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 T59M Neutral Neutral Disease Disease Neutral 3 F[T]=82% F[M]=0% Nali=50 0.467 0.304 0.010 0.685 0.363 D75V Disease Disease Disease Disease Disease 4 F[D]=84% F[V]=0% Nali=106 0.690 0.597 0.020 0.705 0.680 S76C Disease Neutral Disease Disease Disease 2 F[S]=99% F[C]=0% Nali=106 0.881 0.383 0.050 0.600 0.611 R80L Disease Disease Disease Disease Disease 3 F[R]=80% F[L]=0% Nali=106 0.567 0.503 0.050 0.685 0.640 E89Q Neutral Neutral Disease Disease Neutral 3 F[E]=77% F[Q]=1% Nali=113 0.311 0.346 0.010 0.565 0.347 D91H Disease Neutral Disease Disease Disease 2 F[D]=69% F[H]=0% Nali=115 0.760 0.367 0.000 0.640 0.608 D91Y Disease Neutral Disease Disease Disease 2 F[D]=69% F[Y]=0% Nali=115 0.872 0.482 0.040 0.555 0.619 E93Q Neutral Neutral Disease Disease Neutral 2 F[E]=94% F[Q]=3% Nali=119 0.341 0.420 0.000 0.625 0.385 E100G Disease Neutral Disease Disease Disease 2 F[E]=91% F[G]=0% Nali=123 0.627 0.431 0.000 0.730 0.621 R101W Disease Neutral Disease Disease Disease 3 F[R]=66% F[W]=0% Nali=123 0.856 0.490 0.000 0.690 0.656 V115F Disease Disease Disease Disease Disease 4 F[V]=98% F[F]=0% Nali=131 0.821 0.821 0.000 0.585 0.706 P134A Disease Disease Disease Disease Disease 3 F[P]=100% F[A]=0% Nali=131 0.835 0.623 0.000 0.655 0.651 G137D Neutral Disease Disease Disease Disease 1 F[G]=89% F[D]=1% Nali=131 0.274 0.741 0.010 0.505 0.556 D146H Disease Disease Disease Disease Disease 4 F[D]=92% F[H]=0% Nali=131 0.792 0.744 0.010 0.675 0.702 D146Y Disease Disease Disease Disease Disease 6 F[D]=92% F[Y]=0% Nali=131 0.892 0.871 0.000 0.730 0.810 K151N Disease Disease Disease Disease Disease 5 F[K]=95% F[N]=0% Nali=131 0.649 0.873 0.010 0.650 0.740 W158R Disease Disease Disease Disease Disease 6 F[W]=100% F[R]=0% Nali=130 0.836 0.920 0.010 0.745 0.823 I160M Disease Disease Disease Neutral Disease 3 F[I]=97% F[M]=0% Nali=132 0.682 0.800 0.010 0.255 0.667 K199E Neutral Neutral Neutral Neutral Neutral 3 F[K]=61% F[E]=0% Nali=120 0.256 0.311 0.370 0.420 0.350 K199N Neutral Neutral Neutral Neutral Neutral 3 F[K]=61% F[N]=0% Nali=120 0.343 0.291 0.220 0.380 0.351 F305Y Neutral Disease Disease Neutral Disease 3 F[F]=96% F[Y]=1% Nali=128 0.477 0.824 0.030 0.495 0.652 R315Q Disease Disease Disease Disease Disease 6 F[R]=96% F[Q]=0% Nali=129 0.645 0.847 0.000 0.750 0.798 R330C Disease Disease Disease Disease Disease 6 F[R]=96% F[C]=0% Nali=127 0.915 0.739 0.000 0.730 0.795 L333P Disease Disease Disease Neutral Disease 4 F[L]=85% F[P]=1% Nali=127 0.882 0.816 0.050 0.455 0.684 E357K Disease Disease Disease Disease Disease 5 F[E]=96% F[K]=0% Nali=125 0.750 0.777 0.000 0.710 0.733 I358M Disease Disease Disease Disease Disease 3 F[I]=92% F[M]=0% Nali=124 0.678 0.571 0.000 0.610 0.643 A365T Neutral Disease Disease Neutral Neutral 1 F[A]=91% F[T]=2% Nali=125 0.306 0.669 0.020 0.425 0.468 Q369K Neutral Disease Disease Disease Disease 3 F[Q]=94% F[K]=1% Nali=125 0.378 0.888 0.030 0.520 0.668 L370S Disease Disease Disease Disease Disease 5 F[L]=97% F[S]=0% Nali=125 0.873 0.878 0.000 0.585 0.763 T387I Disease Disease Disease Disease Disease 4 F[T]=96% F[I]=0% Nali=123 0.504 0.834 0.000 0.605 0.710 S388F Disease Disease Disease Disease Disease 5 F[S]=93% F[F]=0% Nali=123 0.868 0.762 0.000 0.540 0.729 A390T Disease Disease Disease Disease Disease 3 F[A]=98% F[T]=0% Nali=123 0.558 0.758 0.000 0.525 0.630 A390V Disease Disease Neutral Neutral Disease 2 F[A]=98% F[V]=0% Nali=123 0.682 0.761 0.060 0.365 0.586 K397T Disease Disease Disease Disease Disease 5 F[K]=97% F[T]=0% Nali=124 0.682 0.782 0.000 0.775 0.766 I398M Disease Disease Disease Disease Disease 0 F[I]=67% F[M]=1% Nali=124 0.647 0.638 0.030 0.505 0.508 L404F Disease Disease Neutral Neutral Disease 0 F[L]=99% F[F]=0% Nali=126 0.716 0.603 0.060 0.385 0.501 I408T Disease Disease Disease Disease Disease 3 F[I]=88% F[T]=0% Nali=125 0.686 0.500 0.000 0.570 0.632 R411G Disease Disease Disease Disease Disease 4 F[R]=98% F[G]=0% Nali=125 0.687 0.630 0.010 0.690 0.688 R411Q Disease Disease Disease Disease Disease 5 F[R]=98% F[Q]=0% Nali=125 0.572 0.748 0.000 0.725 0.738 L419P Disease Disease Disease Disease Disease 5 F[L]=81% F[P]=0% Nali=125 0.891 0.819 0.030 0.570 0.743 W461G Neutral Disease Disease Disease Disease 5 F[W]=98% F[G]=0% Nali=120 0.350 0.799 0.000 0.705 0.728 T554I Neutral Neutral Neutral Neutral Neutral 4 F[T]=65% F[I]=0% Nali=45 0.472 0.262 0.280 0.430 0.301 R586C Disease Disease Neutral Disease Disease 3 F[R]=78% F[C]=0% Nali=44 0.789 0.715 0.170 0.615 0.661 R586H Neutral Disease Neutral Neutral Disease 0 F[R]=78% F[H]=0% Nali=44 0.288 0.707 0.520 0.320 0.505 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