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**                                                                                          **
**                                         SNPs&GO                                          **
**                  Predicting disease associated variation using GO terms                  **
**                                                                                          **
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      PDB: pdb7zxn.spdb Chain: A

      Mutation     Prediction   RI  Probability   Method
         S198F        Disease    6        0.812   PANTHER:  F[S]=65% F[F]=0% 
         S198F        Disease    9        0.971   S3Ds&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
             S3D-PROF:  SVM input is the protein structure and profile at the mutated position
             SNPs&GO:  SVM input is sequence and profile information and GO term features
             S3Ds&GO:  SVM input is all the input in S3D-PROF, PANTHER and GO term features
      F[X]: Frequency of residue X in the sequence profile
      Nali: Number of aligned sequences in the mutated site
      RSA:  Relative Solvent Accesible Area

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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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