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 L41F Disease Neutral Disease Disease Neutral 1 F[L]=100% F[F]=0% Nali=44 0.809 0.284 0.020 0.690 0.442 Y44H Disease Disease Disease Disease Disease 5 F[Y]=100% F[H]=0% Nali=45 0.911 0.620 0.000 0.785 0.738 P48L Neutral Neutral Neutral Neutral Neutral 7 F[P]=43% F[L]=0% Nali=45 0.492 0.133 0.140 0.415 0.157 S51P Neutral Disease Neutral Disease Neutral 1 F[S]=63% F[P]=2% Nali=45 0.429 0.536 0.160 0.525 0.465 G59D Disease Disease Disease Disease Disease 3 F[G]=70% F[D]=0% Nali=45 0.774 0.597 0.020 0.675 0.646 Q62P Disease Disease Disease Disease Disease 4 F[Q]=52% F[P]=0% Nali=45 0.819 0.759 0.010 0.675 0.687 T72P Disease Disease Neutral Disease Disease 5 F[T]=39% F[P]=0% Nali=45 0.741 0.772 0.090 0.585 0.746 C79R Disease Disease Neutral Disease Disease 7 F[C]=74% F[R]=0% Nali=45 0.832 0.948 0.120 0.730 0.836 G81C Disease Disease Disease Disease Disease 5 F[G]=40% F[C]=0% Nali=46 0.736 0.786 0.030 0.540 0.748 G97R Disease Disease Neutral Disease Disease 5 F[G]=78% F[R]=0% Nali=45 0.805 0.818 0.150 0.735 0.732 V102G Disease Disease Neutral Disease Disease 4 F[V]=43% F[G]=0% Nali=45 0.518 0.629 0.350 0.545 0.691 Y103C Disease Disease Disease Disease Disease 6 F[Y]=72% F[C]=0% Nali=45 0.942 0.795 0.010 0.715 0.789 P107L Disease Disease Disease Disease Disease 2 F[P]=76% F[L]=0% Nali=45 0.670 0.580 0.000 0.560 0.618 P108A Disease Disease Disease Disease Disease 3 F[P]=100% F[A]=0% Nali=42 0.791 0.636 0.010 0.620 0.640 I118M Disease Disease Disease Disease Disease 6 F[I]=96% F[M]=0% Nali=46 0.876 0.695 0.000 0.780 0.775 S121L Disease Disease Disease Disease Disease 3 F[S]=63% F[L]=0% Nali=45 0.859 0.541 0.000 0.665 0.659 G122V Disease Disease Disease Disease Disease 6 F[G]=100% F[V]=0% Nali=46 0.965 0.787 0.000 0.770 0.816 G125D Disease Disease Disease Disease Disease 7 F[G]=100% F[D]=0% Nali=46 0.956 0.817 0.000 0.855 0.852 G125S Disease Disease Disease Disease Disease 7 F[G]=100% F[S]=0% Nali=46 0.924 0.735 0.000 0.810 0.834 T146N Disease Disease Neutral Disease Disease 4 F[T]=40% F[N]=0% Nali=46 0.684 0.588 0.080 0.565 0.697 L147F Disease Neutral Neutral Neutral Disease 0 F[L]=62% F[F]=2% Nali=46 0.739 0.466 0.070 0.315 0.516 L147S Disease Disease Neutral Neutral Neutral 0 F[L]=62% F[S]=0% Nali=46 0.576 0.648 0.110 0.380 0.493 Q156H Disease Disease Disease Disease Disease 1 F[Q]=83% F[H]=2% Nali=46 0.534 0.691 0.030 0.585 0.528 Q156K Disease Disease Neutral Neutral Disease 1 F[Q]=83% F[K]=2% Nali=46 0.541 0.779 0.080 0.490 0.544 F244L Neutral Neutral Disease Disease Neutral 5 F[F]=95% F[L]=0% Nali=21 0.235 0.319 0.000 0.600 0.241 D247E Neutral Neutral Disease Neutral Neutral 5 F[D]=91% F[E]=0% Nali=21 0.339 0.293 0.000 0.460 0.250 D247H Disease Neutral Disease Disease Neutral 4 F[D]=91% F[H]=0% Nali=21 0.700 0.411 0.000 0.685 0.306 L250F Neutral Neutral Disease Disease Neutral 5 F[L]=96% F[F]=0% Nali=22 0.386 0.224 0.000 0.565 0.241 D252G Neutral Neutral Disease Disease Neutral 1 F[D]=100% F[G]=0% Nali=22 0.420 0.474 0.000 0.675 0.452 D260V Disease Disease Disease Disease Disease 3 F[D]=100% F[V]=0% Nali=22 0.627 0.662 0.000 0.660 0.641 T266N Neutral Neutral Disease Disease Neutral 5 F[T]=96% F[N]=0% Nali=22 0.134 0.204 0.000 0.725 0.263 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