********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: CAC1C_HUMAN.seq Mutation Prediction RI Probability Method L587I Neutral 3 0.366 PhD-SNP: F[L]=11% F[I]=1% Nali=1647 L587I Neutral 4 0.290 PANTHER: F[L]=62% F[I]=7% L587I Disease 6 0.806 SNPs&GO R590C Disease 5 0.734 PhD-SNP: F[R]=13% F[C]=6% Nali=1648 R590C Disease 9 0.962 PANTHER: F[R]=84% F[C]=0% R590C Disease 9 0.973 SNPs&GO R590H Neutral 2 0.407 PhD-SNP: F[R]=13% F[H]=0% Nali=1648 R590H Disease 8 0.912 PANTHER: F[R]=84% F[H]=0% R590H Disease 9 0.948 SNPs&GO V595I Neutral 8 0.110 PhD-SNP: F[V]=37% F[I]=43% Nali=1640 V595I Neutral 9 0.055 PANTHER: F[V]=33% F[I]=33% V595I Neutral 2 0.409 SNPs&GO V596M Disease 7 0.872 PhD-SNP: F[V]=82% F[M]=0% Nali=1630 V596M Disease 7 0.839 PANTHER: F[V]=74% F[M]=1% V596M Disease 9 0.970 SNPs&GO G599D Disease 6 0.781 PhD-SNP: F[G]=17% F[D]=0% Nali=1593 G599D Disease 3 0.637 PANTHER: F[G]=74% F[D]=1% G599D Disease 9 0.968 SNPs&GO G599S Neutral 8 0.093 PhD-SNP: F[G]=17% F[S]=68% Nali=1593 G599S Disease 0 0.510 PANTHER: F[G]=74% F[S]=3% G599S Disease 4 0.710 SNPs&GO E607A Neutral 2 0.405 PhD-SNP: F[E]=34% F[A]=5% Nali=1517 E607A Neutral 1 0.446 PANTHER: F[E]=59% F[A]=3% E607A Disease 7 0.871 SNPs&GO T608I Neutral 5 0.247 PhD-SNP: F[T]=11% F[I]=13% Nali=1515 T608I Neutral 1 0.432 PANTHER: F[T]=52% F[I]=2% T608I Disease 6 0.822 SNPs&GO T608N Neutral 3 0.337 PhD-SNP: F[T]=11% F[N]=3% Nali=1515 T608N Neutral 0 0.477 PANTHER: F[T]=52% F[N]=2% T608N Disease 8 0.880 SNPs&GO I610V Neutral 8 0.105 PhD-SNP: F[I]=14% F[V]=9% Nali=1355 I610V Neutral 7 0.163 PANTHER: F[I]=52% F[V]=14% I610V Neutral 2 0.407 SNPs&GO S612C Disease 3 0.663 PhD-SNP: F[S]=42% F[C]=0% Nali=1404 S612C Disease 3 0.667 PANTHER: F[S]=56% F[C]=1% S612C Disease 8 0.914 SNPs&GO L614P Disease 5 0.764 PhD-SNP: F[L]=22% F[P]=1% Nali=1415 L614P Disease 9 0.940 PANTHER: F[L]=80% F[P]=0% L614P Disease 9 0.960 SNPs&GO L614R Disease 3 0.644 PhD-SNP: F[L]=22% F[R]=2% Nali=1415 L614R Disease 8 0.924 PANTHER: F[L]=80% F[R]=0% L614R Disease 9 0.953 SNPs&GO S617F Disease 4 0.702 PhD-SNP: F[S]=42% F[F]=1% Nali=1679 S617F Disease 10 0.995 PANTHER: F[S]=95% F[F]=0% S617F Disease 9 0.959 SNPs&GO V618G Disease 5 0.762 PhD-SNP: F[V]=51% F[G]=1% Nali=1683 V618G Neutral 0 0.486 PANTHER: F[V]=44% F[G]=1% V618G Disease 9 0.932 SNPs&GO V618L Disease 2 0.625 PhD-SNP: F[V]=51% F[L]=4% Nali=1683 V618L Neutral 6 0.202 PANTHER: F[V]=44% F[L]=8% V618L Disease 7 0.871 SNPs&GO V618M Disease 3 0.629 PhD-SNP: F[V]=51% F[M]=1% Nali=1683 V618M Neutral 2 0.420 PANTHER: F[V]=44% F[M]=2% V618M Disease 8 0.892 SNPs&GO L619F Disease 1 0.561 PhD-SNP: F[L]=64% F[F]=12% Nali=1688 L619F Neutral 5 0.271 PANTHER: F[L]=46% F[F]=5% L619F Disease 7 0.845 SNPs&GO V622I Neutral 5 0.259 PhD-SNP: F[V]=14% F[I]=3% Nali=1692 V622I Neutral 6 0.193 PANTHER: F[V]=54% F[I]=11% V622I Disease 3 0.637 SNPs&GO L624M Disease 1 0.538 PhD-SNP: F[L]=41% F[M]=0% Nali=1698 L624M Disease 9 0.972 PANTHER: F[L]=95% F[M]=0% L624M Disease 8 0.910 SNPs&GO K629R Neutral 7 0.158 PhD-SNP: F[K]=59% F[R]=36% Nali=1696 K629R Disease 9 0.973 PANTHER: F[K]=96% F[R]=0% K629R Disease 6 0.817 SNPs&GO I630T Neutral 2 0.409 PhD-SNP: F[I]=10% F[T]=5% Nali=1694 I630T Neutral 1 0.442 PANTHER: F[I]=50% F[T]=2% I630T Disease 8 0.878 SNPs&GO I630V Neutral 7 0.167 PhD-SNP: F[I]=10% F[V]=13% Nali=1694 I630V Neutral 7 0.146 PANTHER: F[I]=50% F[V]=14% I630V Neutral 0 0.476 SNPs&GO T631M Neutral 0 0.493 PhD-SNP: F[T]=17% F[M]=1% Nali=1691 T631M Disease 10 0.990 PANTHER: F[T]=92% F[M]=0% T631M Disease 9 0.971 SNPs&GO N635D Neutral 2 0.409 PhD-SNP: F[N]=5% F[D]=1% Nali=1672 N635D Neutral 4 0.323 PANTHER: F[N]=54% F[D]=4% N635D Disease 8 0.885 SNPs&GO S638R Neutral 7 0.172 PhD-SNP: F[S]=12% F[R]=51% Nali=1688 S638R Neutral 0 0.497 PANTHER: F[S]=53% F[R]=2% S638R Disease 8 0.897 SNPs&GO N639K Neutral 1 0.430 PhD-SNP: F[N]=16% F[K]=3% Nali=1699 N639K Disease 10 0.977 PANTHER: F[N]=94% F[K]=0% N639K Disease 9 0.955 SNPs&GO V641M Disease 1 0.561 PhD-SNP: F[V]=36% F[M]=3% Nali=1700 V641M Disease 9 0.967 PANTHER: F[V]=89% F[M]=0% V641M Disease 9 0.966 SNPs&GO L644W Disease 4 0.714 PhD-SNP: F[L]=55% F[W]=0% Nali=1701 L644W Disease 10 0.991 PANTHER: F[L]=91% F[W]=0% L644W Disease 9 0.934 SNPs&GO N646T Neutral 3 0.359 PhD-SNP: F[N]=25% F[T]=2% Nali=1700 N646T Disease 7 0.859 PANTHER: F[N]=82% F[T]=1% N646T Disease 8 0.893 SNPs&GO S647A Neutral 6 0.215 PhD-SNP: F[S]=58% F[A]=24% Nali=1695 S647A Disease 8 0.897 PANTHER: F[S]=91% F[A]=1% S647A Disease 7 0.872 SNPs&GO V648L Neutral 4 0.289 PhD-SNP: F[V]=15% F[L]=32% Nali=1697 V648L Neutral 7 0.138 PANTHER: F[V]=44% F[L]=13% V648L Disease 6 0.778 SNPs&GO V648M Neutral 6 0.223 PhD-SNP: F[V]=15% F[M]=24% Nali=1697 V648M Neutral 2 0.388 PANTHER: F[V]=44% F[M]=2% V648M Disease 6 0.822 SNPs&GO R649C Disease 2 0.612 PhD-SNP: F[R]=9% F[C]=1% Nali=1696 R649C Disease 6 0.797 PANTHER: F[R]=59% F[C]=0% R649C Disease 9 0.942 SNPs&GO R649H Neutral 2 0.393 PhD-SNP: F[R]=9% F[H]=0% Nali=1696 R649H Disease 2 0.599 PANTHER: F[R]=59% F[H]=1% R649H Disease 9 0.927 SNPs&GO I651N Disease 6 0.783 PhD-SNP: F[I]=37% F[N]=0% Nali=1695 I651N Disease 3 0.669 PANTHER: F[I]=50% F[N]=0% I651N Disease 9 0.973 SNPs&GO I651V Neutral 7 0.156 PhD-SNP: F[I]=37% F[V]=18% Nali=1695 I651V Neutral 7 0.146 PANTHER: F[I]=50% F[V]=14% I651V Neutral 1 0.475 SNPs&GO A652T Neutral 4 0.275 PhD-SNP: F[A]=17% F[T]=1% Nali=1699 A652T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A652T Disease 1 0.568 SNPs&GO L658I Disease 2 0.581 PhD-SNP: F[L]=54% F[I]=8% Nali=1699 L658I Disease 9 0.962 PANTHER: F[L]=95% F[I]=0% L658I Disease 7 0.850 SNPs&GO L658P Disease 8 0.913 PhD-SNP: F[L]=54% F[P]=0% Nali=1699 L658P Disease 10 0.994 PANTHER: F[L]=95% F[P]=0% L658P Disease 9 0.929 SNPs&GO I663V Neutral 6 0.179 PhD-SNP: F[I]=15% F[V]=8% Nali=1695 I663V Neutral 7 0.163 PANTHER: F[I]=52% F[V]=14% I663V Disease 1 0.547 SNPs&GO I664V Neutral 4 0.299 PhD-SNP: F[I]=81% F[V]=9% Nali=1697 I664V Neutral 1 0.457 PANTHER: F[I]=72% F[V]=9% I664V Disease 5 0.771 SNPs&GO G675E Disease 7 0.865 PhD-SNP: F[G]=50% F[E]=2% Nali=1649 G675E Disease 10 0.987 PANTHER: F[G]=97% F[E]=0% G675E Disease 9 0.972 SNPs&GO K676R Disease 2 0.610 PhD-SNP: F[K]=45% F[R]=6% Nali=1630 K676R Neutral 4 0.277 PANTHER: F[K]=57% F[R]=7% K676R Disease 9 0.937 SNPs&GO F679L Disease 0 0.511 PhD-SNP: F[F]=27% F[L]=9% Nali=1659 F679L Disease 5 0.730 PANTHER: F[F]=82% F[L]=2% F679L Disease 9 0.968 SNPs&GO E681G Disease 2 0.581 PhD-SNP: F[E]=32% F[G]=4% Nali=1637 E681G Neutral 0 0.489 PANTHER: F[E]=59% F[G]=2% E681G Disease 9 0.963 SNPs&GO M682T Neutral 4 0.295 PhD-SNP: F[M]=12% F[T]=14% Nali=1575 M682T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M682T Disease 1 0.573 SNPs&GO Q683E Neutral 7 0.169 PhD-SNP: F[Q]=13% F[E]=16% Nali=1523 Q683E Neutral 7 0.143 PANTHER: F[Q]=28% F[E]=6% Q683E Disease 5 0.740 SNPs&GO T684I Neutral 3 0.337 PhD-SNP: F[T]=20% F[I]=4% Nali=1498 T684I Neutral 2 0.379 PANTHER: F[T]=42% F[I]=2% T684I Disease 8 0.879 SNPs&GO R685Q Neutral 2 0.390 PhD-SNP: F[R]=30% F[Q]=5% Nali=1489 R685Q Neutral 4 0.310 PANTHER: F[R]=45% F[Q]=4% R685Q Disease 7 0.846 SNPs&GO R685W Disease 3 0.626 PhD-SNP: F[R]=30% F[W]=0% Nali=1489 R685W Disease 6 0.805 PANTHER: F[R]=45% F[W]=0% R685W Disease 9 0.958 SNPs&GO D690G Disease 5 0.751 PhD-SNP: F[D]=51% F[G]=1% Nali=1699 D690G Neutral 0 0.496 PANTHER: F[D]=63% F[G]=2% D690G Disease 9 0.961 SNPs&GO D690N Disease 1 0.537 PhD-SNP: F[D]=51% F[N]=8% Nali=1699 D690N Neutral 1 0.427 PANTHER: F[D]=63% F[N]=3% D690N Disease 9 0.929 SNPs&GO F692I Disease 3 0.642 PhD-SNP: F[F]=62% F[I]=6% Nali=1702 F692I Neutral 1 0.434 PANTHER: F[F]=60% F[I]=3% F692I Disease 9 0.943 SNPs&GO Q694E Neutral 0 0.492 PhD-SNP: F[Q]=21% F[E]=1% Nali=1700 Q694E Neutral 3 0.348 PANTHER: F[Q]=53% F[E]=4% Q694E Disease 9 0.936 SNPs&GO S695T Disease 0 0.518 PhD-SNP: F[S]=34% F[T]=1% Nali=1699 S695T Neutral 3 0.325 PANTHER: F[S]=53% F[T]=4% S695T Disease 8 0.892 SNPs&GO F700V Disease 8 0.895 PhD-SNP: F[F]=87% F[V]=0% Nali=1702 F700V Disease 10 0.992 PANTHER: F[F]=96% F[V]=0% F700V Disease 9 0.964 SNPs&GO G705R Disease 8 0.914 PhD-SNP: F[G]=51% F[R]=1% Nali=1694 G705R Disease 10 0.989 PANTHER: F[G]=97% F[R]=0% G705R Disease 9 0.966 SNPs&GO D714N Disease 2 0.622 PhD-SNP: F[D]=51% F[N]=16% Nali=1614 D714N Neutral 1 0.427 PANTHER: F[D]=63% F[N]=3% D714N Disease 9 0.958 SNPs&GO M717T Disease 5 0.740 PhD-SNP: F[M]=18% F[T]=2% Nali=1581 M717T Neutral 1 0.457 PANTHER: F[M]=47% F[T]=2% M717T Disease 10 0.976 SNPs&GO S723P Disease 6 0.812 PhD-SNP: F[S]=24% F[P]=2% Nali=1323 S723P Disease 1 0.557 PANTHER: F[S]=55% F[P]=1% S723P Disease 10 0.986 SNPs&GO G726E Disease 8 0.896 PhD-SNP: F[G]=41% F[E]=1% Nali=1201 G726E Disease 10 0.987 PANTHER: F[G]=97% F[E]=0% G726E Disease 9 0.965 SNPs&GO C730S Neutral 2 0.377 PhD-SNP: F[C]=19% F[S]=11% Nali=1496 C730S Neutral 0 0.479 PANTHER: F[C]=68% F[S]=3% C730S Disease 7 0.835 SNPs&GO I731L Neutral 5 0.251 PhD-SNP: F[I]=37% F[L]=34% Nali=1544 I731L Neutral 6 0.195 PANTHER: F[I]=51% F[L]=10% I731L Disease 7 0.836 SNPs&GO I738S Disease 6 0.782 PhD-SNP: F[I]=35% F[S]=0% Nali=1558 I738S Disease 1 0.555 PANTHER: F[I]=51% F[S]=1% I738S Disease 9 0.938 SNPs&GO L745P Disease 9 0.930 PhD-SNP: F[L]=60% F[P]=0% Nali=1440 L745P Disease 10 0.986 PANTHER: F[L]=91% F[P]=0% L745P Disease 9 0.967 SNPs&GO I751V Neutral 8 0.107 PhD-SNP: F[I]=38% F[V]=53% Nali=1436 I751V Disease 9 0.929 PANTHER: F[I]=94% F[V]=2% I751V Disease 7 0.869 SNPs&GO A757P Disease 8 0.888 PhD-SNP: F[A]=30% F[P]=0% Nali=1141 A757P Disease 9 0.971 PANTHER: F[A]=92% F[P]=0% A757P Disease 10 0.990 SNPs&GO A757T Disease 1 0.549 PhD-SNP: F[A]=30% F[T]=1% Nali=1141 A757T Disease 9 0.940 PANTHER: F[A]=92% F[T]=0% A757T Disease 10 0.977 SNPs&GO E760K Neutral 5 0.244 PhD-SNP: F[E]=26% F[K]=22% Nali=1011 E760K Neutral 2 0.397 PANTHER: F[E]=58% F[K]=3% E760K Disease 8 0.902 SNPs&GO L762F Neutral 4 0.300 PhD-SNP: F[L]=39% F[F]=3% Nali=939 L762F Neutral 1 0.438 PANTHER: F[L]=61% F[F]=3% L762F Disease 7 0.828 SNPs&GO A765S Neutral 7 0.156 PhD-SNP: F[A]=25% F[S]=9% Nali=914 A765S Neutral 4 0.315 PANTHER: F[A]=58% F[S]=5% A765S Disease 6 0.797 SNPs&GO Q766K Neutral 6 0.224 PhD-SNP: F[Q]=31% F[K]=5% Nali=974 Q766K Neutral 4 0.307 PANTHER: F[Q]=53% F[K]=5% Q766K Disease 7 0.828 SNPs&GO E768K Neutral 3 0.348 PhD-SNP: F[E]=39% F[K]=4% Nali=1027 E768K Neutral 2 0.397 PANTHER: F[E]=58% F[K]=3% E768K Disease 8 0.912 SNPs&GO E770K Neutral 1 0.447 PhD-SNP: F[E]=46% F[K]=6% Nali=1045 E770K Neutral 3 0.355 PANTHER: F[E]=55% F[K]=4% E770K Disease 9 0.926 SNPs&GO E771D Neutral 7 0.152 PhD-SNP: F[E]=40% F[D]=21% Nali=1031 E771D Neutral 4 0.304 PANTHER: F[E]=58% F[D]=6% E771D Disease 7 0.826 SNPs&GO E772D Neutral 7 0.149 PhD-SNP: F[E]=27% F[D]=10% Nali=1000 E772D Neutral 4 0.304 PANTHER: F[E]=58% F[D]=6% E772D Disease 6 0.801 SNPs&GO E772K Neutral 5 0.261 PhD-SNP: F[E]=27% F[K]=6% Nali=1000 E772K Neutral 2 0.397 PANTHER: F[E]=58% F[K]=3% E772K Disease 8 0.892 SNPs&GO R775K Neutral 7 0.172 PhD-SNP: F[R]=28% F[K]=9% Nali=942 R775K Neutral 7 0.160 PANTHER: F[R]=50% F[K]=9% R775K Disease 4 0.688 SNPs&GO K776R Neutral 9 0.070 PhD-SNP: F[K]=22% F[R]=10% Nali=929 K776R Neutral 7 0.166 PANTHER: F[K]=46% F[R]=8% K776R Neutral 1 0.450 SNPs&GO L778P Disease 2 0.589 PhD-SNP: F[L]=30% F[P]=1% Nali=909 L778P Neutral 2 0.406 PANTHER: F[L]=42% F[P]=1% L778P Disease 8 0.920 SNPs&GO A779S Neutral 7 0.151 PhD-SNP: F[A]=22% F[S]=6% Nali=901 A779S Neutral 6 0.193 PANTHER: F[A]=48% F[S]=6% A779S Disease 4 0.690 SNPs&GO A779T Neutral 7 0.148 PhD-SNP: F[A]=22% F[T]=2% Nali=901 A779T Neutral 5 0.238 PANTHER: F[A]=48% F[T]=5% A779T Disease 4 0.701 SNPs&GO A782V Neutral 8 0.117 PhD-SNP: F[A]=15% F[V]=4% Nali=824 A782V Neutral 5 0.258 PANTHER: F[A]=30% F[V]=3% A782V Disease 2 0.599 SNPs&GO S783I Neutral 5 0.243 PhD-SNP: F[S]=23% F[I]=1% Nali=829 S783I Neutral 3 0.361 PANTHER: F[S]=27% F[I]=2% S783I Disease 6 0.789 SNPs&GO S783N Neutral 6 0.201 PhD-SNP: F[S]=23% F[N]=4% Nali=829 S783N Neutral 5 0.228 PANTHER: F[S]=27% F[N]=4% S783N Disease 4 0.718 SNPs&GO P784S Neutral 8 0.105 PhD-SNP: F[P]=36% F[S]=20% Nali=820 P784S Neutral 6 0.197 PANTHER: F[P]=26% F[S]=5% P784S Disease 2 0.586 SNPs&GO P784T Neutral 7 0.152 PhD-SNP: F[P]=36% F[T]=1% Nali=820 P784T Neutral 5 0.234 PANTHER: F[P]=26% F[T]=4% P784T Disease 2 0.575 SNPs&GO E785Q Neutral 6 0.198 PhD-SNP: F[E]=29% F[Q]=5% Nali=844 E785Q Neutral 6 0.220 PANTHER: F[E]=27% F[Q]=4% E785Q Disease 3 0.662 SNPs&GO E785V Neutral 3 0.334 PhD-SNP: F[E]=29% F[V]=1% Nali=844 E785V Neutral 5 0.231 PANTHER: F[E]=27% F[V]=4% E785V Disease 5 0.745 SNPs&GO K786N Neutral 4 0.319 PhD-SNP: F[K]=39% F[N]=5% Nali=864 K786N Neutral 5 0.253 PANTHER: F[K]=30% F[N]=4% K786N Disease 6 0.810 SNPs&GO Q788E Neutral 6 0.201 PhD-SNP: F[Q]=46% F[E]=10% Nali=855 Q788E Neutral 7 0.154 PANTHER: F[Q]=25% F[E]=6% Q788E Disease 5 0.759 SNPs&GO Q788L Neutral 3 0.350 PhD-SNP: F[Q]=46% F[L]=5% Nali=855 Q788L Neutral 5 0.243 PANTHER: F[Q]=25% F[L]=3% Q788L Disease 6 0.817 SNPs&GO E789D Neutral 7 0.132 PhD-SNP: F[E]=17% F[D]=6% Nali=736 E789D Neutral 7 0.168 PANTHER: F[E]=30% F[D]=7% E789D Disease 2 0.619 SNPs&GO E789Q Neutral 8 0.088 PhD-SNP: F[E]=17% F[Q]=9% Nali=736 E789Q Neutral 5 0.232 PANTHER: F[E]=30% F[Q]=4% E789Q Disease 1 0.540 SNPs&GO V791A Neutral 8 0.103 PhD-SNP: F[V]=14% F[A]=4% Nali=675 V791A Neutral 8 0.100 PANTHER: F[V]=13% F[A]=6% V791A Neutral 0 0.477 SNPs&GO V791M Neutral 8 0.116 PhD-SNP: F[V]=14% F[M]=4% Nali=675 V791M Neutral 9 0.061 PANTHER: F[V]=13% F[M]=16% V791M Neutral 4 0.314 SNPs&GO E792D Neutral 8 0.123 PhD-SNP: F[E]=25% F[D]=5% Nali=701 E792D Neutral 4 0.304 PANTHER: F[E]=58% F[D]=6% E792D Disease 6 0.776 SNPs&GO E792G Neutral 7 0.151 PhD-SNP: F[E]=25% F[G]=1% Nali=701 E792G Neutral 0 0.482 PANTHER: F[E]=58% F[G]=2% E792G Disease 7 0.837 SNPs&GO E792K Neutral 7 0.148 PhD-SNP: F[E]=25% F[K]=10% Nali=701 E792K Neutral 2 0.397 PANTHER: F[E]=58% F[K]=3% E792K Disease 7 0.847 SNPs&GO P794L Neutral 6 0.198 PhD-SNP: F[P]=50% F[L]=5% Nali=674 P794L Neutral 4 0.292 PANTHER: F[P]=29% F[L]=3% P794L Disease 4 0.719 SNPs&GO P794S Neutral 5 0.249 PhD-SNP: F[P]=50% F[S]=4% Nali=674 P794S Neutral 6 0.211 PANTHER: F[P]=29% F[S]=5% P794S Disease 4 0.724 SNPs&GO A795V Neutral 8 0.124 PhD-SNP: F[A]=27% F[V]=5% Nali=576 A795V Neutral 5 0.259 PANTHER: F[A]=29% F[V]=3% A795V Disease 2 0.596 SNPs&GO V796E Neutral 4 0.305 PhD-SNP: F[V]=24% F[E]=9% Nali=509 V796E Neutral 5 0.255 PANTHER: F[V]=30% F[E]=3% V796E Disease 7 0.840 SNPs&GO V796G Neutral 5 0.274 PhD-SNP: F[V]=24% F[G]=2% Nali=509 V796G Neutral 4 0.315 PANTHER: F[V]=30% F[G]=2% V796G Disease 6 0.784 SNPs&GO G797A Neutral 8 0.116 PhD-SNP: F[G]=30% F[A]=9% Nali=516 G797A Neutral 8 0.100 PANTHER: F[G]=10% F[A]=4% G797A Neutral 1 0.466 SNPs&GO G797E Neutral 5 0.239 PhD-SNP: F[G]=30% F[E]=11% Nali=516 G797E Neutral 7 0.146 PANTHER: F[G]=10% F[E]=36% G797E Neutral 2 0.387 SNPs&GO G797R Neutral 4 0.291 PhD-SNP: F[G]=30% F[R]=3% Nali=516 G797R Neutral 7 0.136 PANTHER: F[G]=10% F[R]=3% G797R Disease 3 0.667 SNPs&GO E798K Neutral 5 0.259 PhD-SNP: F[E]=32% F[K]=9% Nali=542 E798K Neutral 8 0.092 PANTHER: F[E]=29% F[K]=15% E798K Disease 3 0.649 SNPs&GO S799T Neutral 9 0.072 PhD-SNP: F[S]=26% F[T]=7% Nali=529 S799T Neutral 5 0.231 PANTHER: F[S]=35% F[T]=5% S799T Neutral 0 0.495 SNPs&GO S799Y Neutral 5 0.275 PhD-SNP: F[S]=26% F[Y]=1% Nali=529 S799Y Disease 1 0.567 PANTHER: F[S]=35% F[Y]=1% S799Y Disease 8 0.885 SNPs&GO K800Q Neutral 6 0.180 PhD-SNP: F[K]=30% F[Q]=4% Nali=522 K800Q Neutral 5 0.226 PANTHER: F[K]=32% F[Q]=5% K800Q Disease 1 0.567 SNPs&GO K800R Neutral 8 0.083 PhD-SNP: F[K]=30% F[R]=11% Nali=522 K800R Neutral 7 0.172 PANTHER: F[K]=32% F[R]=7% K800R Neutral 2 0.413 SNPs&GO K800T Neutral 6 0.195 PhD-SNP: F[K]=30% F[T]=3% Nali=522 K800T Neutral 5 0.264 PANTHER: F[K]=32% F[T]=4% K800T Disease 3 0.641 SNPs&GO E802K Neutral 5 0.253 PhD-SNP: F[E]=30% F[K]=11% Nali=514 E802K Neutral 3 0.355 PANTHER: F[E]=55% F[K]=4% E802K Disease 8 0.876 SNPs&GO K803T Neutral 6 0.183 PhD-SNP: F[K]=24% F[T]=3% Nali=513 K803T Neutral 5 0.245 PANTHER: F[K]=28% F[T]=4% K803T Disease 2 0.606 SNPs&GO I804T Neutral 6 0.191 PhD-SNP: F[I]=18% F[T]=5% Nali=481 I804T Neutral 5 0.239 PANTHER: F[I]=28% F[T]=4% I804T Disease 3 0.667 SNPs&GO E805D Neutral 6 0.195 PhD-SNP: F[E]=34% F[D]=8% Nali=487 E805D Neutral 7 0.167 PANTHER: F[E]=29% F[D]=7% E805D Disease 3 0.661 SNPs&GO L806P Disease 2 0.606 PhD-SNP: F[L]=34% F[P]=1% Nali=477 L806P Neutral 1 0.450 PANTHER: F[L]=29% F[P]=1% L806P Disease 9 0.930 SNPs&GO I809F Neutral 7 0.150 PhD-SNP: F[I]=20% F[F]=9% Nali=466 I809F Neutral 3 0.337 PANTHER: F[I]=28% F[F]=2% I809F Disease 5 0.741 SNPs&GO I809M Neutral 8 0.114 PhD-SNP: F[I]=20% F[M]=3% Nali=466 I809M Neutral 4 0.321 PANTHER: F[I]=28% F[M]=2% I809M Disease 3 0.670 SNPs&GO I809V Neutral 9 0.044 PhD-SNP: F[I]=20% F[V]=13% Nali=466 I809V Neutral 8 0.124 PANTHER: F[I]=28% F[V]=10% I809V Neutral 5 0.269 SNPs&GO T810A Neutral 8 0.078 PhD-SNP: F[T]=24% F[A]=4% Nali=490 T810A Neutral 7 0.163 PANTHER: F[T]=25% F[A]=6% T810A Neutral 1 0.457 SNPs&GO T810M Neutral 7 0.127 PhD-SNP: F[T]=24% F[M]=2% Nali=490 T810M Neutral 2 0.404 PANTHER: F[T]=25% F[M]=1% T810M Disease 4 0.689 SNPs&GO D812E Neutral 6 0.194 PhD-SNP: F[D]=36% F[E]=14% Nali=517 D812E Neutral 8 0.090 PANTHER: F[D]=36% F[E]=19% D812E Disease 0 0.504 SNPs&GO G813E Neutral 1 0.452 PhD-SNP: F[G]=35% F[E]=6% Nali=517 G813E Neutral 4 0.309 PANTHER: F[G]=35% F[E]=3% G813E Disease 8 0.890 SNPs&GO G813R Disease 0 0.505 PhD-SNP: F[G]=35% F[R]=2% Nali=517 G813R Neutral 2 0.387 PANTHER: F[G]=35% F[R]=2% G813R Disease 8 0.909 SNPs&GO S815A Neutral 8 0.094 PhD-SNP: F[S]=28% F[A]=10% Nali=502 S815A Neutral 7 0.157 PANTHER: F[S]=36% F[A]=9% S815A Disease 1 0.541 SNPs&GO P816S Neutral 4 0.279 PhD-SNP: F[P]=41% F[S]=7% Nali=464 P816S Neutral 6 0.176 PANTHER: F[P]=32% F[S]=7% P816S Disease 4 0.715 SNPs&GO P817L Neutral 4 0.303 PhD-SNP: F[P]=32% F[L]=5% Nali=454 P817L Neutral 4 0.297 PANTHER: F[P]=30% F[L]=3% P817L Disease 6 0.819 SNPs&GO P817S Neutral 6 0.213 PhD-SNP: F[P]=32% F[S]=8% Nali=454 P817S Neutral 7 0.174 PANTHER: F[P]=30% F[S]=6% P817S Disease 3 0.657 SNPs&GO A818G Neutral 6 0.191 PhD-SNP: F[A]=22% F[G]=8% Nali=450 A818G Neutral 7 0.150 PANTHER: F[A]=12% F[G]=3% A818G Disease 3 0.649 SNPs&GO A818S Neutral 6 0.192 PhD-SNP: F[A]=22% F[S]=9% Nali=450 A818S Neutral 8 0.088 PANTHER: F[A]=12% F[S]=6% A818S Disease 2 0.601 SNPs&GO A818T Neutral 6 0.179 PhD-SNP: F[A]=22% F[T]=9% Nali=450 A818T Neutral 8 0.076 PANTHER: F[A]=12% F[T]=18% A818T Neutral 1 0.463 SNPs&GO T819A Neutral 8 0.078 PhD-SNP: F[T]=23% F[A]=6% Nali=457 T819A Neutral 7 0.166 PANTHER: F[T]=25% F[A]=6% T819A Disease 1 0.544 SNPs&GO T819I Neutral 6 0.177 PhD-SNP: F[T]=23% F[I]=2% Nali=457 T819I Neutral 8 0.078 PANTHER: F[T]=25% F[I]=16% T819I Disease 0 0.509 SNPs&GO T819S Neutral 8 0.082 PhD-SNP: F[T]=23% F[S]=11% Nali=457 T819S Neutral 6 0.212 PANTHER: F[T]=25% F[S]=4% T819S Disease 1 0.532 SNPs&GO M823V Neutral 7 0.138 PhD-SNP: F[M]=18% F[V]=6% Nali=468 M823V Neutral 7 0.154 PANTHER: F[M]=21% F[V]=5% M823V Disease 1 0.554 SNPs&GO D824N Neutral 3 0.331 PhD-SNP: F[D]=40% F[N]=6% Nali=484 D824N Neutral 6 0.223 PANTHER: F[D]=30% F[N]=4% D824N Disease 7 0.870 SNPs&GO N829I Neutral 4 0.281 PhD-SNP: F[N]=25% F[I]=2% Nali=510 N829I Neutral 4 0.322 PANTHER: F[N]=19% F[I]=1% N829I Disease 5 0.750 SNPs&GO N829S Neutral 8 0.117 PhD-SNP: F[N]=25% F[S]=12% Nali=510 N829S Neutral 9 0.066 PANTHER: F[N]=19% F[S]=24% N829S Neutral 5 0.235 SNPs&GO N831S Neutral 8 0.124 PhD-SNP: F[N]=28% F[S]=10% Nali=538 N831S Neutral 6 0.207 PANTHER: F[N]=29% F[S]=5% N831S Disease 0 0.525 SNPs&GO D833N Neutral 5 0.243 PhD-SNP: F[D]=37% F[N]=7% Nali=543 D833N Neutral 8 0.113 PANTHER: F[D]=36% F[N]=14% D833N Disease 5 0.748 SNPs&GO K834E Neutral 6 0.195 PhD-SNP: F[K]=29% F[E]=11% Nali=548 K834E Neutral 6 0.191 PANTHER: F[K]=32% F[E]=6% K834E Disease 5 0.770 SNPs&GO S835G Neutral 9 0.060 PhD-SNP: F[S]=22% F[G]=7% Nali=522 S835G Neutral 4 0.287 PANTHER: F[S]=27% F[G]=3% S835G Disease 1 0.541 SNPs&GO S835N Neutral 8 0.119 PhD-SNP: F[S]=22% F[N]=8% Nali=522 S835N Neutral 5 0.269 PANTHER: F[S]=27% F[N]=3% S835N Disease 5 0.758 SNPs&GO P836L Neutral 6 0.198 PhD-SNP: F[P]=43% F[L]=3% Nali=511 P836L Disease 2 0.604 PANTHER: F[P]=70% F[L]=1% P836L Disease 8 0.896 SNPs&GO P836S Neutral 7 0.165 PhD-SNP: F[P]=43% F[S]=9% Nali=511 P836S Neutral 0 0.480 PANTHER: F[P]=70% F[S]=2% P836S Disease 8 0.882 SNPs&GO P838S Neutral 7 0.157 PhD-SNP: F[P]=42% F[S]=11% Nali=511 P838S Neutral 7 0.125 PANTHER: F[P]=7% F[S]=22% P838S Neutral 2 0.377 SNPs&GO N839K Neutral 9 0.043 PhD-SNP: F[N]=20% F[K]=14% Nali=534 N839K Neutral 6 0.218 PANTHER: F[N]=30% F[K]=5% N839K Disease 0 0.512 SNPs&GO P840A Neutral 9 0.072 PhD-SNP: F[P]=36% F[A]=8% Nali=540 P840A Neutral 4 0.296 PANTHER: F[P]=60% F[A]=4% P840A Disease 3 0.628 SNPs&GO E846K Neutral 6 0.209 PhD-SNP: F[E]=32% F[K]=4% Nali=592 E846K Neutral 5 0.240 PANTHER: F[E]=35% F[K]=5% E846K Disease 6 0.824 SNPs&GO D847E Neutral 9 0.061 PhD-SNP: F[D]=28% F[E]=23% Nali=576 D847E Neutral 4 0.275 PANTHER: F[D]=60% F[E]=7% D847E Disease 5 0.744 SNPs&GO E849K Neutral 7 0.149 PhD-SNP: F[E]=31% F[K]=6% Nali=596 E849K Neutral 3 0.355 PANTHER: F[E]=55% F[K]=4% E849K Disease 8 0.888 SNPs&GO E850D Neutral 9 0.060 PhD-SNP: F[E]=37% F[D]=15% Nali=589 E850D Neutral 4 0.304 PANTHER: F[E]=58% F[D]=6% E850D Disease 5 0.733 SNPs&GO E852D Neutral 9 0.058 PhD-SNP: F[E]=39% F[D]=18% Nali=579 E852D Neutral 4 0.304 PANTHER: F[E]=58% F[D]=6% E852D Disease 5 0.728 SNPs&GO M853I Neutral 9 0.055 PhD-SNP: F[M]=16% F[I]=13% Nali=568 M853I Neutral 5 0.226 PANTHER: F[M]=45% F[I]=7% M853I Disease 2 0.616 SNPs&GO M853V Neutral 9 0.068 PhD-SNP: F[M]=16% F[V]=15% Nali=568 M853V Neutral 5 0.233 PANTHER: F[M]=45% F[V]=6% M853V Disease 3 0.651 SNPs&GO V855I Neutral 10 0.023 PhD-SNP: F[V]=22% F[I]=13% Nali=575 V855I Neutral 7 0.170 PANTHER: F[V]=52% F[I]=12% V855I Neutral 3 0.357 SNPs&GO G856S Neutral 7 0.164 PhD-SNP: F[G]=43% F[S]=12% Nali=577 G856S Disease 0 0.502 PANTHER: F[G]=74% F[S]=3% G856S Disease 7 0.828 SNPs&GO P857A Neutral 8 0.093 PhD-SNP: F[P]=39% F[A]=8% Nali=568 P857A Neutral 0 0.487 PANTHER: F[P]=73% F[A]=3% P857A Disease 7 0.865 SNPs&GO P857L Neutral 7 0.149 PhD-SNP: F[P]=39% F[L]=3% Nali=568 P857L Disease 3 0.652 PANTHER: F[P]=73% F[L]=1% P857L Disease 8 0.921 SNPs&GO P857R Neutral 6 0.193 PhD-SNP: F[P]=39% F[R]=2% Nali=568 P857R Disease 3 0.672 PANTHER: F[P]=73% F[R]=1% P857R Disease 9 0.928 SNPs&GO R858C Neutral 2 0.383 PhD-SNP: F[R]=36% F[C]=1% Nali=571 R858C Disease 6 0.818 PANTHER: F[R]=61% F[C]=0% R858C Disease 9 0.957 SNPs&GO R858H Neutral 5 0.255 PhD-SNP: F[R]=36% F[H]=1% Nali=571 R858H Disease 3 0.630 PANTHER: F[R]=61% F[H]=1% R858H Disease 9 0.925 SNPs&GO R858S Neutral 4 0.277 PhD-SNP: F[R]=36% F[S]=3% Nali=571 R858S Disease 0 0.502 PANTHER: F[R]=61% F[S]=2% R858S Disease 8 0.912 SNPs&GO P859S Neutral 7 0.174 PhD-SNP: F[P]=43% F[S]=6% Nali=559 P859S Disease 1 0.528 PANTHER: F[P]=73% F[S]=2% P859S Disease 8 0.899 SNPs&GO R860G Neutral 5 0.265 PhD-SNP: F[R]=39% F[G]=1% Nali=526 R860G Disease 1 0.567 PANTHER: F[R]=61% F[G]=1% R860G Disease 9 0.937 SNPs&GO R860P Disease 1 0.526 PhD-SNP: F[R]=39% F[P]=4% Nali=526 R860P Disease 3 0.671 PANTHER: F[R]=61% F[P]=1% R860P Disease 9 0.969 SNPs&GO R860Q Neutral 6 0.204 PhD-SNP: F[R]=39% F[Q]=8% Nali=526 R860Q Neutral 1 0.459 PANTHER: F[R]=61% F[Q]=3% R860Q Disease 8 0.900 SNPs&GO P861S Neutral 7 0.170 PhD-SNP: F[P]=35% F[S]=4% Nali=532 P861S Neutral 0 0.480 PANTHER: F[P]=70% F[S]=2% P861S Disease 8 0.879 SNPs&GO L862F Neutral 7 0.158 PhD-SNP: F[L]=41% F[F]=8% Nali=544 L862F Neutral 2 0.404 PANTHER: F[L]=59% F[F]=3% L862F Disease 6 0.798 SNPs&GO L865V Neutral 8 0.120 PhD-SNP: F[L]=32% F[V]=10% Nali=556 L865V Neutral 7 0.161 PANTHER: F[L]=43% F[V]=10% L865V Disease 2 0.585 SNPs&GO E869G Neutral 5 0.263 PhD-SNP: F[E]=37% F[G]=3% Nali=595 E869G Neutral 0 0.482 PANTHER: F[E]=58% F[G]=2% E869G Disease 8 0.910 SNPs&GO K870T Neutral 4 0.288 PhD-SNP: F[K]=38% F[T]=4% Nali=599 K870T Neutral 0 0.489 PANTHER: F[K]=56% F[T]=2% K870T Disease 8 0.908 SNPs&GO V872A Neutral 6 0.181 PhD-SNP: F[V]=24% F[A]=5% Nali=580 V872A Neutral 3 0.335 PANTHER: F[V]=52% F[A]=4% V872A Disease 6 0.796 SNPs&GO V872E Disease 1 0.543 PhD-SNP: F[V]=24% F[E]=3% Nali=580 V872E Disease 2 0.600 PANTHER: F[V]=52% F[E]=1% V872E Disease 9 0.968 SNPs&GO P873A Neutral 2 0.382 PhD-SNP: F[P]=54% F[A]=1% Nali=583 P873A Disease 7 0.865 PANTHER: F[P]=91% F[A]=1% P873A Disease 9 0.935 SNPs&GO M874I Neutral 5 0.268 PhD-SNP: F[M]=19% F[I]=20% Nali=618 M874I Neutral 5 0.226 PANTHER: F[M]=45% F[I]=7% M874I Disease 7 0.838 SNPs&GO M874V Neutral 2 0.409 PhD-SNP: F[M]=19% F[V]=6% Nali=618 M874V Neutral 5 0.233 PANTHER: F[M]=45% F[V]=6% M874V Disease 7 0.862 SNPs&GO E876A Neutral 3 0.332 PhD-SNP: F[E]=38% F[A]=6% Nali=696 E876A Neutral 6 0.223 PANTHER: F[E]=31% F[A]=4% E876A Disease 5 0.727 SNPs&GO S878I Disease 5 0.738 PhD-SNP: F[S]=39% F[I]=0% Nali=754 S878I Neutral 3 0.361 PANTHER: F[S]=27% F[I]=2% S878I Disease 9 0.960 SNPs&GO S878T Neutral 4 0.277 PhD-SNP: F[S]=39% F[T]=9% Nali=754 S878T Neutral 6 0.214 PANTHER: F[S]=27% F[T]=4% S878T Disease 6 0.801 SNPs&GO A879T Disease 0 0.511 PhD-SNP: F[A]=27% F[T]=5% Nali=821 A879T Neutral 2 0.377 PANTHER: F[A]=58% F[T]=4% A879T Disease 9 0.962 SNPs&GO A879V Disease 2 0.597 PhD-SNP: F[A]=27% F[V]=4% Nali=821 A879V Neutral 2 0.417 PANTHER: F[A]=58% F[V]=3% A879V Disease 9 0.957 SNPs&GO I882F Disease 3 0.649 PhD-SNP: F[I]=47% F[F]=2% Nali=853 I882F Neutral 0 0.476 PANTHER: F[I]=51% F[F]=2% I882F Disease 9 0.960 SNPs&GO I882V Neutral 7 0.174 PhD-SNP: F[I]=47% F[V]=13% Nali=853 I882V Neutral 7 0.160 PANTHER: F[I]=51% F[V]=14% I882V Disease 2 0.617 SNPs&GO S884R Disease 4 0.697 PhD-SNP: F[S]=45% F[R]=5% Nali=885 S884R Disease 1 0.532 PANTHER: F[S]=55% F[R]=2% S884R Disease 9 0.971 SNPs&GO N887S Disease 1 0.544 PhD-SNP: F[N]=62% F[S]=12% Nali=882 N887S Neutral 2 0.388 PANTHER: F[N]=56% F[S]=4% N887S Disease 9 0.930 SNPs&GO Q892E Neutral 6 0.216 PhD-SNP: F[Q]=3% F[E]=0% Nali=1134 Q892E Neutral 6 0.179 PANTHER: F[Q]=24% F[E]=5% Q892E Disease 4 0.715 SNPs&GO Q892H Neutral 7 0.153 PhD-SNP: F[Q]=3% F[H]=1% Nali=1134 Q892H Neutral 3 0.348 PANTHER: F[Q]=24% F[H]=1% Q892H Disease 4 0.676 SNPs&GO Q892R Neutral 7 0.165 PhD-SNP: F[Q]=3% F[R]=2% Nali=1134 Q892R Neutral 6 0.175 PANTHER: F[Q]=24% F[R]=5% Q892R Disease 2 0.624 SNPs&GO H894Y Neutral 3 0.369 PhD-SNP: F[H]=27% F[Y]=13% Nali=1125 H894Y Neutral 0 0.494 PANTHER: F[H]=61% F[Y]=2% H894Y Disease 8 0.921 SNPs&GO R895C Disease 5 0.735 PhD-SNP: F[R]=26% F[C]=0% Nali=1128 R895C Disease 5 0.728 PANTHER: F[R]=35% F[C]=0% R895C Disease 9 0.956 SNPs&GO R895H Neutral 1 0.428 PhD-SNP: F[R]=26% F[H]=2% Nali=1128 R895H Neutral 2 0.383 PANTHER: F[R]=35% F[H]=2% R895H Disease 8 0.878 SNPs&GO I896M Disease 1 0.529 PhD-SNP: F[I]=56% F[M]=5% Nali=1124 I896M Neutral 2 0.415 PANTHER: F[I]=49% F[M]=2% I896M Disease 8 0.900 SNPs&GO V897D Disease 8 0.900 PhD-SNP: F[V]=55% F[D]=0% Nali=1122 V897D Disease 3 0.662 PANTHER: F[V]=52% F[D]=0% V897D Disease 10 0.985 SNPs&GO V897I Neutral 5 0.242 PhD-SNP: F[V]=55% F[I]=23% Nali=1122 V897I Neutral 7 0.170 PANTHER: F[V]=52% F[I]=12% V897I Disease 6 0.802 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. ** ** ** **********************************************************************************************