********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: fileseq.seq Mutation Prediction RI Probability Method L5P Neutral 0 0.477 PhD-SNP: F[L]=78% F[P]=0% Nali=26 L5P Neutral 3 0.336 PANTHER: F[L]=14% F[P]=1% L5P Neutral 5 0.235 SNPs&GO R15C Disease 2 0.616 PhD-SNP: F[R]=63% F[C]=0% Nali=56 R15C Disease 3 0.644 PANTHER: F[R]=27% F[C]=0% R15C Neutral 3 0.348 SNPs&GO R15H Neutral 0 0.477 PhD-SNP: F[R]=63% F[H]=0% Nali=56 R15H Neutral 0 0.490 PANTHER: F[R]=27% F[H]=1% R15H Neutral 5 0.232 SNPs&GO H16Y Disease 2 0.585 PhD-SNP: F[H]=74% F[Y]=0% Nali=56 H16Y Neutral 4 0.297 PANTHER: F[H]=23% F[Y]=3% H16Y Neutral 6 0.182 SNPs&GO D25G Disease 3 0.655 PhD-SNP: F[D]=70% F[G]=0% Nali=56 D25G Neutral 3 0.360 PANTHER: F[D]=34% F[G]=3% D25G Neutral 5 0.225 SNPs&GO R26W Disease 7 0.864 PhD-SNP: F[R]=84% F[W]=0% Nali=56 R26W Disease 7 0.829 PANTHER: F[R]=26% F[W]=0% R26W Disease 2 0.592 SNPs&GO Y39C Disease 7 0.837 PhD-SNP: F[Y]=72% F[C]=0% Nali=56 Y39C Disease 3 0.668 PANTHER: F[Y]=27% F[C]=0% Y39C Neutral 0 0.491 SNPs&GO L42F Disease 4 0.682 PhD-SNP: F[L]=96% F[F]=0% Nali=54 L42F Disease 0 0.511 PANTHER: F[L]=29% F[F]=2% L42F Neutral 2 0.421 SNPs&GO L42S Disease 5 0.774 PhD-SNP: F[L]=96% F[S]=0% Nali=54 L42S Neutral 3 0.356 PANTHER: F[L]=29% F[S]=4% L42S Neutral 1 0.465 SNPs&GO E44G Disease 4 0.719 PhD-SNP: F[E]=75% F[G]=0% Nali=54 E44G Neutral 3 0.356 PANTHER: F[E]=19% F[G]=2% E44G Neutral 6 0.182 SNPs&GO D47E Neutral 5 0.270 PhD-SNP: F[D]=64% F[E]=19% Nali=46 D47E Neutral 8 0.096 PANTHER: F[D]=12% F[E]=12% D47E Neutral 9 0.065 SNPs&GO D47H Disease 3 0.669 PhD-SNP: F[D]=64% F[H]=0% Nali=46 D47H Neutral 7 0.147 PANTHER: F[D]=12% F[H]=6% D47H Neutral 7 0.125 SNPs&GO V51A Neutral 3 0.342 PhD-SNP: F[V]=53% F[A]=2% Nali=52 V51A Neutral 8 0.104 PANTHER: F[V]=10% F[A]=8% V51A Neutral 9 0.057 SNPs&GO V51M Disease 0 0.508 PhD-SNP: F[V]=53% F[M]=0% Nali=52 V51M Neutral 3 0.342 PANTHER: F[V]=10% F[M]=1% V51M Neutral 8 0.105 SNPs&GO E59G Disease 2 0.577 PhD-SNP: F[E]=72% F[G]=0% Nali=56 E59G Neutral 2 0.380 PANTHER: F[E]=35% F[G]=3% E59G Neutral 5 0.252 SNPs&GO S70N Disease 0 0.525 PhD-SNP: F[S]=67% F[N]=0% Nali=50 S70N Neutral 4 0.321 PANTHER: F[S]=22% F[N]=3% S70N Neutral 4 0.276 SNPs&GO D74H Disease 3 0.634 PhD-SNP: F[D]=54% F[H]=2% Nali=45 D74H Neutral 4 0.287 PANTHER: F[D]=10% F[H]=2% D74H Neutral 4 0.277 SNPs&GO L88R Disease 6 0.810 PhD-SNP: F[L]=47% F[R]=0% Nali=59 L88R Neutral 3 0.354 PANTHER: F[L]=34% F[R]=5% L88R Disease 1 0.538 SNPs&GO H92Y Disease 0 0.502 PhD-SNP: F[H]=45% F[Y]=7% Nali=59 H92Y Neutral 4 0.300 PANTHER: F[H]=17% F[Y]=3% H92Y Neutral 6 0.202 SNPs&GO H100Y Disease 0 0.508 PhD-SNP: F[H]=67% F[Y]=11% Nali=63 H100Y Neutral 8 0.113 PANTHER: F[H]=12% F[Y]=13% H100Y Neutral 8 0.078 SNPs&GO R103C Disease 0 0.517 PhD-SNP: F[R]=45% F[C]=12% Nali=66 R103C Neutral 6 0.200 PANTHER: F[R]=14% F[C]=6% R103C Neutral 8 0.098 SNPs&GO R103L Disease 5 0.766 PhD-SNP: F[R]=45% F[L]=0% Nali=66 R103L Neutral 3 0.341 PANTHER: F[R]=14% F[L]=2% R103L Neutral 2 0.404 SNPs&GO A107V Disease 3 0.632 PhD-SNP: F[A]=61% F[V]=0% Nali=66 A107V Disease 1 0.562 PANTHER: F[A]=31% F[V]=2% A107V Neutral 2 0.381 SNPs&GO V110M Disease 4 0.707 PhD-SNP: F[V]=60% F[M]=1% Nali=67 V110M Disease 1 0.557 PANTHER: F[V]=33% F[M]=2% V110M Neutral 3 0.348 SNPs&GO Q118R Disease 6 0.784 PhD-SNP: F[Q]=55% F[R]=0% Nali=66 Q118R Neutral 7 0.143 PANTHER: F[Q]=12% F[R]=8% Q118R Neutral 6 0.207 SNPs&GO Q125E Neutral 2 0.415 PhD-SNP: F[Q]=48% F[E]=9% Nali=66 Q125E Neutral 6 0.199 PANTHER: F[Q]=19% F[E]=8% Q125E Neutral 7 0.162 SNPs&GO L135W Disease 1 0.556 PhD-SNP: F[L]=35% F[W]=0% Nali=67 L135W Disease 4 0.721 PANTHER: F[L]=9% F[W]=0% L135W Neutral 3 0.333 SNPs&GO T143M Neutral 5 0.254 PhD-SNP: F[T]=32% F[M]=0% Nali=59 T143M Neutral 0 0.482 PANTHER: F[T]=11% F[M]=1% T143M Neutral 8 0.106 SNPs&GO E144Q Neutral 2 0.382 PhD-SNP: F[E]=69% F[Q]=3% Nali=60 E144Q Neutral 6 0.216 PANTHER: F[E]=13% F[Q]=5% E144Q Neutral 9 0.067 SNPs&GO C145Y Disease 4 0.678 PhD-SNP: F[C]=42% F[Y]=0% Nali=59 C145Y Neutral 3 0.366 PANTHER: F[C]=13% F[Y]=2% C145Y Neutral 4 0.292 SNPs&GO L148R Disease 2 0.597 PhD-SNP: F[L]=64% F[R]=3% Nali=60 L148R Disease 4 0.719 PANTHER: F[L]=44% F[R]=1% L148R Disease 1 0.543 SNPs&GO L148V Neutral 5 0.236 PhD-SNP: F[L]=64% F[V]=3% Nali=60 L148V Neutral 2 0.412 PANTHER: F[L]=44% F[V]=6% L148V Neutral 7 0.131 SNPs&GO R149C Disease 1 0.546 PhD-SNP: F[R]=39% F[C]=0% Nali=60 R149C Disease 3 0.653 PANTHER: F[R]=11% F[C]=0% R149C Neutral 4 0.293 SNPs&GO R149G Neutral 0 0.495 PhD-SNP: F[R]=39% F[G]=0% Nali=60 R149G Neutral 4 0.304 PANTHER: F[R]=11% F[G]=2% R149G Neutral 7 0.137 SNPs&GO N159D Disease 0 0.519 PhD-SNP: F[N]=70% F[D]=0% Nali=66 N159D Disease 0 0.505 PANTHER: F[N]=30% F[D]=2% N159D Neutral 3 0.348 SNPs&GO N159S Neutral 2 0.388 PhD-SNP: F[N]=70% F[S]=6% Nali=66 N159S Neutral 5 0.232 PANTHER: F[N]=30% F[S]=10% N159S Neutral 8 0.114 SNPs&GO Q160E Neutral 4 0.307 PhD-SNP: F[Q]=43% F[E]=6% Nali=67 Q160E Neutral 6 0.181 PANTHER: F[Q]=15% F[E]=8% Q160E Neutral 9 0.074 SNPs&GO K163T Neutral 3 0.369 PhD-SNP: F[K]=35% F[T]=1% Nali=70 K163T Neutral 5 0.247 PANTHER: F[K]=13% F[T]=4% K163T Neutral 8 0.083 SNPs&GO E165K Disease 5 0.747 PhD-SNP: F[E]=76% F[K]=4% Nali=69 E165K Neutral 5 0.230 PANTHER: F[E]=33% F[K]=12% E165K Neutral 4 0.310 SNPs&GO Y166C Disease 6 0.784 PhD-SNP: F[Y]=45% F[C]=0% Nali=68 Y166C Neutral 1 0.452 PANTHER: F[Y]=19% F[C]=2% Y166C Neutral 1 0.440 SNPs&GO D167G Disease 2 0.609 PhD-SNP: F[D]=33% F[G]=0% Nali=68 D167G Neutral 4 0.298 PANTHER: F[D]=10% F[G]=2% D167G Neutral 7 0.155 SNPs&GO A168V Disease 4 0.689 PhD-SNP: F[A]=74% F[V]=1% Nali=68 A168V Neutral 1 0.429 PANTHER: F[A]=20% F[V]=2% A168V Neutral 3 0.325 SNPs&GO I171V Neutral 5 0.238 PhD-SNP: F[I]=30% F[V]=3% Nali=65 I171V Neutral 8 0.115 PANTHER: F[I]=13% F[V]=12% I171V Neutral 9 0.036 SNPs&GO K179N Neutral 0 0.475 PhD-SNP: F[K]=57% F[N]=7% Nali=68 K179N Neutral 3 0.359 PANTHER: F[K]=25% F[N]=4% K179N Neutral 6 0.204 SNPs&GO K179R Neutral 1 0.442 PhD-SNP: F[K]=57% F[R]=1% Nali=68 K179R Neutral 6 0.213 PANTHER: F[K]=25% F[R]=10% K179R Neutral 8 0.112 SNPs&GO R181K Disease 2 0.584 PhD-SNP: F[R]=71% F[K]=2% Nali=65 R181K Neutral 6 0.202 PANTHER: F[R]=18% F[K]=8% R181K Neutral 6 0.196 SNPs&GO Q188H Neutral 4 0.324 PhD-SNP: F[Q]=35% F[H]=0% Nali=71 Q188H Neutral 3 0.360 PANTHER: F[Q]=11% F[H]=2% Q188H Neutral 8 0.091 SNPs&GO Q188L Neutral 1 0.458 PhD-SNP: F[Q]=35% F[L]=0% Nali=71 Q188L Neutral 5 0.261 PANTHER: F[Q]=11% F[L]=3% Q188L Neutral 8 0.122 SNPs&GO E189K Neutral 2 0.393 PhD-SNP: F[E]=36% F[K]=4% Nali=71 E189K Neutral 7 0.171 PANTHER: F[E]=14% F[K]=8% E189K Neutral 8 0.112 SNPs&GO A199D Disease 5 0.729 PhD-SNP: F[A]=41% F[D]=1% Nali=78 A199D Neutral 4 0.286 PANTHER: F[A]=17% F[D]=4% A199D Neutral 3 0.362 SNPs&GO E201K Disease 2 0.587 PhD-SNP: F[E]=32% F[K]=0% Nali=73 E201K Neutral 6 0.224 PANTHER: F[E]=18% F[K]=7% E201K Neutral 6 0.197 SNPs&GO N203S Neutral 6 0.192 PhD-SNP: F[N]=23% F[S]=5% Nali=77 N203S Neutral 7 0.141 PANTHER: F[N]=13% F[S]=9% N203S Neutral 9 0.044 SNPs&GO N206Y Disease 2 0.613 PhD-SNP: F[N]=71% F[Y]=0% Nali=75 N206Y Disease 8 0.913 PANTHER: F[N]=79% F[Y]=0% N206Y Disease 4 0.699 SNPs&GO R216Q Disease 1 0.559 PhD-SNP: F[R]=54% F[Q]=0% Nali=82 R216Q Neutral 4 0.321 PANTHER: F[R]=20% F[Q]=4% R216Q Neutral 5 0.227 SNPs&GO R216W Disease 4 0.717 PhD-SNP: F[R]=54% F[W]=0% Nali=82 R216W Disease 6 0.814 PANTHER: F[R]=20% F[W]=0% R216W Neutral 0 0.486 SNPs&GO A218T Neutral 2 0.412 PhD-SNP: F[A]=69% F[T]=1% Nali=84 A218T Neutral 3 0.350 PANTHER: F[A]=22% F[T]=4% A218T Neutral 7 0.160 SNPs&GO R219W Disease 3 0.638 PhD-SNP: F[R]=43% F[W]=0% Nali=82 R219W Disease 8 0.888 PANTHER: F[R]=31% F[W]=0% R219W Disease 2 0.593 SNPs&GO Q221H Neutral 6 0.206 PhD-SNP: F[Q]=46% F[H]=1% Nali=84 Q221H Neutral 1 0.448 PANTHER: F[Q]=17% F[H]=2% Q221H Neutral 9 0.074 SNPs&GO K222N Neutral 6 0.214 PhD-SNP: F[K]=42% F[N]=5% Nali=85 K222N Neutral 6 0.186 PANTHER: F[K]=16% F[N]=8% K222N Neutral 9 0.048 SNPs&GO E223K Disease 0 0.512 PhD-SNP: F[E]=57% F[K]=3% Nali=85 E223K Neutral 5 0.253 PANTHER: F[E]=21% F[K]=7% E223K Neutral 7 0.162 SNPs&GO A227T Neutral 1 0.472 PhD-SNP: F[A]=73% F[T]=2% Nali=85 A227T Disease 0 0.512 PANTHER: F[A]=41% F[T]=3% A227T Neutral 2 0.384 SNPs&GO A228T Neutral 4 0.312 PhD-SNP: F[A]=59% F[T]=5% Nali=81 A228T Neutral 3 0.353 PANTHER: F[A]=44% F[T]=8% A228T Neutral 6 0.197 SNPs&GO A228V Neutral 6 0.213 PhD-SNP: F[A]=59% F[V]=12% Nali=81 A228V Neutral 6 0.221 PANTHER: F[A]=44% F[V]=18% A228V Neutral 9 0.071 SNPs&GO P231L Neutral 0 0.475 PhD-SNP: F[P]=60% F[L]=1% Nali=79 P231L Neutral 6 0.183 PANTHER: F[P]=26% F[L]=7% P231L Neutral 8 0.110 SNPs&GO D237V Disease 2 0.586 PhD-SNP: F[D]=50% F[V]=1% Nali=71 D237V Neutral 4 0.275 PANTHER: F[D]=11% F[V]=3% D237V Neutral 7 0.143 SNPs&GO D237Y Disease 2 0.606 PhD-SNP: F[D]=50% F[Y]=1% Nali=71 D237Y Neutral 1 0.432 PANTHER: F[D]=11% F[Y]=1% D237Y Neutral 5 0.228 SNPs&GO I240S Disease 3 0.629 PhD-SNP: F[I]=49% F[S]=0% Nali=69 I240S Neutral 7 0.134 PANTHER: F[I]=13% F[S]=9% I240S Neutral 7 0.143 SNPs&GO E241K Neutral 2 0.392 PhD-SNP: F[E]=52% F[K]=4% Nali=74 E241K Neutral 6 0.206 PANTHER: F[E]=13% F[K]=5% E241K Neutral 8 0.108 SNPs&GO R286C Disease 4 0.694 PhD-SNP: F[R]=45% F[C]=0% Nali=163 R286C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R286C Neutral 3 0.369 SNPs&GO R286H Neutral 1 0.432 PhD-SNP: F[R]=45% F[H]=3% Nali=163 R286H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R286H Neutral 6 0.201 SNPs&GO R286L Disease 2 0.596 PhD-SNP: F[R]=45% F[L]=2% Nali=163 R286L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R286L Neutral 4 0.293 SNPs&GO P311S Neutral 3 0.372 PhD-SNP: F[P]=45% F[S]=7% Nali=507 P311S Disease 8 0.893 PANTHER: F[P]=91% F[S]=0% P311S Disease 2 0.606 SNPs&GO F318V Disease 6 0.816 PhD-SNP: F[F]=28% F[V]=1% Nali=1885 F318V Neutral 3 0.326 PANTHER: F[F]=22% F[V]=5% F318V Neutral 3 0.350 SNPs&GO H321R Disease 9 0.938 PhD-SNP: F[H]=93% F[R]=0% Nali=2418 H321R Disease 3 0.664 PANTHER: F[H]=54% F[R]=2% H321R Disease 6 0.818 SNPs&GO E324A Neutral 7 0.145 PhD-SNP: F[E]=11% F[A]=11% Nali=2485 E324A Disease 4 0.698 PANTHER: F[E]=62% F[A]=2% E324A Neutral 5 0.255 SNPs&GO E324D Neutral 6 0.176 PhD-SNP: F[E]=11% F[D]=4% Nali=2485 E324D Disease 1 0.541 PANTHER: F[E]=62% F[D]=5% E324D Neutral 5 0.251 SNPs&GO N326D Neutral 4 0.290 PhD-SNP: F[N]=17% F[D]=1% Nali=2582 N326D Neutral 2 0.405 PANTHER: F[N]=26% F[D]=4% N326D Neutral 6 0.195 SNPs&GO A327D Disease 4 0.724 PhD-SNP: F[A]=18% F[D]=3% Nali=2599 A327D Neutral 5 0.236 PANTHER: F[A]=33% F[D]=13% A327D Neutral 5 0.266 SNPs&GO V328M Disease 5 0.729 PhD-SNP: F[V]=68% F[M]=1% Nali=2615 V328M Neutral 1 0.432 PANTHER: F[V]=52% F[M]=7% V328M Neutral 5 0.242 SNPs&GO Q329H Neutral 3 0.365 PhD-SNP: F[Q]=4% F[H]=1% Nali=2614 Q329H Neutral 6 0.199 PANTHER: F[Q]=11% F[H]=6% Q329H Neutral 9 0.062 SNPs&GO R335Q Neutral 4 0.299 PhD-SNP: F[R]=17% F[Q]=20% Nali=2637 R335Q Neutral 5 0.273 PANTHER: F[R]=20% F[Q]=4% R335Q Neutral 7 0.131 SNPs&GO R335W Disease 5 0.753 PhD-SNP: F[R]=17% F[W]=0% Nali=2637 R335W Disease 6 0.814 PANTHER: F[R]=20% F[W]=0% R335W Disease 0 0.524 SNPs&GO A338S Disease 6 0.788 PhD-SNP: F[A]=69% F[S]=1% Nali=2643 A338S Disease 2 0.609 PANTHER: F[A]=57% F[S]=3% A338S Neutral 0 0.498 SNPs&GO G341D Disease 7 0.849 PhD-SNP: F[G]=18% F[D]=2% Nali=2617 G341D Disease 8 0.921 PANTHER: F[G]=91% F[D]=0% G341D Disease 7 0.861 SNPs&GO R344H Disease 1 0.542 PhD-SNP: F[R]=17% F[H]=3% Nali=2668 R344H Disease 5 0.747 PANTHER: F[R]=51% F[H]=1% R344H Neutral 0 0.489 SNPs&GO V346G Disease 7 0.838 PhD-SNP: F[V]=38% F[G]=0% Nali=2676 V346G Disease 8 0.906 PANTHER: F[V]=51% F[G]=0% V346G Disease 3 0.655 SNPs&GO L348F Disease 5 0.761 PhD-SNP: F[L]=62% F[F]=1% Nali=2678 L348F Disease 2 0.623 PANTHER: F[L]=44% F[F]=2% L348F Neutral 2 0.416 SNPs&GO E357A Neutral 4 0.298 PhD-SNP: F[E]=22% F[A]=5% Nali=2259 E357A Neutral 1 0.444 PANTHER: F[E]=31% F[A]=4% E357A Neutral 7 0.140 SNPs&GO E357K Neutral 2 0.420 PhD-SNP: F[E]=22% F[K]=8% Nali=2259 E357K Neutral 2 0.388 PANTHER: F[E]=31% F[K]=5% E357K Neutral 6 0.221 SNPs&GO G360C Disease 5 0.743 PhD-SNP: F[G]=15% F[C]=0% Nali=1896 G360C Disease 5 0.752 PANTHER: F[G]=16% F[C]=0% G360C Disease 2 0.576 SNPs&GO G360D Disease 2 0.590 PhD-SNP: F[G]=15% F[D]=2% Nali=1896 G360D Neutral 4 0.306 PANTHER: F[G]=16% F[D]=4% G360D Neutral 4 0.302 SNPs&GO G360S Neutral 4 0.320 PhD-SNP: F[G]=15% F[S]=7% Nali=1896 G360S Neutral 6 0.183 PANTHER: F[G]=16% F[S]=9% G360S Neutral 8 0.083 SNPs&GO G360V Neutral 0 0.489 PhD-SNP: F[G]=15% F[V]=1% Nali=1896 G360V Neutral 1 0.429 PANTHER: F[G]=16% F[V]=2% G360V Neutral 5 0.255 SNPs&GO S363F Neutral 2 0.424 PhD-SNP: F[S]=10% F[F]=1% Nali=2707 S363F Disease 1 0.554 PANTHER: F[S]=19% F[F]=1% S363F Neutral 6 0.221 SNPs&GO S365G Neutral 1 0.452 PhD-SNP: F[S]=5% F[G]=1% Nali=2720 S365G Disease 2 0.600 PANTHER: F[S]=45% F[G]=3% S365G Neutral 3 0.350 SNPs&GO A367T Neutral 4 0.280 PhD-SNP: F[A]=11% F[T]=2% Nali=2780 A367T Neutral 0 0.498 PANTHER: F[A]=32% F[T]=3% A367T Neutral 5 0.262 SNPs&GO I372T Disease 0 0.503 PhD-SNP: F[I]=12% F[T]=1% Nali=2851 I372T Disease 2 0.622 PANTHER: F[I]=31% F[T]=1% I372T Neutral 1 0.472 SNPs&GO S376R Disease 7 0.825 PhD-SNP: F[S]=10% F[R]=3% Nali=2852 S376R Neutral 5 0.229 PANTHER: F[S]=21% F[R]=9% S376R Neutral 5 0.272 SNPs&GO G378R Disease 8 0.892 PhD-SNP: F[G]=81% F[R]=1% Nali=2859 G378R Neutral 6 0.195 PANTHER: F[G]=22% F[R]=11% G378R Neutral 3 0.328 SNPs&GO Y380S Disease 1 0.551 PhD-SNP: F[Y]=11% F[S]=2% Nali=2849 Y380S Neutral 7 0.129 PANTHER: F[Y]=13% F[S]=12% Y380S Neutral 8 0.106 SNPs&GO F388L Neutral 2 0.409 PhD-SNP: F[F]=2% F[L]=1% Nali=2858 F388L Neutral 5 0.262 PANTHER: F[F]=10% F[L]=3% F388L Neutral 7 0.150 SNPs&GO W393C Disease 9 0.941 PhD-SNP: F[W]=97% F[C]=0% Nali=2872 W393C Disease 9 0.970 PANTHER: F[W]=90% F[C]=0% W393C Disease 5 0.742 SNPs&GO D396Y Disease 1 0.556 PhD-SNP: F[D]=12% F[Y]=1% Nali=2863 D396Y Disease 3 0.638 PANTHER: F[D]=21% F[Y]=1% D396Y Neutral 3 0.366 SNPs&GO L400S Disease 1 0.538 PhD-SNP: F[L]=30% F[S]=3% Nali=2890 L400S Neutral 6 0.220 PANTHER: F[L]=36% F[S]=15% L400S Neutral 8 0.108 SNPs&GO L404F Neutral 0 0.485 PhD-SNP: F[L]=72% F[F]=15% Nali=2927 L404F Neutral 1 0.445 PANTHER: F[L]=64% F[F]=8% L404F Neutral 7 0.174 SNPs&GO T405A Neutral 6 0.180 PhD-SNP: F[T]=17% F[A]=3% Nali=2909 T405A Neutral 1 0.428 PANTHER: F[T]=44% F[A]=6% T405A Neutral 6 0.196 SNPs&GO T405M Neutral 5 0.242 PhD-SNP: F[T]=17% F[M]=1% Nali=2909 T405M Disease 7 0.854 PANTHER: F[T]=44% F[M]=0% T405M Neutral 2 0.422 SNPs&GO K415N Neutral 1 0.426 PhD-SNP: F[K]=5% F[N]=5% Nali=2921 K415N Disease 1 0.541 PANTHER: F[K]=42% F[N]=3% K415N Neutral 2 0.377 SNPs&GO N420Y Disease 3 0.636 PhD-SNP: F[N]=4% F[Y]=0% Nali=2931 N420Y Disease 1 0.550 PANTHER: F[N]=14% F[Y]=1% N420Y Neutral 4 0.291 SNPs&GO A421E Disease 1 0.539 PhD-SNP: F[A]=4% F[E]=5% Nali=2936 A421E Neutral 6 0.215 PANTHER: F[A]=15% F[E]=6% A421E Neutral 7 0.155 SNPs&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm PhD-SNP: SVM input is the sequence and profile at the mutated position SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************