|
Mutation |
Prediction |
RI |
Probability |
|
Method |
|
|
Disease |
8 | 0.887 | |
PANTHER: F[C]=80% F[Q]=0% |
|
Disease |
9 | 0.960 | |
S3Ds&GO | | |
Disease |
10 | 0.977 | |
PANTHER: F[C]=94% F[R]=0% |
|
Disease |
9 | 0.970 | |
S3Ds&GO | | |
Neutral |
8 | 0.106 | |
PANTHER: F[S]=10% F[L]=15% |
|
Neutral |
5 | 0.231 | |
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: Standard sequence-based SNPs&GO method.
S3Ds&GO: SVM input is all the input in S3D-PROF, PANTHER and GO terms
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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