Table 2.
rsID | Amino acid change | SIFT | Score | PolyPhen-2 | Score | I-Mutant 3.0 | Score | PROVEAN | Score |
---|---|---|---|---|---|---|---|---|---|
rs38678332 | G37V | Tolerated | 0.17 | Benign | 0.181 | Large decrease | − 0.46 | Neutral | − 1.187 |
rs52798733 | E641V | Damaging | 0.03 | Probably damaging | 0.981 | Large decrease | − 0.04 | Neutral | − 2.256 |
rs53178613 | R256K | Tolerated | 0.35 | Probably damaging | 0.992 | Large decrease | − 0.52 | Neutral | − 0.978 |
rs53231959 | K170E | Damaging | 0.05 | Possibly damaging | 0.897 | Neutral | − 0.53 | Deleterious | − 3.155 |
rs53396744 | I272N | Damaging | 0.02 | Probably damaging | 0.980 | Large decrease | − 1.75 | Deleterious | − 3.292 |
rs53429711 | R36Q | Damaging | 0 | Probably damaging | 1.000 | Neutral | − 0.65 | Deleterious | − 3.718 |
rs54188126 | I625M | Tolerated | 0.11 | Probably damaging | 0.980 | Large decrease | − 1.71 | Neutral | − 0.454 |
rs54578440 | A348V | Tolerated | 0.25 | Probably damaging | 1.000 | Large decrease | 0.01 | Neutral | − 1.909 |
rs54653854 | I156V | Tolerated | 0.93 | Probably damaging | 0.966 | Large decrease | − 1.01 | Neutral | − 0.489 |
rs54660763 | H836Y | Tolerated | 1 | Benign | 0.004 | Neutral | 0.44 | Neutral | − 2.169 |
rs54865001 | M353T | Tolerated | 0.48 | Probably damaging | 0.992 | Large decrease | − 0.62 | Neutral | − 2.259 |
rs55238070 | A173V | Tolerated | 0.27 | Benign | 0.034 | Large decrease | − 0.45 | Neutral | − 0.601 |
rs55342059 | K539Q | Tolerated | 0.24 | Possibly damaging | 0.682 | Large decrease | − 0.79 | Neutral | − 0.111 |
rs55355571 | I82N | Damaging | 0 | Probably damaging | 1.000 | Large decrease | − 2.12 | Deleterious | − 6.284 |
rs55478232 | G8A | Tolerated | 0.09 | Benign | 0.018 | Large increase | − 0.11 | Neutral | − 0.595 |
rs55619315 | R616H | Tolerated | 0.52 | Benign | 0.003 | Large decrease | − 1.29 | Neutral | 1.972 |
rs55752197 | R677H | Tolerated | 0.12 | Benign | 0.002 | Large decrease | − 1.39 | Neutral | − 0.882 |
rs55935830 | D576E | Tolerated | 1 | Benign | 0.003 | Neutral | − 0.14 | Neutral | 0.056 |
rs56791614 | R194Q | Tolerated | 0.2 | Probably damaging | 1.000 | Neutral | − 0. 45 | Neutral | − 0.742 |
rs57105655 | T100M | Tolerated | 0.06 | Probably damaging | 0.998 | Large increase | − 0.16 | Neutral | − 1.801 |
rs57153880 | G316D | Tolerated | 0.37 | Benign | 0.024 | Large decrease | − 0.76 | Deleterious | − 3.017 |
rs57759191 | R727C | Tolerated | 0.09 | Probably damaging | 1.000 | Large decrease | − 0.69 | Neutral | − 2.061 |
rs28989181 | L844F | Damaging | 0 | Probably damaging | 0.998 | Large decrease | − 0.82 | Neutral | 2.454 |
rs28989182 | R814H | Damaging | 0 | Probably damaging | 1.000 | Large decrease | − 1.43 | Deleterious | − 2.880 |
rs28989187 | R550Q | Tolerated | 0.86 | Benign | 0.001 | Large decrease | − 0.78 | Neutral | 0.332 |
rs56079734 | T40M | Damaging | 0.05 | Probably damaging | 1.000 | Neutral | 0.01 | Neutral | − 1.811 |
rs1017842 | E390D | Tolerated | 0.46 | Benign | 0.102 | Large decrease | − 0.31 | Neutral | − 0.530 |
rs1801528 | V618A | Tolerated | 1 | Benign | 0.000 | Large decrease | − 1.43 | Neutral | 1.441 |
rs17851677 | P378S | Damaging | 0.04 | Possibly damaging | 0.804 | Large decrease | − 1.10 | Deleterious | − 3.228 |
rs28989188 | E409D | Tolerated | 0.24 | Probably damaging | 1.000 | Large decrease | − 0.49 | Neutral | − 1.355 |
rs35923791 | N133S | Tolerated | 1 | Benign | 0.248 | Large decrease | − 0.35 | Neutral | − 0.664 |
rs56158360 | R244H | Damaging | 0.02 | Probably damaging | 1.000 | Large decrease | − 1.08 | Deleterious | − 4.461 |
rs75763304 | Q460K | Tolerated | 0.72 | Benign | 0.072 | Neutral | 0.13 | Neutral | − 1.236 |
rs76546181 | F531S | Tolerated | 0.56 | Probably damaging | 1.000 | Large decrease | − 1.68 | Neutral | − 2.074 |
rs77520855 | Y162H | Damaging | 0.04 | Probably damaging | 0.960 | Large decrease | − 1.09 | Neutral | − 2.414 |
rs117485407 | T471M | Tolerated | 0.1 | Possibly damaging | 0.579 | Neutral | 0.32 | Neutral | − 0.615 |
rs138332995 | P544S | Tolerated | 0.74 | Benign | 0.181 | Large decrease | − 1.59 | Neutral | − 1.109 |
rs139226455 | P800S | Tolerated | 0.07 | Possibly damaging | 0.839 | Large decrease | − 1.85 | Deleterious | − 3.780 |
rs140368608 | K779R | Tolerated | 0.64 | Benign | 0.073 | Neutral | − 0.30 | Neutral | − 1.176 |
rs141953425 | P334L | Damaging | 0.01 | Possibly damaging | 0.453 | Large decrease | − 0.80 | Deleterious | − 5.244 |
rs142705245 | A784V | Tolerated | 0.38 | Benign | 0.019 | Large decrease | − 0.20 | Neutral | 0.604 |
rs143346774 | H850R | Tolerated | 0.61 | Probably damaging | 0.998 | Neutral | 0.16 | Neutral | − 1.165 |
rs143559902 | D675E | Tolerated | 1 | Benign | 0.003 | Neutral | − 0.37 | Neutral | − 0.008 |
rs145026343 | C825F | Tolerated | 0.35 | Probably damaging | 0.966 | Large decrease | − 0.13 | Deleterious | − 4.601 |
rs145028054 | E184Q | Damaging | 0.01 | Benign | 0.362 | Neutral | 0.07 | Neutral | − 2.086 |
rs145184714 | A335T | Tolerated | 0.84 | Benign | 0.005 | Large decrease | − 0.78 | Neutral | 0.308 |
rs145578529 | I567V | Tolerated | 0.3 | Possibly damaging | 0.512 | Large decrease | − 1.10 | Neutral | − 0.081 |
rs146387899 | L258F | Tolerated | 0.81 | Benign | 0.074 | Large decrease | − 0.64 | Neutral | − 1.786 |
rs146795655 | T493I | Tolerated | 0.16 | Benign | 0.001 | Neutral | − 0.26 | Neutral | − 0.913 |
rs146821149 | R886S | Damaging | 0.03 | Benign | 0.002 | Large decrease | − 1.25 | Neutral | − 0.328 |
rs147150527 | G376V | Tolerated | 0.17 | Benign | 0.181 | Large decrease | − 0.46 | Neutral | − 1.187 |
rs147549987 | V4M | Tolerated | 0.23 | Benign | 0.000 | Neutral | − 0.68 | Neutral | − 0.282 |
rs147832586 | S83G | Damaging | 0.01 | Benign | 0.061 | Large decrease | − 0.86 | Neutral | − 1.807 |
rs148159407 | N26D | Tolerated | 0.52 | Possibly damaging | 0.913 | Neutral | − 0.43 | Deleterious | − 2.827 |
rs148348158 | T648I | Tolerated | 0.19 | Benign | 0.000 | Large decrease | 0.25 | Neutral | − 1.427 |
rs149628229 | D579G | Tolerated | 0.1 | Benign | 0.328 | Large decrease | − 1.20 | Neutral | − 1.894 |
rs149955447 | E813A | Tolerated | 0.07 | Probably damaging | 0.997 | Large decrease | − 0.69 | Neutral | − 2.258 |
rs150707631 | S797A | Tolerated | 0.13 | Possibly damaging | 0.495 | Large decrease | − 0.79 | Neutral | − 1.043 |
rs150983783 | R421Q | Tolerated | 0.15 | Benign | 0.178 | Neutral | − 0.79 | Neutral | − 1.197 |
rs181352808 | H836Q | Tolerated | 0.29 | Probably damaging | 0.959 | Neutral | − 0.22 | Deleterious | − 2.528 |
rs184449375 | M626V | Tolerated | 0.61 | Benign | 0.000 | Large decrease | − 0.84 | Neutral | 0.072 |
rs190909040 | Y343F | Tolerated | 0.14 | Possibly damaging | 0.925 | Large decrease | − 0.13 | Neutral | − 1.814 |
rs199509124 | P222L | Damaging | 0.01 | Possibly damaging | 0.774 | Large increase | − 0.20 | Deleterious | − 4.125 |
rs199743655 | V274A | Damaging | 0 | Possibly damaging | 0.866 | Large decrease | − 1.00 | Deleterious | − 3.319 |
rs200060772 | S691L | Tolerated | 0.08 | Probably damaging | 0.999 | Neutral | − 0.32 | Neutral | − 2.173 |
rs200788206 | Q350K | Tolerated | 0.79 | Probably damaging | 0.984 | Large decrease | 0.10 | Neutral | − 1.593 |
rs200997833 | K542R | Tolerated | 0.35 | Benign | 0.055 | Neutral | − 0.28 | Neutral | − 0.375 |
rs201251790 | R421W | Tolerated | 0.09 | Benign | 0.021 | Neutral | − 0.38 | Neutral | − 1.629 |
rs201360106 | E21K | Tolerated | 0.09 | Probably damaging | 1.000 | Large decrease | − 0.63 | Deleterious | − 2.504 |
rs202114756 | S384G | Tolerated | 0.31 | Possibly damaging | 0.860 | Large decrease | − 0.57 | Neutral | − 1.503 |
rs202132335 | A739G | Damaging | 0.0 | Benign | 0.072 | Large decrease | − 1.08 | Neutral | − 1.113 |
rs367543489 | Q829E | Tolerated | 0.11 | Probably damaging | 0.999 | Neutral | − 0.10 | Neutral | − 1.197 |
rs368023159 | K488N | Tolerated | 0.15 | Benign | 0.004 | Neutral | − 0.60 | Neutral | − 0.119 |
rs368079817 | Q42R | Tolerated | 0.25 | Probably damaging | 0.999 | Neutral | − 0.06 | Neutral | − 1.985 |
rs368996088 | F781L | Tolerated | 0.16 | Benign | 0.075 | Large decrease | − 1.32 | Neutral | − 1.964 |
rs370388424 | P640L | Tolerated | 0.29 | Benign | 0.020 | Large decrease | − 0.60 | Neutral | − 0.985 |
rs370655726 | C356S | Tolerated | 0.74 | Probably damaging | 1.000 | Large decrease | − 0.69 | Deleterious | − 3.683 |
rs371124423 | C700R | Tolerated | 0.38 | Benign | 0.068 | Large decrease | − 0.26 | Neutral | − 1.228 |
rs371305662 | T291K | Tolerated | 0.84 | Benign | 0.100 | Large decrease | − 0.46 | Neutral | − 1.934 |
rs372003254 | D846E | Tolerated | 0.1 | Possibly damaging | 0.626 | Neutral | 0.24 | Neutral | − 1.695 |
rs372569297 | I755T | Tolerated | 0.75 | Benign | 0.000 | Large decrease | − 1.59 | Neutral | − 0.814 |
rs373256667 | K454R | Tolerated | 0.21 | Probably damaging | 1.000 | Neutral | 0.12 | Neutral | − 0.935 |
rs373789523 | T658I | Tolerated | 0.16 | Benign | 0.000 | Large decrease | 0.25 | Neutral | − 1.951 |
rs373830262 | A108T | Tolerated | 0.49 | Probably damaging | 0.982 | Large decrease | − 0.71 | Neutral | − 0.949 |
rs374682772 | V333I | Tolerated | 0.35 | Benign | 0.002 | Large decrease | − 0.84 | Neutral | − 0.423 |
rs375105548 | I854V | Tolerated | 0.44 | Benign | 0.007 | Large decrease | − 0.65 | Neutral | − 0.137 |
rs375388175 | I703T | Tolerated | 0.76 | Probably damaging | 0.985 | Large decrease | − 1.94 | Neutral | − 1.952 |
rs375798678 | Q181R | Tolerated | 1 | Benign | 0.000 | Neutral | 0.06 | Neutral | 0.416 |
rs375885859 | C51R | Tolerated | 0.11 | Benign | 0.000 | Neutral | 0.07 | Neutral | − 1.379 |
rs376072541 | P632L | Tolerated | 0.1 | Benign | 0.001 | Large decrease | − 0.40 | Neutral | − 2.406 |