Difference between revisions of "Task 8 (MSUD)"
From Bioinformatikpedia
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=== Polyphen2 === |
=== Polyphen2 === |
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| + | The prediction resuls of Polyphen2 are shown in the following table. 7 out of 10 mutations are predicted to be probably damaging (at least for the trained set HumDiv). |
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| + | {| class='wikitable' border='1' style='width:700px' |
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| + | ! |
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| + | ! colspan="4" | HumDiv |
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| + | ! colspan="4" | HumVar |
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| + | |- |
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| + | ! mutation !! prediction !! score !! sensitivity !! specificity !! prediction !! score !! sensitivity !! specificity |
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| + | |- |
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| + | | P38H || benign || 0.118 || 0.93 || 0.96 || benign || 0.042 || 0.93 || 0.62 |
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| + | |- |
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| + | | M82L || benign || 0.002 || 0.99 || 0.30 || benign || 0.006 || 0.97 || 0.45 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | T151M || probably damaging || 0.963 || 0.78 || 0.95 || possibly damaging || 0.622 || 0.80 || 0.85 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | A222T || probably damaging || 1.000 || 0.00 || 1.00 || probably damaging || 0.943 || 0.65 || 0.91 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | C264W || probably damaging || 0.989 || 0.72 || 0.97 || possibly damaging || 0.887 || 0.71 || 0.89 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | R265W || probably damaging || 1.000 || 0.00 || 1.00 || probably damaging || 1.000 || 0.00 || 1.00 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | R314Q || probably damaging || 1.000 || 0.00 || 1.00 || probably damaging || 0.998 || 0.18 || 0.98 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | R346H || probably damaging || 1.000 || 0.00 || 1.00 || probably damaging || 0.993 || 0.47 || 0.96 |
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| + | |- |
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| + | | I361V || benign || 0.386 || 0.90 || 0.89 || possibly damaging || 0.610 || 0.80 || 0.83 |
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| + | |- style="background-color: #FFBBBB;" |
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| + | | Y413H || probably damaging || 1.000 || 0.00 || 1.0 || probably damaging || 0.999 || 0.09 || 0.99 |
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| + | |} |
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=== MutationTaster === |
=== MutationTaster === |
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Revision as of 15:02, 27 June 2013
Results
SIFT
The following table shows the prediction of mutation effects by SIFT. 6 out of 10 mutations are predicted to affect protein function.
| mutation | prediction | score | median sequence conservation | sequences represented at position |
|---|---|---|---|---|
| P38H | tolerated | 0.16 | 3.16 | 17 |
| M82L | tolerated | 0.56 | 3.03 | 43 |
| T151M | tolerated | 0.05 | 3.03 | 46 |
| A222T | affect protein function | 0.04 | 3.03 | 46 |
| C264W | affect protein function | 0.00 | 3.03 | 46 |
| R265W | affect protein function | 0.00 | 3.03 | 46 |
| R314Q | affect protein function | 0.01 | 3.03 | 46 |
| R346H | affect protein function | 0.00 | 3.03 | 46 |
| I361V | tolerated | 0.12 | 3.03 | 46 |
| Y413H | affect protein function | 0.00 | 3.03 | 46 |
Polyphen2
The prediction resuls of Polyphen2 are shown in the following table. 7 out of 10 mutations are predicted to be probably damaging (at least for the trained set HumDiv).
| HumDiv | HumVar | |||||||
|---|---|---|---|---|---|---|---|---|
| mutation | prediction | score | sensitivity | specificity | prediction | score | sensitivity | specificity |
| P38H | benign | 0.118 | 0.93 | 0.96 | benign | 0.042 | 0.93 | 0.62 |
| M82L | benign | 0.002 | 0.99 | 0.30 | benign | 0.006 | 0.97 | 0.45 |
| T151M | probably damaging | 0.963 | 0.78 | 0.95 | possibly damaging | 0.622 | 0.80 | 0.85 |
| A222T | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.943 | 0.65 | 0.91 |
| C264W | probably damaging | 0.989 | 0.72 | 0.97 | possibly damaging | 0.887 | 0.71 | 0.89 |
| R265W | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 1.000 | 0.00 | 1.00 |
| R314Q | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.998 | 0.18 | 0.98 |
| R346H | probably damaging | 1.000 | 0.00 | 1.00 | probably damaging | 0.993 | 0.47 | 0.96 |
| I361V | benign | 0.386 | 0.90 | 0.89 | possibly damaging | 0.610 | 0.80 | 0.83 |
| Y413H | probably damaging | 1.000 | 0.00 | 1.0 | probably damaging | 0.999 | 0.09 | 0.99 |
