Canavan Disease: Task 08 - Supplement
From Bioinformatikpedia
Link back to Task 08: Sequence-based Mutation Analysis
Contents
SIFT
<figtable id="sift">
| Results | ||||
|---|---|---|---|---|
| Mutation | Prediction | Prediction score | Median Sequence Conservation | Sequences represented at this Position |
| Arg233Trp | affect function | 0.00 | 2.99 | 18 |
| Asn121Asp | affect function | 0.03 | 2.99 | 18 |
| His21Pro | affect function | 0.00 | 3.02 | 17 |
| Ile157Thr | tolerated | 0.49 | 3.02 | 17 |
| Leu272Pro | affect function | 0.00 | 3.01 | 17 |
| Lys213Glu | tolerated | 0.92 | 2.99 | 18 |
| Pro149Ala | tolerated | 0.60 | 3.02 | 17 |
| Pro257Arg | tolerated | 0.13 | 3.01 | 17 |
| Thr166Ile | affect function | 0.05 | 3.02 | 17 |
| Tyr288Cys | affect function | 0.00 | 3.01 | 17 |
</figtable>
PolyPhen
<figtable id="poly">
| Results | ||||
|---|---|---|---|---|
| Mutation | Prediction | Prediction score | sensitivity | specificity |
| Arg233Trp | probably damaging | 1.000 | 0.00 | 1.00 |
| Asn121Asp | probably damaging | 0.978 | 0.76 | 0.96 |
| His21Pro | probably damaging | 1.000 | 0.00 | 1.00 |
| Ile157Thr | benign | 0.023 | 0.95 | 0.81 |
| Leu272Pro | probably damaging | 0.991 | 0.71 | 0.97 |
| Lys213Glu | benign | 0.003 | 0.98 | 0.44 |
| Pro149Ala | possibly damaging | 0.901 | 0.82 | 0.94 |
| Pro257Arg | possibly damaging | 0.13 | 0.00 | 0.00 |
| Thr166Ile | probably damaging | 0.993 | 0.70 | 0.97 |
| Tyr288Cys | probably damaging | 1.000 | 0.00 | 1.00 |
</figtable>
MutationTaster
<figtable id="muttast">
| Results | ||||
|---|---|---|---|---|
| Mutation | Prediction | Prediction Probability | ||
| Arg233Trp | disease causing | 0.99 | ||
| Asn121Asp | disease causing | 0.99 | ||
| His21Pro | disease causing | 0.99 | ||
| Ile157Thr | disease causing | 0.98 | ||
| Leu272Pro | disease causing | 0.99 | ||
| Lys213Glu | disease causing | 0.61 | ||
| Pro149Ala | disease causing | 0.99 | ||
| Pro257Arg | disease causing | 0.99 | ||
| Thr166Ile | disease causing | 0.99 | ||
| Tyr288Cys | disease causing | 0.99 | ||
</figtable>
SNAP
<figtable id="snap">
| Results | ||||
|---|---|---|---|---|
| Mutation | Prediction | SNAP score (simplified) | SNAP score | Prediction Probability |
| Arg233Trp | Non-neutral | 6 | 65 | 80% |
| Asn121Asp | Non-neutral | 7 | 73 | 85% |
| His21Pro | Non-neutral | 5 | 50 | 75% |
| Ile157Thr | Neutral | 8 | -84 | 93% |
| Leu272Pro | Non-neutral | 3 | 39 | 66% |
| Lys213Glu | Neutral | 9 | -90 | 97% |
| Pro149Ala | Neutral | 6 | -65 | 82% |
| Pro257Arg | Neutral | 8 | -82 | 93% |
| Thr166Ile | Non-neutral | 7 | 71 | 85% |
| Tyr288Cys | Non-neutral | 9 | 90 | 95% |
</figtable>
