Meta-SNP: Meta-predictor of disease causing variants Cite: Capriotti et al. BMC Genomics 2013. Suppl 3:S2. WEB: http://snps.biofold.org/meta-snp Sequence File: SP.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile M118I NA Neutral NA Neutral Neutral 6 F[M]=71% F[I]=0% Nali=6 - 0.345 - 0.280 0.189 Y545S Disease Neutral Neutral Neutral Disease 2 F[Y]=13% F[S]=8% Nali=3357 0.759 0.329 0.070 0.420 0.584 L648Q Disease Disease Disease Disease Disease 3 F[L]=46% F[Q]=1% Nali=2766 0.778 0.777 0.000 0.555 0.639 Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variants Disease: Disease causing variants Outputs: Value reported under each prediction PANTHER: Between 0 and 1. (If >0.5 mutation is predicted Disease) PhD-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) SIFT: Positive Value (If >0.05 mutation is predicted Neutral) SNAP: Output normailzed between 0 and 1 (If >0.5 mutation is predicted Disease) Meta-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) RI: Reliability Index between 0 an 10 F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site