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: FCGR2B.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile P56T NA Disease Disease Disease Disease 3 F[P]=99% F[T]=1% Nali=165 - 0.663 0.000 0.700 0.674 C71Y NA Disease Disease Disease Disease 6 F[C]=100% F[Y]=0% Nali=167 - 0.798 0.000 0.845 0.792 N87I Disease Disease Disease Disease Disease 4 F[N]=55% F[I]=0% Nali=165 0.980 0.644 0.000 0.715 0.705 F101Y Neutral Neutral Neutral Disease Neutral 3 F[F]=22% F[Y]=1% Nali=147 0.485 0.238 0.080 0.570 0.366 S108R Disease Disease Disease Disease Disease 3 F[S]=72% F[R]=3% Nali=174 0.916 0.578 0.000 0.715 0.658 G109E Disease Disease Disease Disease Disease 7 F[G]=97% F[E]=0% Nali=174 0.973 0.805 0.000 0.810 0.857 G109R Disease Disease Disease Disease Disease 7 F[G]=97% F[R]=3% Nali=174 0.978 0.724 0.020 0.805 0.827 G109W Disease Disease Disease Disease Disease 8 F[G]=97% F[W]=0% Nali=174 0.992 0.797 0.000 0.800 0.892 Y111S Disease Disease Disease Disease Disease 7 F[Y]=93% F[S]=0% Nali=178 0.960 0.743 0.000 0.780 0.854 C113S Disease Disease Disease Disease Disease 4 F[C]=94% F[S]=1% Nali=178 0.949 0.660 0.000 0.805 0.713 T118I Disease Neutral Disease Disease Neutral 1 F[T]=18% F[I]=0% Nali=177 0.737 0.244 0.050 0.600 0.445 S121R Disease Disease Disease Disease Disease 4 F[S]=99% F[R]=0% Nali=178 0.993 0.670 0.000 0.755 0.723 V128E Disease Disease Disease Disease Disease 7 F[V]=66% F[E]=0% Nali=180 0.940 0.808 0.000 0.800 0.853 V128M Disease Neutral Disease Disease Disease 2 F[V]=66% F[M]=1% Nali=180 0.882 0.466 0.000 0.700 0.616 W132G Disease Disease Disease Disease Disease 7 F[W]=71% F[G]=0% Nali=177 0.973 0.697 0.010 0.820 0.865 L135F Disease Disease Disease Disease Disease 3 F[L]=99% F[F]=0% Nali=177 0.920 0.571 0.020 0.560 0.672 Q136H Disease Disease Disease Disease Disease 6 F[Q]=94% F[H]=0% Nali=177 0.982 0.730 0.020 0.690 0.811 Q136L Disease Disease Disease Disease Disease 6 F[Q]=94% F[L]=0% Nali=177 0.974 0.764 0.000 0.735 0.809 Q136P Disease Disease Disease Disease Disease 6 F[Q]=94% F[P]=0% Nali=177 0.977 0.829 0.000 0.725 0.810 T137N Disease Neutral Disease Disease Disease 3 F[T]=26% F[N]=0% Nali=177 0.767 0.383 0.020 0.575 0.629 F142L Disease Disease Neutral Neutral Disease 0 F[F]=54% F[L]=2% Nali=177 0.560 0.573 0.200 0.400 0.512 F142S Disease Disease Disease Disease Disease 5 F[F]=54% F[S]=0% Nali=177 0.823 0.743 0.010 0.710 0.757 C152G Disease Disease Disease Disease Disease 9 F[C]=99% F[G]=0% Nali=180 0.994 0.908 0.000 0.825 0.935 C152Y Disease Disease Disease Disease Disease 9 F[C]=99% F[Y]=0% Nali=180 0.999 0.935 0.000 0.845 0.958 H153Q Disease Neutral Neutral Neutral Neutral 0 F[H]=59% F[Q]=13% Nali=180 0.675 0.357 0.100 0.485 0.497 W155G Disease Disease Neutral Disease Disease 6 F[W]=60% F[G]=0% Nali=174 0.973 0.768 0.080 0.720 0.812 N168K Disease Neutral Disease Disease Disease 2 F[N]=48% F[K]=2% Nali=175 0.547 0.423 0.000 0.730 0.579 K172N Neutral Neutral Neutral Disease Neutral 5 F[K]=22% F[N]=2% Nali=175 0.273 0.184 0.340 0.510 0.243 C196R Disease Disease Disease Disease Disease 9 F[C]=100% F[R]=0% Nali=173 0.998 0.937 0.000 0.860 0.931 S207C Disease Disease Disease Disease Disease 6 F[S]=83% F[C]=0% Nali=138 0.892 0.753 0.000 0.735 0.790 S207P Disease Disease Disease Disease Disease 6 F[S]=83% F[P]=1% Nali=138 0.851 0.854 0.000 0.740 0.780 I212T Disease Disease Disease Disease Disease 3 F[I]=80% F[T]=0% Nali=131 0.708 0.605 0.000 0.615 0.652 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