Table 1.
All 77 Coding Nonsynonymous Single Nucleotide Polymorphisms That Were Evaluated by Both SIFT and PolyPhen Algorithms
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SIFT |
PolyPhen |
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|---|---|---|---|---|---|---|---|---|
| S. no. | SNP ID | Mutation | Prediction | TI score | Prediction | Score | Sensitivity | Specificity |
| 1 | rs34379766 | S20Y | Damaging | 0.05 | Benign | 0.158 | 0.92 | 0.87 |
| 2 | rs56017157 | P30L | Tolerated | 0.08 | Benign | 0.007 | 0.96 | 0.75 |
| 3 | rs142735651 | T68M | Tolerated | 0.44 | Benign | 0.013 | 0.96 | 0.78 |
| 4 | rs143770796 | D73N | Tolerated | 0.13 | Probably damaging | 0.986 | 0.74 | 0.96 |
| D73Y | Damaging | 0 | Probably damaging | 1 | 0 | 1 | ||
| 5 | rs77228285 | V89M | Damaging | 0 | Probably damaging | 0.996 | 0.55 | 0.98 |
| 6 | rs200856864 | T96A | Tolerated | 0.55 | Benign | 0.002 | 0.99 | 0.3 |
| 7 | rs201479792 | N101S | Damaging | 0.01 | Benign | 0.281 | 0.91 | 0.88 |
| 8 | rs146486757 | R103C | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 9 | rs984896 | V105G | Damaging | 0 | Probably damaging | 0.995 | 0.68 | 0.97 |
| 10 | rs147905731 | D153N | Tolerated | 0.06 | Benign | 0.001 | 0.99 | 0.15 |
| 11 | rs141700623 | H157Y | Tolerated | 0.84 | Benign | 0.092 | 0.93 | 0.85 |
| 12 | rs188795493 | I161V | Tolerated | 0.23 | Probably damaging | 0.988 | 0.73 | 0.96 |
| 13 | rs200978269 | R170Q | Tolerated | 0.15 | Benign | 0 | 1 | 0 |
| 14 | rs150454821 | G198V | Damaging | 0.01 | Probably damaging | 0.998 | 0.27 | 0.99 |
| 15 | rs146860437 | E200K | Tolerated | 0.1 | Benign | 0 | 1 | 0 |
| 16 | rs56107455 | T204I | Tolerated | 0.44 | Benign | 0 | 1 | 0 |
| 17 | rs201079200 | D229N | Tolerated | 0.66 | Benign | 0.002 | 0.99 | 0.3 |
| 18 | rs140656187 | A232S | Damaging | 0 | Possibly damaging | 0.951 | 0.79 | 0.95 |
| 19 | rs149635848 | V285I | Tolerated | 0.53 | Benign | 0 | 1 | 0 |
| 20 | rs143406438 | C290Y | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 21 | rs137870123 | K314R | Tolerated | 0.11 | Benign | 0.039 | 0.94 | 0.83 |
| 22 | rs200211366 | N369S | Tolerated | 0.5 | Benign | 0.001 | 0.99 | 0.15 |
| 23 | rs12320176 | N385S | Tolerated | 0.32 | Benign | 0.001 | 0.99 | 0.15 |
| 24 | rs139868331 | R391W | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 25 | rs74763375 | N414H | Damaging | 0.01 | Probably damaging | 1 | 0 | 1 |
| 26 | rs201880960 | I418V | Damaging | 0 | Possibly damaging | 0.87 | 0.83 | 0.93 |
| 27 | rs141230043 | I418N | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 28 | rs144549266 | R453H | Tolerated | 0.16 | Probably damaging | 1 | 0 | 1 |
| 29 | rs200007116 | I456V | Tolerated | 0.07 | Possibly damaging | 0.743 | 0.85 | 0.92 |
| 30 | rs149951770 | R490H | Tolerated | 0.08 | Possibly damaging | 0.867 | 0.83 | 0.93 |
| 31 | rs182692782 | V494L | Tolerated | 0.32 | Benign | 0 | 1 | 0 |
| 32 | rs146593760 | K498I | Tolerated | 0.18 | Benign | 0.027 | 0.95 | 0.81 |
| 33 | rs145108143 | G513D | Damaging | 0.02 | Probably damaging | 0.999 | 0.14 | 0.99 |
| 34 | rs200670489 | T541S | Damaging | 0 | not run by the server | |||
| 35 | rs201942735 | S551F | Damaging | 0.03 | Benign | 0.013 | 0.96 | 0.78 |
| 36 | rs147888915 | C553R | Damaging | 0.01 | not run by the server | |||
| 37 | rs202048840 | G561S | Tolerated | 0.17 | Probably damaging | 0.989 | 0.72 | 0.97 |
| 38 | rs141636701 | A577T | Tolerated | 0.1 | Benign | 0.001 | 0.99 | 0.15 |
| 39 | rs200350558 | R580Q | Tolerated | 0.37 | Benign | 0.28 | 0.91 | 0.88 |
| 40 | rs200574817 | H614D | Damaging | 0.05 | Probably damaging | 0.995 | 0.68 | 0.97 |
| 41 | rs143726790 | E615K | Tolerated | 0.59 | Benign | 0.125 | 0.93 | 0.86 |
| 42 | rs151083303 | P624R | Tolerated | 0.07 | Probably damaging | 1 | 0 | 1 |
| 43 | rs141054346 | V635M | Tolerated | 0.15 | Benign | 0.063 | 0.94 | 0.84 |
| 44 | rs139022684 | G661S | Tolerated | 0.37 | Benign | 0 | 1 | 0 |
| 45 | rs200724560 | R669C | Damaging | 0 | Probably damaging | 0.999 | 0.14 | 0.99 |
| 46 | rs56387488 | R683W | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 47 | rs138548737 | S686R | Damaging | 0.05 | Probably damaging | 0.999 | 0.14 | 0.99 |
| 48 | rs181659329 | P692H | Damaging | 0 | Possibly damaging | 0.911 | 0.81 | 0.94 |
| 49 | rs35961836 | S717L | Damaging | 0.02 | Possibly damaging | 0.717 | 0.86 | 0.92 |
| 50 | rs189789018 | V723L | Damaging | 0.03 | Probably damaging | 0.999 | 0.14 | 0.99 |
| 51 | rs55787439 | I744T | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 52 | rs3891921 | D758H | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 53 | rs202221237 | G780E | Tolerated | 0.08 | Probably damaging | 1 | 0 | 1 |
| 54 | rs144510847 | L795V | Damaging | 0 | Benign | 0.123 | 0.93 | 0.86 |
| 55 | rs148448153 | H802Y | Damaging | 0 | Benign | 0.139 | 0.92 | 0.86 |
| 56 | rs182154425 | G804V | Damaging | 0 | Possibly damaging | 0.943 | 0.8 | 0.95 |
| 57 | rs80185484 | A805P | Tolerated | 0.08 | Benign | 0.091 | 0.93 | 0.85 |
| 58 | rs147206496 | P845A | Damaging | 0.03 | Benign | 0 | 1 | 0 |
| 59 | rs143021252 | S896N | Damaging | 0 | Probably damaging | 1 | 0 | 1 |
| 60 | rs144558290 | A913T | Tolerated | 0.1 | Benign | 0.007 | 0.96 | 0.75 |
| 61 | rs193920754 | Q934H | Damaging | 0.03 | Benign | 0.02 | 0.95 | 0.8 |
| 62 | rs60586767 | A962T | Tolerated | 0.08 | Probably damaging | 1 | 0 | 1 |
| 63 | rs56259600 | K998R | Tolerated | 0.44 | Benign | 0.056 | 0.94 | 0.84 |
| 64 | rs139267530 | E1019D | Tolerated | 0.51 | Benign | 0 | 1 | 0 |
| 65 | rs150001629 | T1024N | Tolerated | 0.07 | Benign | 0 | 1 | 0 |
| 66 | rs200017094 | R1040W | Damaging | 0 | Benign | 0.002 | 0.99 | 0.3 |
| 67 | rs149181380 | R1040Q | Damaging | 0.04 | Possibly damaging | 0.913 | 0.81 | 0.94 |
| 68 | rs151311358 | S1049G | Damaging | 0.04 | Benign | 0.088 | 0.93 | 0.85 |
| 69 | rs17118292 | M1055I | Tolerated | 0.59 | Benign | 0.005 | 0.97 | 0.74 |
| 70 | rs201958747 | R1118Q | Tolerated | 0.27 | Probably damaging | 0.986 | 0.74 | 0.96 |
| 71 | rs773123 | S1119C | Tolerated | 0.07 | Probably damaging | 1 | 0 | 1 |
| 72 | rs201486425 | P1126L | Tolerated | 0.16 | Benign | 0.104 | 0.93 | 0.86 |
| 73 | rs150312718 | A1131T | Damaging | 0.02 | Probably damaging | 0.996 | 0.55 | 0.98 |
| 74 | rs180986542 | R1173W | Damaging | 0.01 | Benign | 0 | 1 | 0 |
| 75 | rs55709407 | T1254K | Tolerated | 0.52 | Possibly damaging | 0.828 | 0.84 | 0.93 |
| 76 | rs201199014 | H1330Y | Damaging | 0 | Probably damaging | 0.997 | 0.41 | 0.98 |
| 77 | rs202205409 | P1335S | Tolerated | 0.59 | Benign | 0.001 | 0.99 | 0.15 |
TI, tolerance index.