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 G14C Disease Disease Disease Disease Disease 1 F[G]=37% F[C]=0% Nali=89 0.861 0.518 0.000 0.515 0.554 S19F Disease Neutral Neutral Neutral Neutral 0 F[S]=33% F[F]=7% Nali=90 0.884 0.399 0.090 0.380 0.483 G24V Disease Disease Disease Disease Disease 4 F[G]=64% F[V]=0% Nali=94 0.891 0.562 0.000 0.670 0.676 G24W Disease Disease Disease Disease Disease 4 F[G]=64% F[W]=0% Nali=94 0.985 0.662 0.000 0.720 0.723 P31T Disease Neutral Neutral Disease Neutral 6 F[P]=39% F[T]=0% Nali=93 0.553 0.151 0.100 0.515 0.213 Y48C Disease Disease Disease Disease Disease 5 F[Y]=70% F[C]=1% Nali=98 0.964 0.829 0.000 0.750 0.760 R72H Neutral Neutral Neutral Neutral Neutral 8 F[R]=22% F[H]=3% Nali=93 0.271 0.085 0.170 0.425 0.115 M77I Neutral Neutral Neutral Neutral Neutral 7 F[M]=45% F[I]=23% Nali=101 0.298 0.121 0.500 0.405 0.156 R85C Disease Disease Disease Disease Disease 4 F[R]=71% F[C]=0% Nali=101 0.974 0.537 0.000 0.665 0.689 R85S Disease Neutral Disease Disease Disease 2 F[R]=71% F[S]=0% Nali=101 0.865 0.489 0.020 0.615 0.616 S100F Disease Neutral Neutral Neutral Neutral 7 F[S]=28% F[F]=9% Nali=103 0.523 0.092 0.720 0.460 0.136 Q111H Disease Neutral Disease Disease Disease 2 F[Q]=44% F[H]=0% Nali=104 0.651 0.382 0.050 0.660 0.602 R119W Disease Neutral Disease Disease Neutral 1 F[R]=18% F[W]=0% Nali=103 0.807 0.232 0.020 0.565 0.437 S131F Disease Neutral Disease Disease Neutral 3 F[S]=29% F[F]=0% Nali=103 0.791 0.209 0.020 0.600 0.360 V135I Neutral Neutral Neutral Neutral Neutral 8 F[V]=42% F[I]=11% Nali=102 0.385 0.063 0.370 0.245 0.096 S140L Neutral Neutral Neutral Neutral Neutral 8 F[S]=18% F[L]=19% Nali=102 0.276 0.088 0.320 0.305 0.104 R146H Disease Neutral Neutral Disease Neutral 1 F[R]=35% F[H]=0% Nali=102 0.680 0.244 0.100 0.565 0.432 P161L Neutral Neutral Neutral Neutral Neutral 7 F[P]=26% F[L]=5% Nali=101 0.299 0.144 0.370 0.370 0.166 R179C Disease Disease Disease Disease Disease 5 F[R]=39% F[C]=0% Nali=103 0.743 0.599 0.000 0.720 0.731 L226R Disease Disease Disease Disease Disease 6 F[L]=60% F[R]=0% Nali=100 0.935 0.790 0.000 0.735 0.791 N235K Neutral Neutral Neutral Neutral Neutral 7 F[N]=8% F[K]=0% Nali=102 0.271 0.141 0.070 0.405 0.160 L236V Neutral Neutral Neutral Neutral Neutral 8 F[L]=29% F[V]=30% Nali=101 0.243 0.055 0.750 0.170 0.106 P243R Disease Disease Disease Disease Disease 3 F[P]=57% F[R]=0% Nali=101 0.904 0.621 0.000 0.680 0.674 A247T Neutral Neutral Disease Neutral Neutral 6 F[A]=15% F[T]=0% Nali=97 0.464 0.156 0.030 0.460 0.191 I251M Neutral Neutral Neutral Neutral Neutral 5 F[I]=35% F[M]=7% Nali=93 0.417 0.186 0.300 0.285 0.227 F260L Neutral Neutral Neutral Neutral Neutral 5 F[F]=61% F[L]=31% Nali=92 0.212 0.243 0.590 0.415 0.262 L265I Disease Neutral Disease Neutral Neutral 3 F[L]=66% F[I]=2% Nali=88 0.649 0.246 0.010 0.490 0.355 S266L Neutral Neutral Neutral Neutral Neutral 6 F[S]=37% F[L]=9% Nali=81 0.219 0.184 0.430 0.255 0.196 D274N Neutral Neutral Neutral Neutral Neutral 8 F[D]=42% F[N]=2% Nali=49 0.375 0.066 0.150 0.450 0.092 M310I Disease Neutral Neutral Neutral Neutral 6 F[M]=57% F[I]=0% Nali=29 0.507 0.411 0.570 0.285 0.208 E311K Neutral Neutral Neutral Disease Neutral 6 F[E]=57% F[K]=7% Nali=29 0.267 0.462 0.170 0.525 0.185 S319L Disease Neutral Disease Disease Neutral 8 F[S]=50% F[L]=7% Nali=29 0.521 0.215 0.040 0.540 0.118 R320L Neutral Neutral Neutral Neutral Neutral 5 F[R]=52% F[L]=0% Nali=26 0.224 0.461 0.220 0.480 0.236 R320W Disease Neutral Disease Disease Neutral 5 F[R]=52% F[W]=0% Nali=26 0.810 0.381 0.030 0.650 0.237 E343Q Neutral Neutral Neutral Neutral Neutral 9 F[E]=41% F[Q]=7% Nali=28 0.450 0.045 0.170 0.500 0.054 Q377K Neutral Neutral Neutral Neutral Neutral 8 F[Q]=42% F[K]=0% Nali=18 0.455 0.221 0.310 0.350 0.125 D386V Disease Neutral Disease Disease Neutral 5 F[D]=100% F[V]=0% Nali=17 0.682 0.297 0.020 0.670 0.271 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