Difference between revisions of "Task 6: Sequence-based mutation analysis"
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=== R408W === |
=== R408W === |
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− | == Predicting the effect of mutations with SNAP, SIFT |
+ | == Predicting the effect of mutations with SNAP, SIFT and Polyphen2 == |
=== SNAP === |
=== SNAP === |
Revision as of 14:51, 24 June 2011
Contents
Task description
A detailed task description can be found here.
Mutation selection
We selected the following ten mutations:
- I65T
- R71H
- R158Q
- R261Q
- T266A
- P275S
- T278N
- P281L
- G312D
- R408W
5 of these mutations are associated with our disease phenylketonuria the other 5 not. The 5 disease causing mutations are the most frequent missense/nonsense mutations of people who suffer from phenylketonuria. These numbers were taken from pahDB. However, at this point we are not going to tell which of these are the associated and which are not. We are going to lift this "secret" after our sequence based mutation analysis in order to validate our in silico generated predictions.
To keep our association secret we encrypted the file which contains the disease association for each mutation with the following linux command: "vim -x selected_mutations_and_association.txt"
The encrypted output is as follows:
The decryption can be only performed with the correct password.