10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | V | F | D | Q | H | L | T | P | V | T | V | S | E | G | E | Y | V | Q | L | S | C | H | V | Q | G | S | E | P | I | R | I | Q | W | L | K | A | G | R | E | I | K | P | S | D | R | C | S | F | S | F | A | S | G | T | A | V | L | E | L | R | D | V | A | K | A | D | S | G | D | Y | V | C | K | A | S | N | V | A | G | S | D | T | T | K | S | K | V | T | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
9590 | 1 | P/R | 1 | rs867410935 | 0.1723 | None | gnomAD-2.1.1 | 4.16E-06 | |
9590 | 1 | P/R | 1 | rs867410935 | 0.1723 | None | gnomAD-4.0.0 | 1.6461E-06 | |
9591 | 2 | V/I | 2 | None | 0.5978 | None | gnomAD-4.0.0 | 1.64259E-06 | |
9593 | 4 | D/E | 4 | None | 0.4618 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9593 | 4 | D/N | 4 | None | 0.4618 | None | gnomAD-4.0.0 | 1.38024E-06 | |
9595 | 6 | H/Q | 7 | rs773200956 | 0.6498 | None | gnomAD-2.1.1 | 4.04E-06 | |
9595 | 6 | H/R | 7 | None | 0.6498 | None | gnomAD-4.0.0 | 1.60302E-06 | |
9595 | 6 | H/Y | 7 | rs558999754 | 0.6498 | None | gnomAD-2.1.1 | 4.04E-06 | |
9595 | 6 | H/Y | 7 | rs558999754 | 0.6498 | None | gnomAD-3.1.2 | 6.57E-06 | |
9595 | 6 | H/Y | 7 | rs558999754 | 0.6498 | None | 1000 genomes | 1.99681E-04 | |
9595 | 6 | H/Y | 7 | rs558999754 | 0.6498 | None | gnomAD-4.0.0 | 6.56401E-06 | |
9596 | 7 | L/F | 8 | rs2076095126 | 0.1564 | None | gnomAD-3.1.2 | 6.57E-06 | |
9596 | 7 | L/F | 8 | rs2076095126 | 0.1564 | None | gnomAD-4.0.0 | 6.44154E-06 | |
9597 | 8 | T/A | 9 | rs761562146 | 0.7366 | None | gnomAD-2.1.1 | 4.03E-06 | |
9597 | 8 | T/A | 9 | rs761562146 | 0.7366 | None | gnomAD-3.1.2 | 1.31E-05 | |
9597 | 8 | T/A | 9 | rs761562146 | 0.7366 | None | gnomAD-4.0.0 | 2.48129E-06 | |
9597 | 8 | T/I | 9 | rs367748413 | 0.7366 | None | gnomAD-2.1.1 | 1.07E-05 | |
9597 | 8 | T/I | 9 | rs367748413 | 0.7366 | None | gnomAD-3.1.2 | 1.97E-05 | |
9597 | 8 | T/I | 9 | rs367748413 | 0.7366 | None | gnomAD-4.0.0 | 5.58257E-06 | |
9597 | 8 | T/S | 9 | rs761562146 | 0.7366 | None | gnomAD-2.1.1 | 4.03E-06 | |
9597 | 8 | T/S | 9 | rs761562146 | 0.7366 | None | gnomAD-4.0.0 | 6.84979E-07 | |
9598 | 9 | P/S | 11 | None | 0.6194 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9599 | 10 | V/I | 13 | rs887090503 | 0.3029 | None | gnomAD-4.0.0 | 1.36882E-06 | |
9599 | 10 | V/L | 13 | rs887090503 | 0.3029 | None | gnomAD-2.1.1 | 7.14E-06 | |
9599 | 10 | V/L | 13 | rs887090503 | 0.3029 | None | gnomAD-3.1.2 | 6.57E-06 | |
9599 | 10 | V/L | 13 | rs887090503 | 0.3029 | None | gnomAD-4.0.0 | 9.29766E-06 | |
9600 | 11 | T/I | 14 | None | 0.4684 | None | gnomAD-4.0.0 | 1.59213E-06 | |
9601 | 12 | V/E | 16 | rs1436259872 | 0.1864 | None | gnomAD-2.1.1 | 8.04E-06 | |
9601 | 12 | V/E | 16 | rs1436259872 | 0.1864 | None | gnomAD-4.0.0 | 2.73761E-06 | |
9601 | 12 | V/M | 16 | rs1310690220 | 0.1864 | None | gnomAD-2.1.1 | 4.02E-06 | |
9601 | 12 | V/M | 16 | rs1310690220 | 0.1864 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9602 | 13 | S/R | 18 | rs768790360 | 0.3186 | None | gnomAD-2.1.1 | 8.04E-06 | |
9602 | 13 | S/R | 18 | rs768790360 | 0.3186 | None | gnomAD-4.0.0 | 3.18313E-06 | |
9603 | 14 | E/G | 23 | None | 0.4931 | None | gnomAD-4.0.0 | 1.59134E-06 | |
9604 | 15 | G/E | 24 | rs1469017379 | 0.3766 | None | gnomAD-2.1.1 | 4.02E-06 | |
9604 | 15 | G/E | 24 | rs1469017379 | 0.3766 | None | gnomAD-4.0.0 | 3.18275E-06 | |
9606 | 17 | Y/C | 26 | rs1408526622 | 0.3812 | None | gnomAD-4.0.0 | 1.59119E-06 | |
9606 | 17 | Y/H | 26 | None | 0.3812 | None | gnomAD-4.0.0 | 2.05259E-06 | |
9607 | 18 | V/L | 28 | None | 0.1703 | None | gnomAD-4.0.0 | 6.84195E-07 | |
9607 | 18 | V/M | 28 | rs375807609 | 0.1703 | None | gnomAD-2.1.1 | 1.10543E-04 | |
9607 | 18 | V/M | 28 | rs375807609 | 0.1703 | None | gnomAD-3.1.2 | 5.26E-05 | |
9607 | 18 | V/M | 28 | rs375807609 | 0.1703 | None | 1000 genomes | 1.99681E-04 | |
9607 | 18 | V/M | 28 | rs375807609 | 0.1703 | None | gnomAD-4.0.0 | 5.20488E-05 | |
9610 | 21 | S/N | 31 | rs371759532 | 0.3524 | None | gnomAD-2.1.1 | 7.49E-05 | |
9610 | 21 | S/N | 31 | rs371759532 | 0.3524 | None | gnomAD-3.1.2 | 1.97055E-04 | |
9610 | 21 | S/N | 31 | rs371759532 | 0.3524 | None | gnomAD-4.0.0 | 3.408E-05 | |
9612 | 23 | H/L | 34 | rs779340510 | 0.2432 | None | gnomAD-2.1.1 | 4.01E-06 | |
9612 | 23 | H/L | 34 | rs779340510 | 0.2432 | None | gnomAD-4.0.0 | 1.59106E-06 | |
9612 | 23 | H/Q | 34 | None | 0.2432 | None | gnomAD-4.0.0 | 6.8417E-07 | |
9612 | 23 | H/R | 34 | rs779340510 | 0.2432 | None | gnomAD-2.1.1 | 8.03E-06 | |
9612 | 23 | H/R | 34 | rs779340510 | 0.2432 | None | gnomAD-4.0.0 | 3.18212E-06 | |
9613 | 24 | V/I | 35 | rs749649816 | 0.1058 | None | gnomAD-2.1.1 | 4.01E-06 | |
9613 | 24 | V/I | 35 | rs749649816 | 0.1058 | None | gnomAD-4.0.0 | 1.59106E-06 | |
9614 | 25 | Q/K | 38 | None | 0.4951 | None | gnomAD-4.0.0 | 3.60097E-06 | |
9615 | 26 | G/E | 40 | rs754640016 | 0.4751 | None | gnomAD-4.0.0 | 6.84164E-07 | |
9615 | 26 | G/R | 40 | rs780834082 | 0.4751 | None | gnomAD-2.1.1 | 4.01E-06 | |
9615 | 26 | G/R | 40 | rs780834082 | 0.4751 | None | gnomAD-4.0.0 | 1.59101E-06 | |
9615 | 26 | G/V | 40 | rs754640016 | 0.4751 | None | gnomAD-2.1.1 | 4.01E-06 | |
9615 | 26 | G/V | 40 | rs754640016 | 0.4751 | None | gnomAD-4.0.0 | 1.36833E-06 | |
9617 | 28 | E/K | 42 | rs144025230 | 0.4621 | None | gnomAD-2.1.1 | 4.28E-05 | |
9617 | 28 | E/K | 42 | rs144025230 | 0.4621 | None | gnomAD-3.1.2 | 5.91E-05 | |
9617 | 28 | E/K | 42 | rs144025230 | 0.4621 | None | 1000 genomes | 1.99681E-04 | |
9617 | 28 | E/K | 42 | rs144025230 | 0.4621 | None | gnomAD-4.0.0 | 3.22185E-05 | |
9619 | 30 | I/F | 44 | rs1446542554 | 0.1285 | None | gnomAD-4.0.0 | 6.84168E-07 | |
9619 | 30 | I/T | 44 | rs530257812 | 0.1285 | None | gnomAD-2.1.1 | 4.01E-06 | |
9619 | 30 | I/T | 44 | rs530257812 | 0.1285 | None | gnomAD-3.1.2 | 6.57E-06 | |
9619 | 30 | I/T | 44 | rs530257812 | 0.1285 | None | 1000 genomes | 1.99681E-04 | |
9619 | 30 | I/T | 44 | rs530257812 | 0.1285 | None | gnomAD-4.0.0 | 6.56564E-06 | |
9619 | 30 | I/V | 44 | None | 0.1285 | None | gnomAD-4.0.0 | 3.42084E-06 | |
9620 | 31 | R/K | 45 | None | 0.7594 | None | gnomAD-4.0.0 | 1.59104E-06 | |
9621 | 32 | I/N | 46 | None | 0.1969 | None | gnomAD-4.0.0 | 1.59103E-06 | |
9623 | 34 | W/L | 48 | None | 0.1266 | None | gnomAD-4.0.0 | 6.8417E-07 | |
9623 | 34 | W/S | 48 | None | 0.1266 | None | gnomAD-4.0.0 | 6.8417E-07 | |
9624 | 35 | L/W | 49 | None | 0.1960 | None | gnomAD-4.0.0 | 1.59101E-06 | |
9625 | 36 | K/R | 50 | None | 0.2044 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9626 | 37 | A/D | 51 | rs397517530 | 0.7058 | None | gnomAD-2.1.1 | 1.78E-05 | |
9626 | 37 | A/D | 51 | rs397517530 | 0.7058 | None | gnomAD-3.1.2 | 1.31E-05 | |
9626 | 37 | A/D | 51 | rs397517530 | 0.7058 | None | gnomAD-4.0.0 | 4.33751E-05 | |
9626 | 37 | A/V | 51 | None | 0.7058 | None | gnomAD-4.0.0 | 6.84169E-07 | |
9627 | 38 | G/D | 52 | rs878908638 | 0.5368 | None | gnomAD-2.1.1 | 1.2E-05 | |
9627 | 38 | G/D | 52 | rs878908638 | 0.5368 | None | gnomAD-4.0.0 | 2.73669E-06 | |
9628 | 39 | R/G | 55 | None | 0.8222 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9628 | 39 | R/W | 55 | rs1286102161 | 0.8222 | None | gnomAD-3.1.2 | 6.57E-06 | |
9628 | 39 | R/W | 55 | rs1286102161 | 0.8222 | None | gnomAD-4.0.0 | 6.56927E-06 | |
9629 | 40 | E/K | 56 | None | 0.4879 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9630 | 41 | I/T | 58 | None | 0.1982 | None | gnomAD-4.0.0 | 1.36834E-06 | |
9632 | 43 | P/L | 70 | rs1398429600 | 0.5015 | None | gnomAD-2.1.1 | 8.03E-06 | |
9632 | 43 | P/L | 70 | rs1398429600 | 0.5015 | None | gnomAD-4.0.0 | 6.36436E-06 | |
9632 | 43 | P/S | 70 | rs1223602495 | 0.5015 | None | gnomAD-3.1.2 | 6.57E-06 | |
9632 | 43 | P/S | 70 | rs1223602495 | 0.5015 | None | gnomAD-4.0.0 | 1.15283E-05 | |
9634 | 45 | D/E | 109 | rs2076081318 | 1.1218 | None | gnomAD-3.1.2 | 6.57E-06 | |
9634 | 45 | D/E | 109 | rs2076081318 | 1.1218 | None | gnomAD-4.0.0 | 1.59109E-06 | |
9635 | 46 | R/G | 115 | rs397517531 | 0.4949 | None | gnomAD-2.1.1 | 4.02E-06 | |
9635 | 46 | R/G | 115 | rs397517531 | 0.4949 | None | gnomAD-4.0.0 | 3.42088E-06 | |
9636 | 47 | C/R | 121 | rs2076080616 | 0.1633 | None | gnomAD-4.0.0 | 1.36836E-06 | |
9636 | 47 | C/Y | 121 | rs1434739895 | 0.1633 | None | gnomAD-2.1.1 | 3.19E-05 | |
9636 | 47 | C/Y | 121 | rs1434739895 | 0.1633 | None | gnomAD-3.1.2 | 6.57E-06 | |
9636 | 47 | C/Y | 121 | rs1434739895 | 0.1633 | None | gnomAD-4.0.0 | 6.57013E-06 | |
9637 | 48 | S/G | 122 | rs1160550023 | 0.3196 | None | gnomAD-2.1.1 | 4.02E-06 | |
9637 | 48 | S/N | 122 | None | 0.3196 | None | gnomAD-4.0.0 | 1.36836E-06 | |
9637 | 48 | S/R | 122 | rs1160550023 | 0.3196 | None | gnomAD-3.1.2 | 6.57E-06 | |
9637 | 48 | S/R | 122 | rs1160550023 | 0.3196 | None | gnomAD-4.0.0 | 6.56996E-06 | |
9638 | 49 | F/V | 123 | rs2076079100 | 0.3811 | None | gnomAD-4.0.0 | 2.40064E-06 | |
9639 | 50 | S/G | 125 | rs2076078756 | 0.4581 | None | gnomAD-3.1.2 | 6.57E-06 | |
9639 | 50 | S/G | 125 | rs2076078756 | 0.4581 | None | gnomAD-4.0.0 | 6.56927E-06 | |
9642 | 53 | S/G | 131 | rs367888853 | 0.8563 | None | gnomAD-2.1.1 | 3.62E-05 | |
9642 | 53 | S/G | 131 | rs367888853 | 0.8563 | None | gnomAD-3.1.2 | 2.63E-05 | |
9642 | 53 | S/G | 131 | rs367888853 | 0.8563 | None | gnomAD-4.0.0 | 3.53208E-05 | |
9642 | 53 | S/N | 131 | rs1461432268 | 0.8563 | None | gnomAD-2.1.1 | 4.02E-06 | |
9642 | 53 | S/R | 131 | None | 0.8563 | None | gnomAD-4.0.0 | 2.05255E-06 | |
9642 | 53 | S/T | 131 | None | 0.8563 | None | gnomAD-4.0.0 | 3.18224E-06 | |
9643 | 54 | G/A | 134 | rs1190523795 | 0.1447 | None | gnomAD-2.1.1 | 4.02E-06 | |
9643 | 54 | G/A | 134 | rs1190523795 | 0.1447 | None | gnomAD-4.0.0 | 4.78933E-06 | |
9646 | 57 | V/I | 137 | rs765109515 | 0.1969 | None | gnomAD-2.1.1 | 4.02E-06 | |
9646 | 57 | V/I | 137 | rs765109515 | 0.1969 | None | gnomAD-4.0.0 | 3.1824E-06 | |
9646 | 57 | V/L | 137 | rs765109515 | 0.1969 | None | gnomAD-2.1.1 | 2.01E-05 | |
9646 | 57 | V/L | 137 | rs765109515 | 0.1969 | None | gnomAD-4.0.0 | 1.75032E-05 | |
9647 | 58 | L/M | 138 | None | 0.0817 | None | gnomAD-2.1.1 | 4.02E-06 | |
9647 | 58 | L/M | 138 | None | 0.0817 | None | gnomAD-4.0.0 | 1.59119E-06 | |
9650 | 61 | R/G | 141 | None | 0.5687 | None | gnomAD-4.0.0 | 1.59115E-06 | |
9651 | 62 | D/E | 143 | None | 0.7377 | None | gnomAD-4.0.0 | 2.40065E-06 | |
9651 | 62 | D/N | 143 | None | 0.7377 | None | gnomAD-4.0.0 | 2.73677E-06 | |
9652 | 63 | V/M | 144 | None | 0.1196 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9656 | 67 | D/N | 149 | rs1064797277 | 0.2800 | None | gnomAD-4.0.0 | 1.36839E-06 | |
9657 | 68 | S/L | 151 | rs200049911 | 0.2839 | None | gnomAD-2.1.1 | 3.06869E-04 | |
9657 | 68 | S/L | 151 | rs200049911 | 0.2839 | None | gnomAD-3.1.2 | 7.4262E-04 | |
9657 | 68 | S/L | 151 | rs200049911 | 0.2839 | None | 1000 genomes | 1.59744E-03 | |
9657 | 68 | S/L | 151 | rs200049911 | 0.2839 | None | gnomAD-4.0.0 | 1.49335E-04 | |
9657 | 68 | S/T | 151 | None | 0.2839 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9657 | 68 | S/W | 151 | None | 0.2839 | None | gnomAD-4.0.0 | 6.84208E-07 | |
9658 | 69 | G/R | 152 | rs1413237193 | 0.2234 | None | gnomAD-3.1.2 | 6.57E-06 | |
9658 | 69 | G/R | 152 | rs1413237193 | 0.2234 | None | gnomAD-4.0.0 | 2.56197E-06 | |
9659 | 70 | D/V | 153 | None | 0.4609 | None | gnomAD-4.0.0 | 3.60097E-06 | |
9661 | 72 | V/A | 155 | None | 0.2086 | None | gnomAD-4.0.0 | 1.59124E-06 | |
9662 | 73 | C/R | 156 | None | 0.0596 | None | gnomAD-4.0.0 | 1.59122E-06 | |
9664 | 75 | A/P | 158 | rs1484358096 | 0.0882 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9666 | 77 | N/K | 161 | None | 0.2024 | None | gnomAD-4.0.0 | 1.5914E-06 | |
9666 | 77 | N/S | 161 | None | 0.2024 | None | gnomAD-4.0.0 | 3.18275E-06 | |
9667 | 78 | V/M | 162 | None | 1.0249 | None | gnomAD-4.0.0 | 1.59144E-06 | |
9669 | 80 | G/R | 164 | None | 0.3250 | None | gnomAD-4.0.0 | 5.47421E-06 | |
9671 | 82 | D/G | 166 | rs530627450 | 0.2464 | None | gnomAD-3.1.2 | 6.57E-06 | |
9671 | 82 | D/G | 166 | rs530627450 | 0.2464 | None | 1000 genomes | 1.99681E-04 | |
9671 | 82 | D/G | 166 | rs530627450 | 0.2464 | None | gnomAD-4.0.0 | 6.56435E-06 | |
9672 | 83 | T/I | 168 | rs769996978 | 0.4648 | None | gnomAD-2.1.1 | 1.43E-05 | |
9672 | 83 | T/I | 168 | rs769996978 | 0.4648 | None | gnomAD-3.1.2 | 3.29E-05 | |
9672 | 83 | T/I | 168 | rs769996978 | 0.4648 | None | gnomAD-4.0.0 | 6.07434E-05 | |
9673 | 84 | T/A | 169 | rs759713900 | 0.1036 | None | gnomAD-2.1.1 | 4.03E-06 | |
9673 | 84 | T/A | 169 | rs759713900 | 0.1036 | None | gnomAD-3.1.2 | 6.57E-06 | |
9673 | 84 | T/A | 169 | rs759713900 | 0.1036 | None | gnomAD-4.0.0 | 6.56978E-06 | |
9673 | 84 | T/N | 169 | None | 0.1036 | None | gnomAD-4.0.0 | 9.5818E-06 | |
9673 | 84 | T/S | 169 | None | 0.1036 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9674 | 85 | K/Q | 171 | None | 0.4704 | None | gnomAD-4.0.0 | 6.84432E-06 | |
9675 | 86 | S/A | 172 | None | 0.1448 | None | gnomAD-4.0.0 | 1.59258E-06 | |
9675 | 86 | S/L | 172 | None | 0.1448 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9678 | 89 | T/A | 175 | None | 0.3674 | None | gnomAD-4.0.0 | 3.60097E-06 | |
9679 | 90 | I/T | 177 | rs749610242 | 0.1687 | None | gnomAD-2.1.1 | 1.21E-05 | |
9679 | 90 | I/T | 177 | rs749610242 | 0.1687 | None | gnomAD-4.0.0 | 4.79419E-06 |