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: IL23R_HUMAN.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile W35C NA Disease Disease Disease Disease 3 F[W]=43% F[C]=0% Nali=27 - 0.599 0.000 0.760 0.670 S49Y NA Disease Disease Disease Disease 3 F[S]=47% F[Y]=0% Nali=35 - 0.502 0.000 0.645 0.646 C52F NA Disease Disease Disease Disease 5 F[C]=100% F[F]=0% Nali=35 - 0.864 0.000 0.760 0.741 C59R NA Disease Disease Disease Disease 0 F[C]=67% F[R]=6% Nali=35 - 0.764 0.000 0.755 0.507 L64P NA Disease Disease Disease Disease 3 F[L]=53% F[P]=0% Nali=33 - 0.701 0.000 0.615 0.673 P220S Neutral Disease NA Disease Disease 3 F[P]=93% F[S]=0% Nali=43 0.360 0.685 - 0.540 0.640 P220T Neutral Disease NA Disease Disease 2 F[P]=93% F[T]=0% Nali=43 0.421 0.632 - 0.530 0.587 W242C Disease Disease NA Disease Disease 4 F[W]=88% F[C]=0% Nali=39 0.727 0.760 - 0.745 0.722 C253R Disease Disease NA Disease Disease 4 F[C]=49% F[R]=0% Nali=42 0.539 0.516 - 0.740 0.711 L284W Disease Disease NA Disease Disease 4 F[L]=100% F[W]=0% Nali=44 0.808 0.739 - 0.650 0.688 C296R Disease Disease Neutral Disease Disease 4 F[C]=73% F[R]=0% Nali=44 0.673 0.881 0.200 0.620 0.701 W307G Disease Disease Neutral Disease Disease 4 F[W]=100% F[G]=0% Nali=43 0.637 0.770 0.560 0.645 0.682 W395R Disease Disease Neutral Disease Disease 3 F[W]=100% F[R]=0% Nali=16 0.663 0.818 0.100 0.565 0.662 P401S Neutral Disease Neutral Neutral Disease 0 F[P]=100% F[S]=0% Nali=16 0.495 0.656 0.380 0.430 0.522 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