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 P34S Disease Neutral Disease Disease Disease 3 F[P]=95% F[S]=1% Nali=702 0.788 0.406 0.010 0.765 0.646 L142S Neutral Disease Disease Disease Disease 4 F[L]=18% F[S]=0% Nali=945 0.499 0.711 0.000 0.555 0.692 L254P Disease Disease Neutral Neutral Disease 0 F[L]=13% F[P]=0% Nali=935 0.719 0.729 0.250 0.380 0.501 L271P Disease Disease Disease Disease Disease 6 F[L]=21% F[P]=0% Nali=979 0.800 0.787 0.000 0.625 0.783 L314P Disease Disease Disease Disease Disease 6 F[L]=79% F[P]=0% Nali=992 0.894 0.832 0.000 0.735 0.787 P412L Disease Disease Disease Disease Disease 5 F[P]=96% F[L]=0% Nali=979 0.867 0.835 0.000 0.635 0.773 K429E Disease Disease Disease Disease Disease 2 F[K]=65% F[E]=1% Nali=980 0.658 0.735 0.050 0.585 0.612 R441C Disease Disease Disease Disease Disease 7 F[R]=99% F[C]=0% Nali=966 0.890 0.857 0.000 0.815 0.847 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