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**                                                                                          **
**                                         SNPs&GO                                          **
**                  Predicting disease associated variation using GO terms                  **
**                                                                                          **
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      Sequence File: FBXW7_HUMAN.seq

      Mutation     Prediction   RI  Probability   Method
         M118I        Neutral    3        0.345   PhD-SNP:  F[M]=71%  F[I]=0%   Nali=6
         M118I   Unclassified   NA           NA   PANTHER:  F[M]=NA   F[I]=NA
         M118I        Neutral    5        0.239   SNPs&GO

         Y545S        Neutral    3        0.329   PhD-SNP:  F[Y]=13%  F[S]=8%   Nali=3357
         Y545S        Disease    5        0.759   PANTHER:  F[Y]=61%  F[S]=1%  
         Y545S        Disease    2        0.585   SNPs&GO

         L648Q        Disease    6        0.777   PhD-SNP:  F[L]=46%  F[Q]=1%   Nali=2766
         L648Q        Disease    6        0.778   PANTHER:  F[L]=44%  F[Q]=0%  
         L648Q        Disease    5        0.738   SNPs&GO


      Mutation: WT+POS+NEW
      WT:  Residue in wild-type protein
      POS: Residue position
      NEW: New residue after mutation
      Prediction:
             Neutral: Neutral variation
             Disease: Disease associated variation
      RI: Reliability Index
      Probability: Disease probability (if >0.5 mutation is predicted Disease)
      Method: SVM type and data
             PANTHER: Output of the PANTHER algorithm
             PhD-SNP:  SVM input is the sequence and profile at the mutated position
             SNPs&GO:  SVM input is all the input in PhD-SNP, PANTHER  and GO term features
      F[X]: Frequency of residue X in the sequence profile
      Nali: Number of aligned sequences in the mutated site

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**                                                                                          **
**     Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional    **
**     annotations improve the predictive score of human disease-related mutations in       **
**     proteins. Human Mutation. 30:1237-1244.                                              **
**                                                                                          **
**     Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari-    **
**     ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3.   **
**                                                                                          **
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