Difference between revisions of "Canavan Disease: Task 08 - Supplement"

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Link back to Task 08: [[Canavan_Disease:_Task_08_-_Sequence-based_Mutation_Analysis|Sequence-based Mutation Analysis]]
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==== SIFT ====
  
   
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== SIFT ==
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Complete result as shown by SIFT. SIFT was one of the most promising tools for a sequence based mutation analysis.
 
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<center><small>'''<caption>''' text </caption></small></center>
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<center><small>'''<caption>''' Complete result as shown by SIFT </caption></small></center>
 
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== PolyPhen ==
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Complete result as shown by PolyPhen. PolyPhen was the most promising tools for a sequence based mutation analysis.
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==== PolyPhen ====
  
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<center><small>'''<caption>''' Complete result as shown by PolyPhen </caption></small></center>
 
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==== MutationTaster ====
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== MutationTaster ==
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Complete result as shown by MutationTaster. MutationTaster was the least promising tools for a sequence based mutation analysis.
   
 
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<center><small>'''<caption>''' Complete result as shown by MutationTaster </caption></small></center>
 
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== SNAP ==
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Complete result as shown by SNAP. SNAP was also one of the most promising tools for a sequence based mutation analysis.
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==== SNAP ====
  
   
 
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<center><small>'''<caption>''' Complete result as shown by SNAP </caption></small></center>
 
</figtable>
  
</figtable>

Latest revision as of 20:06, 30 August 2013

Link back to Task 08: Sequence-based Mutation Analysis


SIFT

Complete result as shown by SIFT. SIFT was one of the most promising tools for a sequence based mutation analysis. <figtable id="sift">

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
Complete result as shown by SIFT

</figtable>

PolyPhen

Complete result as shown by PolyPhen. PolyPhen was the most promising tools for a sequence based mutation analysis.

<figtable id="poly">

PolyPhen - 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
Complete result as shown by PolyPhen

</figtable>


MutationTaster

Complete result as shown by MutationTaster. MutationTaster was the least promising tools for a sequence based mutation analysis.

<figtable id="muttast">

MutationTaster - 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
Complete result as shown by MutationTaster

</figtable>


SNAP

Complete result as shown by SNAP. SNAP was also one of the most promising tools for a sequence based mutation analysis.

<figtable id="snap">

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%
Complete result as shown by SNAP

</figtable>

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