Difference between revisions of "Task 9 (MSUD)"
From Bioinformatikpedia
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File:2bff_m82l.png|Local environment of residue 82. Original methionine is replaced by leucine. |
File:2bff_m82l.png|Local environment of residue 82. Original methionine is replaced by leucine. |
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File:2bff_a222t.png|Local environment of residue 222. Original alanine is replaced by threonine. |
File:2bff_a222t.png|Local environment of residue 222. Original alanine is replaced by threonine. |
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− | File:2bff_c264w.png|Local environment of residue 264. Original cysteine is replaced by tryptophan. |
+ | File:2bff_c264w.png|Local environment of residue 264. Original cysteine is replaced by tryptophan. Clearly, the mutant residue tryptophan clashes with the binding site (<span style="color:green;">Green</span>) for ion binding. |
File:2bff_r346h.png|Local environment of residue 346. Original arginine is replaced by histidine. |
File:2bff_r346h.png|Local environment of residue 346. Original arginine is replaced by histidine. |
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File:2bff_i361v.png|Local environment of residue 361. Original isoleucine is replaced by valine. |
File:2bff_i361v.png|Local environment of residue 361. Original isoleucine is replaced by valine. |
Revision as of 13:41, 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)