********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: SP.seq Mutation Prediction RI Probability Method M1I Neutral 5 0.234 PhD-SNP: F[M]=100% F[I]=0% Nali=5 M1I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M1I Neutral 5 0.234 SNPs&GO P40A Neutral 5 0.229 PhD-SNP: F[P]=43% F[A]=0% Nali=100 P40A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P40A Neutral 9 0.062 SNPs&GO P40L Neutral 2 0.383 PhD-SNP: F[P]=43% F[L]=0% Nali=100 P40L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P40L Neutral 7 0.129 SNPs&GO P40T Neutral 3 0.361 PhD-SNP: F[P]=43% F[T]=0% Nali=100 P40T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P40T Neutral 9 0.069 SNPs&GO A67P Disease 8 0.911 PhD-SNP: F[A]=87% F[P]=0% Nali=126 A67P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A67P Disease 6 0.820 SNPs&GO A67S Disease 7 0.850 PhD-SNP: F[A]=87% F[S]=0% Nali=126 A67S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A67S Disease 4 0.714 SNPs&GO A67T Disease 7 0.850 PhD-SNP: F[A]=87% F[T]=1% Nali=126 A67T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A67T Disease 3 0.635 SNPs&GO K86I Neutral 1 0.446 PhD-SNP: F[K]=32% F[I]=1% Nali=122 K86I Neutral 3 0.351 PANTHER: F[K]=42% F[I]=1% K86I Neutral 4 0.275 SNPs&GO K86T Neutral 2 0.395 PhD-SNP: F[K]=32% F[T]=1% Nali=122 K86T Neutral 5 0.245 PANTHER: F[K]=42% F[T]=3% K86T Neutral 6 0.178 SNPs&GO I127F Disease 1 0.558 PhD-SNP: F[I]=25% F[F]=2% Nali=95 I127F Neutral 5 0.255 PANTHER: F[I]=39% F[F]=3% I127F Neutral 5 0.270 SNPs&GO I127N Disease 5 0.746 PhD-SNP: F[I]=25% F[N]=0% Nali=95 I127N Neutral 1 0.435 PANTHER: F[I]=39% F[N]=1% I127N Disease 2 0.578 SNPs&GO I127S Disease 4 0.683 PhD-SNP: F[I]=25% F[S]=2% Nali=95 I127S Neutral 4 0.300 PANTHER: F[I]=39% F[S]=2% I127S Neutral 1 0.433 SNPs&GO R145G Disease 3 0.627 PhD-SNP: F[R]=19% F[G]=0% Nali=287 R145G Neutral 4 0.306 PANTHER: F[R]=45% F[G]=2% R145G Neutral 3 0.369 SNPs&GO R145I Neutral 3 0.369 PhD-SNP: F[R]=19% F[I]=2% Nali=287 R145I Neutral 3 0.369 PANTHER: F[R]=45% F[I]=1% R145I Neutral 5 0.233 SNPs&GO R145T Neutral 1 0.462 PhD-SNP: F[R]=19% F[T]=1% Nali=287 R145T Neutral 5 0.271 PANTHER: F[R]=45% F[T]=3% R145T Neutral 5 0.233 SNPs&GO R170C Disease 1 0.564 PhD-SNP: F[R]=8% F[C]=0% Nali=376 R170C Disease 2 0.598 PANTHER: F[R]=45% F[C]=0% R170C Neutral 1 0.453 SNPs&GO R170G Neutral 0 0.488 PhD-SNP: F[R]=8% F[G]=0% Nali=376 R170G Neutral 4 0.306 PANTHER: F[R]=45% F[G]=2% R170G Neutral 4 0.306 SNPs&GO R170H Neutral 4 0.307 PhD-SNP: F[R]=8% F[H]=0% Nali=376 R170H Neutral 3 0.368 PANTHER: F[R]=45% F[H]=1% R170H Neutral 5 0.266 SNPs&GO R170L Disease 1 0.550 PhD-SNP: F[R]=8% F[L]=0% Nali=376 R170L Neutral 5 0.271 PANTHER: F[R]=45% F[L]=3% R170L Neutral 3 0.344 SNPs&GO R170P Disease 5 0.750 PhD-SNP: F[R]=8% F[P]=3% Nali=376 R170P Neutral 2 0.408 PANTHER: F[R]=45% F[P]=1% R170P Disease 2 0.624 SNPs&GO R170S Neutral 2 0.384 PhD-SNP: F[R]=8% F[S]=4% Nali=376 R170S Neutral 5 0.240 PANTHER: F[R]=45% F[S]=3% R170S Neutral 5 0.253 SNPs&GO E182V Neutral 0 0.476 PhD-SNP: F[E]=21% F[V]=0% Nali=392 E182V Neutral 4 0.316 PANTHER: F[E]=43% F[V]=2% E182V Neutral 5 0.270 SNPs&GO E184G Disease 1 0.530 PhD-SNP: F[E]=62% F[G]=2% Nali=386 E184G Neutral 5 0.250 PANTHER: F[E]=43% F[G]=3% E184G Neutral 6 0.184 SNPs&GO E184K Disease 3 0.641 PhD-SNP: F[E]=62% F[K]=3% Nali=386 E184K Neutral 6 0.177 PANTHER: F[E]=43% F[K]=5% E184K Neutral 4 0.318 SNPs&GO E184V Disease 3 0.637 PhD-SNP: F[E]=62% F[V]=1% Nali=386 E184V Neutral 4 0.316 PANTHER: F[E]=43% F[V]=2% E184V Neutral 4 0.306 SNPs&GO K192M Neutral 6 0.200 PhD-SNP: F[K]=26% F[M]=2% Nali=374 K192M Neutral 1 0.467 PANTHER: F[K]=30% F[M]=1% K192M Neutral 8 0.085 SNPs&GO K192T Neutral 6 0.211 PhD-SNP: F[K]=26% F[T]=3% Nali=374 K192T Neutral 5 0.243 PANTHER: F[K]=30% F[T]=3% K192T Neutral 9 0.069 SNPs&GO T193K Neutral 2 0.388 PhD-SNP: F[T]=28% F[K]=1% Nali=381 T193K Neutral 5 0.259 PANTHER: F[T]=29% F[K]=3% T193K Neutral 6 0.181 SNPs&GO T193M Neutral 6 0.225 PhD-SNP: F[T]=28% F[M]=0% Nali=381 T193M Neutral 2 0.418 PANTHER: F[T]=29% F[M]=1% T193M Neutral 8 0.107 SNPs&GO T193P Neutral 1 0.457 PhD-SNP: F[T]=28% F[P]=5% Nali=381 T193P Neutral 3 0.343 PANTHER: F[T]=29% F[P]=2% T193P Neutral 6 0.210 SNPs&GO D210H Neutral 5 0.227 PhD-SNP: F[D]=14% F[H]=1% Nali=497 D210H Neutral 1 0.427 PANTHER: F[D]=30% F[H]=1% D210H Neutral 7 0.148 SNPs&GO D210N Neutral 8 0.124 PhD-SNP: F[D]=14% F[N]=8% Nali=497 D210N Neutral 5 0.227 PANTHER: F[D]=30% F[N]=5% D210N Neutral 8 0.080 SNPs&GO D210Y Neutral 3 0.334 PhD-SNP: F[D]=14% F[Y]=1% Nali=497 D210Y Disease 1 0.560 PANTHER: F[D]=30% F[Y]=0% D210Y Neutral 4 0.282 SNPs&GO G229R Disease 9 0.940 PhD-SNP: F[G]=99% F[R]=0% Nali=634 G229R Disease 9 0.971 PANTHER: F[G]=94% F[R]=0% G229R Disease 8 0.888 SNPs&GO G229W Disease 9 0.950 PhD-SNP: F[G]=99% F[W]=0% Nali=634 G229W Disease 10 0.990 PANTHER: F[G]=94% F[W]=0% G229W Disease 8 0.879 SNPs&GO P281A Neutral 1 0.469 PhD-SNP: F[P]=66% F[A]=2% Nali=630 P281A Disease 10 0.977 PANTHER: F[P]=97% F[A]=0% P281A Disease 3 0.630 SNPs&GO P281L Disease 4 0.701 PhD-SNP: F[P]=66% F[L]=2% Nali=630 P281L Disease 10 0.989 PANTHER: F[P]=97% F[L]=0% P281L Disease 6 0.792 SNPs&GO P281Q Disease 4 0.712 PhD-SNP: F[P]=66% F[Q]=1% Nali=630 P281Q Disease 10 0.992 PANTHER: F[P]=97% F[Q]=0% P281Q Disease 6 0.812 SNPs&GO P281R Disease 6 0.781 PhD-SNP: F[P]=66% F[R]=1% Nali=630 P281R Disease 10 0.989 PANTHER: F[P]=97% F[R]=0% P281R Disease 6 0.824 SNPs&GO P281S Disease 2 0.617 PhD-SNP: F[P]=66% F[S]=3% Nali=630 P281S Disease 10 0.982 PANTHER: F[P]=97% F[S]=0% P281S Disease 5 0.737 SNPs&GO P281T Disease 3 0.653 PhD-SNP: F[P]=66% F[T]=3% Nali=630 P281T Disease 10 0.986 PANTHER: F[P]=97% F[T]=0% P281T Disease 5 0.733 SNPs&GO P283Q Neutral 6 0.207 PhD-SNP: F[P]=22% F[Q]=5% Nali=577 P283Q Neutral 2 0.402 PANTHER: F[P]=42% F[Q]=3% P283Q Neutral 7 0.161 SNPs&GO L298F Disease 5 0.767 PhD-SNP: F[L]=81% F[F]=0% Nali=651 L298F Disease 9 0.963 PANTHER: F[L]=93% F[F]=0% L298F Disease 4 0.693 SNPs&GO L298I Disease 5 0.741 PhD-SNP: F[L]=81% F[I]=1% Nali=651 L298I Disease 9 0.938 PANTHER: F[L]=93% F[I]=1% L298I Disease 3 0.645 SNPs&GO L298V Disease 2 0.577 PhD-SNP: F[L]=81% F[V]=11% Nali=651 L298V Disease 9 0.955 PANTHER: F[L]=93% F[V]=0% L298V Disease 3 0.652 SNPs&GO A392E Disease 8 0.878 PhD-SNP: F[A]=63% F[E]=1% Nali=623 A392E Disease 2 0.604 PANTHER: F[A]=62% F[E]=1% A392E Disease 5 0.761 SNPs&GO A392G Disease 6 0.785 PhD-SNP: F[A]=63% F[G]=5% Nali=623 A392G Neutral 1 0.469 PANTHER: F[A]=62% F[G]=3% A392G Disease 0 0.514 SNPs&GO A392P Disease 8 0.924 PhD-SNP: F[A]=63% F[P]=1% Nali=623 A392P Disease 3 0.641 PANTHER: F[A]=62% F[P]=1% A392P Disease 6 0.819 SNPs&GO A392S Disease 4 0.699 PhD-SNP: F[A]=63% F[S]=9% Nali=623 A392S Neutral 3 0.372 PANTHER: F[A]=62% F[S]=5% A392S Neutral 0 0.484 SNPs&GO A392T Disease 6 0.777 PhD-SNP: F[A]=63% F[T]=2% Nali=623 A392T Neutral 1 0.440 PANTHER: F[A]=62% F[T]=4% A392T Disease 2 0.585 SNPs&GO A392V Disease 6 0.813 PhD-SNP: F[A]=63% F[V]=2% Nali=623 A392V Neutral 0 0.489 PANTHER: F[A]=62% F[V]=3% A392V Disease 2 0.606 SNPs&GO E401K Disease 2 0.589 PhD-SNP: F[E]=18% F[K]=9% Nali=625 E401K Neutral 4 0.302 PANTHER: F[E]=35% F[K]=4% E401K Neutral 3 0.350 SNPs&GO T438I Disease 7 0.860 PhD-SNP: F[T]=77% F[I]=0% Nali=607 T438I Disease 1 0.547 PANTHER: F[T]=59% F[I]=2% T438I Disease 2 0.609 SNPs&GO T438N Disease 7 0.864 PhD-SNP: F[T]=77% F[N]=3% Nali=607 T438N Disease 2 0.584 PANTHER: F[T]=59% F[N]=1% T438N Disease 3 0.631 SNPs&GO T438S Disease 5 0.741 PhD-SNP: F[T]=77% F[S]=4% Nali=607 T438S Neutral 2 0.382 PANTHER: F[T]=59% F[S]=4% T438S Neutral 1 0.428 SNPs&GO V442F Disease 6 0.796 PhD-SNP: F[V]=17% F[F]=2% Nali=609 V442F Disease 2 0.596 PANTHER: F[V]=57% F[F]=1% V442F Disease 5 0.735 SNPs&GO V442I Neutral 5 0.241 PhD-SNP: F[V]=17% F[I]=7% Nali=609 V442I Neutral 5 0.225 PANTHER: F[V]=57% F[I]=11% V442I Neutral 8 0.095 SNPs&GO V558A Neutral 1 0.434 PhD-SNP: F[V]=41% F[A]=2% Nali=445 V558A Neutral 5 0.232 PANTHER: F[V]=28% F[A]=5% V558A Neutral 7 0.159 SNPs&GO V558D Disease 6 0.823 PhD-SNP: F[V]=41% F[D]=0% Nali=445 V558D Neutral 2 0.422 PANTHER: F[V]=28% F[D]=1% V558D Disease 1 0.559 SNPs&GO V558F Disease 3 0.643 PhD-SNP: F[V]=41% F[F]=4% Nali=445 V558F Neutral 2 0.414 PANTHER: F[V]=28% F[F]=2% V558F Neutral 3 0.339 SNPs&GO V558G Disease 3 0.664 PhD-SNP: F[V]=41% F[G]=1% Nali=445 V558G Neutral 2 0.396 PANTHER: F[V]=28% F[G]=2% V558G Neutral 5 0.271 SNPs&GO V558I Neutral 6 0.196 PhD-SNP: F[V]=41% F[I]=7% Nali=445 V558I Neutral 6 0.217 PANTHER: F[V]=28% F[I]=5% V558I Neutral 9 0.056 SNPs&GO F579C Disease 9 0.951 PhD-SNP: F[F]=92% F[C]=0% Nali=499 F579C Disease 9 0.966 PANTHER: F[F]=84% F[C]=0% F579C Disease 7 0.834 SNPs&GO F579S Disease 9 0.951 PhD-SNP: F[F]=92% F[S]=0% Nali=499 F579S Disease 8 0.924 PANTHER: F[F]=84% F[S]=0% F579S Disease 7 0.834 SNPs&GO F579Y Disease 9 0.927 PhD-SNP: F[F]=92% F[Y]=1% Nali=499 F579Y Disease 4 0.697 PANTHER: F[F]=84% F[Y]=3% F579Y Disease 5 0.759 SNPs&GO K615I Neutral 3 0.337 PhD-SNP: F[K]=36% F[I]=8% Nali=451 K615I Disease 4 0.699 PANTHER: F[K]=60% F[I]=1% K615I Neutral 3 0.338 SNPs&GO A616D Neutral 1 0.446 PhD-SNP: F[A]=11% F[D]=2% Nali=455 A616D Disease 3 0.633 PANTHER: F[A]=62% F[D]=1% A616D Disease 2 0.623 SNPs&GO A616P Disease 1 0.532 PhD-SNP: F[A]=11% F[P]=3% Nali=455 A616P Disease 3 0.641 PANTHER: F[A]=62% F[P]=1% A616P Disease 2 0.603 SNPs&GO A616S Neutral 8 0.079 PhD-SNP: F[A]=11% F[S]=15% Nali=455 A616S Neutral 3 0.372 PANTHER: F[A]=62% F[S]=5% A616S Neutral 8 0.124 SNPs&GO A616T Neutral 7 0.128 PhD-SNP: F[A]=11% F[T]=2% Nali=455 A616T Neutral 1 0.440 PANTHER: F[A]=62% F[T]=4% A616T Neutral 7 0.175 SNPs&GO A616V Neutral 7 0.162 PhD-SNP: F[A]=11% F[V]=2% Nali=455 A616V Neutral 0 0.489 PANTHER: F[A]=62% F[V]=3% A616V Neutral 5 0.245 SNPs&GO Q622H Neutral 7 0.150 PhD-SNP: F[Q]=22% F[H]=6% Nali=426 Q622H Neutral 2 0.404 PANTHER: F[Q]=24% F[H]=1% Q622H Neutral 9 0.073 SNPs&GO L628F Disease 1 0.573 PhD-SNP: F[L]=36% F[F]=1% Nali=469 L628F Neutral 0 0.496 PANTHER: F[L]=65% F[F]=3% L628F Neutral 3 0.356 SNPs&GO I653F Disease 1 0.534 PhD-SNP: F[I]=25% F[F]=3% Nali=390 I653F Disease 0 0.510 PANTHER: F[I]=45% F[F]=2% I653F Disease 0 0.510 SNPs&GO I653M Neutral 3 0.340 PhD-SNP: F[I]=25% F[M]=4% Nali=390 I653M Neutral 1 0.459 PANTHER: F[I]=45% F[M]=2% I653M Neutral 4 0.298 SNPs&GO I653N Disease 5 0.731 PhD-SNP: F[I]=25% F[N]=1% Nali=390 I653N Disease 5 0.747 PANTHER: F[I]=45% F[N]=0% I653N Disease 6 0.805 SNPs&GO I653S Disease 1 0.567 PhD-SNP: F[I]=25% F[S]=10% Nali=390 I653S Disease 2 0.606 PANTHER: F[I]=45% F[S]=1% I653S Disease 3 0.639 SNPs&GO I653T Neutral 1 0.463 PhD-SNP: F[I]=25% F[T]=4% Nali=390 I653T Neutral 1 0.471 PANTHER: F[I]=45% F[T]=2% I653T Neutral 2 0.402 SNPs&GO S678C Neutral 3 0.337 PhD-SNP: F[S]=17% F[C]=7% Nali=358 S678C Neutral 1 0.465 PANTHER: F[S]=18% F[C]=1% S678C Neutral 8 0.118 SNPs&GO S678F Neutral 2 0.410 PhD-SNP: F[S]=17% F[F]=1% Nali=358 S678F Neutral 4 0.319 PANTHER: F[S]=18% F[F]=2% S678F Neutral 7 0.153 SNPs&GO S678Y Neutral 0 0.479 PhD-SNP: F[S]=17% F[Y]=0% Nali=358 S678Y Neutral 3 0.340 PANTHER: F[S]=18% F[Y]=1% S678Y Neutral 7 0.166 SNPs&GO E690Q Neutral 5 0.264 PhD-SNP: F[E]=35% F[Q]=6% Nali=349 E690Q Neutral 4 0.287 PANTHER: F[E]=32% F[Q]=4% E690Q Neutral 7 0.137 SNPs&GO S710C Neutral 5 0.256 PhD-SNP: F[S]=17% F[C]=4% Nali=396 S710C Disease 4 0.683 PANTHER: F[S]=25% F[C]=0% S710C Neutral 5 0.226 SNPs&GO S710F Neutral 4 0.291 PhD-SNP: F[S]=17% F[F]=1% Nali=396 S710F Disease 1 0.555 PANTHER: F[S]=25% F[F]=0% S710F Neutral 5 0.257 SNPs&GO S710Y Neutral 4 0.291 PhD-SNP: F[S]=17% F[Y]=1% Nali=396 S710Y Disease 0 0.501 PANTHER: F[S]=25% F[Y]=1% S710Y Neutral 6 0.223 SNPs&GO S740C Disease 0 0.502 PhD-SNP: F[S]=25% F[C]=2% Nali=822 S740C Neutral 3 0.370 PANTHER: F[S]=14% F[C]=0% S740C Neutral 8 0.083 SNPs&GO S740G Neutral 4 0.303 PhD-SNP: F[S]=25% F[G]=2% Nali=822 S740G Neutral 7 0.131 PANTHER: F[S]=14% F[G]=4% S740G Neutral 9 0.027 SNPs&GO S740I Disease 1 0.538 PhD-SNP: F[S]=25% F[I]=1% Nali=822 S740I Neutral 5 0.238 PANTHER: F[S]=14% F[I]=1% S740I Neutral 8 0.104 SNPs&GO S740R Disease 2 0.589 PhD-SNP: F[S]=25% F[R]=0% Nali=822 S740R Neutral 7 0.144 PANTHER: F[S]=14% F[R]=3% S740R Neutral 8 0.096 SNPs&GO S740T Neutral 7 0.171 PhD-SNP: F[S]=25% F[T]=4% Nali=822 S740T Neutral 8 0.114 PANTHER: F[S]=14% F[T]=4% S740T Neutral 10 0.020 SNPs&GO L746F Neutral 2 0.387 PhD-SNP: F[L]=89% F[F]=4% Nali=902 L746F Neutral 3 0.339 PANTHER: F[L]=48% F[F]=4% L746F Neutral 8 0.111 SNPs&GO L746I Neutral 3 0.347 PhD-SNP: F[L]=89% F[I]=2% Nali=902 L746I Neutral 6 0.202 PANTHER: F[L]=48% F[I]=9% L746I Neutral 9 0.073 SNPs&GO L746V Neutral 4 0.287 PhD-SNP: F[L]=89% F[V]=3% Nali=902 L746V Neutral 5 0.233 PANTHER: F[L]=48% F[V]=7% L746V Neutral 9 0.071 SNPs&GO L775M Disease 2 0.591 PhD-SNP: F[L]=80% F[M]=1% Nali=967 L775M Neutral 5 0.267 PANTHER: F[L]=41% F[M]=4% L775M Neutral 7 0.150 SNPs&GO L792H Neutral 1 0.441 PhD-SNP: F[L]=9% F[H]=0% Nali=1070 L792H Neutral 3 0.350 PANTHER: F[L]=16% F[H]=1% L792H Neutral 7 0.136 SNPs&GO L792R Disease 1 0.568 PhD-SNP: F[L]=9% F[R]=3% Nali=1070 L792R Neutral 6 0.225 PANTHER: F[L]=16% F[R]=3% L792R Neutral 7 0.164 SNPs&GO L832S Disease 6 0.777 PhD-SNP: F[L]=88% F[S]=0% Nali=1148 L832S Disease 3 0.634 PANTHER: F[L]=54% F[S]=1% L832S Disease 2 0.584 SNPs&GO L832W Disease 5 0.765 PhD-SNP: F[L]=88% F[W]=0% Nali=1148 L832W Disease 6 0.819 PANTHER: F[L]=54% F[W]=0% L832W Neutral 0 0.490 SNPs&GO K878E Neutral 2 0.378 PhD-SNP: F[K]=4% F[E]=1% Nali=1125 K878E Neutral 7 0.151 PANTHER: F[K]=21% F[E]=6% K878E Neutral 8 0.119 SNPs&GO K878N Neutral 4 0.275 PhD-SNP: F[K]=4% F[N]=0% Nali=1125 K878N Neutral 6 0.212 PANTHER: F[K]=21% F[N]=4% K878N Neutral 8 0.092 SNPs&GO K878Q Neutral 6 0.200 PhD-SNP: F[K]=4% F[Q]=3% Nali=1125 K878Q Neutral 6 0.188 PANTHER: F[K]=21% F[Q]=5% K878Q Neutral 9 0.054 SNPs&GO L889F Disease 6 0.786 PhD-SNP: F[L]=91% F[F]=1% Nali=1148 L889F Disease 9 0.952 PANTHER: F[L]=92% F[F]=0% L889F Disease 4 0.724 SNPs&GO N911I Disease 7 0.858 PhD-SNP: F[N]=69% F[I]=0% Nali=1092 N911I Disease 9 0.943 PANTHER: F[N]=83% F[I]=0% N911I Disease 6 0.810 SNPs&GO N911T Disease 4 0.699 PhD-SNP: F[N]=69% F[T]=3% Nali=1092 N911T Disease 7 0.866 PANTHER: F[N]=83% F[T]=1% N911T Disease 4 0.691 SNPs&GO L917P Disease 8 0.876 PhD-SNP: F[L]=92% F[P]=0% Nali=1094 L917P Disease 10 0.982 PANTHER: F[L]=90% F[P]=0% L917P Disease 5 0.774 SNPs&GO L917Q Disease 8 0.889 PhD-SNP: F[L]=92% F[Q]=0% Nali=1094 L917Q Disease 10 0.982 PANTHER: F[L]=90% F[Q]=0% L917Q Disease 7 0.837 SNPs&GO L917R Disease 8 0.896 PhD-SNP: F[L]=92% F[R]=0% Nali=1094 L917R Disease 10 0.981 PANTHER: F[L]=90% F[R]=0% L917R Disease 7 0.838 SNPs&GO S968C Neutral 0 0.478 PhD-SNP: F[S]=16% F[C]=4% Nali=812 S968C Neutral 1 0.467 PANTHER: F[S]=20% F[C]=0% S968C Neutral 8 0.124 SNPs&GO S968G Neutral 4 0.324 PhD-SNP: F[S]=16% F[G]=1% Nali=812 S968G Neutral 6 0.188 PANTHER: F[S]=20% F[G]=3% S968G Neutral 9 0.047 SNPs&GO S968I Disease 1 0.566 PhD-SNP: F[S]=16% F[I]=0% Nali=812 S968I Neutral 4 0.324 PANTHER: F[S]=20% F[I]=1% S968I Neutral 7 0.166 SNPs&GO S968R Disease 3 0.646 PhD-SNP: F[S]=16% F[R]=0% Nali=812 S968R Neutral 6 0.206 PANTHER: F[S]=20% F[R]=3% S968R Neutral 7 0.160 SNPs&GO S968T Neutral 6 0.191 PhD-SNP: F[S]=16% F[T]=2% Nali=812 S968T Neutral 7 0.162 PANTHER: F[S]=20% F[T]=4% S968T Neutral 9 0.026 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. ** ** ** **********************************************************************************************