Meta-SNP: Meta-predictor of disease causing variants Cite: Capriotti et al. BMC Genomics 2013. Suppl 3:S2. WEB: http://snps.biofold.org/meta-snp Sequence File: SP.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile M1I NA Neutral Disease Neutral Neutral 5 F[M]=100% F[I]=0% Nali=4 - 0.192 0.030 0.315 0.255 M1V NA Neutral Disease Neutral Neutral 5 F[M]=100% F[V]=0% Nali=4 - 0.160 0.020 0.360 0.232 A2G NA Neutral Disease Neutral Neutral 5 F[A]=100% F[G]=0% Nali=4 - 0.175 0.000 0.470 0.229 A2V NA Neutral Disease Neutral Neutral 5 F[A]=100% F[V]=0% Nali=4 - 0.178 0.000 0.490 0.232 A3T NA Neutral Neutral Neutral Neutral 8 F[A]=83% F[T]=0% Nali=5 - 0.182 0.090 0.310 0.119 A3V NA Neutral Neutral Neutral Neutral 8 F[A]=83% F[V]=0% Nali=5 - 0.172 0.090 0.320 0.121 A4G NA Neutral Neutral Neutral Neutral 9 F[A]=71% F[G]=14% Nali=6 - 0.090 0.440 0.340 0.043 A4S NA Neutral Neutral Neutral Neutral 8 F[A]=71% F[S]=0% Nali=6 - 0.232 0.400 0.375 0.125 A4T NA Neutral Neutral Neutral Neutral 8 F[A]=71% F[T]=0% Nali=6 - 0.179 0.190 0.405 0.119 G5A NA Neutral Neutral Neutral Neutral 9 F[G]=43% F[A]=0% Nali=6 - 0.094 1.000 0.130 0.074 G5E NA Neutral Neutral Disease Neutral 8 F[G]=43% F[E]=0% Nali=6 - 0.222 0.100 0.530 0.108 G5R NA Neutral Neutral Neutral Neutral 8 F[G]=43% F[R]=0% Nali=6 - 0.242 0.120 0.370 0.107 G6A NA Neutral Neutral Neutral Neutral 8 F[G]=56% F[A]=0% Nali=8 - 0.127 0.250 0.480 0.090 G6S NA Neutral Neutral Neutral Neutral 9 F[G]=56% F[S]=11% Nali=8 - 0.117 0.390 0.425 0.067 A7P Neutral Disease Neutral Disease Disease 2 F[A]=90% F[P]=0% Nali=9 0.453 0.664 0.100 0.665 0.593 R8L Neutral Disease Neutral Disease Disease 3 F[R]=100% F[L]=0% Nali=10 0.429 0.798 0.210 0.545 0.641 R8P Disease Disease Neutral Disease Disease 4 F[R]=100% F[P]=0% Nali=10 0.606 0.790 0.130 0.790 0.707 R8W Disease Disease Disease Disease Disease 4 F[R]=100% F[W]=0% Nali=10 0.844 0.727 0.030 0.745 0.723 L10R Neutral Disease Neutral Disease Disease 3 F[L]=87% F[R]=0% Nali=14 0.457 0.790 0.070 0.670 0.655 R11C Neutral Disease Neutral Disease Disease 2 F[R]=87% F[C]=0% Nali=14 0.161 0.679 0.080 0.595 0.594 R11H Neutral Disease Neutral Neutral Neutral 1 F[R]=87% F[H]=0% Nali=14 0.450 0.587 0.200 0.495 0.458 R11P Neutral Disease Neutral Disease Disease 4 F[R]=87% F[P]=0% Nali=14 0.460 0.808 0.230 0.710 0.678 R11S Neutral Disease Neutral Disease Disease 1 F[R]=87% F[S]=0% Nali=14 0.248 0.696 0.350 0.525 0.539 A12P Neutral Disease Neutral Disease Neutral 2 F[A]=50% F[P]=6% Nali=15 0.486 0.529 0.080 0.665 0.401 A12V Neutral Neutral Neutral Neutral Neutral 8 F[A]=50% F[V]=13% Nali=15 0.160 0.153 0.370 0.290 0.078 A13S Neutral Neutral Neutral Disease Neutral 7 F[A]=82% F[S]=6% Nali=16 0.160 0.393 0.230 0.505 0.136 A13T Neutral Neutral Neutral Disease Neutral 6 F[A]=82% F[T]=0% Nali=16 0.286 0.420 0.180 0.525 0.199 A13V Neutral Neutral Neutral Disease Neutral 7 F[A]=82% F[V]=6% Nali=16 0.403 0.325 0.100 0.550 0.149 S14F Neutral Neutral Disease Disease Neutral 7 F[S]=31% F[F]=0% Nali=15 0.439 0.344 0.040 0.585 0.174 L17F Disease Neutral Neutral Neutral Neutral 6 F[L]=53% F[F]=0% Nali=14 0.508 0.422 0.400 0.440 0.176 G18C Disease Disease Neutral Neutral Disease 0 F[G]=36% F[C]=0% Nali=13 0.802 0.559 0.130 0.465 0.505 G18R Neutral Disease Neutral Neutral Disease 0 F[G]=36% F[R]=0% Nali=13 0.330 0.547 0.490 0.390 0.506 G19A Neutral Neutral Neutral Neutral Neutral 5 F[G]=43% F[A]=7% Nali=13 0.140 0.269 1.000 0.200 0.246 G19C Disease Disease Neutral Disease Disease 1 F[G]=43% F[C]=0% Nali=13 0.560 0.578 0.080 0.515 0.543 G19D Neutral Neutral Neutral Neutral Neutral 6 F[G]=43% F[D]=14% Nali=13 0.123 0.472 0.570 0.390 0.202 G19R Neutral Neutral Neutral Disease Neutral 7 F[G]=43% F[R]=7% Nali=13 0.108 0.431 0.400 0.565 0.130 G19S Neutral Neutral Neutral Neutral Neutral 9 F[G]=43% F[S]=14% Nali=13 0.141 0.206 0.670 0.405 0.065 G19V Neutral Disease Neutral Neutral Neutral 0 F[G]=43% F[V]=0% Nali=13 0.226 0.511 0.320 0.345 0.477 P20L Neutral Neutral Neutral Neutral Neutral 7 F[P]=38% F[L]=15% Nali=12 0.340 0.233 0.270 0.280 0.137 P20R Neutral Neutral Neutral Disease Neutral 7 F[P]=38% F[R]=0% Nali=12 0.146 0.399 0.100 0.540 0.143 A21G Disease Neutral Neutral Neutral Neutral 8 F[A]=44% F[G]=13% Nali=15 0.502 0.191 0.380 0.260 0.112 A21P Disease Disease Neutral Neutral Disease 0 F[A]=44% F[P]=0% Nali=15 0.597 0.674 0.290 0.300 0.514 A21V Neutral Neutral Neutral Neutral Neutral 7 F[A]=44% F[V]=0% Nali=15 0.335 0.336 0.310 0.335 0.164 G22S Neutral Neutral Neutral Neutral Neutral 5 F[G]=44% F[S]=6% Nali=15 0.124 0.276 0.680 0.235 0.241 R23G Disease Disease Neutral Disease Disease 2 F[R]=68% F[G]=0% Nali=18 0.614 0.634 0.410 0.620 0.610 R23L Neutral Disease Neutral Disease Disease 3 F[R]=68% F[L]=0% Nali=18 0.493 0.777 0.720 0.595 0.642 R23P Disease Disease Neutral Neutral Disease 4 F[R]=68% F[P]=0% Nali=18 0.687 0.839 0.340 0.500 0.702 R23Q Neutral Disease Neutral Neutral Neutral 0 F[R]=68% F[Q]=0% Nali=18 0.443 0.631 0.550 0.385 0.492 R23W Disease Disease Neutral Disease Disease 4 F[R]=68% F[W]=0% Nali=18 0.871 0.740 0.120 0.635 0.717 L25P Disease Disease Neutral Neutral Disease 3 F[L]=59% F[P]=0% Nali=16 0.559 0.803 0.200 0.410 0.634 H26P Neutral Neutral Neutral Neutral Neutral 7 F[H]=17% F[P]=6% Nali=17 0.123 0.444 0.210 0.430 0.167 H27D Neutral Neutral Neutral Disease Neutral 7 F[H]=17% F[D]=0% Nali=17 0.194 0.323 0.220 0.545 0.164 H27Y Neutral Neutral Neutral Neutral Neutral 9 F[H]=17% F[Y]=17% Nali=17 0.165 0.124 1.000 0.395 0.066 A28D Neutral Neutral Neutral Disease Neutral 1 F[A]=35% F[D]=0% Nali=19 0.463 0.481 0.090 0.630 0.429 A28G Neutral Neutral Neutral Neutral Neutral 8 F[A]=35% F[G]=5% Nali=19 0.249 0.137 0.140 0.495 0.078 A28P Neutral Neutral Neutral Neutral Neutral 7 F[A]=35% F[P]=10% Nali=19 0.211 0.293 0.400 0.275 0.146 G29R Neutral Neutral Neutral Neutral Neutral 8 F[G]=43% F[R]=14% Nali=20 0.114 0.225 0.450 0.445 0.106 S30F Disease Disease Neutral Disease Disease 1 F[S]=50% F[F]=0% Nali=23 0.566 0.503 0.180 0.530 0.559 S30P Neutral Neutral Neutral Neutral Neutral 6 F[S]=50% F[P]=21% Nali=23 0.145 0.315 0.280 0.250 0.219 R31C Disease Disease Neutral Disease Disease 3 F[R]=44% F[C]=0% Nali=24 0.556 0.660 0.180 0.600 0.670 R31H Neutral Neutral Neutral Neutral Neutral 3 F[R]=44% F[H]=0% Nali=24 0.335 0.477 0.540 0.480 0.337 A32S Neutral Neutral Neutral Neutral Neutral 8 F[A]=48% F[S]=20% Nali=24 0.196 0.107 0.580 0.175 0.076 A32T Neutral Neutral Neutral Neutral Neutral 7 F[A]=48% F[T]=0% Nali=24 0.126 0.270 0.290 0.395 0.138 S34T Neutral Neutral Neutral Neutral Neutral 9 F[S]=48% F[T]=17% Nali=22 0.141 0.107 1.000 0.225 0.067 S35G Neutral Neutral Neutral Neutral Neutral 8 F[S]=29% F[G]=4% Nali=23 0.153 0.162 0.600 0.230 0.116 S35R Neutral Neutral Neutral Neutral Neutral 8 F[S]=29% F[R]=8% Nali=23 0.132 0.229 0.190 0.390 0.101 G36A Neutral Neutral Neutral Neutral Neutral 8 F[G]=30% F[A]=17% Nali=22 0.146 0.105 1.000 0.165 0.078 G36D Neutral Neutral Neutral Disease Neutral 5 F[G]=30% F[D]=0% Nali=22 0.360 0.447 0.610 0.550 0.234 G36S Neutral Neutral Neutral Neutral Neutral 9 F[G]=30% F[S]=13% Nali=22 0.189 0.114 0.850 0.335 0.070 L37P Neutral Disease Neutral Neutral Neutral 0 F[L]=42% F[P]=0% Nali=23 0.163 0.642 0.300 0.210 0.494 R39K Neutral Neutral Neutral Neutral Neutral 9 F[R]=54% F[K]=8% Nali=23 0.175 0.194 0.270 0.480 0.070 R41P Neutral Neutral Neutral Neutral Neutral 5 F[R]=40% F[P]=10% Nali=29 0.377 0.468 0.390 0.455 0.229 R41Q Neutral Neutral Neutral Disease Neutral 8 F[R]=40% F[Q]=10% Nali=29 0.278 0.176 0.620 0.550 0.087 R41W Neutral Neutral Neutral Disease Neutral 7 F[R]=40% F[W]=3% Nali=29 0.195 0.315 0.060 0.595 0.151 G42E Neutral Neutral Neutral Disease Neutral 7 F[G]=23% F[E]=0% Nali=30 0.364 0.198 0.300 0.560 0.162 G42R Neutral Neutral Neutral Neutral Neutral 9 F[G]=23% F[R]=10% Nali=30 0.422 0.102 0.370 0.420 0.063 P43R Neutral Neutral Neutral Neutral Neutral 6 F[P]=56% F[R]=0% Nali=33 0.450 0.199 0.610 0.405 0.198 P43S Neutral Neutral Neutral Neutral Neutral 7 F[P]=56% F[S]=3% Nali=33 0.245 0.177 0.760 0.405 0.139 S46G Neutral Neutral Neutral Disease Neutral 8 F[S]=30% F[G]=7% Nali=42 0.251 0.111 0.390 0.510 0.104 S46I Disease Neutral Neutral Neutral Neutral 4 F[S]=30% F[I]=5% Nali=42 0.573 0.222 0.210 0.425 0.299 S46N Neutral Neutral Neutral Disease Neutral 8 F[S]=30% F[N]=7% Nali=42 0.255 0.120 0.480 0.520 0.115 S46R Neutral Neutral Neutral Neutral Neutral 5 F[S]=30% F[R]=2% Nali=42 0.348 0.216 0.520 0.500 0.237 S46T Neutral Neutral Neutral Neutral Neutral 9 F[S]=30% F[T]=16% Nali=42 0.199 0.049 0.580 0.270 0.064 A47T Neutral Neutral Neutral Neutral Neutral 9 F[A]=21% F[T]=11% Nali=46 0.160 0.038 0.440 0.215 0.068 A47V Neutral Neutral Neutral Neutral Neutral 8 F[A]=21% F[V]=2% Nali=46 0.203 0.071 0.490 0.450 0.090 E48Q Neutral Neutral Neutral Neutral Neutral 9 F[E]=15% F[Q]=6% Nali=46 0.214 0.063 0.590 0.180 0.064 A49G Neutral Neutral Neutral Neutral Neutral 7 F[A]=40% F[G]=2% Nali=49 0.338 0.142 0.340 0.435 0.143 S50T Neutral Neutral Neutral Neutral Neutral 8 F[S]=29% F[T]=18% Nali=55 0.227 0.024 0.770 0.210 0.079 R51G Neutral Neutral Neutral Disease Neutral 3 F[R]=72% F[G]=0% Nali=59 0.463 0.446 0.370 0.655 0.370 R51L Neutral Disease Neutral Disease Disease 3 F[R]=72% F[L]=0% Nali=59 0.336 0.551 0.340 0.635 0.648 R51Q Neutral Neutral Neutral Neutral Neutral 4 F[R]=72% F[Q]=2% Nali=59 0.318 0.384 0.590 0.435 0.311 R51W Disease Neutral Disease Disease Disease 3 F[R]=72% F[W]=0% Nali=59 0.842 0.485 0.020 0.735 0.662 S52P Neutral Neutral Neutral Neutral Neutral 7 F[S]=29% F[P]=13% Nali=62 0.232 0.150 0.320 0.215 0.138 L53P Disease Disease Neutral Neutral Disease 1 F[L]=40% F[P]=0% Nali=61 0.717 0.538 0.230 0.430 0.525 S54R Neutral Neutral Neutral Neutral Neutral 7 F[S]=55% F[R]=0% Nali=63 0.421 0.124 0.450 0.360 0.156 V55L Neutral Neutral Neutral Neutral Neutral 8 F[V]=24% F[L]=17% Nali=65 0.249 0.032 0.650 0.285 0.077 V55M Disease Neutral Neutral Neutral Neutral 8 F[V]=24% F[M]=2% Nali=65 0.524 0.047 0.220 0.185 0.087 S56L Disease Neutral Neutral Disease Neutral 7 F[S]=38% F[L]=1% Nali=72 0.603 0.106 0.070 0.560 0.135 S56W Disease Neutral Disease Disease Neutral 3 F[S]=38% F[W]=0% Nali=72 0.911 0.196 0.000 0.700 0.374 A57E Neutral Neutral Neutral Neutral Neutral 7 F[A]=42% F[E]=1% Nali=73 0.439 0.143 1.000 0.445 0.158 A57V Neutral Neutral Neutral Neutral Neutral 8 F[A]=42% F[V]=3% Nali=73 0.395 0.065 0.380 0.390 0.091 R58G Neutral Neutral Neutral Disease Neutral 5 F[R]=27% F[G]=4% Nali=74 0.257 0.210 0.500 0.535 0.242 R58L Neutral Neutral Neutral Neutral Neutral 6 F[R]=27% F[L]=4% Nali=74 0.333 0.194 0.780 0.455 0.209 R58P Disease Neutral Neutral Neutral Neutral 1 F[R]=27% F[P]=5% Nali=74 0.559 0.369 0.330 0.410 0.462 A59D Neutral Neutral Neutral Neutral Neutral 5 F[A]=31% F[D]=4% Nali=74 0.186 0.257 0.640 0.340 0.264 A59S Neutral Neutral Neutral Neutral Neutral 8 F[A]=31% F[S]=13% Nali=74 0.186 0.059 0.740 0.160 0.081 A59T Neutral Neutral Neutral Neutral Neutral 8 F[A]=31% F[T]=5% Nali=74 0.368 0.046 0.570 0.205 0.080 A59V Disease Neutral Neutral Neutral Neutral 8 F[A]=31% F[V]=5% Nali=74 0.501 0.062 0.270 0.455 0.084 R60G Neutral Neutral Neutral Disease Neutral 3 F[R]=25% F[G]=1% Nali=79 0.168 0.318 0.360 0.590 0.332 R60Q Neutral Neutral Neutral Neutral Neutral 7 F[R]=25% F[Q]=6% Nali=79 0.216 0.134 0.410 0.335 0.145 R60W Neutral Neutral Neutral Neutral Neutral 3 F[R]=25% F[W]=1% Nali=79 0.439 0.284 0.170 0.375 0.332 S61G Neutral Neutral Neutral Neutral Neutral 6 F[S]=26% F[G]=2% Nali=102 0.248 0.145 0.350 0.305 0.181 S61R Neutral Neutral Neutral Neutral Neutral 6 F[S]=26% F[R]=1% Nali=102 0.348 0.168 0.450 0.425 0.221 S61T Neutral Neutral Neutral Neutral Neutral 8 F[S]=26% F[T]=5% Nali=102 0.355 0.053 0.520 0.245 0.100 S62G Disease Neutral Neutral Neutral Neutral 3 F[S]=44% F[G]=5% Nali=107 0.574 0.263 0.220 0.470 0.363 S62N Neutral Neutral Neutral Neutral Neutral 7 F[S]=44% F[N]=8% Nali=107 0.457 0.181 0.380 0.320 0.163 S63L Disease Neutral Neutral Neutral Neutral 1 F[S]=32% F[L]=0% Nali=117 0.559 0.296 0.070 0.420 0.453 S63P Neutral Neutral Neutral Neutral Neutral 4 F[S]=32% F[P]=23% Nali=117 0.212 0.241 1.000 0.110 0.302 E64G Neutral Neutral Neutral Neutral Neutral 4 F[E]=34% F[G]=13% Nali=121 0.227 0.261 0.850 0.265 0.302 D65G Disease Disease Neutral Neutral Disease 1 F[D]=33% F[G]=5% Nali=142 0.750 0.512 0.150 0.395 0.530 D65V Disease Neutral Disease Neutral Disease 1 F[D]=33% F[V]=2% Nali=142 0.891 0.490 0.020 0.495 0.557 D65Y Disease Disease Disease Disease Disease 2 F[D]=33% F[Y]=0% Nali=142 0.922 0.590 0.000 0.525 0.596 K66E Neutral Neutral Neutral Neutral Neutral 3 F[K]=35% F[E]=27% Nali=160 0.301 0.236 1.000 0.190 0.346 I67T Disease Disease Neutral Neutral Disease 1 F[I]=32% F[T]=0% Nali=193 0.775 0.567 0.490 0.170 0.529 I67V Neutral Neutral Neutral Neutral Neutral 7 F[I]=32% F[V]=48% Nali=193 0.169 0.085 1.000 0.090 0.161 T68A Neutral Neutral Neutral Neutral Neutral 1 F[T]=30% F[A]=0% Nali=201 0.469 0.266 0.460 0.270 0.428 T68I Disease Neutral Neutral Neutral Disease 2 F[T]=30% F[I]=0% Nali=201 0.694 0.377 0.750 0.130 0.608 T68K Neutral Neutral Neutral Neutral Neutral 1 F[T]=30% F[K]=13% Nali=201 0.339 0.311 0.360 0.310 0.429 T68S Neutral Neutral Neutral Neutral Neutral 4 F[T]=30% F[S]=7% Nali=201 0.467 0.210 0.430 0.270 0.325 V69G Disease Disease Disease Disease Disease 5 F[V]=60% F[G]=0% Nali=204 0.955 0.782 0.030 0.510 0.768 H70Q Neutral Neutral Neutral Neutral Neutral 2 F[H]=17% F[Q]=1% Nali=204 0.486 0.296 0.290 0.430 0.390 H70R Neutral Neutral Neutral Neutral Neutral 2 F[H]=17% F[R]=2% Nali=204 0.489 0.350 0.350 0.460 0.391 I72L Neutral Disease Neutral Neutral Neutral 0 F[I]=48% F[L]=4% Nali=227 0.419 0.541 0.320 0.415 0.489 I72T Disease Disease Neutral Neutral Disease 0 F[I]=48% F[T]=4% Nali=227 0.728 0.653 0.590 0.300 0.502 N73I Disease Neutral Neutral Neutral Neutral 1 F[N]=19% F[I]=1% Nali=228 0.761 0.289 0.230 0.380 0.427 N73K Neutral Neutral Neutral Neutral Neutral 1 F[N]=19% F[K]=3% Nali=228 0.438 0.317 0.610 0.370 0.427 R74C Disease Disease Disease Disease Disease 4 F[R]=27% F[C]=0% Nali=228 0.947 0.535 0.050 0.545 0.698 R74G Disease Disease Neutral Disease Disease 2 F[R]=27% F[G]=0% Nali=228 0.816 0.506 0.140 0.525 0.613 R74H Disease Neutral Neutral Neutral Neutral 2 F[R]=27% F[H]=6% Nali=228 0.583 0.263 0.070 0.300 0.395 R74S Disease Neutral Neutral Neutral Neutral 1 F[R]=27% F[S]=4% Nali=228 0.715 0.335 0.230 0.420 0.458 D75G Disease Disease Neutral Neutral Disease 5 F[D]=67% F[G]=0% Nali=226 0.806 0.812 0.740 0.455 0.737 G76S Disease Disease Neutral Neutral Disease 4 F[G]=89% F[S]=0% Nali=227 0.812 0.826 0.070 0.405 0.718 T78A Neutral Neutral Neutral Neutral Neutral 2 F[T]=13% F[A]=3% Nali=226 0.466 0.246 0.400 0.305 0.413 T78P Disease Disease Neutral Neutral Disease 1 F[T]=13% F[P]=1% Nali=226 0.703 0.661 0.130 0.320 0.526 T80K Neutral Neutral Neutral Neutral Neutral 1 F[T]=38% F[K]=13% Nali=228 0.243 0.452 0.620 0.275 0.434 T81N Disease Neutral Disease Neutral Disease 2 F[T]=9% F[N]=0% Nali=228 0.703 0.431 0.010 0.450 0.599 K82E Neutral Neutral Neutral Neutral Neutral 6 F[K]=23% F[E]=26% Nali=228 0.351 0.159 1.000 0.200 0.177 G83R Disease Neutral Disease Disease Disease 5 F[G]=33% F[R]=0% Nali=228 0.899 0.493 0.020 0.710 0.743 K84R Neutral Neutral Neutral Neutral Neutral 3 F[K]=35% F[R]=3% Nali=228 0.410 0.215 0.270 0.220 0.333 V85A Disease Neutral Neutral Neutral Neutral 1 F[V]=38% F[A]=5% Nali=228 0.652 0.306 0.690 0.335 0.426 D87V Disease Disease Neutral Neutral Disease 2 F[D]=53% F[V]=0% Nali=229 0.882 0.674 0.050 0.480 0.584 D91E Neutral Neutral Neutral Neutral Neutral 2 F[D]=41% F[E]=31% Nali=226 0.237 0.236 0.730 0.125 0.390 D91G Disease Disease Disease Neutral Disease 1 F[D]=41% F[G]=0% Nali=226 0.636 0.675 0.010 0.485 0.542 D91H Neutral Disease Neutral Neutral Neutral 0 F[D]=41% F[H]=3% Nali=226 0.450 0.567 0.060 0.295 0.484 D91V Disease Disease Disease Neutral Disease 1 F[D]=41% F[V]=0% Nali=226 0.660 0.700 0.010 0.480 0.548 V92A Disease Neutral Neutral Neutral Neutral 2 F[V]=36% F[A]=15% Nali=226 0.565 0.307 0.540 0.245 0.421 V92F Disease Disease Disease Disease Disease 2 F[V]=36% F[F]=0% Nali=226 0.720 0.642 0.010 0.510 0.590 V92I Neutral Neutral Neutral Neutral Neutral 6 F[V]=36% F[I]=27% Nali=226 0.319 0.089 0.700 0.135 0.192 V94A Neutral Neutral Neutral Neutral Neutral 1 F[V]=18% F[A]=1% Nali=228 0.312 0.412 0.580 0.295 0.439 V94L Neutral Neutral Neutral Neutral Neutral 2 F[V]=18% F[L]=4% Nali=228 0.213 0.339 0.700 0.135 0.416 E95A Neutral Neutral Neutral Neutral Neutral 5 F[E]=19% F[A]=20% Nali=230 0.276 0.194 0.800 0.320 0.271 E95K Neutral Neutral Neutral Neutral Neutral 1 F[E]=19% F[K]=7% Nali=230 0.305 0.387 0.540 0.270 0.435 N96D Disease Disease Disease Disease Disease 1 F[N]=51% F[D]=2% Nali=231 0.508 0.631 0.050 0.655 0.544 D99G Neutral Disease Neutral Disease Disease 2 F[D]=49% F[G]=2% Nali=215 0.354 0.805 0.070 0.540 0.593 D99V Disease Disease Neutral Neutral Disease 6 F[D]=49% F[V]=0% Nali=215 0.917 0.839 0.120 0.475 0.781 D99Y Disease Disease Disease Disease Disease 7 F[D]=49% F[Y]=0% Nali=215 0.943 0.878 0.030 0.660 0.828 I100V Neutral Neutral Disease Disease Neutral 1 F[I]=29% F[V]=8% Nali=228 0.295 0.303 0.030 0.530 0.428 G102D Disease Disease Disease Disease Disease 6 F[G]=91% F[D]=0% Nali=227 0.865 0.913 0.000 0.735 0.818 G102S Disease Disease Disease Disease Disease 5 F[G]=91% F[S]=0% Nali=227 0.680 0.882 0.010 0.625 0.739 G104V Disease Disease Disease Disease Disease 2 F[G]=76% F[V]=4% Nali=82 0.977 0.668 0.000 0.755 0.622 A105E Disease Disease Neutral Disease Disease 5 F[A]=91% F[E]=3% Nali=231 0.957 0.853 0.160 0.565 0.747 A105T Disease Disease Neutral Neutral Disease 2 F[A]=91% F[T]=5% Nali=231 0.883 0.759 0.080 0.440 0.622 A105V Disease Disease Disease Disease Disease 6 F[A]=91% F[V]=0% Nali=231 0.924 0.740 0.040 0.690 0.793 C106R Disease Disease Disease Disease Disease 8 F[C]=100% F[R]=0% Nali=231 0.981 0.945 0.000 0.895 0.902 E107D Disease Disease Neutral Neutral Disease 0 F[E]=63% F[D]=3% Nali=231 0.732 0.585 0.800 0.315 0.503 T109N Disease Disease Neutral Neutral Disease 0 F[T]=23% F[N]=0% Nali=231 0.772 0.575 0.080 0.305 0.508 C112F Disease Disease Disease Disease Disease 8 F[C]=100% F[F]=0% Nali=231 0.985 0.952 0.000 0.875 0.915 C112Y Disease Disease Disease Disease Disease 8 F[C]=100% F[Y]=0% Nali=231 0.988 0.956 0.010 0.875 0.915 T114A Disease Disease Disease Disease Disease 5 F[T]=100% F[A]=0% Nali=230 0.846 0.742 0.010 0.685 0.743 H116Y Disease Disease Disease Disease Disease 6 F[H]=100% F[Y]=0% Nali=231 0.949 0.912 0.000 0.695 0.818 L117P Disease Disease Disease Neutral Disease 6 F[L]=22% F[P]=0% Nali=231 0.936 0.874 0.000 0.500 0.803 I118V Disease Neutral Neutral Neutral Disease 0 F[I]=63% F[V]=9% Nali=232 0.631 0.380 0.080 0.255 0.514 E120A Neutral Neutral Neutral Neutral Neutral 2 F[E]=29% F[A]=3% Nali=232 0.392 0.291 0.080 0.455 0.419 H122Y Disease Neutral Disease Disease Neutral 2 F[H]=8% F[Y]=0% Nali=232 0.674 0.262 0.020 0.505 0.385 I123M Neutral Neutral Neutral Neutral Neutral 6 F[I]=9% F[M]=6% Nali=230 0.335 0.157 0.260 0.155 0.195 I123T Neutral Neutral Neutral Neutral Neutral 2 F[I]=9% F[T]=3% Nali=230 0.450 0.255 0.370 0.345 0.390 I123V Neutral Neutral Neutral Neutral Neutral 7 F[I]=9% F[V]=8% Nali=230 0.268 0.112 0.510 0.300 0.152 Y124C Disease Disease Disease Disease Disease 6 F[Y]=46% F[C]=0% Nali=228 0.934 0.695 0.010 0.650 0.790 Y124H Disease Disease Disease Disease Disease 4 F[Y]=46% F[H]=0% Nali=228 0.820 0.646 0.030 0.640 0.718 K126R Neutral Neutral Neutral Neutral Neutral 2 F[K]=52% F[R]=10% Nali=232 0.346 0.284 0.340 0.220 0.416 L127S Disease Disease Disease Disease Disease 6 F[L]=74% F[S]=0% Nali=232 0.964 0.682 0.030 0.680 0.801 D128A Neutral Neutral Neutral Neutral Neutral 3 F[D]=13% F[A]=3% Nali=232 0.290 0.221 0.220 0.325 0.351 A129S Neutral Neutral Neutral Neutral Neutral 5 F[A]=13% F[S]=1% Nali=232 0.477 0.183 0.310 0.135 0.256 I130T Disease Neutral Neutral Neutral Disease 1 F[I]=14% F[T]=0% Nali=232 0.586 0.383 0.070 0.405 0.571 I130V Neutral Neutral Neutral Neutral Neutral 5 F[I]=14% F[V]=2% Nali=232 0.274 0.183 0.120 0.360 0.251 T131S Neutral Neutral Neutral Neutral Neutral 7 F[T]=24% F[S]=22% Nali=232 0.314 0.071 1.000 0.180 0.148 D132E Neutral Neutral Neutral Neutral Neutral 4 F[D]=60% F[E]=36% Nali=232 0.321 0.186 0.550 0.235 0.277 D132N Disease Disease Disease Disease Disease 3 F[D]=60% F[N]=0% Nali=232 0.747 0.625 0.010 0.540 0.658 D132V Disease Disease Disease Disease Disease 6 F[D]=60% F[V]=0% Nali=232 0.939 0.731 0.000 0.575 0.779 E133A Disease Neutral Neutral Neutral Neutral 1 F[E]=40% F[A]=3% Nali=231 0.582 0.321 0.230 0.430 0.436 E133K Neutral Neutral Neutral Neutral Neutral 1 F[E]=40% F[K]=7% Nali=231 0.450 0.435 0.150 0.465 0.457 N135Y Disease Neutral Disease Neutral Disease 3 F[N]=34% F[Y]=0% Nali=231 0.763 0.384 0.030 0.495 0.628 M137L Neutral Disease Neutral Neutral Neutral 1 F[M]=85% F[L]=11% Nali=231 0.443 0.558 0.170 0.400 0.453 M137V Disease Disease Disease Disease Disease 0 F[M]=85% F[V]=2% Nali=231 0.685 0.589 0.030 0.575 0.518 L138P Disease Disease Disease Disease Disease 7 F[L]=97% F[P]=0% Nali=232 0.968 0.849 0.000 0.775 0.852 L138V Disease Disease Disease Disease Disease 4 F[L]=97% F[V]=0% Nali=232 0.812 0.565 0.000 0.675 0.686 D139A Disease Disease Disease Neutral Disease 3 F[D]=93% F[A]=1% Nali=232 0.859 0.792 0.020 0.500 0.661 D139H Disease Disease Disease Disease Disease 5 F[D]=93% F[H]=0% Nali=232 0.917 0.815 0.000 0.560 0.768 D139N Disease Disease Disease Neutral Disease 3 F[D]=93% F[N]=0% Nali=232 0.779 0.784 0.000 0.500 0.646 D139V Disease Disease Disease Disease Disease 6 F[D]=93% F[V]=0% Nali=232 0.948 0.848 0.000 0.515 0.791 D139Y Disease Disease Disease Disease Disease 6 F[D]=93% F[Y]=0% Nali=232 0.961 0.870 0.000 0.560 0.807 A141V Disease Disease Disease Disease Disease 2 F[A]=96% F[V]=0% Nali=232 0.917 0.627 0.030 0.520 0.616 Y142H Disease Disease Neutral Neutral Disease 0 F[Y]=24% F[H]=0% Nali=232 0.768 0.533 0.220 0.325 0.513 G143A Neutral Neutral Neutral Neutral Neutral 1 F[G]=54% F[A]=3% Nali=232 0.336 0.411 0.120 0.320 0.446 L144P Disease Disease Neutral Neutral Disease 4 F[L]=75% F[P]=4% Nali=232 0.970 0.825 0.090 0.320 0.686 L144Q Disease Disease Disease Disease Disease 5 F[L]=75% F[Q]=0% Nali=232 0.959 0.802 0.040 0.580 0.774 L144V Disease Neutral Neutral Neutral Neutral 2 F[L]=75% F[V]=12% Nali=232 0.733 0.298 0.160 0.245 0.424 T145A Disease Disease Neutral Neutral Disease 0 F[T]=58% F[A]=1% Nali=232 0.699 0.540 0.120 0.420 0.505 T145I Disease Disease Disease Disease Disease 3 F[T]=58% F[I]=0% Nali=232 0.849 0.669 0.030 0.540 0.659 D146E Neutral Neutral Neutral Neutral Neutral 7 F[D]=30% F[E]=47% Nali=232 0.210 0.095 1.000 0.165 0.169 R147G Disease Neutral Disease Disease Disease 1 F[R]=4% F[G]=0% Nali=232 0.614 0.380 0.040 0.545 0.528 R147S Neutral Neutral Neutral Neutral Neutral 3 F[R]=4% F[S]=1% Nali=232 0.473 0.230 0.060 0.380 0.349 R149Q Disease Disease Disease Disease Disease 8 F[R]=100% F[Q]=0% Nali=232 0.944 0.883 0.000 0.780 0.892 R149W Disease Disease Disease Disease Disease 8 F[R]=100% F[W]=0% Nali=232 0.990 0.913 0.000 0.780 0.914 G151A Disease Disease Neutral Neutral Disease 2 F[G]=79% F[A]=5% Nali=232 0.932 0.520 0.110 0.410 0.577 G151S Disease Neutral Neutral Neutral Disease 1 F[G]=79% F[S]=16% Nali=232 0.944 0.421 0.360 0.380 0.568 I154M Disease Disease Disease Disease Disease 3 F[I]=56% F[M]=0% Nali=231 0.824 0.610 0.010 0.540 0.659 I154N Disease Disease Disease Disease Disease 6 F[I]=56% F[N]=0% Nali=231 0.952 0.825 0.000 0.650 0.816 C155F Neutral Neutral Neutral Neutral Neutral 2 F[C]=11% F[F]=1% Nali=230 0.487 0.353 0.710 0.255 0.402 C155S Neutral Neutral Neutral Neutral Neutral 2 F[C]=11% F[S]=0% Nali=230 0.458 0.275 0.460 0.385 0.409 C155Y Disease Neutral Neutral Neutral Neutral 1 F[C]=11% F[Y]=1% Nali=230 0.560 0.398 1.000 0.380 0.465 L156V Disease Neutral Neutral Neutral Neutral 2 F[L]=48% F[V]=16% Nali=230 0.631 0.240 0.700 0.280 0.385 T157A Neutral Neutral Neutral Neutral Neutral 1 F[T]=52% F[A]=1% Nali=230 0.456 0.421 0.250 0.335 0.448 K158E Disease Neutral Neutral Neutral Disease 1 F[K]=52% F[E]=17% Nali=230 0.793 0.479 0.460 0.200 0.550 K158T Disease Disease Neutral Neutral Disease 1 F[K]=52% F[T]=0% Nali=230 0.849 0.568 0.070 0.245 0.548 S159P Disease Disease Neutral Neutral Neutral 0 F[S]=10% F[P]=0% Nali=230 0.545 0.643 0.090 0.270 0.492 M160V Disease Neutral Disease Disease Disease 2 F[M]=25% F[V]=1% Nali=229 0.554 0.462 0.040 0.610 0.602 D161G Disease Disease Disease Disease Disease 4 F[D]=73% F[G]=0% Nali=230 0.812 0.814 0.000 0.580 0.709 N162D Disease Neutral Neutral Neutral Neutral 0 F[N]=8% F[D]=1% Nali=228 0.614 0.419 0.080 0.135 0.484 N162H Disease Neutral Disease Neutral Neutral 0 F[N]=8% F[H]=0% Nali=228 0.866 0.335 0.000 0.440 0.486 N162S Disease Neutral Disease Neutral Neutral 2 F[N]=8% F[S]=1% Nali=228 0.597 0.312 0.020 0.260 0.409 N162T Disease Neutral Disease Neutral Neutral 1 F[N]=8% F[T]=0% Nali=228 0.680 0.319 0.000 0.385 0.475 N162Y Disease Neutral Disease Neutral Disease 2 F[N]=8% F[Y]=0% Nali=228 0.909 0.438 0.000 0.450 0.584 M163I Neutral Neutral Neutral Neutral Neutral 4 F[M]=24% F[I]=20% Nali=229 0.216 0.200 0.250 0.175 0.305 M163L Neutral Neutral Neutral Neutral Neutral 6 F[M]=24% F[L]=45% Nali=229 0.163 0.169 1.000 0.135 0.181 M163V Neutral Neutral Neutral Neutral Neutral 1 F[M]=24% F[V]=3% Nali=229 0.175 0.418 0.090 0.225 0.441 T164I Disease Neutral Neutral Neutral Neutral 2 F[T]=23% F[I]=4% Nali=229 0.665 0.274 0.260 0.150 0.391 T164N Neutral Neutral Neutral Neutral Neutral 1 F[T]=23% F[N]=0% Nali=229 0.473 0.370 0.270 0.290 0.450 V165L Neutral Neutral Neutral Neutral Neutral 2 F[V]=67% F[L]=17% Nali=229 0.258 0.352 0.130 0.215 0.407 R166G Disease Disease Neutral Neutral Disease 0 F[R]=32% F[G]=0% Nali=229 0.584 0.552 0.060 0.470 0.505 R166Q Neutral Neutral Neutral Neutral Neutral 1 F[R]=32% F[Q]=8% Nali=229 0.355 0.294 0.250 0.210 0.427 V167A Disease Neutral Disease Disease Disease 3 F[V]=24% F[A]=0% Nali=229 0.755 0.368 0.000 0.535 0.634 P168L Disease Disease Disease Disease Disease 6 F[P]=99% F[L]=0% Nali=228 0.979 0.788 0.000 0.675 0.811 E169G Neutral Neutral Neutral Disease Neutral 2 F[E]=29% F[G]=1% Nali=131 0.496 0.459 0.050 0.505 0.391 V171A Disease Neutral Neutral Disease Disease 1 F[V]=43% F[A]=1% Nali=68 0.653 0.437 0.070 0.535 0.533 A172D Neutral Disease Neutral Neutral Disease 1 F[A]=26% F[D]=0% Nali=68 0.463 0.587 0.650 0.460 0.525 A174D Disease Disease Neutral Disease Disease 4 F[A]=59% F[D]=0% Nali=63 0.820 0.722 0.120 0.670 0.711 A174V Neutral Neutral Neutral Neutral Neutral 5 F[A]=59% F[V]=16% Nali=63 0.167 0.237 1.000 0.230 0.265 S177F Disease Neutral Disease Disease Neutral 4 F[S]=64% F[F]=0% Nali=32 0.897 0.334 0.010 0.640 0.325 I178L Neutral Neutral Neutral Neutral Neutral 9 F[I]=28% F[L]=16% Nali=24 0.294 0.075 0.290 0.385 0.047 I178M Neutral Neutral Neutral Neutral Neutral 7 F[I]=28% F[M]=0% Nali=24 0.470 0.134 0.100 0.450 0.140 I178T Neutral Neutral Neutral Neutral Neutral 7 F[I]=28% F[T]=4% Nali=24 0.202 0.171 0.640 0.255 0.130 I178V Neutral Neutral Neutral Neutral Neutral 8 F[I]=28% F[V]=36% Nali=24 0.165 0.024 1.000 0.165 0.077 D179G Disease Disease Disease Disease Disease 2 F[D]=75% F[G]=0% Nali=23 0.528 0.509 0.040 0.615 0.580 D179N Neutral Neutral Neutral Neutral Neutral 7 F[D]=75% F[N]=4% Nali=23 0.421 0.285 0.050 0.485 0.170 D179Y Disease Disease Disease Disease Disease 2 F[D]=75% F[Y]=0% Nali=23 0.617 0.575 0.010 0.655 0.588 V180M Neutral Neutral Neutral Neutral Neutral 9 F[V]=43% F[M]=26% Nali=22 0.240 0.033 1.000 0.155 0.063 G181D Disease Neutral Disease Disease Neutral 6 F[G]=70% F[D]=0% Nali=22 0.577 0.293 0.040 0.595 0.183 G181R Disease Neutral Neutral Neutral Neutral 8 F[G]=70% F[R]=4% Nali=22 0.582 0.169 0.310 0.435 0.099 G181S Neutral Neutral Neutral Neutral Neutral 9 F[G]=70% F[S]=17% Nali=22 0.145 0.064 0.400 0.265 0.055 K182N Disease Neutral Disease Disease Neutral 7 F[K]=83% F[N]=0% Nali=22 0.752 0.255 0.030 0.600 0.150 K182R Disease Neutral Neutral Neutral Neutral 8 F[K]=83% F[R]=4% Nali=22 0.515 0.114 0.320 0.285 0.090 T183N Neutral Neutral Neutral Neutral Neutral 9 F[T]=19% F[N]=48% Nali=20 0.265 0.020 0.810 0.235 0.067 Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variants Disease: Disease causing variants Outputs: Value reported under each prediction PANTHER: Between 0 and 1. (If >0.5 mutation is predicted Disease) PhD-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) SIFT: Positive Value (If >0.05 mutation is predicted Neutral) SNAP: Output normailzed between 0 and 1 (If >0.5 mutation is predicted Disease) Meta-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) RI: Reliability Index between 0 an 10 F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site