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: fileseq.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile S46I NA Disease Disease Disease Disease 4 F[S]=56% F[I]=0% Nali=975 - 0.825 0.000 0.600 0.699 S46N NA Disease Disease Disease Disease 3 F[S]=56% F[N]=0% Nali=975 - 0.730 0.000 0.590 0.664 D48N NA Disease Disease Disease Disease 5 F[D]=100% F[N]=0% Nali=975 - 0.870 0.000 0.720 0.757 A51T NA Disease Disease Disease Disease 3 F[A]=78% F[T]=0% Nali=975 - 0.818 0.000 0.540 0.670 I54S NA Disease Disease Disease Disease 4 F[I]=75% F[S]=0% Nali=975 - 0.927 0.000 0.555 0.713 I54T NA Disease Disease Neutral Disease 4 F[I]=75% F[T]=0% Nali=975 - 0.860 0.010 0.480 0.710 I66T NA Disease Disease Disease Disease 4 F[I]=76% F[T]=0% Nali=977 - 0.872 0.000 0.595 0.707 S90C Disease Disease Disease Disease Disease 5 F[S]=98% F[C]=1% Nali=970 0.901 0.738 0.000 0.700 0.766 R107W Disease Disease Disease Disease Disease 8 F[R]=99% F[W]=0% Nali=973 0.987 0.885 0.000 0.800 0.896 G108R Disease Disease Disease Disease Disease 9 F[G]=100% F[R]=0% Nali=973 0.999 0.861 0.000 0.825 0.943 A110S Disease Disease Disease Disease Disease 6 F[A]=98% F[S]=0% Nali=973 0.956 0.802 0.000 0.660 0.820 L114F Disease Disease Disease Disease Disease 6 F[L]=19% F[F]=0% Nali=974 0.921 0.703 0.000 0.610 0.811 G141A Disease Disease Disease Disease Disease 6 F[G]=74% F[A]=2% Nali=962 0.986 0.706 0.010 0.555 0.810 L166P Disease Disease Disease Disease Disease 7 F[L]=22% F[P]=0% Nali=974 0.979 0.824 0.000 0.555 0.856 N204D Disease Neutral Disease Disease Disease 2 F[N]=29% F[D]=4% Nali=844 0.708 0.284 0.020 0.590 0.609 T217I Disease Neutral Disease Disease Disease 3 F[T]=50% F[I]=2% Nali=823 0.884 0.332 0.020 0.535 0.656 L239Q Disease Disease Disease Disease Disease 5 F[L]=58% F[Q]=0% Nali=802 0.853 0.741 0.000 0.605 0.753 R295W Disease Disease Disease Disease Disease 8 F[R]=99% F[W]=0% Nali=938 0.990 0.907 0.000 0.785 0.906 P296S Disease Neutral Disease Disease Disease 4 F[P]=33% F[S]=4% Nali=934 0.920 0.400 0.010 0.620 0.680 Y310C Disease Disease Disease Disease Disease 7 F[Y]=84% F[C]=0% Nali=927 0.983 0.860 0.000 0.690 0.845 N314K Disease Neutral Disease Disease Disease 3 F[N]=16% F[K]=2% Nali=929 0.894 0.419 0.040 0.515 0.659 N335S Disease Disease Disease Disease Disease 8 F[N]=100% F[S]=0% Nali=934 0.995 0.824 0.000 0.770 0.887 L345Q Disease Disease Disease Disease Disease 7 F[L]=30% F[Q]=0% Nali=901 0.951 0.798 0.000 0.565 0.838 E348V Disease Disease Disease Disease Disease 7 F[E]=47% F[V]=0% Nali=888 0.946 0.603 0.000 0.730 0.832 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