Difference between revisions of "Task 9 (MSUD)"
From Bioinformatikpedia
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For this task we have chosen 5 mutations from HGMD and dbSNP. 2 of them are neutral mutations which do not have functional changes over the protein structure. Following are the 5 mutations: |
For this task we have chosen 5 mutations from HGMD and dbSNP. 2 of them are neutral mutations which do not have functional changes over the protein structure. Following are the 5 mutations: |
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− | <span style="background-color:yellow; color:red;">'''TODO: TABLE'''</span> |
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+ | <table border=1> |
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+ | <tr style="font-weight:bold;"><td>Database</td><td>Accession_code</td><td>Mutation</td><td>Pathogenic</td></tr> |
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+ | <tr><td>dbSNP</td><td>rs11549938</td><td>M82L</td><td>False</td></tr> |
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+ | <tr><td>dbSNP</td><td>rs141086188</td><td>A222T</td><td>False</td></tr> |
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+ | <tr><td>HGMD</td><td>CM045934</td><td>C264W</td><td>True</td></tr> |
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+ | <tr><td>HGMD</td><td>CM062448</td><td>R346H</td><td>True</td></tr> |
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+ | <tr><td>dbSNP</td><td>rs61736656</td><td>I361V </td><td>False</td></tr> |
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+ | <tr><td></td></tr> |
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+ | </table> |
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===Visualization of mutant structures=== |
===Visualization of mutant structures=== |
Revision as of 12:20, 12 July 2013
Contents
Results
For this task we have chosen 5 mutations from HGMD and dbSNP. 2 of them are neutral mutations which do not have functional changes over the protein structure. Following are the 5 mutations:
Database | Accession_code | Mutation | Pathogenic |
dbSNP | rs11549938 | M82L | False |
dbSNP | rs141086188 | A222T | False |
HGMD | CM045934 | C264W | True |
HGMD | CM062448 | R346H | True |
dbSNP | rs61736656 | I361V | False |
Visualization of mutant structures
The mutagen tool of PyMOL was used to introduce mutations to the protein structure. Mutations and their neighboring residues are visualized and shown in following figures.
- Visualization of mutations in BCKDHA (PDB: 2BFF, all residue positions refer to the reference sequence of BCKDHA)