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 W1258R NA Neutral Neutral Disease Neutral 5 F[W]=11% F[R]=9% Nali=255 - 0.272 0.090 0.655 0.262 R1276L NA Disease Neutral Disease Disease 5 F[R]=99% F[L]=0% Nali=288 - 0.887 0.670 0.690 0.760 R1276Q NA Disease Neutral Disease Disease 5 F[R]=99% F[Q]=0% Nali=288 - 0.821 0.320 0.775 0.763 N1278I NA Disease Disease Disease Disease 6 F[N]=88% F[I]=0% Nali=287 - 0.879 0.030 0.715 0.787 N1278K NA Disease Neutral Disease Disease 6 F[N]=88% F[K]=0% Nali=287 - 0.853 0.220 0.725 0.775 S1282R NA Disease Disease Disease Disease 6 F[S]=38% F[R]=0% Nali=287 - 0.894 0.020 0.720 0.809 I1284R NA Disease Neutral Disease Disease 5 F[I]=12% F[R]=0% Nali=286 - 0.700 0.110 0.580 0.739 K1290N NA Disease Disease Disease Disease 4 F[K]=67% F[N]=1% Nali=287 - 0.871 0.010 0.630 0.711 R1325K NA Neutral Neutral Neutral Neutral 6 F[R]=35% F[K]=62% Nali=277 - 0.054 0.670 0.315 0.181 R1325M NA Neutral Disease Disease Neutral 4 F[R]=35% F[M]=0% Nali=277 - 0.372 0.030 0.655 0.320 R1325T NA Neutral Neutral Neutral Neutral 5 F[R]=35% F[T]=0% Nali=277 - 0.445 0.560 0.425 0.266 L1339R NA Disease Disease Disease Disease 6 F[L]=89% F[R]=0% Nali=283 - 0.858 0.010 0.765 0.792 Q1370P NA Disease Neutral Disease Disease 4 F[Q]=30% F[P]=0% Nali=191 - 0.732 0.170 0.550 0.707 L1411R NA Disease Neutral Disease Disease 6 F[L]=99% F[R]=0% Nali=287 - 0.960 0.070 0.685 0.821 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