********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: SP.seq Mutation Prediction RI Probability Method V5L Neutral 6 0.208 PhD-SNP: F[V]=100% F[L]=0% Nali=2 V5L Unclassified NA NA PANTHER: F[V]=NA F[L]=NA V5L Neutral 8 0.076 SNPs&GO L7M Neutral 9 0.033 PhD-SNP: F[L]=50% F[M]=25% Nali=3 L7M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L7M Neutral 10 0.011 SNPs&GO P10L Disease 2 0.577 PhD-SNP: F[P]=50% F[L]=0% Nali=3 P10L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P10L Neutral 6 0.217 SNPs&GO P27S Neutral 7 0.149 PhD-SNP: F[P]=50% F[S]=19% Nali=15 P27S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P27S Neutral 9 0.050 SNPs&GO A30P Disease 3 0.642 PhD-SNP: F[A]=31% F[P]=0% Nali=15 A30P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A30P Neutral 5 0.244 SNPs&GO A30S Neutral 8 0.108 PhD-SNP: F[A]=31% F[S]=19% Nali=15 A30S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A30S Neutral 9 0.049 SNPs&GO T39A Neutral 6 0.191 PhD-SNP: F[T]=61% F[A]=6% Nali=17 T39A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T39A Neutral 8 0.106 SNPs&GO R68Q Neutral 8 0.124 PhD-SNP: F[R]=24% F[Q]=10% Nali=50 R68Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R68Q Neutral 9 0.049 SNPs&GO G69R Neutral 6 0.181 PhD-SNP: F[G]=22% F[R]=0% Nali=53 G69R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G69R Neutral 9 0.072 SNPs&GO G71R Neutral 7 0.165 PhD-SNP: F[G]=34% F[R]=5% Nali=55 G71R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G71R Neutral 9 0.059 SNPs&GO A77V Neutral 8 0.080 PhD-SNP: F[A]=23% F[V]=2% Nali=95 A77V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A77V Neutral 9 0.031 SNPs&GO C88W Disease 4 0.692 PhD-SNP: F[C]=89% F[W]=0% Nali=357 C88W Disease 10 0.990 PANTHER: F[C]=93% F[W]=0% C88W Disease 6 0.813 SNPs&GO S94R Neutral 6 0.190 PhD-SNP: F[S]=30% F[R]=2% Nali=355 S94R Neutral 7 0.140 PANTHER: F[S]=10% F[R]=4% S94R Neutral 9 0.058 SNPs&GO A101G Neutral 8 0.078 PhD-SNP: F[A]=13% F[G]=13% Nali=434 A101G Unclassified NA NA PANTHER: F[A]=NA F[G]=NA A101G Neutral 9 0.040 SNPs&GO A101V Neutral 7 0.126 PhD-SNP: F[A]=13% F[V]=6% Nali=434 A101V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A101V Neutral 9 0.050 SNPs&GO R104G Disease 6 0.778 PhD-SNP: F[R]=85% F[G]=0% Nali=1001 R104G Disease 8 0.916 PANTHER: F[R]=66% F[G]=0% R104G Disease 4 0.694 SNPs&GO R104S Disease 7 0.859 PhD-SNP: F[R]=85% F[S]=0% Nali=1001 R104S Disease 8 0.881 PANTHER: F[R]=66% F[S]=1% R104S Disease 6 0.804 SNPs&GO A110T Neutral 8 0.101 PhD-SNP: F[A]=7% F[T]=8% Nali=1042 A110T Neutral 6 0.216 PANTHER: F[A]=7% F[T]=5% A110T Neutral 9 0.055 SNPs&GO P112R Neutral 8 0.099 PhD-SNP: F[P]=9% F[R]=10% Nali=1044 P112R Neutral 4 0.296 PANTHER: F[P]=4% F[R]=8% P112R Neutral 9 0.043 SNPs&GO P113S Neutral 6 0.205 PhD-SNP: F[P]=29% F[S]=3% Nali=1047 P113S Neutral 6 0.183 PANTHER: F[P]=7% F[S]=6% P113S Neutral 9 0.035 SNPs&GO V120A Neutral 8 0.101 PhD-SNP: F[V]=59% F[A]=29% Nali=1051 V120A Neutral 6 0.204 PANTHER: F[V]=33% F[A]=40% V120A Neutral 10 0.021 SNPs&GO L124F Neutral 7 0.164 PhD-SNP: F[L]=16% F[F]=9% Nali=998 L124F Neutral 0 0.483 PANTHER: F[L]=4% F[F]=0% L124F Neutral 8 0.080 SNPs&GO G131D Disease 8 0.899 PhD-SNP: F[G]=94% F[D]=0% Nali=1056 G131D Disease 9 0.930 PANTHER: F[G]=78% F[D]=0% G131D Disease 7 0.833 SNPs&GO A143T Disease 7 0.847 PhD-SNP: F[A]=97% F[T]=0% Nali=1059 A143T Disease 7 0.842 PANTHER: F[A]=81% F[T]=2% A143T Disease 6 0.791 SNPs&GO C146R Disease 9 0.942 PhD-SNP: F[C]=100% F[R]=0% Nali=1058 C146R Disease 10 0.999 PANTHER: F[C]=99% F[R]=0% C146R Disease 8 0.877 SNPs&GO E153D Neutral 6 0.182 PhD-SNP: F[E]=9% F[D]=6% Nali=1011 E153D Neutral 6 0.223 PANTHER: F[E]=9% F[D]=6% E153D Neutral 9 0.051 SNPs&GO V158L Neutral 1 0.445 PhD-SNP: F[V]=49% F[L]=9% Nali=1038 V158L Neutral 0 0.489 PANTHER: F[V]=41% F[L]=7% V158L Neutral 2 0.403 SNPs&GO P173S Neutral 9 0.059 PhD-SNP: F[P]=11% F[S]=14% Nali=1029 P173S Neutral 4 0.313 PANTHER: F[P]=3% F[S]=7% P173S Neutral 10 0.021 SNPs&GO P173T Neutral 9 0.066 PhD-SNP: F[P]=11% F[T]=5% Nali=1029 P173T Neutral 6 0.213 PANTHER: F[P]=3% F[T]=3% P173T Neutral 10 0.017 SNPs&GO R176S Neutral 2 0.416 PhD-SNP: F[R]=31% F[S]=5% Nali=1053 R176S Disease 0 0.517 PANTHER: F[R]=29% F[S]=4% R176S Neutral 5 0.248 SNPs&GO P179S Neutral 8 0.117 PhD-SNP: F[P]=8% F[S]=6% Nali=1051 P179S Neutral 3 0.369 PANTHER: F[P]=3% F[S]=9% P179S Neutral 9 0.031 SNPs&GO P179T Neutral 8 0.090 PhD-SNP: F[P]=8% F[T]=6% Nali=1051 P179T Neutral 3 0.330 PANTHER: F[P]=3% F[T]=7% P179T Neutral 10 0.024 SNPs&GO P185L Neutral 4 0.275 PhD-SNP: F[P]=21% F[L]=3% Nali=1031 P185L Neutral 1 0.454 PANTHER: F[P]=16% F[L]=3% P185L Neutral 7 0.132 SNPs&GO N190S Neutral 1 0.460 PhD-SNP: F[N]=51% F[S]=6% Nali=1047 N190S Neutral 1 0.440 PANTHER: F[N]=35% F[S]=8% N190S Neutral 6 0.193 SNPs&GO Q196H Neutral 2 0.379 PhD-SNP: F[Q]=16% F[H]=6% Nali=1060 Q196H Neutral 3 0.330 PANTHER: F[Q]=4% F[H]=1% Q196H Neutral 7 0.134 SNPs&GO L197M Disease 1 0.551 PhD-SNP: F[L]=89% F[M]=2% Nali=1060 L197M Disease 2 0.577 PANTHER: F[L]=72% F[M]=9% L197M Neutral 5 0.261 SNPs&GO S202R Neutral 6 0.182 PhD-SNP: F[S]=8% F[R]=7% Nali=1057 S202R Neutral 6 0.195 PANTHER: F[S]=7% F[R]=7% S202R Neutral 9 0.059 SNPs&GO P203L Neutral 8 0.088 PhD-SNP: F[P]=4% F[L]=18% Nali=1054 P203L Disease 3 0.660 PANTHER: F[P]=0% F[L]=10% P203L Neutral 9 0.064 SNPs&GO P203R Neutral 6 0.222 PhD-SNP: F[P]=4% F[R]=3% Nali=1054 P203R Neutral 5 0.247 PANTHER: F[P]=0% F[R]=1% P203R Neutral 9 0.059 SNPs&GO P216H Neutral 9 0.068 PhD-SNP: F[P]=7% F[H]=0% Nali=1006 P216H Neutral 2 0.403 PANTHER: F[P]=6% F[H]=1% P216H Neutral 9 0.030 SNPs&GO P216L Neutral 9 0.054 PhD-SNP: F[P]=7% F[L]=2% Nali=1006 P216L Neutral 3 0.372 PANTHER: F[P]=6% F[L]=2% P216L Neutral 9 0.037 SNPs&GO P220L Neutral 5 0.253 PhD-SNP: F[P]=38% F[L]=3% Nali=1039 P220L Disease 5 0.748 PANTHER: F[P]=1% F[L]=28% P220L Neutral 9 0.059 SNPs&GO A228S Neutral 7 0.157 PhD-SNP: F[A]=17% F[S]=25% Nali=1057 A228S Disease 1 0.557 PANTHER: F[A]=36% F[S]=5% A228S Neutral 5 0.241 SNPs&GO G237R Disease 4 0.677 PhD-SNP: F[G]=58% F[R]=1% Nali=1047 G237R Disease 5 0.739 PANTHER: F[G]=43% F[R]=2% G237R Disease 4 0.693 SNPs&GO R244T Neutral 1 0.452 PhD-SNP: F[R]=17% F[T]=0% Nali=1058 R244T Neutral 1 0.449 PANTHER: F[R]=10% F[T]=2% R244T Neutral 5 0.269 SNPs&GO A246T Neutral 3 0.357 PhD-SNP: F[A]=49% F[T]=3% Nali=1058 A246T Neutral 1 0.439 PANTHER: F[A]=12% F[T]=3% A246T Neutral 6 0.190 SNPs&GO P249L Disease 0 0.517 PhD-SNP: F[P]=62% F[L]=1% Nali=1058 P249L Disease 7 0.837 PANTHER: F[P]=44% F[L]=1% P249L Neutral 2 0.406 SNPs&GO R257G Neutral 3 0.353 PhD-SNP: F[R]=16% F[G]=1% Nali=1048 R257G Disease 1 0.564 PANTHER: F[R]=16% F[G]=2% R257G Neutral 6 0.221 SNPs&GO G263W Disease 2 0.592 PhD-SNP: F[G]=41% F[W]=0% Nali=1027 G263W Disease 2 0.577 PANTHER: F[G]=2% F[W]=0% G263W Neutral 6 0.220 SNPs&GO P266L Neutral 2 0.379 PhD-SNP: F[P]=20% F[L]=2% Nali=988 P266L Neutral 6 0.193 PANTHER: F[P]=4% F[L]=5% P266L Neutral 9 0.059 SNPs&GO M269T Disease 5 0.750 PhD-SNP: F[M]=80% F[T]=1% Nali=1045 M269T Neutral 1 0.448 PANTHER: F[M]=23% F[T]=5% M269T Disease 1 0.532 SNPs&GO G278D Disease 7 0.867 PhD-SNP: F[G]=66% F[D]=0% Nali=1051 G278D Disease 2 0.621 PANTHER: F[G]=36% F[D]=3% G278D Disease 5 0.770 SNPs&GO G278V Disease 7 0.844 PhD-SNP: F[G]=66% F[V]=0% Nali=1051 G278V Disease 5 0.760 PANTHER: F[G]=36% F[V]=1% G278V Disease 6 0.790 SNPs&GO P289S Disease 3 0.633 PhD-SNP: F[P]=99% F[S]=0% Nali=1054 P289S Disease 9 0.967 PANTHER: F[P]=96% F[S]=0% P289S Disease 4 0.724 SNPs&GO P289T Disease 3 0.655 PhD-SNP: F[P]=99% F[T]=0% Nali=1054 P289T Disease 9 0.974 PANTHER: F[P]=96% F[T]=0% P289T Disease 4 0.712 SNPs&GO C292S Disease 1 0.551 PhD-SNP: F[C]=72% F[S]=3% Nali=962 C292S Neutral 2 0.405 PANTHER: F[C]=1% F[S]=4% C292S Neutral 7 0.169 SNPs&GO C292Y Disease 3 0.661 PhD-SNP: F[C]=72% F[Y]=2% Nali=962 C292Y Neutral 5 0.269 PANTHER: F[C]=1% F[Y]=2% C292Y Neutral 6 0.195 SNPs&GO G314R Disease 6 0.819 PhD-SNP: F[G]=33% F[R]=0% Nali=1050 G314R Disease 8 0.923 PANTHER: F[G]=42% F[R]=0% G314R Disease 7 0.874 SNPs&GO V325L Disease 3 0.641 PhD-SNP: F[V]=79% F[L]=4% Nali=1046 V325L Disease 3 0.666 PANTHER: F[V]=51% F[L]=4% V325L Disease 1 0.550 SNPs&GO D330A Disease 2 0.611 PhD-SNP: F[D]=39% F[A]=3% Nali=1042 D330A Neutral 2 0.396 PANTHER: F[D]=16% F[A]=4% D330A Neutral 5 0.239 SNPs&GO D330V Disease 5 0.760 PhD-SNP: F[D]=39% F[V]=0% Nali=1042 D330V Disease 2 0.591 PANTHER: F[D]=16% F[V]=1% D330V Neutral 0 0.480 SNPs&GO S337R Neutral 5 0.242 PhD-SNP: F[S]=19% F[R]=4% Nali=511 S337R Unclassified NA NA PANTHER: F[S]=NA F[R]=NA S337R Neutral 8 0.105 SNPs&GO C346F Neutral 2 0.389 PhD-SNP: F[C]=60% F[F]=4% Nali=44 C346F Unclassified NA NA PANTHER: F[C]=NA F[F]=NA C346F Neutral 8 0.116 SNPs&GO C346Y Neutral 1 0.443 PhD-SNP: F[C]=60% F[Y]=0% Nali=44 C346Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C346Y Neutral 7 0.167 SNPs&GO R347G Neutral 5 0.227 PhD-SNP: F[R]=35% F[G]=0% Nali=39 R347G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R347G Neutral 8 0.103 SNPs&GO P354S Neutral 6 0.213 PhD-SNP: F[P]=52% F[S]=3% Nali=30 P354S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P354S Neutral 8 0.091 SNPs&GO P354T Neutral 6 0.214 PhD-SNP: F[P]=52% F[T]=0% Nali=30 P354T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P354T Neutral 9 0.053 SNPs&GO R371H Neutral 0 0.486 PhD-SNP: F[R]=44% F[H]=0% Nali=17 R371H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R371H Neutral 6 0.224 SNPs&GO P374L Neutral 1 0.462 PhD-SNP: F[P]=70% F[L]=13% Nali=22 P374L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P374L Neutral 5 0.237 SNPs&GO P374Q Disease 2 0.621 PhD-SNP: F[P]=70% F[Q]=0% Nali=22 P374Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P374Q Neutral 2 0.385 SNPs&GO P374R Disease 3 0.663 PhD-SNP: F[P]=70% F[R]=0% Nali=22 P374R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P374R Neutral 1 0.459 SNPs&GO A381V Neutral 7 0.175 PhD-SNP: F[A]=44% F[V]=6% Nali=17 A381V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A381V Neutral 8 0.079 SNPs&GO A384E Neutral 1 0.474 PhD-SNP: F[A]=78% F[E]=0% Nali=17 A384E Unclassified NA NA PANTHER: F[A]=NA F[E]=NA A384E Neutral 5 0.240 SNPs&GO A384V Neutral 5 0.251 PhD-SNP: F[A]=78% F[V]=6% Nali=17 A384V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A384V Neutral 8 0.121 SNPs&GO S399W Disease 5 0.728 PhD-SNP: F[S]=88% F[W]=0% Nali=15 S399W Unclassified NA NA PANTHER: F[S]=NA F[W]=NA S399W Neutral 3 0.359 SNPs&GO R409Q Neutral 4 0.321 PhD-SNP: F[R]=71% F[Q]=21% Nali=13 R409Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R409Q Neutral 8 0.124 SNPs&GO E413G Neutral 2 0.415 PhD-SNP: F[E]=57% F[G]=0% Nali=13 E413G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E413G Neutral 8 0.119 SNPs&GO E413V Disease 2 0.593 PhD-SNP: F[E]=57% F[V]=0% Nali=13 E413V Unclassified NA NA PANTHER: F[E]=NA F[V]=NA E413V Neutral 5 0.245 SNPs&GO G416R Neutral 4 0.315 PhD-SNP: F[G]=75% F[R]=17% Nali=11 G416R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G416R Neutral 7 0.132 SNPs&GO G416W Disease 5 0.741 PhD-SNP: F[G]=75% F[W]=0% Nali=11 G416W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G416W Neutral 2 0.380 SNPs&GO G420R Disease 2 0.607 PhD-SNP: F[G]=85% F[R]=0% Nali=12 G420R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G420R Neutral 3 0.328 SNPs&GO L421M Neutral 8 0.098 PhD-SNP: F[L]=83% F[M]=17% Nali=11 L421M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L421M Neutral 9 0.027 SNPs&GO R422Q Neutral 1 0.451 PhD-SNP: F[R]=75% F[Q]=0% Nali=11 R422Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R422Q Neutral 7 0.168 SNPs&GO A434T Neutral 4 0.322 PhD-SNP: F[A]=45% F[T]=0% Nali=10 A434T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A434T Neutral 8 0.080 SNPs&GO E437A Neutral 3 0.375 PhD-SNP: F[E]=91% F[A]=0% Nali=10 E437A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E437A Neutral 8 0.089 SNPs&GO E437G Neutral 1 0.435 PhD-SNP: F[E]=91% F[G]=0% Nali=10 E437G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E437G Neutral 8 0.112 SNPs&GO S438A Neutral 7 0.129 PhD-SNP: F[S]=27% F[A]=0% Nali=10 S438A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S438A Neutral 9 0.050 SNPs&GO H441Q Neutral 2 0.424 PhD-SNP: F[H]=82% F[Q]=0% Nali=10 H441Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H441Q Neutral 7 0.133 SNPs&GO A443D Disease 2 0.602 PhD-SNP: F[A]=64% F[D]=0% Nali=10 A443D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A443D Neutral 6 0.181 SNPs&GO A443G Neutral 4 0.287 PhD-SNP: F[A]=64% F[G]=0% Nali=10 A443G Unclassified NA NA PANTHER: F[A]=NA F[G]=NA A443G Neutral 9 0.057 SNPs&GO A443T Neutral 7 0.158 PhD-SNP: F[A]=64% F[T]=9% Nali=10 A443T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A443T Neutral 9 0.030 SNPs&GO E445D Neutral 2 0.423 PhD-SNP: F[E]=100% F[D]=0% Nali=9 E445D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E445D Neutral 8 0.124 SNPs&GO R447G Neutral 0 0.484 PhD-SNP: F[R]=100% F[G]=0% Nali=9 R447G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R447G Neutral 6 0.216 SNPs&GO H449Q Neutral 0 0.482 PhD-SNP: F[H]=60% F[Q]=0% Nali=9 H449Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H449Q Neutral 7 0.153 SNPs&GO G472S Disease 1 0.567 PhD-SNP: F[G]=82% F[S]=0% Nali=10 G472S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G472S Neutral 6 0.206 SNPs&GO R480P Disease 7 0.845 PhD-SNP: F[R]=45% F[P]=0% Nali=10 R480P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R480P Neutral 1 0.427 SNPs&GO R480Q Neutral 7 0.150 PhD-SNP: F[R]=45% F[Q]=36% Nali=10 R480Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R480Q Neutral 9 0.039 SNPs&GO I493F Disease 4 0.685 PhD-SNP: F[I]=82% F[F]=0% Nali=10 I493F Unclassified NA NA PANTHER: F[I]=NA F[F]=NA I493F Neutral 3 0.361 SNPs&GO L494V Disease 1 0.535 PhD-SNP: F[L]=100% F[V]=0% Nali=10 L494V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L494V Neutral 3 0.343 SNPs&GO S498L Disease 5 0.733 PhD-SNP: F[S]=45% F[L]=0% Nali=10 S498L Unclassified NA NA PANTHER: F[S]=NA F[L]=NA S498L Neutral 5 0.273 SNPs&GO L501M Disease 1 0.550 PhD-SNP: F[L]=100% F[M]=0% Nali=10 L501M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L501M Neutral 6 0.215 SNPs&GO N504H Disease 4 0.680 PhD-SNP: F[N]=64% F[H]=0% Nali=10 N504H Unclassified NA NA PANTHER: F[N]=NA F[H]=NA N504H Neutral 5 0.253 SNPs&GO V525A Disease 2 0.588 PhD-SNP: F[V]=100% F[A]=0% Nali=10 V525A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V525A Neutral 5 0.237 SNPs&GO R526G Disease 4 0.715 PhD-SNP: F[R]=100% F[G]=0% Nali=10 R526G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R526G Neutral 0 0.486 SNPs&GO G531S Disease 3 0.668 PhD-SNP: F[G]=64% F[S]=0% Nali=10 G531S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G531S Neutral 3 0.326 SNPs&GO G538C Disease 7 0.832 PhD-SNP: F[G]=100% F[C]=0% Nali=10 G538C Unclassified NA NA PANTHER: F[G]=NA F[C]=NA G538C Disease 2 0.622 SNPs&GO G541S Disease 4 0.692 PhD-SNP: F[G]=100% F[S]=0% Nali=10 G541S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G541S Neutral 0 0.495 SNPs&GO T546A Neutral 2 0.394 PhD-SNP: F[T]=91% F[A]=0% Nali=10 T546A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T546A Neutral 6 0.196 SNPs&GO R549C Disease 4 0.681 PhD-SNP: F[R]=64% F[C]=0% Nali=10 R549C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R549C Neutral 4 0.313 SNPs&GO R549G Disease 2 0.590 PhD-SNP: F[R]=64% F[G]=0% Nali=10 R549G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R549G Neutral 5 0.256 SNPs&GO L551P Disease 4 0.708 PhD-SNP: F[L]=82% F[P]=0% Nali=10 L551P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L551P Neutral 2 0.399 SNPs&GO P552S Disease 2 0.586 PhD-SNP: F[P]=100% F[S]=0% Nali=10 P552S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P552S Neutral 4 0.306 SNPs&GO R553P Disease 6 0.795 PhD-SNP: F[R]=82% F[P]=0% Nali=10 R553P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R553P Disease 1 0.532 SNPs&GO A565T Disease 3 0.647 PhD-SNP: F[A]=100% F[T]=0% Nali=8 A565T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A565T Neutral 2 0.376 SNPs&GO A566S Neutral 8 0.091 PhD-SNP: F[A]=56% F[S]=33% Nali=8 A566S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A566S Neutral 9 0.034 SNPs&GO L567V Neutral 2 0.413 PhD-SNP: F[L]=100% F[V]=0% Nali=8 L567V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L567V Neutral 5 0.238 SNPs&GO M577V Disease 0 0.501 PhD-SNP: F[M]=43% F[V]=0% Nali=6 M577V Unclassified NA NA PANTHER: F[M]=NA F[V]=NA M577V Neutral 6 0.194 SNPs&GO R587K Neutral 3 0.327 PhD-SNP: F[R]=86% F[K]=14% Nali=6 R587K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R587K Neutral 8 0.108 SNPs&GO P598S Neutral 3 0.331 PhD-SNP: F[P]=100% F[S]=0% Nali=6 P598S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P598S Neutral 8 0.093 SNPs&GO P598T Neutral 2 0.410 PhD-SNP: F[P]=100% F[T]=0% Nali=6 P598T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P598T Neutral 8 0.087 SNPs&GO P599T Neutral 6 0.213 PhD-SNP: F[P]=67% F[T]=0% Nali=2 P599T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P599T Neutral 9 0.037 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. ** ** ** **********************************************************************************************