;&quot;&gt;← Older revision&lt;/td&gt;
			&lt;td colspan='1' style=&quot;background-color: white; color:black;&quot;&gt;Revision as of 03:37, 24 March 2011&lt;/td&gt;
			&lt;/tr&gt;&lt;/table&gt;</summary>
		<author><name>Adm</name></author>	</entry>

	<entry>
		<id>http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286159&amp;oldid=prev</id>
		<title>Adm: /* Statistics */</title>
		<link rel="alternate" type="text/html" href="http://metabolomics.jp/mediawiki/index.php?title=Mutation:LDLR&amp;diff=286159&amp;oldid=prev"/>
				<updated>1970-01-01T00:00:00Z</updated>
		
		<summary type="html">&lt;p&gt;‎&lt;span dir=&quot;auto&quot;&gt;&lt;span class=&quot;autocomment&quot;&gt;Statistics&lt;/span&gt;&lt;/span&gt;&lt;/p&gt;
&lt;p&gt;&lt;b&gt;New page&lt;/b&gt;&lt;/p&gt;&lt;div&gt;{| class=&amp;quot;wikitable&amp;quot; style=&amp;quot;float:right&amp;quot;&lt;br /&gt;
! Other Links&lt;br /&gt;
|-&lt;br /&gt;
| [http://www.ncbi.nlm.nih.gov/gene/3949 NCBI Entrez Gene]&lt;br /&gt;
|-&lt;br /&gt;
| [http://genome.ucsc.edu/cgi-bin/hgTracks?position=LDLR UCSD GoldenPath]&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
==Low-Density Lipoprotein Receptor (LDLR)==&lt;br /&gt;
;Chromosomal Location: 19p13.3 ([http://www.ncbi.nlm.nih.gov/pubmed/3866240 Lindgren V et al. PNAS 1985, 82(24):8567])&lt;br /&gt;
&lt;br /&gt;
LDLR is the most intensively analyzed gene in patients with primary hyperlipidemia. It has 18 exons.&lt;br /&gt;
&lt;br /&gt;
; Well known mutations related with Familial Hypercholesterolemia (FH)&lt;br /&gt;
: [[JAS:Mutation/LDLR/Mut/1012/T-A|C317S]] in exon 7&lt;br /&gt;
: [[JAS:Mutation/LDLR/Mut/2054/C-T|P664L]] in exon 14&lt;br /&gt;
: [[JAS:Mutation/LDLR/Mut/2431/A-T|K790X]] in exon 17&lt;br /&gt;
&lt;br /&gt;
==Statistics==&lt;br /&gt;
; Registered number of mutations ... {{#expr: {{#countTitle:JAS:Mutation/LDLR/Mut/}} + {{#countTitle:JAS:Mutation/LDLR/Del/}} + {{#countTitle:JAS:Mutation/LDLR/Ins/}} + {{#countTitle:JAS:Mutation/LDLR/DelIns/}} }}&lt;br /&gt;
* Single nucleotide substitution ... {{#countTitle:JAS:Mutation/LDLR/Mut}}&lt;br /&gt;
* Deletion ... {{#countTitle:JAS:Mutation/LDLR/Del}}&lt;br /&gt;
* Insertion ... {{#countTitle:JAS:Mutation/LDLR/Ins}}&lt;br /&gt;
* Deletion &amp;amp; Insertion ... {{#countTitle:JAS:Mutation/LDLR/DelIns}}&lt;br /&gt;
&lt;br /&gt;
; Mutation at each exon&lt;br /&gt;
{| class=&amp;quot;wikitable&amp;quot; style=&amp;quot;text-align:center&amp;quot;&lt;br /&gt;
!&lt;br /&gt;
!colspan=&amp;quot;5&amp;quot;|&amp;lt;small&amp;gt;ligand binding domain (280 AA)&amp;lt;/small&amp;gt;&lt;br /&gt;
!colspan=&amp;quot;8&amp;quot;|&amp;lt;small&amp;gt;33 % identical to the human epidermal growth factor (400 AA)&amp;lt;/small&amp;gt;&lt;br /&gt;
!&amp;lt;small&amp;gt;O-linked sugar&amp;lt;/small&amp;gt;&lt;br /&gt;
!&amp;lt;small&amp;gt;membrane spanning&amp;lt;/small&amp;gt;&lt;br /&gt;
!colspan=&amp;quot;2&amp;quot;|&amp;lt;small&amp;gt;cytoplasmic domain&amp;lt;/small&amp;gt;&lt;br /&gt;
|-&lt;br /&gt;
| ex1 || ex2 || ex3 || ex4 || ex5 || ex6 || ex7 || ex8 || ex9 || ex10 || ex11 || ex12 || ex13 || ex14 || ex15 || ex16 || ex17 || ex18&lt;br /&gt;
|-&lt;br /&gt;
| {{#CountLine:position=exon1$||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon2||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon3||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon4||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon5||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon6||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon7||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon8||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon9||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon10||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon11||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon12||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon13||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon14||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon15||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon16||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon17||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
| {{#CountLine:position=exon18||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
|}&lt;br /&gt;
&lt;br /&gt;
; Mutation at introns ... {{#CountLine:position=intron||JAS:Mutation/LDLR/_%}}&lt;br /&gt;
&lt;br /&gt;
==Reported Mutations==&lt;br /&gt;
{| class=&amp;quot;wikitable sortable&amp;quot;&lt;br /&gt;
|+&lt;br /&gt;
!Page&lt;br /&gt;
!Position&lt;br /&gt;
!Structure&lt;br /&gt;
!Mutation&lt;br /&gt;
!Name&lt;br /&gt;
!Nucleotide change&lt;br /&gt;
!Effect on coding sequence&lt;br /&gt;
!Class&lt;br /&gt;
!Author&lt;br /&gt;
!Reference&lt;br /&gt;
{{#repeat:JAS/Mutation/Table/Row|1|&lt;br /&gt;
{{#SearchTitle:Mutation/LDLR/|}}&lt;br /&gt;
}}&lt;br /&gt;
|}&lt;/div&gt;</summary>
		<author><name>Adm</name></author>	</entry>

	</feed>