********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: sp.seq Mutation Prediction RI Probability Method T2I Neutral 7 0.164 PhD-SNP: F[T]=41% F[I]=3% Nali=33 T2I Neutral 3 0.364 PANTHER: F[T]=48% F[I]=3% T2I Neutral 8 0.101 SNPs&GO T2N Neutral 7 0.161 PhD-SNP: F[T]=41% F[N]=0% Nali=33 T2N Neutral 2 0.411 PANTHER: F[T]=48% F[N]=2% T2N Neutral 8 0.113 SNPs&GO L4V Neutral 3 0.340 PhD-SNP: F[L]=98% F[V]=0% Nali=45 L4V Neutral 5 0.263 PANTHER: F[L]=58% F[V]=6% L4V Neutral 7 0.128 SNPs&GO F5L Neutral 2 0.405 PhD-SNP: F[F]=52% F[L]=2% Nali=47 F5L Neutral 5 0.235 PANTHER: F[F]=56% F[L]=7% F5L Neutral 5 0.231 SNPs&GO L6I Neutral 5 0.262 PhD-SNP: F[L]=25% F[I]=0% Nali=47 L6I Neutral 7 0.133 PANTHER: F[L]=39% F[I]=12% L6I Neutral 9 0.045 SNPs&GO T7A Neutral 2 0.422 PhD-SNP: F[T]=94% F[A]=4% Nali=47 T7A Neutral 5 0.233 PANTHER: F[T]=50% F[A]=7% T7A Neutral 6 0.209 SNPs&GO S11L Disease 5 0.732 PhD-SNP: F[S]=35% F[L]=0% Nali=50 S11L Neutral 1 0.455 PANTHER: F[S]=51% F[L]=2% S11L Neutral 0 0.491 SNPs&GO Y12C Disease 3 0.674 PhD-SNP: F[Y]=37% F[C]=0% Nali=50 Y12C Disease 6 0.795 PANTHER: F[Y]=61% F[C]=0% Y12C Disease 1 0.551 SNPs&GO F13C Disease 3 0.671 PhD-SNP: F[F]=33% F[C]=2% Nali=50 F13C Disease 6 0.776 PANTHER: F[F]=59% F[C]=0% F13C Disease 1 0.547 SNPs&GO K17E Disease 0 0.508 PhD-SNP: F[K]=27% F[E]=0% Nali=51 K17E Neutral 5 0.269 PANTHER: F[K]=38% F[E]=4% K17E Neutral 6 0.192 SNPs&GO A19V Disease 4 0.697 PhD-SNP: F[A]=79% F[V]=0% Nali=51 A19V Neutral 2 0.398 PANTHER: F[A]=57% F[V]=3% A19V Neutral 3 0.355 SNPs&GO P20S Disease 4 0.696 PhD-SNP: F[P]=98% F[S]=0% Nali=50 P20S Disease 0 0.506 PANTHER: F[P]=71% F[S]=2% P20S Disease 0 0.512 SNPs&GO E23D Neutral 4 0.295 PhD-SNP: F[E]=79% F[D]=12% Nali=51 E23D Neutral 4 0.288 PANTHER: F[E]=57% F[D]=6% E23D Neutral 7 0.134 SNPs&GO E23K Disease 4 0.716 PhD-SNP: F[E]=79% F[K]=2% Nali=51 E23K Neutral 2 0.377 PANTHER: F[E]=57% F[K]=4% E23K Neutral 1 0.471 SNPs&GO A24T Neutral 6 0.219 PhD-SNP: F[A]=27% F[T]=2% Nali=50 A24T Neutral 6 0.205 PANTHER: F[A]=22% F[T]=4% A24T Neutral 9 0.059 SNPs&GO R27Q Disease 0 0.525 PhD-SNP: F[R]=77% F[Q]=0% Nali=21 R27Q Neutral 7 0.158 PANTHER: F[R]=19% F[Q]=5% R27Q Neutral 8 0.124 SNPs&GO Q29R Neutral 3 0.358 PhD-SNP: F[Q]=32% F[R]=0% Nali=33 Q29R Neutral 7 0.169 PANTHER: F[Q]=22% F[R]=5% Q29R Neutral 7 0.140 SNPs&GO G31D Disease 2 0.602 PhD-SNP: F[G]=31% F[D]=2% Nali=50 G31D Neutral 9 0.071 PANTHER: F[G]=7% F[D]=5% G31D Neutral 7 0.167 SNPs&GO G31V Disease 0 0.517 PhD-SNP: F[G]=31% F[V]=0% Nali=50 G31V Neutral 8 0.117 PANTHER: F[G]=7% F[V]=3% G31V Neutral 7 0.141 SNPs&GO A33V Neutral 2 0.404 PhD-SNP: F[A]=39% F[V]=0% Nali=50 A33V Neutral 3 0.329 PANTHER: F[A]=48% F[V]=4% A33V Neutral 5 0.242 SNPs&GO G36A Neutral 8 0.094 PhD-SNP: F[G]=31% F[A]=33% Nali=48 G36A Neutral 7 0.148 PANTHER: F[G]=45% F[A]=13% G36A Neutral 9 0.053 SNPs&GO G36D Neutral 0 0.497 PhD-SNP: F[G]=31% F[D]=4% Nali=48 G36D Neutral 2 0.417 PANTHER: F[G]=45% F[D]=2% G36D Neutral 3 0.368 SNPs&GO V37M Neutral 7 0.132 PhD-SNP: F[V]=15% F[M]=2% Nali=45 V37M Neutral 3 0.326 PANTHER: F[V]=32% F[M]=2% V37M Neutral 8 0.076 SNPs&GO R38Q Disease 2 0.579 PhD-SNP: F[R]=55% F[Q]=2% Nali=43 R38Q Neutral 5 0.247 PANTHER: F[R]=31% F[Q]=4% R38Q Neutral 5 0.255 SNPs&GO R38W Disease 4 0.712 PhD-SNP: F[R]=55% F[W]=0% Nali=43 R38W Disease 5 0.747 PANTHER: F[R]=31% F[W]=0% R38W Neutral 1 0.434 SNPs&GO H40Y Disease 1 0.564 PhD-SNP: F[H]=53% F[Y]=0% Nali=46 H40Y Neutral 3 0.373 PANTHER: F[H]=26% F[Y]=1% H40Y Neutral 5 0.272 SNPs&GO G41R Neutral 0 0.496 PhD-SNP: F[G]=46% F[R]=4% Nali=49 G41R Neutral 1 0.446 PANTHER: F[G]=38% F[R]=1% G41R Neutral 3 0.334 SNPs&GO L43P Disease 3 0.659 PhD-SNP: F[L]=41% F[P]=9% Nali=45 L43P Disease 1 0.536 PANTHER: F[L]=36% F[P]=1% L43P Neutral 1 0.459 SNPs&GO E44K Neutral 4 0.304 PhD-SNP: F[E]=30% F[K]=2% Nali=46 E44K Neutral 6 0.201 PANTHER: F[E]=31% F[K]=6% E44K Neutral 7 0.145 SNPs&GO S45R Neutral 5 0.273 PhD-SNP: F[S]=43% F[R]=4% Nali=48 S45R Neutral 3 0.365 PANTHER: F[S]=33% F[R]=2% S45R Neutral 7 0.155 SNPs&GO V46M Neutral 8 0.100 PhD-SNP: F[V]=15% F[M]=0% Nali=45 V46M Neutral 6 0.225 PANTHER: F[V]=29% F[M]=4% V46M Neutral 9 0.040 SNPs&GO G48R Neutral 2 0.395 PhD-SNP: F[G]=48% F[R]=0% Nali=43 G48R Disease 4 0.684 PANTHER: F[G]=73% F[R]=1% G48R Neutral 3 0.358 SNPs&GO P49R Neutral 3 0.335 PhD-SNP: F[P]=62% F[R]=0% Nali=44 P49R Neutral 3 0.355 PANTHER: F[P]=32% F[R]=2% P49R Neutral 7 0.142 SNPs&GO A51P Neutral 1 0.432 PhD-SNP: F[A]=34% F[P]=2% Nali=43 A51P Neutral 2 0.398 PANTHER: F[A]=32% F[P]=2% A51P Neutral 7 0.161 SNPs&GO A51S Neutral 9 0.071 PhD-SNP: F[A]=34% F[S]=18% Nali=43 A51S Neutral 7 0.138 PANTHER: F[A]=32% F[S]=10% A51S Neutral 9 0.029 SNPs&GO A51T Neutral 9 0.055 PhD-SNP: F[A]=34% F[T]=18% Nali=43 A51T Neutral 6 0.212 PANTHER: F[A]=32% F[T]=5% A51T Neutral 10 0.024 SNPs&GO A51V Neutral 8 0.121 PhD-SNP: F[A]=34% F[V]=2% Nali=43 A51V Neutral 6 0.205 PANTHER: F[A]=32% F[V]=6% A51V Neutral 9 0.033 SNPs&GO G52D Neutral 3 0.350 PhD-SNP: F[G]=35% F[D]=0% Nali=39 G52D Neutral 5 0.250 PANTHER: F[G]=33% F[D]=4% G52D Neutral 7 0.130 SNPs&GO G52S Neutral 8 0.079 PhD-SNP: F[G]=35% F[S]=15% Nali=39 G52S Neutral 5 0.233 PANTHER: F[G]=33% F[S]=5% G52S Neutral 9 0.039 SNPs&GO G52V Neutral 6 0.176 PhD-SNP: F[G]=35% F[V]=3% Nali=39 G52V Neutral 3 0.356 PANTHER: F[G]=33% F[V]=2% G52V Neutral 8 0.087 SNPs&GO S53L Neutral 7 0.168 PhD-SNP: F[S]=31% F[L]=0% Nali=50 S53L Neutral 1 0.432 PANTHER: F[S]=39% F[L]=2% S53L Neutral 8 0.118 SNPs&GO R54G Neutral 2 0.400 PhD-SNP: F[R]=51% F[G]=0% Nali=48 R54G Neutral 3 0.334 PANTHER: F[R]=31% F[G]=2% R54G Neutral 7 0.132 SNPs&GO R54K Neutral 6 0.185 PhD-SNP: F[R]=51% F[K]=6% Nali=48 R54K Neutral 7 0.139 PANTHER: F[R]=31% F[K]=9% R54K Neutral 9 0.057 SNPs&GO G55D Neutral 1 0.454 PhD-SNP: F[G]=42% F[D]=2% Nali=51 G55D Neutral 5 0.249 PANTHER: F[G]=28% F[D]=4% G55D Neutral 7 0.171 SNPs&GO G55S Neutral 7 0.151 PhD-SNP: F[G]=42% F[S]=12% Nali=51 G55S Neutral 6 0.178 PANTHER: F[G]=28% F[S]=6% G55S Neutral 9 0.055 SNPs&GO T57I Neutral 6 0.216 PhD-SNP: F[T]=25% F[I]=0% Nali=52 T57I Neutral 2 0.392 PANTHER: F[T]=31% F[I]=2% T57I Neutral 8 0.114 SNPs&GO S58P Disease 3 0.640 PhD-SNP: F[S]=38% F[P]=0% Nali=54 S58P Neutral 2 0.418 PANTHER: F[S]=30% F[P]=1% S58P Neutral 2 0.380 SNPs&GO T62A Neutral 4 0.286 PhD-SNP: F[T]=58% F[A]=6% Nali=47 T62A Neutral 6 0.178 PANTHER: F[T]=26% F[A]=6% T62A Neutral 8 0.089 SNPs&GO E64K Neutral 3 0.357 PhD-SNP: F[E]=43% F[K]=2% Nali=48 E64K Neutral 4 0.289 PANTHER: F[E]=44% F[K]=4% E64K Neutral 6 0.206 SNPs&GO V66M Neutral 7 0.139 PhD-SNP: F[V]=40% F[M]=2% Nali=54 V66M Neutral 2 0.400 PANTHER: F[V]=37% F[M]=2% V66M Neutral 9 0.049 SNPs&GO I67L Neutral 8 0.123 PhD-SNP: F[I]=34% F[L]=7% Nali=55 I67L Neutral 7 0.134 PANTHER: F[I]=28% F[L]=9% I67L Neutral 9 0.037 SNPs&GO I67M Neutral 8 0.114 PhD-SNP: F[I]=34% F[M]=2% Nali=55 I67M Neutral 4 0.306 PANTHER: F[I]=28% F[M]=2% I67M Neutral 9 0.044 SNPs&GO L70Q Neutral 2 0.379 PhD-SNP: F[L]=32% F[Q]=2% Nali=55 L70Q Neutral 2 0.396 PANTHER: F[L]=35% F[Q]=2% L70Q Neutral 7 0.130 SNPs&GO D72E Neutral 8 0.085 PhD-SNP: F[D]=31% F[E]=12% Nali=51 D72E Neutral 8 0.118 PANTHER: F[D]=33% F[E]=13% D72E Neutral 10 0.020 SNPs&GO D72N Neutral 8 0.124 PhD-SNP: F[D]=31% F[N]=2% Nali=51 D72N Neutral 6 0.213 PANTHER: F[D]=33% F[N]=5% D72N Neutral 9 0.038 SNPs&GO D74G Neutral 5 0.263 PhD-SNP: F[D]=36% F[G]=2% Nali=54 D74G Neutral 4 0.290 PANTHER: F[D]=42% F[G]=4% D74G Neutral 9 0.071 SNPs&GO Q75E Neutral 7 0.168 PhD-SNP: F[Q]=42% F[E]=4% Nali=56 Q75E Neutral 3 0.329 PANTHER: F[Q]=52% F[E]=4% Q75E Neutral 8 0.090 SNPs&GO Q75H Neutral 7 0.166 PhD-SNP: F[Q]=42% F[H]=4% Nali=56 Q75H Disease 2 0.577 PANTHER: F[Q]=52% F[H]=1% Q75H Neutral 8 0.084 SNPs&GO K76E Neutral 8 0.075 PhD-SNP: F[K]=21% F[E]=18% Nali=56 K76E Neutral 8 0.116 PANTHER: F[K]=22% F[E]=9% K76E Neutral 10 0.020 SNPs&GO K76Q Neutral 8 0.079 PhD-SNP: F[K]=21% F[Q]=5% Nali=56 K76Q Neutral 7 0.166 PANTHER: F[K]=22% F[Q]=5% K76Q Neutral 10 0.015 SNPs&GO R78Q Neutral 8 0.099 PhD-SNP: F[R]=32% F[Q]=7% Nali=56 R78Q Neutral 7 0.159 PANTHER: F[R]=27% F[Q]=7% R78Q Neutral 10 0.025 SNPs&GO R78W Neutral 7 0.164 PhD-SNP: F[R]=32% F[W]=0% Nali=56 R78W Disease 4 0.719 PANTHER: F[R]=27% F[W]=0% R78W Neutral 9 0.057 SNPs&GO P79S Neutral 9 0.057 PhD-SNP: F[P]=37% F[S]=12% Nali=48 P79S Neutral 7 0.145 PANTHER: F[P]=18% F[S]=5% P79S Neutral 10 0.016 SNPs&GO N80D Neutral 9 0.026 PhD-SNP: F[N]=18% F[D]=33% Nali=48 N80D Neutral 9 0.066 PANTHER: F[N]=21% F[D]=17% N80D Neutral 10 0.004 SNPs&GO N80I Neutral 9 0.069 PhD-SNP: F[N]=18% F[I]=2% Nali=48 N80I Neutral 2 0.407 PANTHER: F[N]=21% F[I]=1% N80I Neutral 10 0.023 SNPs&GO N80S Neutral 9 0.033 PhD-SNP: F[N]=18% F[S]=14% Nali=48 N80S Neutral 8 0.093 PANTHER: F[N]=21% F[S]=11% N80S Neutral 10 0.007 SNPs&GO N84D Neutral 8 0.088 PhD-SNP: F[N]=11% F[D]=4% Nali=46 N84D Neutral 8 0.093 PANTHER: F[N]=12% F[D]=6% N84D Neutral 10 0.019 SNPs&GO K85M Neutral 1 0.438 PhD-SNP: F[K]=73% F[M]=2% Nali=50 K85M Disease 4 0.700 PANTHER: F[K]=55% F[M]=0% K85M Neutral 5 0.229 SNPs&GO D86E Disease 1 0.550 PhD-SNP: F[D]=62% F[E]=0% Nali=49 D86E Neutral 4 0.293 PANTHER: F[D]=62% F[E]=6% D86E Neutral 6 0.188 SNPs&GO A87G Neutral 6 0.222 PhD-SNP: F[A]=24% F[G]=0% Nali=50 A87G Neutral 4 0.277 PANTHER: F[A]=32% F[G]=3% A87G Neutral 9 0.068 SNPs&GO A87P Neutral 5 0.228 PhD-SNP: F[A]=24% F[P]=20% Nali=50 A87P Neutral 2 0.415 PANTHER: F[A]=32% F[P]=1% A87P Neutral 8 0.099 SNPs&GO A87T Neutral 7 0.135 PhD-SNP: F[A]=24% F[T]=6% Nali=50 A87T Neutral 6 0.216 PANTHER: F[A]=32% F[T]=5% A87T Neutral 9 0.046 SNPs&GO D88E Neutral 4 0.314 PhD-SNP: F[D]=46% F[E]=0% Nali=55 D88E Neutral 4 0.293 PANTHER: F[D]=62% F[E]=6% D88E Neutral 8 0.096 SNPs&GO D88G Neutral 0 0.475 PhD-SNP: F[D]=46% F[G]=0% Nali=55 D88G Neutral 0 0.477 PANTHER: F[D]=62% F[G]=2% D88G Neutral 5 0.228 SNPs&GO L89S Disease 2 0.612 PhD-SNP: F[L]=61% F[S]=0% Nali=71 L89S Disease 2 0.586 PANTHER: F[L]=52% F[S]=1% L89S Neutral 1 0.446 SNPs&GO Y90H Neutral 5 0.259 PhD-SNP: F[Y]=39% F[H]=4% Nali=82 Y90H Disease 1 0.544 PANTHER: F[Y]=61% F[H]=2% Y90H Neutral 7 0.157 SNPs&GO T91K Neutral 2 0.418 PhD-SNP: F[T]=10% F[K]=0% Nali=98 T91K Neutral 4 0.306 PANTHER: F[T]=31% F[K]=3% T91K Neutral 7 0.174 SNPs&GO T91M Neutral 5 0.252 PhD-SNP: F[T]=10% F[M]=0% Nali=98 T91M Neutral 0 0.489 PANTHER: F[T]=31% F[M]=1% T91M Neutral 7 0.138 SNPs&GO V94L Disease 0 0.508 PhD-SNP: F[V]=90% F[L]=0% Nali=104 V94L Disease 6 0.814 PANTHER: F[V]=83% F[L]=2% V94L Disease 1 0.561 SNPs&GO V94M Disease 0 0.502 PhD-SNP: F[V]=90% F[M]=0% Nali=104 V94M Disease 9 0.935 PANTHER: F[V]=83% F[M]=0% V94M Disease 1 0.551 SNPs&GO M95T Neutral 5 0.249 PhD-SNP: F[M]=16% F[T]=1% Nali=104 M95T Neutral 1 0.436 PANTHER: F[M]=46% F[T]=2% M95T Neutral 6 0.210 SNPs&GO S98N Neutral 8 0.124 PhD-SNP: F[S]=15% F[N]=5% Nali=104 S98N Neutral 8 0.120 PANTHER: F[S]=31% F[N]=12% S98N Neutral 9 0.027 SNPs&GO Q99K Neutral 2 0.408 PhD-SNP: F[Q]=53% F[K]=0% Nali=101 Q99K Neutral 4 0.289 PANTHER: F[Q]=52% F[K]=5% Q99K Neutral 6 0.183 SNPs&GO V100L Neutral 8 0.112 PhD-SNP: F[V]=39% F[L]=4% Nali=68 V100L Neutral 5 0.238 PANTHER: F[V]=53% F[L]=8% V100L Neutral 9 0.048 SNPs&GO V100M Neutral 8 0.112 PhD-SNP: F[V]=39% F[M]=0% Nali=68 V100M Neutral 0 0.497 PANTHER: F[V]=53% F[M]=2% V100M Neutral 9 0.070 SNPs&GO L107F Neutral 3 0.349 PhD-SNP: F[L]=65% F[F]=1% Nali=101 L107F Neutral 2 0.422 PANTHER: F[L]=60% F[F]=3% L107F Neutral 8 0.097 SNPs&GO F108Y Neutral 7 0.134 PhD-SNP: F[F]=25% F[Y]=25% Nali=99 F108Y Neutral 5 0.270 PANTHER: F[F]=59% F[Y]=7% F108Y Neutral 9 0.048 SNPs&GO E111K Disease 3 0.649 PhD-SNP: F[E]=59% F[K]=0% Nali=102 E111K Neutral 2 0.377 PANTHER: F[E]=57% F[K]=4% E111K Neutral 3 0.329 SNPs&GO E111Q Neutral 3 0.346 PhD-SNP: F[E]=59% F[Q]=8% Nali=102 E111Q Neutral 1 0.437 PANTHER: F[E]=57% F[Q]=3% E111Q Neutral 7 0.157 SNPs&GO Y113F Neutral 6 0.194 PhD-SNP: F[Y]=41% F[F]=11% Nali=103 Y113F Neutral 5 0.245 PANTHER: F[Y]=61% F[F]=8% Y113F Neutral 9 0.042 SNPs&GO D118H Neutral 1 0.428 PhD-SNP: F[D]=44% F[H]=0% Nali=105 D118H Disease 3 0.641 PANTHER: F[D]=61% F[H]=1% D118H Neutral 7 0.161 SNPs&GO A120T Neutral 2 0.376 PhD-SNP: F[A]=47% F[T]=4% Nali=105 A120T Neutral 3 0.352 PANTHER: F[A]=56% F[T]=4% A120T Neutral 7 0.152 SNPs&GO M122I Neutral 2 0.383 PhD-SNP: F[M]=16% F[I]=0% Nali=106 M122I Neutral 5 0.235 PANTHER: F[M]=45% F[I]=6% M122I Neutral 7 0.166 SNPs&GO M122T Neutral 2 0.381 PhD-SNP: F[M]=16% F[T]=2% Nali=106 M122T Neutral 1 0.426 PANTHER: F[M]=45% F[T]=2% M122T Neutral 4 0.278 SNPs&GO M124L Neutral 5 0.229 PhD-SNP: F[M]=16% F[L]=2% Nali=106 M124L Neutral 8 0.098 PANTHER: F[M]=34% F[L]=16% M124L Neutral 9 0.052 SNPs&GO M124V Neutral 5 0.259 PhD-SNP: F[M]=16% F[V]=1% Nali=106 M124V Neutral 7 0.138 PANTHER: F[M]=34% F[V]=10% M124V Neutral 9 0.074 SNPs&GO R125M Disease 4 0.724 PhD-SNP: F[R]=95% F[M]=0% Nali=109 R125M Disease 9 0.931 PANTHER: F[R]=80% F[M]=0% R125M Disease 3 0.641 SNPs&GO R127L Disease 2 0.593 PhD-SNP: F[R]=33% F[L]=0% Nali=110 R127L Disease 0 0.511 PANTHER: F[R]=60% F[L]=2% R127L Neutral 3 0.351 SNPs&GO R127Q Neutral 1 0.446 PhD-SNP: F[R]=33% F[Q]=0% Nali=110 R127Q Neutral 1 0.429 PANTHER: F[R]=60% F[Q]=3% R127Q Neutral 6 0.194 SNPs&GO H129P Disease 0 0.510 PhD-SNP: F[H]=19% F[P]=0% Nali=111 H129P Disease 3 0.664 PANTHER: F[H]=60% F[P]=1% H129P Neutral 0 0.492 SNPs&GO D131A Neutral 4 0.282 PhD-SNP: F[D]=20% F[A]=3% Nali=111 D131A Neutral 1 0.465 PANTHER: F[D]=62% F[A]=3% D131A Neutral 7 0.130 SNPs&GO E137D Disease 1 0.567 PhD-SNP: F[E]=95% F[D]=0% Nali=115 E137D Disease 5 0.739 PANTHER: F[E]=84% F[D]=2% E137D Disease 1 0.539 SNPs&GO E137K Disease 3 0.673 PhD-SNP: F[E]=95% F[K]=0% Nali=115 E137K Disease 7 0.847 PANTHER: F[E]=84% F[K]=1% E137K Disease 4 0.718 SNPs&GO L138M Neutral 6 0.213 PhD-SNP: F[L]=23% F[M]=0% Nali=115 L138M Neutral 2 0.411 PANTHER: F[L]=61% F[M]=3% L138M Neutral 9 0.069 SNPs&GO V140M Disease 2 0.601 PhD-SNP: F[V]=97% F[M]=0% Nali=115 V140M Disease 0 0.501 PANTHER: F[V]=53% F[M]=2% V140M Neutral 3 0.349 SNPs&GO I144T Neutral 3 0.330 PhD-SNP: F[I]=25% F[T]=4% Nali=120 I144T Neutral 4 0.279 PANTHER: F[I]=43% F[T]=5% I144T Neutral 7 0.126 SNPs&GO E146K Neutral 7 0.160 PhD-SNP: F[E]=12% F[K]=0% Nali=120 E146K Neutral 6 0.183 PANTHER: F[E]=32% F[K]=7% E146K Neutral 8 0.085 SNPs&GO W147R Disease 6 0.815 PhD-SNP: F[W]=100% F[R]=0% Nali=120 W147R Disease 10 0.980 PANTHER: F[W]=95% F[R]=0% W147R Disease 6 0.823 SNPs&GO T149M Disease 2 0.609 PhD-SNP: F[T]=92% F[M]=0% Nali=60 T149M Disease 9 0.943 PANTHER: F[T]=81% F[M]=0% T149M Disease 4 0.691 SNPs&GO A150V Disease 2 0.585 PhD-SNP: F[A]=90% F[V]=0% Nali=20 A150V Neutral 2 0.403 PANTHER: F[A]=57% F[V]=3% A150V Neutral 4 0.303 SNPs&GO A151G Neutral 8 0.099 PhD-SNP: F[A]=40% F[G]=51% Nali=76 A151G Neutral 4 0.320 PANTHER: F[A]=34% F[G]=3% A151G Neutral 9 0.061 SNPs&GO A151T Neutral 4 0.309 PhD-SNP: F[A]=40% F[T]=1% Nali=76 A151T Neutral 5 0.248 PANTHER: F[A]=34% F[T]=4% A151T Neutral 8 0.122 SNPs&GO T155S Neutral 6 0.178 PhD-SNP: F[T]=63% F[S]=21% Nali=118 T155S Neutral 5 0.237 PANTHER: F[T]=37% F[S]=5% T155S Neutral 8 0.097 SNPs&GO V157A Neutral 5 0.234 PhD-SNP: F[V]=23% F[A]=0% Nali=119 V157A Neutral 3 0.325 PANTHER: F[V]=42% F[A]=3% V157A Neutral 7 0.130 SNPs&GO S160L Neutral 6 0.218 PhD-SNP: F[S]=20% F[L]=1% Nali=119 S160L Neutral 0 0.488 PANTHER: F[S]=53% F[L]=2% S160L Neutral 5 0.231 SNPs&GO T163M Neutral 6 0.214 PhD-SNP: F[T]=18% F[M]=1% Nali=120 T163M Disease 3 0.627 PANTHER: F[T]=52% F[M]=1% T163M Neutral 5 0.252 SNPs&GO T165I Disease 1 0.570 PhD-SNP: F[T]=83% F[I]=0% Nali=120 T165I Neutral 1 0.432 PANTHER: F[T]=52% F[I]=2% T165I Neutral 5 0.269 SNPs&GO L167F Neutral 1 0.452 PhD-SNP: F[L]=78% F[F]=0% Nali=120 L167F Neutral 2 0.411 PANTHER: F[L]=60% F[F]=3% L167F Neutral 7 0.144 SNPs&GO V170F Disease 0 0.521 PhD-SNP: F[V]=71% F[F]=2% Nali=120 V170F Disease 0 0.502 PANTHER: F[V]=52% F[F]=2% V170F Neutral 5 0.246 SNPs&GO V170I Neutral 9 0.044 PhD-SNP: F[V]=71% F[I]=25% Nali=120 V170I Neutral 7 0.174 PANTHER: F[V]=52% F[I]=12% V170I Neutral 10 0.016 SNPs&GO P171L Neutral 7 0.160 PhD-SNP: F[P]=22% F[L]=0% Nali=106 P171L Disease 2 0.615 PANTHER: F[P]=70% F[L]=1% P171L Neutral 6 0.198 SNPs&GO V172I Neutral 10 0.022 PhD-SNP: F[V]=22% F[I]=34% Nali=106 V172I Neutral 7 0.174 PANTHER: F[V]=52% F[I]=12% V172I Neutral 10 0.009 SNPs&GO V172L Neutral 8 0.099 PhD-SNP: F[V]=22% F[L]=17% Nali=106 V172L Neutral 5 0.229 PANTHER: F[V]=52% F[L]=8% V172L Neutral 9 0.058 SNPs&GO Q179K Disease 6 0.780 PhD-SNP: F[Q]=100% F[K]=0% Nali=106 Q179K Disease 8 0.918 PANTHER: F[Q]=91% F[K]=1% Q179K Disease 5 0.768 SNPs&GO C186Y Disease 8 0.909 PhD-SNP: F[C]=99% F[Y]=0% Nali=106 C186Y Disease 5 0.729 PANTHER: F[C]=66% F[Y]=0% C186Y Disease 5 0.761 SNPs&GO N187S Neutral 7 0.157 PhD-SNP: F[N]=22% F[S]=4% Nali=105 N187S Neutral 3 0.355 PANTHER: F[N]=54% F[S]=4% N187S Neutral 8 0.102 SNPs&GO M189L Neutral 4 0.278 PhD-SNP: F[M]=13% F[L]=3% Nali=106 M189L Neutral 9 0.056 PANTHER: F[M]=21% F[L]=20% M189L Neutral 9 0.049 SNPs&GO G190D Disease 0 0.501 PhD-SNP: F[G]=26% F[D]=1% Nali=106 G190D Disease 2 0.594 PANTHER: F[G]=72% F[D]=1% G190D Neutral 3 0.347 SNPs&GO G190V Neutral 2 0.406 PhD-SNP: F[G]=26% F[V]=0% Nali=106 G190V Disease 3 0.640 PANTHER: F[G]=72% F[V]=1% G190V Neutral 3 0.331 SNPs&GO T192K Neutral 2 0.376 PhD-SNP: F[T]=16% F[K]=1% Nali=105 T192K Neutral 5 0.263 PANTHER: F[T]=31% F[K]=4% T192K Neutral 7 0.168 SNPs&GO K193T Neutral 5 0.249 PhD-SNP: F[K]=29% F[T]=1% Nali=106 K193T Neutral 1 0.456 PANTHER: F[K]=54% F[T]=2% K193T Neutral 7 0.149 SNPs&GO G195D Disease 8 0.886 PhD-SNP: F[G]=93% F[D]=0% Nali=106 G195D Disease 2 0.594 PANTHER: F[G]=72% F[D]=1% G195D Disease 4 0.723 SNPs&GO G198D Disease 8 0.884 PhD-SNP: F[G]=99% F[D]=0% Nali=105 G198D Disease 9 0.970 PANTHER: F[G]=95% F[D]=0% G198D Disease 7 0.849 SNPs&GO I199T Disease 8 0.886 PhD-SNP: F[I]=88% F[T]=1% Nali=105 I199T Neutral 2 0.410 PANTHER: F[I]=48% F[T]=2% I199T Disease 3 0.667 SNPs&GO D200E Disease 5 0.755 PhD-SNP: F[D]=96% F[E]=1% Nali=105 D200E Neutral 7 0.155 PANTHER: F[D]=46% F[E]=11% D200E Neutral 5 0.253 SNPs&GO H203Y Disease 3 0.636 PhD-SNP: F[H]=83% F[Y]=5% Nali=106 H203Y Neutral 8 0.121 PANTHER: F[H]=33% F[Y]=12% H203Y Neutral 8 0.107 SNPs&GO R209L Neutral 0 0.493 PhD-SNP: F[R]=19% F[L]=1% Nali=90 R209L Neutral 0 0.490 PANTHER: F[R]=58% F[L]=2% R209L Neutral 1 0.430 SNPs&GO R209Q Neutral 3 0.342 PhD-SNP: F[R]=19% F[Q]=0% Nali=90 R209Q Neutral 2 0.410 PANTHER: F[R]=58% F[Q]=3% R209Q Neutral 5 0.252 SNPs&GO T210P Disease 5 0.766 PhD-SNP: F[T]=74% F[P]=0% Nali=90 T210P Disease 1 0.530 PANTHER: F[T]=51% F[P]=1% T210P Neutral 1 0.439 SNPs&GO V215A Neutral 2 0.408 PhD-SNP: F[V]=96% F[A]=1% Nali=90 V215A Neutral 3 0.329 PANTHER: F[V]=52% F[A]=4% V215A Neutral 7 0.137 SNPs&GO V215M Disease 1 0.555 PhD-SNP: F[V]=96% F[M]=0% Nali=90 V215M Neutral 1 0.470 PANTHER: F[V]=52% F[M]=2% V215M Neutral 6 0.204 SNPs&GO L218F Disease 1 0.537 PhD-SNP: F[L]=96% F[F]=1% Nali=90 L218F Neutral 6 0.209 PANTHER: F[L]=50% F[F]=8% L218F Neutral 8 0.095 SNPs&GO M220I Neutral 2 0.394 PhD-SNP: F[M]=60% F[I]=3% Nali=79 M220I Neutral 6 0.221 PANTHER: F[M]=44% F[I]=7% M220I Neutral 7 0.159 SNPs&GO M220T Neutral 3 0.330 PhD-SNP: F[M]=60% F[T]=13% Nali=79 M220T Neutral 2 0.405 PANTHER: F[M]=44% F[T]=2% M220T Neutral 5 0.244 SNPs&GO M220V Neutral 0 0.476 PhD-SNP: F[M]=60% F[V]=1% Nali=79 M220V Neutral 5 0.228 PANTHER: F[M]=44% F[V]=6% M220V Neutral 6 0.192 SNPs&GO S222G Neutral 7 0.140 PhD-SNP: F[S]=20% F[G]=36% Nali=87 S222G Neutral 4 0.294 PANTHER: F[S]=41% F[G]=4% S222G Neutral 8 0.102 SNPs&GO K224E Disease 1 0.538 PhD-SNP: F[K]=32% F[E]=4% Nali=89 K224E Neutral 5 0.247 PANTHER: F[K]=36% F[E]=4% K224E Neutral 5 0.265 SNPs&GO I231V Disease 4 0.711 PhD-SNP: F[I]=99% F[V]=1% Nali=85 I231V Disease 3 0.664 PANTHER: F[I]=82% F[V]=6% I231V Disease 3 0.651 SNPs&GO D234N Disease 3 0.643 PhD-SNP: F[D]=81% F[N]=15% Nali=85 D234N Neutral 2 0.380 PANTHER: F[D]=60% F[N]=4% D234N Neutral 3 0.344 SNPs&GO L241V Neutral 2 0.387 PhD-SNP: F[L]=88% F[V]=4% Nali=83 L241V Disease 7 0.852 PANTHER: F[L]=87% F[V]=1% L241V Neutral 0 0.482 SNPs&GO I243F Neutral 5 0.271 PhD-SNP: F[I]=18% F[F]=0% Nali=73 I243F Neutral 2 0.418 PANTHER: F[I]=48% F[F]=2% I243F Neutral 7 0.153 SNPs&GO I243L Neutral 7 0.152 PhD-SNP: F[I]=18% F[L]=1% Nali=73 I243L Neutral 7 0.162 PANTHER: F[I]=48% F[L]=11% I243L Neutral 9 0.049 SNPs&GO I243V Neutral 8 0.104 PhD-SNP: F[I]=18% F[V]=0% Nali=73 I243V Neutral 7 0.134 PANTHER: F[I]=48% F[V]=14% I243V Neutral 10 0.024 SNPs&GO K244T Neutral 3 0.335 PhD-SNP: F[K]=88% F[T]=0% Nali=74 K244T Neutral 2 0.424 PANTHER: F[K]=53% F[T]=2% K244T Neutral 7 0.148 SNPs&GO R245G Neutral 8 0.118 PhD-SNP: F[R]=20% F[G]=0% Nali=60 R245G Disease 0 0.502 PANTHER: F[R]=57% F[G]=2% R245G Neutral 7 0.136 SNPs&GO R245K Neutral 9 0.040 PhD-SNP: F[R]=20% F[K]=2% Nali=60 R245K Neutral 5 0.226 PANTHER: F[R]=57% F[K]=8% R245K Neutral 9 0.037 SNPs&GO R245T Neutral 9 0.029 PhD-SNP: F[R]=20% F[T]=15% Nali=60 R245T Neutral 1 0.470 PANTHER: F[R]=57% F[T]=2% R245T Neutral 9 0.044 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. ** ** ** **********************************************************************************************