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 V28M Neutral Neutral Disease Disease Neutral 5 F[V]=68% F[M]=0% Nali=18 0.445 0.422 0.000 0.655 0.236 V31L Neutral Disease Disease Neutral Neutral 3 F[V]=79% F[L]=5% Nali=18 0.265 0.520 0.020 0.460 0.353 G32E Neutral Disease Disease Disease Disease 4 F[G]=100% F[E]=0% Nali=18 0.219 0.892 0.000 0.675 0.723 R33Q Neutral Disease Neutral Neutral Neutral 4 F[R]=84% F[Q]=16% Nali=18 0.142 0.612 0.740 0.205 0.315 R33W Disease Disease Disease Disease Disease 4 F[R]=84% F[W]=0% Nali=18 0.803 0.866 0.000 0.605 0.716 L34V Neutral Disease Disease Neutral Disease 1 F[L]=100% F[V]=0% Nali=18 0.295 0.754 0.020 0.485 0.562 H35L Neutral Disease Neutral Neutral Neutral 1 F[H]=68% F[L]=0% Nali=18 0.201 0.714 0.070 0.390 0.464 H35R Neutral Neutral Neutral Neutral Neutral 7 F[H]=68% F[R]=32% Nali=18 0.134 0.186 1.000 0.225 0.145 H35Y Disease Disease Neutral Neutral Neutral 1 F[H]=68% F[Y]=0% Nali=18 0.525 0.716 0.120 0.355 0.462 I36T Neutral Disease Disease Disease Disease 3 F[I]=79% F[T]=0% Nali=18 0.274 0.775 0.030 0.555 0.636 F37I Neutral Disease Disease Disease Disease 4 F[F]=100% F[I]=0% Nali=18 0.361 0.807 0.010 0.740 0.702 S38R Neutral Disease Disease Disease Disease 4 F[S]=100% F[R]=0% Nali=18 0.413 0.761 0.010 0.755 0.705 A40T Neutral Neutral Neutral Neutral Neutral 5 F[A]=68% F[T]=16% Nali=18 0.187 0.244 0.560 0.205 0.265 A40V Neutral Neutral Disease Neutral Neutral 6 F[A]=68% F[V]=5% Nali=18 0.152 0.419 0.040 0.445 0.198 H41R Neutral Disease Disease Disease Disease 2 F[H]=89% F[R]=0% Nali=18 0.205 0.694 0.020 0.575 0.624 G42E Disease Disease Disease Disease Disease 3 F[G]=100% F[E]=0% Nali=18 0.751 0.799 0.030 0.545 0.658 G42R Disease Disease Disease Disease Disease 4 F[G]=100% F[R]=0% Nali=18 0.817 0.824 0.000 0.585 0.698 P43L Neutral Disease Disease Disease Disease 1 F[P]=100% F[L]=0% Nali=18 0.274 0.697 0.000 0.510 0.552 P43S Neutral Disease Disease Neutral Neutral 0 F[P]=100% F[S]=0% Nali=18 0.334 0.565 0.010 0.355 0.495 E44A Neutral Disease Disease Disease Disease 2 F[E]=100% F[A]=0% Nali=18 0.222 0.596 0.010 0.615 0.624 K45E Neutral Disease Disease Neutral Neutral 1 F[K]=84% F[E]=0% Nali=18 0.241 0.622 0.030 0.440 0.452 D46G Neutral Disease Disease Disease Disease 3 F[D]=100% F[G]=0% Nali=17 0.483 0.716 0.010 0.545 0.629 P48S Disease Disease Neutral Neutral Neutral 1 F[P]=94% F[S]=0% Nali=17 0.616 0.606 0.080 0.495 0.464 L49P Disease Disease Neutral Disease Disease 4 F[L]=100% F[P]=0% Nali=17 0.618 0.869 0.070 0.520 0.679 L49V Neutral Disease Disease Neutral Neutral 0 F[L]=100% F[V]=0% Nali=17 0.191 0.665 0.020 0.420 0.492 H50L Neutral Disease Neutral Neutral Neutral 1 F[H]=56% F[L]=0% Nali=17 0.325 0.612 0.100 0.430 0.472 H50Y Neutral Neutral Neutral Neutral Neutral 7 F[H]=56% F[Y]=39% Nali=17 0.139 0.194 1.000 0.170 0.159 L51V Neutral Disease Disease Neutral Neutral 0 F[L]=94% F[V]=0% Nali=17 0.404 0.592 0.010 0.480 0.496 G52R Neutral Disease Disease Disease Disease 5 F[G]=100% F[R]=0% Nali=17 0.457 0.807 0.000 0.810 0.752 K53N Neutral Disease Disease Disease Disease 3 F[K]=94% F[N]=0% Nali=17 0.382 0.718 0.010 0.570 0.643 K53R Neutral Disease Disease Disease Disease 1 F[K]=94% F[R]=0% Nali=17 0.356 0.588 0.010 0.515 0.537 N54S Neutral Disease Neutral Neutral Neutral 0 F[N]=100% F[S]=0% Nali=17 0.354 0.711 0.100 0.480 0.496 V55M Disease Neutral Disease Disease Neutral 5 F[V]=89% F[M]=11% Nali=17 0.585 0.461 0.010 0.570 0.250 V56I Neutral Disease Disease Disease Disease 3 F[V]=100% F[I]=0% Nali=17 0.446 0.531 0.010 0.635 0.629 G57V Neutral Disease Disease Disease Disease 4 F[G]=100% F[V]=0% Nali=17 0.375 0.867 0.000 0.620 0.704 R58G Disease Disease Disease Disease Disease 4 F[R]=100% F[G]=0% Nali=17 0.507 0.727 0.010 0.790 0.710 R58P Disease Disease Disease Disease Disease 6 F[R]=100% F[P]=0% Nali=17 0.591 0.868 0.000 0.810 0.785 R58Q Neutral Disease Disease Disease Disease 5 F[R]=100% F[Q]=0% Nali=17 0.356 0.811 0.010 0.820 0.765 M59L Neutral Disease Neutral Disease Disease 2 F[M]=78% F[L]=0% Nali=17 0.174 0.693 0.360 0.575 0.587 D61V Neutral Disease Disease Disease Disease 3 F[D]=89% F[V]=0% Nali=17 0.292 0.818 0.000 0.600 0.666 C62R Neutral Disease Disease Disease Disease 5 F[C]=100% F[R]=0% Nali=17 0.229 0.906 0.000 0.715 0.736 S63F Neutral Disease Disease Disease Disease 3 F[S]=94% F[F]=0% Nali=17 0.281 0.705 0.000 0.660 0.625 A65S Neutral Neutral Disease Neutral Neutral 3 F[A]=83% F[S]=0% Nali=17 0.334 0.483 0.010 0.455 0.353 A65V Neutral Neutral Disease Neutral Neutral 4 F[A]=83% F[V]=0% Nali=17 0.459 0.465 0.040 0.455 0.281 L66P Disease Disease Neutral Neutral Disease 1 F[L]=100% F[P]=0% Nali=17 0.723 0.756 0.080 0.400 0.554 P67L Neutral Disease Disease Disease Disease 3 F[P]=100% F[L]=0% Nali=17 0.368 0.551 0.010 0.645 0.638 P67S Neutral Disease Disease Disease Disease 3 F[P]=100% F[S]=0% Nali=17 0.377 0.515 0.010 0.645 0.629 P67T Neutral Disease Neutral Neutral Neutral 0 F[P]=100% F[T]=0% Nali=17 0.220 0.531 0.090 0.380 0.476 F68L Neutral Disease Disease Disease Disease 2 F[F]=100% F[L]=0% Nali=17 0.232 0.532 0.010 0.555 0.595 F68V Neutral Disease Disease Disease Disease 1 F[F]=100% F[V]=0% Nali=17 0.375 0.680 0.020 0.525 0.559 P69S Neutral Neutral Neutral Neutral Neutral 8 F[P]=83% F[S]=17% Nali=17 0.154 0.176 0.480 0.295 0.081 S70F Disease Disease Disease Disease Disease 3 F[S]=100% F[F]=0% Nali=17 0.704 0.609 0.000 0.700 0.666 S70T Disease Neutral Disease Disease Neutral 3 F[S]=100% F[T]=0% Nali=17 0.578 0.460 0.040 0.550 0.339 I71T Neutral Disease Neutral Disease Disease 3 F[I]=100% F[T]=0% Nali=18 0.320 0.754 0.090 0.550 0.640 I71V Neutral Neutral Disease Disease Neutral 5 F[I]=100% F[V]=0% Nali=18 0.246 0.391 0.030 0.610 0.255 S72C Disease Neutral Disease Disease Neutral 0 F[S]=100% F[C]=0% Nali=18 0.797 0.473 0.010 0.760 0.495 S72P Disease Disease Neutral Disease Disease 4 F[S]=100% F[P]=0% Nali=18 0.629 0.694 0.070 0.775 0.683 S72Y Disease Disease Disease Disease Disease 3 F[S]=100% F[Y]=0% Nali=18 0.662 0.652 0.030 0.785 0.667 K73R Neutral Disease Neutral Neutral Neutral 0 F[K]=100% F[R]=0% Nali=18 0.255 0.550 0.110 0.445 0.489 A76S Neutral Disease Disease Neutral Neutral 0 F[A]=100% F[S]=0% Nali=18 0.231 0.590 0.010 0.455 0.489 E77D Neutral Neutral Neutral Neutral Neutral 7 F[E]=53% F[D]=0% Nali=18 0.296 0.395 0.120 0.490 0.173 E77K Neutral Disease Neutral Disease Disease 2 F[E]=53% F[K]=0% Nali=18 0.203 0.528 0.190 0.590 0.601 I78T Neutral Disease Disease Disease Disease 3 F[I]=100% F[T]=0% Nali=18 0.263 0.664 0.030 0.565 0.640 E79K Neutral Disease Disease Disease Disease 4 F[E]=100% F[K]=0% Nali=18 0.362 0.651 0.020 0.775 0.675 E79Q Neutral Disease Disease Disease Disease 3 F[E]=100% F[Q]=0% Nali=18 0.435 0.531 0.020 0.620 0.627 I80V Neutral Neutral Disease Neutral Neutral 6 F[I]=89% F[V]=5% Nali=18 0.331 0.265 0.010 0.485 0.205 A82G Neutral Neutral Disease Disease Neutral 3 F[A]=95% F[G]=5% Nali=18 0.274 0.498 0.020 0.650 0.355 W83S Neutral Disease Disease Disease Disease 4 F[W]=95% F[S]=0% Nali=18 0.246 0.856 0.030 0.640 0.701 D84E Neutral Disease Disease Disease Disease 2 F[D]=68% F[E]=0% Nali=18 0.166 0.595 0.040 0.560 0.576 K85E Neutral Disease Disease Disease Disease 4 F[K]=95% F[E]=0% Nali=18 0.424 0.753 0.010 0.740 0.689 P87H Neutral Disease Disease Disease Disease 3 F[P]=95% F[H]=0% Nali=18 0.363 0.725 0.000 0.770 0.666 P87L Neutral Disease Disease Disease Disease 4 F[P]=95% F[L]=0% Nali=18 0.236 0.771 0.000 0.700 0.686 P87S Neutral Disease Disease Disease Disease 3 F[P]=95% F[S]=0% Nali=18 0.206 0.653 0.000 0.725 0.628 I88V Neutral Neutral Neutral Neutral Neutral 9 F[I]=74% F[V]=26% Nali=18 0.194 0.118 0.370 0.415 0.068 L89I Neutral Disease Disease Disease Disease 3 F[L]=100% F[I]=0% Nali=18 0.397 0.606 0.000 0.605 0.643 R90G Disease Disease Disease Disease Disease 2 F[R]=68% F[G]=0% Nali=18 0.514 0.574 0.000 0.715 0.620 R90Q Neutral Neutral Neutral Disease Neutral 9 F[R]=68% F[Q]=32% Nali=18 0.225 0.178 0.370 0.605 0.072 D91G Disease Disease Disease Disease Disease 5 F[D]=100% F[G]=0% Nali=18 0.503 0.812 0.000 0.800 0.746 D91Y Disease Disease Disease Disease Disease 6 F[D]=100% F[Y]=0% Nali=18 0.677 0.896 0.000 0.830 0.815 C92S Neutral Disease Disease Disease Disease 0 F[C]=95% F[S]=5% Nali=18 0.387 0.768 0.000 0.735 0.521 S94R Neutral Disease Disease Disease Disease 4 F[S]=100% F[R]=0% Nali=18 0.369 0.708 0.000 0.790 0.711 G97D Neutral Disease Disease Disease Disease 6 F[G]=94% F[D]=0% Nali=17 0.361 0.840 0.000 0.855 0.804 P103L Neutral Disease Disease Disease Disease 3 F[P]=100% F[L]=0% Nali=16 0.356 0.539 0.000 0.670 0.629 P104S Neutral Neutral Disease Disease Neutral 6 F[P]=94% F[S]=6% Nali=16 0.199 0.422 0.000 0.675 0.211 K105E Neutral Disease Disease Disease Disease 2 F[K]=76% F[E]=0% Nali=16 0.165 0.618 0.000 0.695 0.608 V106F Disease Disease Disease Disease Disease 3 F[V]=94% F[F]=0% Nali=16 0.552 0.604 0.000 0.710 0.673 V106I Neutral Neutral Disease Disease Neutral 6 F[V]=94% F[I]=0% Nali=16 0.249 0.249 0.000 0.570 0.218 S108R Neutral Neutral Neutral Disease Neutral 4 F[S]=65% F[R]=0% Nali=16 0.347 0.471 0.050 0.645 0.318 P109L Neutral Disease Disease Disease Disease 3 F[P]=100% F[L]=0% Nali=16 0.137 0.602 0.000 0.710 0.655 P109S Neutral Disease Disease Disease Disease 3 F[P]=100% F[S]=0% Nali=16 0.164 0.567 0.000 0.725 0.645 V111M Neutral Neutral Disease Disease Neutral 7 F[V]=88% F[M]=6% Nali=16 0.480 0.249 0.000 0.605 0.167 S112R Disease Disease Disease Disease Disease 3 F[S]=94% F[R]=0% Nali=16 0.522 0.588 0.000 0.760 0.657 S112T Neutral Neutral Disease Disease Neutral 5 F[S]=94% F[T]=0% Nali=16 0.499 0.418 0.000 0.690 0.252 H113Q Disease Disease Disease Disease Disease 4 F[H]=94% F[Q]=0% Nali=16 0.574 0.616 0.000 0.750 0.676 R114C Disease Disease Disease Disease Disease 4 F[R]=100% F[C]=0% Nali=16 0.677 0.759 0.000 0.760 0.701 R114H Disease Disease Disease Disease Disease 4 F[R]=100% F[H]=0% Nali=16 0.519 0.781 0.000 0.760 0.713 L115P Disease Disease Disease Disease Disease 5 F[L]=100% F[P]=0% Nali=16 0.690 0.876 0.000 0.725 0.739 D117E Neutral Disease Disease Disease Disease 3 F[D]=94% F[E]=0% Nali=16 0.227 0.643 0.000 0.630 0.639 D117N Neutral Disease Neutral Disease Neutral 3 F[D]=94% F[N]=6% Nali=16 0.141 0.562 0.370 0.520 0.341 Q118E Neutral Disease Disease Disease Disease 2 F[Q]=82% F[E]=0% Nali=16 0.295 0.566 0.010 0.590 0.599 Q118H Disease Disease Disease Disease Disease 2 F[Q]=82% F[H]=0% Nali=16 0.542 0.670 0.000 0.680 0.617 Q118K Neutral Disease Disease Disease Disease 2 F[Q]=82% F[K]=0% Nali=16 0.163 0.723 0.030 0.595 0.605 E119Q Neutral Disease Disease Disease Disease 3 F[E]=94% F[Q]=0% Nali=16 0.173 0.717 0.000 0.600 0.636 L120F Disease Disease Disease Disease Disease 3 F[L]=100% F[F]=0% Nali=16 0.580 0.659 0.000 0.710 0.671 L120S Neutral Disease Disease Disease Disease 4 F[L]=100% F[S]=0% Nali=16 0.201 0.809 0.000 0.700 0.697 L122F Neutral Disease Disease Disease Disease 3 F[L]=100% F[F]=0% Nali=16 0.298 0.693 0.000 0.690 0.663 L122I Neutral Disease Disease Disease Disease 3 F[L]=100% F[I]=0% Nali=16 0.336 0.685 0.000 0.585 0.641 L122V Neutral Disease Disease Disease Disease 3 F[L]=100% F[V]=0% Nali=16 0.298 0.652 0.000 0.555 0.630 A124S Neutral Disease Disease Disease Disease 3 F[A]=100% F[S]=0% Nali=16 0.235 0.706 0.000 0.635 0.653 A124T Neutral Disease Disease Disease Disease 4 F[A]=100% F[T]=0% Nali=16 0.320 0.711 0.000 0.735 0.684 D125E Neutral Disease Disease Disease Disease 3 F[D]=100% F[E]=0% Nali=16 0.327 0.761 0.000 0.645 0.672 D125H Disease Disease Disease Disease Disease 6 F[D]=100% F[H]=0% Nali=16 0.645 0.846 0.000 0.815 0.780 L127F Neutral Neutral Neutral Neutral Neutral 2 F[L]=53% F[F]=0% Nali=16 0.404 0.492 0.190 0.485 0.421 C128Y Neutral Disease Disease Disease Disease 6 F[C]=100% F[Y]=0% Nali=16 0.473 0.943 0.000 0.740 0.819 H131N Neutral Disease Disease Disease Disease 4 F[H]=100% F[N]=0% Nali=17 0.316 0.851 0.000 0.655 0.694 H131R Neutral Disease Disease Disease Disease 4 F[H]=100% F[R]=0% Nali=17 0.302 0.875 0.000 0.740 0.723 R132C Disease Disease Disease Disease Disease 4 F[R]=100% F[C]=0% Nali=17 0.740 0.841 0.000 0.695 0.695 R132H Disease Disease Disease Disease Disease 4 F[R]=100% F[H]=0% Nali=17 0.513 0.841 0.000 0.645 0.699 R132L Neutral Disease Disease Disease Disease 4 F[R]=100% F[L]=0% Nali=17 0.376 0.910 0.000 0.650 0.716 D134E Neutral Disease Disease Neutral Neutral 0 F[D]=72% F[E]=0% Nali=17 0.327 0.639 0.000 0.435 0.480 D134N Neutral Neutral Neutral Neutral Neutral 6 F[D]=72% F[N]=22% Nali=17 0.353 0.328 0.110 0.265 0.206 D134V Disease Disease Disease Disease Disease 3 F[D]=72% F[V]=0% Nali=17 0.630 0.805 0.000 0.575 0.647 V135I Neutral Neutral Disease Neutral Neutral 3 F[V]=94% F[I]=0% Nali=16 0.262 0.471 0.000 0.375 0.351 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