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: WP_000227942.1.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile A149T NA Neutral NA NA Neutral 7 F[A]=25% F[T]=4% Nali=776 - 0.256 - - 0.163 K235N NA Neutral NA NA Neutral 7 F[K]=15% F[N]=2% Nali=891 - 0.227 - - 0.156 V346A NA Neutral NA NA Neutral 6 F[V]=4% F[A]=72% Nali=998 - 0.042 - - 0.201 Y370H NA Neutral NA NA Neutral 6 F[Y]=10% F[H]=15% Nali=975 - 0.180 - - 0.181 N392T NA Disease NA NA Disease 2 F[N]=88% F[T]=0% Nali=998 - 0.816 - - 0.591 S441P NA Disease NA NA Disease 0 F[S]=14% F[P]=1% Nali=954 - 0.705 - - 0.512 L480I NA Neutral NA NA Neutral 7 F[L]=14% F[I]=15% Nali=972 - 0.054 - - 0.152 Q488K NA Neutral NA NA Neutral 7 F[Q]=27% F[K]=8% Nali=990 - 0.400 - - 0.172 P492S NA Neutral NA NA Neutral 7 F[P]=34% F[S]=5% Nali=990 - 0.337 - - 0.171 Q497E NA Neutral NA NA Neutral 7 F[Q]=18% F[E]=12% Nali=988 - 0.255 - - 0.151 M507I NA Neutral NA NA Neutral 7 F[M]=2% F[I]=4% Nali=969 - 0.240 - - 0.140 T511S NA Neutral NA NA Neutral 7 F[T]=71% F[S]=15% Nali=942 - 0.335 - - 0.159 A515V NA Disease NA NA Neutral 0 F[A]=73% F[V]=3% Nali=988 - 0.783 - - 0.489 G523V NA Disease NA NA Disease 3 F[G]=43% F[V]=1% Nali=989 - 0.855 - - 0.627 V565L NA Neutral NA NA Neutral 6 F[V]=34% F[L]=19% Nali=983 - 0.265 - - 0.179 A583V NA Disease NA NA Neutral 0 F[A]=16% F[V]=0% Nali=909 - 0.509 - - 0.487 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