Difference between revisions of "Task 9 (MSUD)"
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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=== |
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Revision as of 11:20, 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)
Local environment of residue 82. Original methionine is replaced by leucine.
Local environment of residue 222. Original alanine is replaced by threonine.
Local environment of residue 264. Original cysteine is replaced by tryptophan.
Local environment of residue 346. Original arginine is replaced by histidine.
Local environment of residue 361. Original isoleucine is replaced by valine.
