Table 1. Comparison of SIFT,PolyPhenand PANTHER Prediction.
| dbSNP rs# clusterID | Protein residue | SIFT score | SIFT Prediction | HumDivScore | HumDiv Prediction | HumVarScore | HumVar Prediction | PolyPhen Prediction | PANTHER |
|---|---|---|---|---|---|---|---|---|---|
| rs11558365 | Q16H | 0.01 | Affect protein function | 0.075 | Benign | 0.022 | Benign | Highly tolerant | -3.75 |
| rs11558360 | E28K | 0.08 | Tolerated | 0.976 | Probably damaging | 0.691 | Possibly damaging | Damaging | -3.51 |
| rs11558375 | C31F a | 0.01 | Affect protein function | 0.999 | Probably damaging | 0.932 | Probably damaging | Highly damaging | -4.18 |
| rs147939689 | R56Q | 0.68 | Tolerated | 0.998 | Probably damaging | 0.74 | Possibly damaging | Damaging | -2.96 |
| rs142392595 | Y83C | 0 | Affect protein function | 1 | Probably damaging | 0.991 | Probably damaging | Highly damaging | -2.90 |
| rs146173648 | A147T | 0.39 | Tolerated | 0.023 | Benign | 0.013 | Benign | Highly tolerant | -3.01 |
| rs112954819 | M149V | 0.27 | Tolerated | 0 | Benign | 0.002 | Benign | Highly tolerant | -3.54 |
| rs61753428 | N155S | 0.5 | Tolerated | 0 | Benign | 0.001 | Benign | Highly tolerant | -2.75 |
| rs11558351 | K186N | 0.42 | Tolerated | 0.829 | Possibly damaging | 0.636 | Possibly damaging | Slightly damaging | -3.58 |
| rs11558354 | G200C a | 0 | Affect protein function | 1 | Probably damaging | 1 | Probably damaging | Highly damaging | -6.22 |
| rs141732747 | S202F | 0.71 | Tolerated | 0 | Benign | 0.002 | Benign | Highly tolerant | -3.96 |
| rs17853396 | G204V a | 0.04 | Affect protein function | 1 | Probably damaging | 0.999 | Probably damaging | Highly damaging | -5.10 |
| rs182730190 | A214V | 0.31 | Tolerated | 0.75 | Possibly damaging | 0.422 | Benign | Tolerant | -3.25 |
| rs143294717 | S222L a | 0 | Affect protein function | 0.799 | Possibly damaging | 0.482 | Possibly damaging | Slightly damaging | -6.31 |
| rs149108298 | E234K | 0.54 | Tolerated | 0.999 | Probably damaging | 0.98 | Probably damaging | Highly damaging | -2.47 |
| rs149152236 | Q235L | 0.02 | Affect protein function | 0.325 | Benign | 0.248 | Benign | Highly tolerant | -3.83 |
| rs145060432 | K266R | 0.15 | Tolerated | 0.028 | Benign | 0.066 | Benign | Highly tolerant | -4.44 |
| rs147032160 | R278Q | 0.9 | Tolerated | 0.277 | Benign | 0.079 | Benign | Highly tolerant | -3.19 |
| rs11558370 | Q310P a | 0 | Affect protein function | 1 | Probably damaging | 1 | Probably damaging | Highly damaging | -7.17 |
| rs147956260 | R316W | 0 | Affect protein function | 0.675 | Possibly damaging | 0.355 | Benign | Tolerant | -4.87 |
| rs149836418 | N318S | 0 | Affect protein function | 0.04 | Benign | 0.064 | Benign | Highly tolerant | -4.82 |
| rs2959910 | R339P | 0 | Affect protein function | 0.423 | Benign | 0.29 | Benign | Highly tolerant | -5.94 |
| rs151078084 | Q378E a | 0.01 | Affect protein function | 0.999 | Probably damaging | 0.982 | Probably damaging | Highly damaging | -4.65 |
| H391Y* | 0.63 | Tolerated | 1 | Probably damaging | 0.995 | Probably damaging | Highly damaging | -3.19 | |
| rs181813553 | A402V | 0.18 | Tolerated | 0 | Benign | 0 | Benign | Highly tolerant | -2.91 |
| rs148035865 | P408L | 0.36 | Tolerated | 0.002 | Benign | 0.009 | Benign | Highly tolerant | -3.63 |
| K422R* | 0.05 | Tolerated | 0.002 | Benign | 0.032 | Benign | Highly tolerant | -3.38 | |
| rs139159354 | R436T | 0.27 | Tolerated | 0.742 | Possibly damaging | 0.474 | Possibly damaging | Slightly damaging | -3.18 |
| rs59430203 | S437Y a | 0 | Affect protein function | 0.922 | Possibly damaging | 0.814 | Possibly damaging | Slightly damaging | -4.12 |
| rs141505399 | R461H | 0 | Affect protein function | 0.498 | Possibly damaging | 0.18 | Benign | Tolerant | -0.12 |
| rs11558358 | V490L | 0.34 | Tolerated | 0.8 | Possibly damaging | 0.393 | Benign | Tolerant | -0.12 |
a Pyruvate kinase M2 nsSNPs predicted as damaging by both SIFT,PolyPhen and PANTHER.
* known mutations of human pyruvate kinase M2.