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**                                                                                          **
**                                         SNPs&GO                                          **
**                  Predicting disease associated variation using GO terms                  **
**                                                                                          **
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      Sequence File: MMP8_HUMAN.seq

      Mutation     Prediction   RI  Probability   Method
         D169Y        Disease    9        0.959   PhD-SNP:  F[D]=88%  F[Y]=1%   Nali=701
         D169Y        Disease    9        0.947   PANTHER:  F[D]=83%  F[Y]=0%  
         D169Y        Disease    9        0.946   SNPs&GO

         D174Y        Disease    9        0.950   PhD-SNP:  F[D]=95%  F[Y]=1%   Nali=715
         D174Y        Disease   10        0.997   PANTHER:  F[D]=97%  F[Y]=0%  
         D174Y        Disease    9        0.939   SNPs&GO

         G175R        Disease    9        0.930   PhD-SNP:  F[G]=95%  F[R]=0%   Nali=719
         G175R        Disease    9        0.974   PANTHER:  F[G]=94%  F[R]=0%  
         G175R        Disease    8        0.907   SNPs&GO

         A215D        Disease    9        0.958   PhD-SNP:  F[A]=89%  F[D]=0%   Nali=728
         A215D        Disease    9        0.947   PANTHER:  F[A]=86%  F[D]=0%  
         A215D        Disease    8        0.899   SNPs&GO

         D253N        Disease    8        0.898   PhD-SNP:  F[D]=97%  F[N]=0%   Nali=714
         D253N        Disease   10        0.991   PANTHER:  F[D]=97%  F[N]=0%  
         D253N        Disease    7        0.871   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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