********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: CRADD_HUMAN.seq Mutation Prediction RI Probability Method L9R Disease 1 0.559 PhD-SNP: F[L]=100% F[R]=0% Nali=20 L9R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L9R Neutral 2 0.404 SNPs&GO R10C Neutral 0 0.480 PhD-SNP: F[R]=95% F[C]=0% Nali=20 R10C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R10C Neutral 2 0.382 SNPs&GO R10H Neutral 0 0.490 PhD-SNP: F[R]=95% F[H]=0% Nali=20 R10H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R10H Neutral 4 0.286 SNPs&GO R10L Disease 3 0.651 PhD-SNP: F[R]=95% F[L]=0% Nali=20 R10L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R10L Neutral 1 0.470 SNPs&GO R10S Disease 1 0.536 PhD-SNP: F[R]=95% F[S]=0% Nali=20 R10S Unclassified NA NA PANTHER: F[R]=NA F[S]=NA R10S Neutral 1 0.441 SNPs&GO R13C Disease 3 0.630 PhD-SNP: F[R]=90% F[C]=0% Nali=20 R13C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R13C Neutral 1 0.469 SNPs&GO R13H Disease 3 0.641 PhD-SNP: F[R]=90% F[H]=0% Nali=20 R13H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R13H Neutral 2 0.401 SNPs&GO R13L Disease 4 0.699 PhD-SNP: F[R]=90% F[L]=5% Nali=20 R13L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R13L Disease 0 0.505 SNPs&GO L14P Disease 3 0.631 PhD-SNP: F[L]=90% F[P]=5% Nali=20 L14P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L14P Neutral 0 0.478 SNPs&GO L14V Neutral 4 0.324 PhD-SNP: F[L]=90% F[V]=0% Nali=20 L14V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L14V Neutral 4 0.300 SNPs&GO E15G Neutral 1 0.427 PhD-SNP: F[E]=81% F[G]=0% Nali=20 E15G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E15G Neutral 6 0.224 SNPs&GO L16V Neutral 2 0.382 PhD-SNP: F[L]=100% F[V]=0% Nali=20 L16V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L16V Neutral 3 0.375 SNPs&GO E19K Disease 2 0.608 PhD-SNP: F[E]=81% F[K]=0% Nali=20 E19K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E19K Neutral 3 0.362 SNPs&GO L21F Neutral 2 0.387 PhD-SNP: F[L]=90% F[F]=0% Nali=20 L21F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L21F Neutral 4 0.295 SNPs&GO V22M Disease 2 0.615 PhD-SNP: F[V]=86% F[M]=0% Nali=20 V22M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V22M Neutral 4 0.319 SNPs&GO L30F Neutral 0 0.493 PhD-SNP: F[L]=100% F[F]=0% Nali=20 L30F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L30F Neutral 2 0.396 SNPs&GO L30I Neutral 1 0.442 PhD-SNP: F[L]=100% F[I]=0% Nali=20 L30I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L30I Neutral 2 0.422 SNPs&GO Y31H Disease 4 0.708 PhD-SNP: F[Y]=76% F[H]=0% Nali=20 Y31H Unclassified NA NA PANTHER: F[Y]=NA F[H]=NA Y31H Neutral 3 0.374 SNPs&GO Q32H Disease 4 0.695 PhD-SNP: F[Q]=95% F[H]=0% Nali=20 Q32H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q32H Neutral 2 0.415 SNPs&GO Q32P Disease 7 0.847 PhD-SNP: F[Q]=95% F[P]=0% Nali=20 Q32P Unclassified NA NA PANTHER: F[Q]=NA F[P]=NA Q32P Disease 3 0.663 SNPs&GO E33A Disease 4 0.679 PhD-SNP: F[E]=100% F[A]=0% Nali=20 E33A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E33A Neutral 1 0.434 SNPs&GO E33G Disease 2 0.616 PhD-SNP: F[E]=100% F[G]=0% Nali=20 E33G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E33G Neutral 2 0.389 SNPs&GO G34R Disease 5 0.749 PhD-SNP: F[G]=81% F[R]=0% Nali=20 G34R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G34R Neutral 0 0.498 SNPs&GO I35L Disease 3 0.657 PhD-SNP: F[I]=76% F[L]=0% Nali=20 I35L Unclassified NA NA PANTHER: F[I]=NA F[L]=NA I35L Neutral 3 0.345 SNPs&GO I35T Disease 5 0.746 PhD-SNP: F[I]=76% F[T]=0% Nali=20 I35T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I35T Neutral 2 0.404 SNPs&GO T37M Neutral 0 0.492 PhD-SNP: F[T]=90% F[M]=0% Nali=20 T37M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T37M Neutral 4 0.277 SNPs&GO E38K Neutral 0 0.497 PhD-SNP: F[E]=71% F[K]=0% Nali=20 E38K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E38K Neutral 4 0.292 SNPs&GO H40P Disease 4 0.679 PhD-SNP: F[H]=76% F[P]=0% Nali=20 H40P Unclassified NA NA PANTHER: F[H]=NA F[P]=NA H40P Neutral 3 0.375 SNPs&GO H40R Neutral 2 0.402 PhD-SNP: F[H]=76% F[R]=0% Nali=20 H40R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H40R Neutral 6 0.187 SNPs&GO Q42L Neutral 2 0.378 PhD-SNP: F[Q]=67% F[L]=0% Nali=20 Q42L Unclassified NA NA PANTHER: F[Q]=NA F[L]=NA Q42L Neutral 8 0.120 SNPs&GO E43K Disease 2 0.610 PhD-SNP: F[E]=90% F[K]=0% Nali=20 E43K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E43K Neutral 4 0.312 SNPs&GO E43Q Neutral 1 0.464 PhD-SNP: F[E]=90% F[Q]=0% Nali=20 E43Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E43Q Neutral 6 0.183 SNPs&GO I44L Disease 0 0.523 PhD-SNP: F[I]=90% F[L]=0% Nali=20 I44L Unclassified NA NA PANTHER: F[I]=NA F[L]=NA I44L Neutral 6 0.194 SNPs&GO I44M Disease 0 0.515 PhD-SNP: F[I]=90% F[M]=0% Nali=20 I44M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I44M Neutral 6 0.203 SNPs&GO A46V Neutral 5 0.268 PhD-SNP: F[A]=67% F[V]=0% Nali=20 A46V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A46V Neutral 8 0.117 SNPs&GO Q47H Neutral 4 0.308 PhD-SNP: F[Q]=81% F[H]=0% Nali=20 Q47H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q47H Neutral 8 0.122 SNPs&GO T49A Neutral 2 0.390 PhD-SNP: F[T]=90% F[A]=0% Nali=20 T49A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T49A Neutral 5 0.261 SNPs&GO T49R Disease 3 0.664 PhD-SNP: F[T]=90% F[R]=0% Nali=20 T49R Unclassified NA NA PANTHER: F[T]=NA F[R]=NA T49R Neutral 2 0.405 SNPs&GO G50A Neutral 7 0.174 PhD-SNP: F[G]=57% F[A]=0% Nali=20 G50A Unclassified NA NA PANTHER: F[G]=NA F[A]=NA G50A Neutral 8 0.088 SNPs&GO R52G Neutral 3 0.373 PhD-SNP: F[R]=76% F[G]=0% Nali=20 R52G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R52G Neutral 4 0.284 SNPs&GO R52W Neutral 1 0.472 PhD-SNP: F[R]=76% F[W]=0% Nali=20 R52W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R52W Neutral 5 0.268 SNPs&GO T54I Neutral 1 0.442 PhD-SNP: F[T]=81% F[I]=0% Nali=20 T54I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T54I Neutral 5 0.238 SNPs&GO L58P Disease 1 0.554 PhD-SNP: F[L]=95% F[P]=0% Nali=20 L58P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L58P Neutral 3 0.364 SNPs&GO I60S Disease 3 0.663 PhD-SNP: F[I]=95% F[S]=0% Nali=20 I60S Unclassified NA NA PANTHER: F[I]=NA F[S]=NA I60S Neutral 2 0.390 SNPs&GO P62L Neutral 2 0.400 PhD-SNP: F[P]=90% F[L]=5% Nali=20 P62L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P62L Neutral 6 0.181 SNPs&GO P62S Neutral 3 0.344 PhD-SNP: F[P]=90% F[S]=0% Nali=20 P62S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P62S Neutral 6 0.178 SNPs&GO P62T Neutral 4 0.302 PhD-SNP: F[P]=90% F[T]=0% Nali=20 P62T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P62T Neutral 8 0.107 SNPs&GO R64G Neutral 2 0.389 PhD-SNP: F[R]=95% F[G]=0% Nali=20 R64G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R64G Neutral 3 0.369 SNPs&GO R64M Neutral 2 0.401 PhD-SNP: F[R]=95% F[M]=0% Nali=20 R64M Unclassified NA NA PANTHER: F[R]=NA F[M]=NA R64M Neutral 5 0.262 SNPs&GO G65V Disease 4 0.689 PhD-SNP: F[G]=100% F[V]=0% Nali=20 G65V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G65V Neutral 1 0.434 SNPs&GO P66A Neutral 4 0.279 PhD-SNP: F[P]=95% F[A]=5% Nali=20 P66A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P66A Neutral 8 0.105 SNPs&GO P66R Disease 3 0.639 PhD-SNP: F[P]=95% F[R]=0% Nali=20 P66R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P66R Neutral 5 0.232 SNPs&GO P66S Neutral 1 0.463 PhD-SNP: F[P]=95% F[S]=0% Nali=20 P66S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P66S Neutral 6 0.194 SNPs&GO K67E Neutral 2 0.409 PhD-SNP: F[K]=71% F[E]=0% Nali=20 K67E Unclassified NA NA PANTHER: F[K]=NA F[E]=NA K67E Neutral 5 0.230 SNPs&GO A68T Disease 0 0.501 PhD-SNP: F[A]=100% F[T]=0% Nali=20 A68T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A68T Neutral 7 0.174 SNPs&GO F69L Disease 2 0.591 PhD-SNP: F[F]=100% F[L]=0% Nali=20 F69L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F69L Neutral 5 0.232 SNPs&GO D70G Neutral 4 0.315 PhD-SNP: F[D]=62% F[G]=5% Nali=20 D70G Unclassified NA NA PANTHER: F[D]=NA F[G]=NA D70G Neutral 7 0.131 SNPs&GO D70V Neutral 3 0.360 PhD-SNP: F[D]=62% F[V]=0% Nali=20 D70V Unclassified NA NA PANTHER: F[D]=NA F[V]=NA D70V Neutral 7 0.174 SNPs&GO F72L Disease 3 0.629 PhD-SNP: F[F]=100% F[L]=0% Nali=20 F72L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F72L Neutral 4 0.276 SNPs&GO D74A Disease 1 0.549 PhD-SNP: F[D]=76% F[A]=5% Nali=20 D74A Unclassified NA NA PANTHER: F[D]=NA F[A]=NA D74A Neutral 5 0.231 SNPs&GO D74V Disease 3 0.660 PhD-SNP: F[D]=76% F[V]=0% Nali=20 D74V Unclassified NA NA PANTHER: F[D]=NA F[V]=NA D74V Neutral 2 0.391 SNPs&GO E78G Disease 1 0.571 PhD-SNP: F[E]=81% F[G]=0% Nali=20 E78G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E78G Neutral 3 0.350 SNPs&GO W81R Disease 4 0.710 PhD-SNP: F[W]=95% F[R]=0% Nali=20 W81R Unclassified NA NA PANTHER: F[W]=NA F[R]=NA W81R Neutral 1 0.452 SNPs&GO R83G Neutral 2 0.395 PhD-SNP: F[R]=81% F[G]=0% Nali=20 R83G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R83G Neutral 2 0.396 SNPs&GO E84G Neutral 4 0.318 PhD-SNP: F[E]=71% F[G]=0% Nali=20 E84G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E84G Neutral 6 0.196 SNPs&GO K85E Neutral 3 0.338 PhD-SNP: F[K]=71% F[E]=0% Nali=20 K85E Unclassified NA NA PANTHER: F[K]=NA F[E]=NA K85E Neutral 4 0.284 SNPs&GO K85T Neutral 5 0.272 PhD-SNP: F[K]=71% F[T]=0% Nali=20 K85T Unclassified NA NA PANTHER: F[K]=NA F[T]=NA K85T Neutral 7 0.157 SNPs&GO I110N Disease 0 0.505 PhD-SNP: F[I]=67% F[N]=0% Nali=14 I110N Unclassified NA NA PANTHER: F[I]=NA F[N]=NA I110N Neutral 6 0.197 SNPs&GO L111I Neutral 5 0.251 PhD-SNP: F[L]=86% F[I]=0% Nali=13 L111I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L111I Neutral 8 0.124 SNPs&GO S113C Neutral 6 0.223 PhD-SNP: F[S]=56% F[C]=0% Nali=15 S113C Unclassified NA NA PANTHER: F[S]=NA F[C]=NA S113C Neutral 9 0.072 SNPs&GO S113N Neutral 6 0.188 PhD-SNP: F[S]=56% F[N]=0% Nali=15 S113N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S113N Neutral 8 0.076 SNPs&GO P115A Neutral 5 0.226 PhD-SNP: F[P]=94% F[A]=0% Nali=15 P115A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P115A Neutral 8 0.078 SNPs&GO D117H Neutral 3 0.369 PhD-SNP: F[D]=71% F[H]=0% Nali=16 D117H Unclassified NA NA PANTHER: F[D]=NA F[H]=NA D117H Neutral 8 0.089 SNPs&GO D117N Neutral 5 0.255 PhD-SNP: F[D]=71% F[N]=0% Nali=16 D117N Unclassified NA NA PANTHER: F[D]=NA F[N]=NA D117N Neutral 8 0.092 SNPs&GO R118W Neutral 6 0.215 PhD-SNP: F[R]=35% F[W]=0% Nali=16 R118W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R118W Neutral 8 0.116 SNPs&GO Q119R Neutral 5 0.261 PhD-SNP: F[Q]=71% F[R]=0% Nali=16 Q119R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q119R Neutral 8 0.099 SNPs&GO N121T Neutral 5 0.241 PhD-SNP: F[N]=76% F[T]=0% Nali=16 N121T Unclassified NA NA PANTHER: F[N]=NA F[T]=NA N121T Neutral 9 0.065 SNPs&GO A124T Neutral 3 0.358 PhD-SNP: F[A]=94% F[T]=0% Nali=16 A124T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A124T Neutral 8 0.104 SNPs&GO R126S Neutral 3 0.358 PhD-SNP: F[R]=65% F[S]=0% Nali=16 R126S Unclassified NA NA PANTHER: F[R]=NA F[S]=NA R126S Neutral 6 0.212 SNPs&GO G128A Disease 0 0.518 PhD-SNP: F[G]=100% F[A]=0% Nali=16 G128A Unclassified NA NA PANTHER: F[G]=NA F[A]=NA G128A Neutral 4 0.300 SNPs&GO G128D Disease 4 0.708 PhD-SNP: F[G]=100% F[D]=0% Nali=16 G128D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G128D Neutral 0 0.497 SNPs&GO G128R Disease 3 0.655 PhD-SNP: F[G]=100% F[R]=0% Nali=16 G128R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G128R Neutral 2 0.386 SNPs&GO G128S Disease 1 0.571 PhD-SNP: F[G]=100% F[S]=0% Nali=16 G128S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G128S Neutral 4 0.310 SNPs&GO G128V Disease 3 0.652 PhD-SNP: F[G]=100% F[V]=0% Nali=16 G128V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G128V Neutral 1 0.445 SNPs&GO W131G Neutral 1 0.451 PhD-SNP: F[W]=100% F[G]=0% Nali=16 W131G Unclassified NA NA PANTHER: F[W]=NA F[G]=NA W131G Neutral 4 0.292 SNPs&GO W131R Disease 1 0.568 PhD-SNP: F[W]=100% F[R]=0% Nali=16 W131R Unclassified NA NA PANTHER: F[W]=NA F[R]=NA W131R Neutral 3 0.339 SNPs&GO E132Q Neutral 3 0.330 PhD-SNP: F[E]=94% F[Q]=0% Nali=16 E132Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E132Q Neutral 6 0.191 SNPs&GO P133T Neutral 9 0.061 PhD-SNP: F[P]=41% F[T]=0% Nali=16 P133T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P133T Neutral 9 0.032 SNPs&GO V135M Neutral 8 0.116 PhD-SNP: F[V]=41% F[M]=0% Nali=16 V135M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V135M Neutral 9 0.062 SNPs&GO L136P Disease 2 0.579 PhD-SNP: F[L]=71% F[P]=0% Nali=16 L136P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L136P Neutral 3 0.326 SNPs&GO L138P Disease 4 0.681 PhD-SNP: F[L]=100% F[P]=0% Nali=16 L138P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L138P Disease 1 0.539 SNPs&GO G139E Disease 5 0.769 PhD-SNP: F[G]=94% F[E]=0% Nali=16 G139E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G139E Disease 1 0.573 SNPs&GO L140Q Disease 4 0.682 PhD-SNP: F[L]=88% F[Q]=0% Nali=16 L140Q Unclassified NA NA PANTHER: F[L]=NA F[Q]=NA L140Q Neutral 1 0.431 SNPs&GO S141A Neutral 4 0.283 PhD-SNP: F[S]=71% F[A]=0% Nali=16 S141A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S141A Neutral 6 0.196 SNPs&GO S141F Neutral 1 0.462 PhD-SNP: F[S]=71% F[F]=0% Nali=16 S141F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S141F Neutral 5 0.237 SNPs&GO S141P Disease 3 0.664 PhD-SNP: F[S]=71% F[P]=0% Nali=16 S141P Unclassified NA NA PANTHER: F[S]=NA F[P]=NA S141P Neutral 2 0.416 SNPs&GO T143M Neutral 4 0.290 PhD-SNP: F[T]=47% F[M]=0% Nali=16 T143M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T143M Neutral 6 0.178 SNPs&GO D144A Disease 1 0.558 PhD-SNP: F[D]=82% F[A]=6% Nali=16 D144A Unclassified NA NA PANTHER: F[D]=NA F[A]=NA D144A Neutral 6 0.223 SNPs&GO D144E Neutral 0 0.476 PhD-SNP: F[D]=82% F[E]=6% Nali=16 D144E Unclassified NA NA PANTHER: F[D]=NA F[E]=NA D144E Neutral 5 0.240 SNPs&GO D144G Disease 4 0.700 PhD-SNP: F[D]=82% F[G]=0% Nali=16 D144G Unclassified NA NA PANTHER: F[D]=NA F[G]=NA D144G Neutral 3 0.366 SNPs&GO D144H Disease 3 0.671 PhD-SNP: F[D]=82% F[H]=0% Nali=16 D144H Unclassified NA NA PANTHER: F[D]=NA F[H]=NA D144H Neutral 5 0.229 SNPs&GO I145M Neutral 3 0.373 PhD-SNP: F[I]=59% F[M]=0% Nali=16 I145M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I145M Neutral 7 0.139 SNPs&GO I145T Disease 1 0.550 PhD-SNP: F[I]=59% F[T]=0% Nali=16 I145T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I145T Neutral 6 0.177 SNPs&GO Y146F Neutral 4 0.278 PhD-SNP: F[Y]=82% F[F]=12% Nali=16 Y146F Unclassified NA NA PANTHER: F[Y]=NA F[F]=NA Y146F Neutral 8 0.087 SNPs&GO R147C Disease 4 0.718 PhD-SNP: F[R]=82% F[C]=0% Nali=16 R147C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R147C Neutral 2 0.412 SNPs&GO R147H Disease 1 0.563 PhD-SNP: F[R]=82% F[H]=6% Nali=16 R147H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R147H Neutral 5 0.254 SNPs&GO R147L Disease 6 0.804 PhD-SNP: F[R]=82% F[L]=0% Nali=16 R147L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R147L Neutral 1 0.429 SNPs&GO C148R Disease 7 0.831 PhD-SNP: F[C]=82% F[R]=0% Nali=16 C148R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C148R Disease 2 0.620 SNPs&GO C148S Disease 5 0.752 PhD-SNP: F[C]=82% F[S]=0% Nali=16 C148S Unclassified NA NA PANTHER: F[C]=NA F[S]=NA C148S Disease 1 0.526 SNPs&GO K149N Disease 2 0.578 PhD-SNP: F[K]=82% F[N]=0% Nali=16 K149N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K149N Neutral 5 0.262 SNPs&GO N151K Neutral 1 0.469 PhD-SNP: F[N]=53% F[K]=0% Nali=16 N151K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N151K Neutral 5 0.259 SNPs&GO N151S Neutral 3 0.344 PhD-SNP: F[N]=53% F[S]=0% Nali=16 N151S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N151S Neutral 7 0.152 SNPs&GO H152Q Disease 5 0.732 PhD-SNP: F[H]=82% F[Q]=0% Nali=16 H152Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H152Q Neutral 1 0.425 SNPs&GO H152Y Disease 5 0.748 PhD-SNP: F[H]=82% F[Y]=0% Nali=16 H152Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H152Y Neutral 2 0.418 SNPs&GO P153H Disease 2 0.594 PhD-SNP: F[P]=76% F[H]=0% Nali=16 P153H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P153H Neutral 7 0.153 SNPs&GO P153L Disease 1 0.548 PhD-SNP: F[P]=76% F[L]=0% Nali=16 P153L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P153L Neutral 6 0.177 SNPs&GO P153R Neutral 2 0.407 PhD-SNP: F[P]=76% F[R]=12% Nali=16 P153R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P153R Neutral 7 0.131 SNPs&GO N155D Disease 2 0.599 PhD-SNP: F[N]=71% F[D]=0% Nali=16 N155D Unclassified NA NA PANTHER: F[N]=NA F[D]=NA N155D Neutral 2 0.417 SNPs&GO N155K Disease 3 0.674 PhD-SNP: F[N]=71% F[K]=0% Nali=16 N155K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N155K Neutral 1 0.431 SNPs&GO N155S Neutral 5 0.227 PhD-SNP: F[N]=71% F[S]=24% Nali=16 N155S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N155S Neutral 8 0.096 SNPs&GO V156G Disease 3 0.625 PhD-SNP: F[V]=65% F[G]=0% Nali=16 V156G Unclassified NA NA PANTHER: F[V]=NA F[G]=NA V156G Neutral 4 0.298 SNPs&GO V156M Neutral 4 0.319 PhD-SNP: F[V]=65% F[M]=0% Nali=16 V156M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V156M Neutral 8 0.112 SNPs&GO S158L Disease 2 0.595 PhD-SNP: F[S]=71% F[L]=0% Nali=16 S158L Unclassified NA NA PANTHER: F[S]=NA F[L]=NA S158L Neutral 5 0.238 SNPs&GO V161M Neutral 3 0.345 PhD-SNP: F[V]=65% F[M]=0% Nali=16 V161M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V161M Neutral 7 0.136 SNPs&GO A163P Disease 5 0.743 PhD-SNP: F[A]=59% F[P]=0% Nali=16 A163P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A163P Neutral 2 0.414 SNPs&GO A163V Neutral 1 0.458 PhD-SNP: F[A]=59% F[V]=0% Nali=16 A163V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A163V Neutral 6 0.214 SNPs&GO F164C Disease 4 0.725 PhD-SNP: F[F]=59% F[C]=0% Nali=16 F164C Unclassified NA NA PANTHER: F[F]=NA F[C]=NA F164C Neutral 3 0.362 SNPs&GO F164I Disease 2 0.610 PhD-SNP: F[F]=59% F[I]=0% Nali=16 F164I Unclassified NA NA PANTHER: F[F]=NA F[I]=NA F164I Neutral 2 0.391 SNPs&GO F164V Disease 4 0.721 PhD-SNP: F[F]=59% F[V]=0% Nali=16 F164V Unclassified NA NA PANTHER: F[F]=NA F[V]=NA F164V Neutral 1 0.455 SNPs&GO W167G Disease 6 0.786 PhD-SNP: F[W]=100% F[G]=0% Nali=16 W167G Unclassified NA NA PANTHER: F[W]=NA F[G]=NA W167G Disease 3 0.651 SNPs&GO W167R Disease 6 0.802 PhD-SNP: F[W]=100% F[R]=0% Nali=16 W167R Unclassified NA NA PANTHER: F[W]=NA F[R]=NA W167R Disease 3 0.631 SNPs&GO R168G Disease 2 0.593 PhD-SNP: F[R]=59% F[G]=0% Nali=16 R168G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R168G Disease 1 0.533 SNPs&GO R168L Disease 3 0.652 PhD-SNP: F[R]=59% F[L]=0% Nali=16 R168L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R168L Neutral 0 0.475 SNPs&GO R168P Disease 6 0.811 PhD-SNP: F[R]=59% F[P]=0% Nali=16 R168P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R168P Disease 4 0.719 SNPs&GO R168Q Neutral 1 0.467 PhD-SNP: F[R]=59% F[Q]=0% Nali=16 R168Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R168Q Neutral 4 0.312 SNPs&GO R168W Disease 3 0.672 PhD-SNP: F[R]=59% F[W]=0% Nali=16 R168W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R168W Disease 1 0.534 SNPs&GO R170C Neutral 2 0.383 PhD-SNP: F[R]=65% F[C]=12% Nali=16 R170C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R170C Neutral 5 0.272 SNPs&GO G172R Disease 6 0.787 PhD-SNP: F[G]=100% F[R]=0% Nali=16 G172R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G172R Disease 2 0.585 SNPs&GO A175T Disease 1 0.572 PhD-SNP: F[A]=100% F[T]=0% Nali=16 A175T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A175T Neutral 5 0.238 SNPs&GO T176A Disease 1 0.569 PhD-SNP: F[T]=100% F[A]=0% Nali=16 T176A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T176A Neutral 2 0.422 SNPs&GO T176I Disease 4 0.695 PhD-SNP: F[T]=100% F[I]=0% Nali=16 T176I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T176I Neutral 1 0.459 SNPs&GO T176N Disease 5 0.730 PhD-SNP: F[T]=100% F[N]=0% Nali=16 T176N Unclassified NA NA PANTHER: F[T]=NA F[N]=NA T176N Neutral 1 0.450 SNPs&GO G183R Neutral 2 0.393 PhD-SNP: F[G]=47% F[R]=0% Nali=16 G183R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G183R Neutral 7 0.160 SNPs&GO L184Q Disease 4 0.725 PhD-SNP: F[L]=94% F[Q]=0% Nali=16 L184Q Unclassified NA NA PANTHER: F[L]=NA F[Q]=NA L184Q Neutral 2 0.396 SNPs&GO R185W Neutral 7 0.175 PhD-SNP: F[R]=18% F[W]=0% Nali=16 R185W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R185W Neutral 8 0.118 SNPs&GO A186T Neutral 3 0.339 PhD-SNP: F[A]=71% F[T]=0% Nali=16 A186T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A186T Neutral 8 0.109 SNPs&GO V189G Disease 3 0.630 PhD-SNP: F[V]=76% F[G]=0% Nali=16 V189G Unclassified NA NA PANTHER: F[V]=NA F[G]=NA V189G Neutral 5 0.249 SNPs&GO D190V Disease 4 0.680 PhD-SNP: F[D]=88% F[V]=0% Nali=15 D190V Unclassified NA NA PANTHER: F[D]=NA F[V]=NA D190V Neutral 1 0.428 SNPs&GO S192L Disease 0 0.517 PhD-SNP: F[S]=93% F[L]=0% Nali=14 S192L Unclassified NA NA PANTHER: F[S]=NA F[L]=NA S192L Neutral 5 0.254 SNPs&GO S192W Disease 2 0.611 PhD-SNP: F[S]=93% F[W]=0% Nali=14 S192W Unclassified NA NA PANTHER: F[S]=NA F[W]=NA S192W Neutral 3 0.331 SNPs&GO M197K Neutral 6 0.193 PhD-SNP: F[M]=75% F[K]=0% Nali=11 M197K Unclassified NA NA PANTHER: F[M]=NA F[K]=NA M197K Neutral 8 0.097 SNPs&GO M197T Neutral 8 0.120 PhD-SNP: F[M]=75% F[T]=0% Nali=11 M197T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M197T Neutral 9 0.073 SNPs&GO L198W Neutral 8 0.107 PhD-SNP: F[L]=100% F[W]=0% Nali=11 L198W Unclassified NA NA PANTHER: F[L]=NA F[W]=NA L198W Neutral 8 0.082 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. ** ** ** **********************************************************************************************