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Glucocerebrosidase mapping snps - Revision history
2024-03-29T06:05:42Z
Revision history for this page on the wiki
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Braunt: /* References */
2011-09-25T22:54:00Z
<p><span dir="auto"><span class="autocomment">References</span></span></p>
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Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12055&oldid=prev
Braunt: /* Statistical analyses */
2011-08-25T02:50:14Z
<p><span dir="auto"><span class="autocomment">Statistical analyses</span></span></p>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>On the other hand you can look at mutations that do not occur. For example alanine to arginine or tyrosine to histidine etc. For these replacements two mutations would be necessary. So the probability is lower. Of course there is also a correlation between the number of codons and the mutations. Methionine has only one codon so there are fewer possible mutations.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>On the other hand you can look at mutations that do not occur. For example alanine to arginine or tyrosine to histidine etc. For these replacements two mutations would be necessary. So the probability is lower. Of course there is also a correlation between the number of codons and the mutations. Methionine has only one codon so there are fewer possible mutations.</div></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>=== Conclusion ===</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>All in all we have two conclusions. The more codons encode an amino acid, the more mutations it has, the fewer codons encode an amino acid, the fewer mutations occur. And: The more similar the codons of different amino acids are, the more probable and frequent is a mutation. But there must also be something like a mutation bias because sometimes this is only true for one direction.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>All in all we have two conclusions. The more codons encode an amino acid, the more mutations it has, the fewer codons encode an amino acid, the fewer mutations occur. And: The more similar the codons of different amino acids are, the more probable and frequent is a mutation. But there must also be something like a mutation bias because sometimes this is only true for one direction.</div></td>
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Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12054&oldid=prev
Braunt: /* Synonymous mutations */
2011-08-25T02:47:51Z
<p><span dir="auto"><span class="autocomment">Synonymous mutations</span></span></p>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>[[File:how_often_which_aa_syn_mutation.png|thumb|600px|center|'''Figure 1:''' Diagram that shows how often which amino acid was mutated for synonymous mutations]]</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>[[File:how_often_which_aa_syn_mutation.png|thumb|600px|center|'''Figure 1:''' Diagram that shows how often which amino acid was mutated for synonymous mutations]]</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>First we want to look at the synonymous mutations. <del class="diffchange diffchange-inline">That</del> <del class="diffchange diffchange-inline">means</del> <del class="diffchange diffchange-inline">that</del> <del class="diffchange diffchange-inline">the codon is</del> mutated <del class="diffchange diffchange-inline">but</del> <del class="diffchange diffchange-inline">this</del> <del class="diffchange diffchange-inline">does not affect</del> the amino acid <del class="diffchange diffchange-inline">because</del> the <del class="diffchange diffchange-inline">mutated</del> codon <del class="diffchange diffchange-inline">encodes</del> <del class="diffchange diffchange-inline">the</del> <del class="diffchange diffchange-inline">same</del> <del class="diffchange diffchange-inline">amino</del> <del class="diffchange diffchange-inline">acid</del>. In <del class="diffchange diffchange-inline">our</del> case always the third position <del class="diffchange diffchange-inline">mutated</del> <del class="diffchange diffchange-inline">which</del> <del class="diffchange diffchange-inline">we</del> <del class="diffchange diffchange-inline">expected</del> <del class="diffchange diffchange-inline">because</del> <del class="diffchange diffchange-inline">there</del> <del class="diffchange diffchange-inline">are</del> <del class="diffchange diffchange-inline">many</del> <del class="diffchange diffchange-inline">amino</del> <del class="diffchange diffchange-inline">acids</del> <del class="diffchange diffchange-inline">for</del> <del class="diffchange diffchange-inline">which</del> <del class="diffchange diffchange-inline">several</del> <del class="diffchange diffchange-inline">codons</del> <del class="diffchange diffchange-inline">are</del> <del class="diffchange diffchange-inline">responsible</del> <del class="diffchange diffchange-inline">that only</del> differ <del class="diffchange diffchange-inline">in</del> <del class="diffchange diffchange-inline">the</del> third position.</div></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>First we want to look at the synonymous mutations. <ins class="diffchange diffchange-inline">Synonymous</ins> <ins class="diffchange diffchange-inline">mutations</ins> <ins class="diffchange diffchange-inline">describe</ins> <ins class="diffchange diffchange-inline">a</ins> mutated <ins class="diffchange diffchange-inline">codon</ins> <ins class="diffchange diffchange-inline">that</ins> <ins class="diffchange diffchange-inline">encodes</ins> the<ins class="diffchange diffchange-inline"> same</ins> amino acid <ins class="diffchange diffchange-inline">as</ins> the <ins class="diffchange diffchange-inline">original</ins> codon <ins class="diffchange diffchange-inline">and</ins> <ins class="diffchange diffchange-inline">therefore</ins> <ins class="diffchange diffchange-inline">does</ins> <ins class="diffchange diffchange-inline">not</ins> <ins class="diffchange diffchange-inline">affect the protein sequence</ins>. In <ins class="diffchange diffchange-inline">this</ins> case always the third position <ins class="diffchange diffchange-inline">of</ins> <ins class="diffchange diffchange-inline">the</ins> <ins class="diffchange diffchange-inline">codon</ins> <ins class="diffchange diffchange-inline">got</ins> <ins class="diffchange diffchange-inline">mutated.</ins> <ins class="diffchange diffchange-inline">This</ins> <ins class="diffchange diffchange-inline">is</ins> <ins class="diffchange diffchange-inline">not</ins> <ins class="diffchange diffchange-inline">surprising,</ins> <ins class="diffchange diffchange-inline">as</ins> <ins class="diffchange diffchange-inline">codons</ins> <ins class="diffchange diffchange-inline">that</ins> <ins class="diffchange diffchange-inline">encode</ins> <ins class="diffchange diffchange-inline">the</ins> <ins class="diffchange diffchange-inline">same</ins> <ins class="diffchange diffchange-inline">amino</ins> <ins class="diffchange diffchange-inline">acids</ins> differ <ins class="diffchange diffchange-inline">mostly</ins> <ins class="diffchange diffchange-inline">at their</ins> third position.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The amino acids that mutated most in synonymous mutations are arginine, glycine and proline, which you can see in <del class="diffchange diffchange-inline">figure</del> 1. If you look at the codon table <ref>http://en.wikipedia.org/wiki/Genetic_code</ref> there are six different codons for arginine, four for glycine and also four for proline. Glutamic acid, leucine, lysine, threonine and tyrosine mutated three times and they have two, six, two, four and two codons encoding the amino acids. You can see that the amino acids which mutate most often in synonymous mutations also have many codons. For the amino acids that mutate three times it is not as obvious as for <del class="diffchange diffchange-inline">them</del> <del class="diffchange diffchange-inline">which</del> <del class="diffchange diffchange-inline">mutate</del> four times.</div></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>The amino acids that mutated most in synonymous mutations are arginine, glycine and proline, which you can see in <ins class="diffchange diffchange-inline">Figure</ins> 1. If you look at the codon table <ref>http://en.wikipedia.org/wiki/Genetic_code</ref> there are six different codons for arginine, four for glycine and also four for proline. Glutamic acid, leucine, lysine, threonine and tyrosine mutated three times and they have two, six, two, four and two codons encoding the amino acids. You can see that the amino acids which mutate most often in synonymous mutations also have many codons. For the amino acids that mutate three times it is not as obvious as for <ins class="diffchange diffchange-inline">the</ins> <ins class="diffchange diffchange-inline">ones</ins> <ins class="diffchange diffchange-inline">mutating</ins> four times.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>Asparagine (two codons), aspartic acid (two codons), cysteine (two codons), histidine (two codons), isoleucine (three codons), methionine (one codon), phenylalanine (two codons) and tryptophane (one codon) have no synonymous mutations. As methionine and tryptophane have only one codon a synonymous mutation is not possible. For all the other cases <del class="diffchange diffchange-inline">you</del> can see that there are at most two codons which encode the amino acids. So there is only one possible mutation for the same amino acid.</div></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>Asparagine (two codons), aspartic acid (two codons), cysteine (two codons), histidine (two codons), isoleucine (three codons), methionine (one codon), phenylalanine (two codons) and tryptophane (one codon) have no synonymous mutations. As methionine and tryptophane have only one codon a synonymous mutation is not possible. For all the other cases <ins class="diffchange diffchange-inline">one</ins> can see that there are at most two codons which encode the<ins class="diffchange diffchange-inline"> corresponding</ins> amino acids. So there is only one possible mutation for the same amino acid.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The diagram shows us what we expected<del class="diffchange diffchange-inline">.</del> Amino acids with more codons should also have more synonymous mutations, which occurs in our case. It is not that clear if we look for example at valine (four codons) and glutamic acid (two codons). There might be a mutation bias or the number of observed mutations is too small to see the effect strong enough.</div></td>
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<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>The diagram shows us what we expected<ins class="diffchange diffchange-inline">:</ins> Amino acids with more codons should also have more synonymous mutations, which occurs in our case. It is not that clear if we look for example at valine (four codons) and glutamic acid (two codons). There might be a mutation bias or the number of observed mutations is too small to see the effect strong enough.</div></td>
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<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
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Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12053&oldid=prev
Braunt: /* Sequence */
2011-08-25T02:40:44Z
<p><span dir="auto"><span class="autocomment">Sequence</span></span></p>
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<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 02:40, 25 August 2011</td>
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<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The following sequence shows the different possibilities for mutated residues. As there are different mutations for the same position, all changed residues are shown, each in a separate line.</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>The following sequence shows the different possibilities for mutated residues. As there are different mutations for the same position, all changed residues are shown, each in a separate line<ins class="diffchange diffchange-inline">. The first row shows the original sequence, the second, third and fourth line show mutated residues. Positions for possible missense/nonsense mutations are marked <span style="color:#ff0000">red</span></ins>.</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><code></div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><code></div></td>
</tr>
<tr>
<td colspan="2" class="diff-lineno">Line 569:</td>
<td colspan="2" class="diff-lineno">Line 569:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><br/>ALMHPDGSAVVVVLN<span style="color:#ff0000">P</span>SSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><br/>ALMHPDGSAVVVVLN<span style="color:#ff0000">P</span>SSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><br/><br/></code></div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div><br/><br/></code></div></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"></td>
<td colspan="2" class="diff-empty"> </td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The first row shows the original sequence, the second, third and fourth line show mutated residues. Positions for possible missense/nonsense mutations are marked <span style="color:#ff0000">red</span>.</div></td>
<td colspan="2" class="diff-empty"> </td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== dbSNP: Mutations for GBA ==</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== dbSNP: Mutations for GBA ==</div></td>
</tr>
</table>
Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12052&oldid=prev
Braunt: /* Missense/nonsense mutations given for GBA */
2011-08-25T02:33:42Z
<p><span dir="auto"><span class="autocomment">Missense/nonsense mutations given for GBA</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 02:33, 25 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 63:</td>
<td colspan="2" class="diff-lineno">Line 63:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>The following table provides a detailed overview of the 236 missense/nonsense mutations found in GBA:</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>The following table provides a detailed overview of the 236 missense/nonsense mutations found in GBA:</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{| border="1" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{|<ins class="diffchange diffchange-inline"> align="center"</ins> border="1" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>!Codon change||Amino acid change||Codon number</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>!Codon change||Amino acid change||Codon number</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td>
</tr>
</table>
Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12051&oldid=prev
Braunt: /* Overview */
2011-08-25T02:33:17Z
<p><span dir="auto"><span class="autocomment">Overview</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 02:33, 25 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 29:</td>
<td colspan="2" class="diff-lineno">Line 29:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== Overview ===</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== Overview ===</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>To get the different mutation types for the GBA gene, which is the gene causing Gaucher Disease, [http://www.hgmd.cf.ac.uk/ac/ HMGD] was searched for GBA. <del class="diffchange diffchange-inline">As</del> <del class="diffchange diffchange-inline">result,</del> <del class="diffchange diffchange-inline">we</del> <del class="diffchange diffchange-inline">got</del> <del class="diffchange diffchange-inline">a</del> <del class="diffchange diffchange-inline">list</del> <del class="diffchange diffchange-inline">with</del> the <del class="diffchange diffchange-inline">different types of mutations found for</del> <del class="diffchange diffchange-inline">GBA:</del></div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>To get the different mutation types for the GBA gene, which is the gene causing Gaucher Disease, [http://www.hgmd.cf.ac.uk/ac/ HMGD] was searched for GBA. <ins class="diffchange diffchange-inline">The</ins> <ins class="diffchange diffchange-inline">resulting</ins> <ins class="diffchange diffchange-inline">different</ins> <ins class="diffchange diffchange-inline">mutation</ins> <ins class="diffchange diffchange-inline">types</ins> <ins class="diffchange diffchange-inline">are</ins> <ins class="diffchange diffchange-inline">shown in</ins> the <ins class="diffchange diffchange-inline">table</ins> <ins class="diffchange diffchange-inline">below.</ins></div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{| border="1" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{| border="1<ins class="diffchange diffchange-inline">" align="center</ins>" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>!mutation type||number of mutations</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>!mutation type||number of mutations</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td>
</tr>
<tr>
<td colspan="2" class="diff-lineno">Line 56:</td>
<td colspan="2" class="diff-lineno">Line 56:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|public total (HGMD Professional 2011.1 total)||303 (353)</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|public total (HGMD Professional 2011.1 total)||303 (353)</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|}</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|}</div></td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><br/><br/></div></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"></td>
<td colspan="2" class="diff-empty"> </td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>In this case, the missense/nonsense mutations are of interest, as they cause a change in the amino acid sequence. Such single point mutations seem to be responsible for Gaucher Disease, so the analysis is focused on them.</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>In this case, the missense/nonsense mutations are of interest, as they cause a change in the amino acid sequence. Such single point mutations seem to be responsible for Gaucher Disease, so the analysis is focused on them.</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
</table>
Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12050&oldid=prev
Braunt: /* Overview */
2011-08-25T02:31:47Z
<p><span dir="auto"><span class="autocomment">Overview</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 02:31, 25 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 29:</td>
<td colspan="2" class="diff-lineno">Line 29:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== Overview ===</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== Overview ===</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>To get the different mutation types for the GBA gene, which is the gene causing Gaucher Disease,<del class="diffchange diffchange-inline"> we searched</del> [http://www.hgmd.cf.ac.uk/ac/ HMGD] for GBA. As result, we got a list with the different types of mutations found for GBA:</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>To get the different mutation types for the GBA gene, which is the gene causing Gaucher Disease, [http://www.hgmd.cf.ac.uk/ac/ HMGD]<ins class="diffchange diffchange-inline"> was searched</ins> for GBA. As result, we got a list with the different types of mutations found for GBA:</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{| border="1" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{| border="1" style="text-align:center; border-spacing:0" cellpadding="2" cellspacing="3"</div></td>
</tr>
</table>
Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=12049&oldid=prev
Braunt: /* General */
2011-08-25T02:30:45Z
<p><span dir="auto"><span class="autocomment">General</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 02:30, 25 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 2:</td>
<td colspan="2" class="diff-lineno">Line 2:</td>
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<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== HGMD ===</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== HGMD ===</div></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">The </del>[http://www.hgmd.cf.ac.uk/ac/ HGMD<del class="diffchange diffchange-inline">] is</del> the Human Gene Mutation Database,<del class="diffchange diffchange-inline"> which</del> contains germline mutations that are linked to human diseases. There are several types of mutations:</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>[http://www.hgmd.cf.ac.uk/ac/ HGMD<ins class="diffchange diffchange-inline">,</ins> the Human Gene Mutation Database, contains germline mutations that are linked to human diseases. There are several types of mutations:</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* missense/nonsense: codon codes for a different amino acid/premature stop codon</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* missense/nonsense: codon codes for a different amino acid/premature stop codon</div></td>
</tr>
<tr>
<td colspan="2" class="diff-lineno">Line 16:</td>
<td colspan="2" class="diff-lineno">Line 16:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== dbSNP ===</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>=== dbSNP ===</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] <del class="diffchange diffchange-inline">is the Single Nucleotide Polymorphism Database by the</del> NCBI <del class="diffchange diffchange-inline">together with</del> the National Human Genome Research Institute (NHGRI)<del class="diffchange diffchange-inline">, which </del>was <del class="diffchange diffchange-inline">built</del> <del class="diffchange diffchange-inline">up</del> 1998. <ref>http://en.wikipedia.org/wiki/DbSNP</ref> It contains several types of mutations for 55 organisms including Homo Sapiens:</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>The <ins class="diffchange diffchange-inline">Single Nucleotide Polymorphism Database (</ins>[http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]<ins class="diffchange diffchange-inline">)</ins> <ins class="diffchange diffchange-inline">from</ins> NCBI <ins class="diffchange diffchange-inline">and</ins> the National Human Genome Research Institute (NHGRI)was <ins class="diffchange diffchange-inline">formed</ins> <ins class="diffchange diffchange-inline">in</ins> 1998. <ref>http://en.wikipedia.org/wiki/DbSNP</ref> It contains several types of mutations for 55 organisms including Homo Sapiens:</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* SNPs (single nucleotide polymorphisms)</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* SNPs (single nucleotide polymorphisms)</div></td>
</tr>
</table>
Braunt
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=11462&oldid=prev
Brunners: /* Positions where mutations occur */
2011-08-18T07:22:29Z
<p><span dir="auto"><span class="autocomment">Positions where mutations occur</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 07:22, 18 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 556:</td>
<td colspan="2" class="diff-lineno">Line 556:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div></code></div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div></code></div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">Posistions</del> for possible missense/nonsense mutations are marked <span style="background:#ff0000">red</span>.</div></td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">Positions</ins> for possible missense/nonsense mutations are marked <span style="background:#ff0000">red</span>.</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>==== Possible mutated amino acid residues ====</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>==== Possible mutated amino acid residues ====</div></td>
</tr>
</table>
Brunners
https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Glucocerebrosidase_mapping_snps&diff=11458&oldid=prev
Brunners: /* Non-synonymous mutations */
2011-08-18T07:17:21Z
<p><span dir="auto"><span class="autocomment">Non-synonymous mutations</span></span></p>
<table class="diff diff-contentalign-left" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #222; text-align: center;">Revision as of 07:17, 18 August 2011</td>
</tr><tr>
<td colspan="2" class="diff-lineno">Line 877:</td>
<td colspan="2" class="diff-lineno">Line 877:</td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>There are also mutations which only occur often in one direction. An example for that is valine to leucine. Four different codons encode valine (GU[AUCG]) and also four different codons encode leucine (CU[AUCG]), they only differ in the first position. The mutation guanine to cytosine seems to be more common than cytosine to guanine.</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>There are also mutations which only occur often in one direction. An example for that is valine to leucine. Four different codons encode valine (GU[AUCG]) and also four different codons encode leucine (CU[AUCG]), they only differ in the first position. The mutation guanine to cytosine seems to be more common than cytosine to guanine.</div></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>Tryptophan mutated five times to a termination codon. The reason here may also be the very similar codon. For tryptophan it is UGG and for the termination codon UGA, UAG and UAA. For UGA and UAG a mutation at the second or thir position in the codon of Tryptophan results is a termination codon.</div></td>
<td colspan="2" class="diff-empty"> </td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>Tryptophan mutated five times to a termination codon. The reason may also be the very similar codon. For tryptophan it is UGG and for the termination codon UGA, UAG and UAA. For UGA and UAG a mutation at the second or third position in the codon of tryptophan results in a termination codon.</div></td>
</tr>
<tr>
<td class="diff-marker">−</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>Another frequent mutation is tyrosine to cystein. This is another example for a mutation which occurs frequent into one direction. Here again the mutation of one codon position is sufficient as tyrosine has the codons UAC and UAU and cytosine the codons UGU and UGC. There seems to be a bias towards the mutation of arginine to guanine.</div></td>
<td colspan="2" class="diff-empty"> </td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>Another frequent mutation is tyrosine to cystein. This is another example for a mutation which occurs frequently into one direction. Here again the mutation of one codon position is sufficient as tyrosine has the codons UAC and UAU and cytosine the codons UGU and UGC. There seems to be a bias towards the mutation of arginine to guanine.</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>On the other hand you can look at mutations that do not occur. For example alanine to arginine or tyrosine to histidine etc. For these replacements two mutations would be necessary. So the probability is lower. Of course there is also a correlation between the number of codons and the mutations. Methionine has only one codon so there are fewer possible mutations.</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>On the other hand you can look at mutations that do not occur. For example alanine to arginine or tyrosine to histidine etc. For these replacements two mutations would be necessary. So the probability is lower. Of course there is also a correlation between the number of codons and the mutations. Methionine has only one codon so there are fewer possible mutations.</div></td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td colspan="2" class="diff-empty"> </td>
<td class="diff-marker">+</td>
<td style="color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>All in all we have two conclusions. The more codons encode an amino acid, the more mutations it has, the fewer codons encode an amino acid, the fewer mutations occur. And: The more similar the codons of different amino acids are, the more probable and frequent is a mutation. But there must also be something like a mutation bias because sometimes this is only true for one direction.</div></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"></td>
</tr>
<tr>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== References ==</div></td>
<td class="diff-marker"> </td>
<td style="background-color: #f8f9fa; color: #222; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== References ==</div></td>
</tr>
</table>
Brunners