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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
14853 | 1 | V/A | 1 | rs1478720233 | 0.2673 | None | gnomAD-2.1.1 | 4.05E-06 | |
14853 | 1 | V/F | 1 | rs753457792 | 0.2673 | None | gnomAD-3.1.2 | 6.58E-06 | |
14853 | 1 | V/F | 1 | rs753457792 | 0.2673 | None | gnomAD-4.0.0 | 6.58172E-06 | |
14853 | 1 | V/G | 1 | None | 0.2673 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14853 | 1 | V/I | 1 | rs753457792 | 0.2673 | None | gnomAD-2.1.1 | 4.05E-06 | |
14854 | 2 | E/K | 2 | None | 0.4484 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14855 | 3 | F/L | 3 | rs1424075362 | 0.1783 | None | gnomAD-2.1.1 | 4.04E-06 | |
14855 | 3 | F/L | 3 | rs1424075362 | 0.1783 | None | gnomAD-4.0.0 | 1.59464E-06 | |
14856 | 4 | T/S | 4 | None | 0.4114 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14858 | 6 | P/R | 7 | None | 0.4515 | None | gnomAD-4.0.0 | 7.53285E-06 | |
14858 | 6 | P/S | 7 | rs763784981 | 0.4515 | None | gnomAD-2.1.1 | 8.08E-06 | |
14858 | 6 | P/S | 7 | rs763784981 | 0.4515 | None | gnomAD-3.1.2 | 1.32E-05 | |
14858 | 6 | P/S | 7 | rs763784981 | 0.4515 | None | gnomAD-4.0.0 | 6.41825E-06 | |
14859 | 7 | L/P | 8 | rs553230082 | 0.1344 | None | gnomAD-2.1.1 | 2.83E-05 | |
14859 | 7 | L/P | 8 | rs553230082 | 0.1344 | None | gnomAD-3.1.2 | 2.63E-05 | |
14859 | 7 | L/P | 8 | rs553230082 | 0.1344 | None | 1000 genomes | 1.99681E-04 | |
14859 | 7 | L/P | 8 | rs553230082 | 0.1344 | None | gnomAD-4.0.0 | 3.72171E-05 | |
14861 | 9 | D/N | 11 | rs1044788441 | 0.5553 | None | gnomAD-2.1.1 | 8.08E-06 | |
14861 | 9 | D/N | 11 | rs1044788441 | 0.5553 | None | gnomAD-3.1.2 | 1.32E-05 | |
14861 | 9 | D/N | 11 | rs1044788441 | 0.5553 | None | gnomAD-4.0.0 | 1.11648E-05 | |
14862 | 10 | Q/H | 13 | None | 0.3116 | None | gnomAD-4.0.0 | 6.84765E-07 | |
14862 | 10 | Q/R | 13 | None | 0.3116 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14863 | 11 | T/K | 14 | None | 0.5637 | None | gnomAD-4.0.0 | 2.73913E-06 | |
14863 | 11 | T/M | 14 | rs759406486 | 0.5637 | None | gnomAD-2.1.1 | 5.02E-05 | |
14863 | 11 | T/M | 14 | rs759406486 | 0.5637 | None | gnomAD-3.1.2 | 6.58E-05 | |
14863 | 11 | T/M | 14 | rs759406486 | 0.5637 | None | gnomAD-4.0.0 | 4.9002E-05 | |
14863 | 11 | T/R | 14 | rs759406486 | 0.5637 | None | gnomAD-2.1.1 | 4.04E-06 | |
14863 | 11 | T/R | 14 | rs759406486 | 0.5637 | None | gnomAD-4.0.0 | 9.58697E-06 | |
14864 | 12 | V/F | 16 | rs535221404 | 0.1970 | None | gnomAD-2.1.1 | 1.21E-05 | |
14864 | 12 | V/F | 16 | rs535221404 | 0.1970 | None | gnomAD-3.1.2 | 6.58E-06 | |
14864 | 12 | V/F | 16 | rs535221404 | 0.1970 | None | gnomAD-4.0.0 | 2.48072E-06 | |
14864 | 12 | V/I | 16 | rs535221404 | 0.1970 | None | gnomAD-2.1.1 | 4.04E-06 | |
14864 | 12 | V/I | 16 | rs535221404 | 0.1970 | None | gnomAD-4.0.0 | 1.36953E-06 | |
14865 | 13 | E/K | 18 | rs543102139 | 0.9088 | None | gnomAD-2.1.1 | 1.18235E-04 | |
14865 | 13 | E/K | 18 | rs543102139 | 0.9088 | None | gnomAD-3.1.2 | 1.71138E-04 | |
14865 | 13 | E/K | 18 | rs543102139 | 0.9088 | None | 1000 genomes | 5.99042E-04 | |
14865 | 13 | E/K | 18 | rs543102139 | 0.9088 | None | gnomAD-4.0.0 | 5.70574E-05 | |
14867 | 15 | G/A | 24 | rs1317888739 | 0.3525 | None | gnomAD-2.1.1 | 3.19E-05 | |
14867 | 15 | G/A | 24 | rs1317888739 | 0.3525 | None | gnomAD-3.1.2 | 6.58E-06 | |
14867 | 15 | G/A | 24 | rs1317888739 | 0.3525 | None | gnomAD-4.0.0 | 6.58207E-06 | |
14867 | 15 | G/E | 24 | rs1317888739 | 0.3525 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14867 | 15 | G/R | 24 | rs144848584 | 0.3525 | None | gnomAD-2.1.1 | 1.41208E-04 | |
14867 | 15 | G/R | 24 | rs144848584 | 0.3525 | None | gnomAD-3.1.2 | 7.24E-05 | |
14867 | 15 | G/R | 24 | rs144848584 | 0.3525 | None | 1000 genomes | 1.99681E-04 | |
14867 | 15 | G/R | 24 | rs144848584 | 0.3525 | None | gnomAD-4.0.0 | 1.28999E-04 | |
14869 | 17 | T/S | 26 | None | 0.3305 | None | gnomAD-4.0.0 | 1.20036E-06 | |
14870 | 18 | A/E | 28 | None | 0.1134 | None | gnomAD-4.0.0 | 2.40067E-06 | |
14871 | 19 | V/A | 29 | rs2058765049 | 0.3771 | None | gnomAD-3.1.2 | 6.58E-06 | |
14871 | 19 | V/A | 29 | rs2058765049 | 0.3771 | None | gnomAD-4.0.0 | 2.03041E-06 | |
14872 | 20 | L/M | 30 | None | 0.1335 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14873 | 21 | E/A | 31 | None | 0.3357 | None | gnomAD-4.0.0 | 1.59391E-06 | |
14874 | 22 | C/Y | 33 | rs375446773 | 0.0774 | None | gnomAD-4.0.0 | 1.20034E-06 | |
14875 | 23 | E/D | 34 | None | 0.2360 | None | gnomAD-4.0.0 | 1.59385E-06 | |
14876 | 24 | V/G | 35 | None | 0.0940 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14878 | 26 | R/G | 40 | rs1376059487 | 0.3040 | None | gnomAD-2.1.1 | 4.03E-06 | |
14878 | 26 | R/G | 40 | rs1376059487 | 0.3040 | None | gnomAD-4.0.0 | 1.59384E-06 | |
14878 | 26 | R/K | 40 | rs1456271454 | 0.3040 | None | gnomAD-3.1.2 | 6.58E-06 | |
14878 | 26 | R/K | 40 | rs1456271454 | 0.3040 | None | gnomAD-4.0.0 | 6.58207E-06 | |
14880 | 28 | N/S | 43 | rs747496717 | 0.9908 | None | gnomAD-2.1.1 | 4.03E-06 | |
14880 | 28 | N/S | 43 | rs747496717 | 0.9908 | None | gnomAD-4.0.0 | 1.59382E-06 | |
14881 | 29 | A/V | 44 | rs780650251 | 0.2002 | None | gnomAD-2.1.1 | 1.21E-05 | |
14881 | 29 | A/V | 44 | rs780650251 | 0.2002 | None | gnomAD-4.0.0 | 6.37519E-06 | |
14882 | 30 | K/T | 45 | rs988336748 | 0.9939 | None | gnomAD-2.1.1 | 3.19E-05 | |
14882 | 30 | K/T | 45 | rs988336748 | 0.9939 | None | gnomAD-3.1.2 | 6.58E-06 | |
14882 | 30 | K/T | 45 | rs988336748 | 0.9939 | None | gnomAD-4.0.0 | 2.48061E-06 | |
14883 | 31 | V/A | 46 | None | 0.2815 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14883 | 31 | V/L | 46 | rs1175129824 | 0.2815 | None | gnomAD-2.1.1 | 4.03E-06 | |
14883 | 31 | V/M | 46 | None | 0.2815 | None | gnomAD-4.0.0 | 1.59376E-06 | |
14886 | 34 | F/Y | 49 | rs2058759633 | 0.1678 | None | gnomAD-4.0.0 | 8.90043E-06 | |
14887 | 35 | K/R | 50 | None | 0.1385 | None | gnomAD-4.0.0 | 1.59364E-06 | |
14890 | 38 | T/A | 55 | rs2058757156 | 0.6263 | None | gnomAD-3.1.2 | 6.58E-06 | |
14890 | 38 | T/A | 55 | rs2058757156 | 0.6263 | None | gnomAD-4.0.0 | 6.58068E-06 | |
14890 | 38 | T/I | 55 | rs2154215014 | 0.6263 | None | gnomAD-3.1.2 | 6.59E-06 | |
14890 | 38 | T/I | 55 | rs2154215014 | 0.6263 | None | gnomAD-4.0.0 | 6.5799E-06 | |
14893 | 41 | L/F | 59 | None | 0.8765 | None | gnomAD-4.0.0 | 1.59357E-06 | |
14893 | 41 | L/P | 59 | None | 0.8765 | None | gnomAD-4.0.0 | 3.42315E-06 | |
14895 | 43 | S/C | 73 | None | 0.2685 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14895 | 43 | S/I | 73 | None | 0.2685 | None | gnomAD-4.0.0 | 4.78063E-06 | |
14896 | 44 | K/N | 111 | rs2058754432 | 1.0774 | None | gnomAD-3.1.2 | 6.58E-06 | |
14896 | 44 | K/N | 111 | rs2058754432 | 1.0774 | None | gnomAD-4.0.0 | 6.58224E-06 | |
14896 | 44 | K/R | 111 | rs867080281 | 1.0774 | None | gnomAD-4.0.0 | 3.60097E-06 | |
14898 | 46 | Y/C | 121 | None | 0.2142 | None | gnomAD-4.0.0 | 1.59355E-06 | |
14898 | 46 | Y/H | 121 | rs752146866 | 0.2142 | None | gnomAD-2.1.1 | 4.03E-06 | |
14898 | 46 | Y/H | 121 | rs752146866 | 0.2142 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14900 | 48 | I/F | 123 | rs1458633272 | 0.2856 | None | gnomAD-2.1.1 | 4.03E-06 | |
14900 | 48 | I/F | 123 | rs1458633272 | 0.2856 | None | gnomAD-4.0.0 | 6.84613E-07 | |
14900 | 48 | I/T | 123 | rs1237236347 | 0.2856 | None | gnomAD-2.1.1 | 8.06E-06 | |
14900 | 48 | I/T | 123 | rs1237236347 | 0.2856 | None | gnomAD-4.0.0 | 3.18693E-06 | |
14900 | 48 | I/V | 123 | None | 0.2856 | None | gnomAD-4.0.0 | 1.36923E-06 | |
14902 | 50 | A/P | 127 | rs1208525940 | 0.4941 | None | gnomAD-2.1.1 | 7.16E-06 | |
14902 | 50 | A/P | 127 | rs1208525940 | 0.4941 | None | gnomAD-3.1.2 | 6.58E-06 | |
14902 | 50 | A/P | 127 | rs1208525940 | 0.4941 | None | gnomAD-4.0.0 | 2.56566E-06 | |
14903 | 51 | D/Y | 130 | None | 0.7336 | None | gnomAD-4.0.0 | 1.59344E-06 | |
14905 | 53 | R/G | 134 | None | 0.3949 | None | gnomAD-4.0.0 | 1.5934E-06 | |
14905 | 53 | R/K | 134 | None | 0.3949 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14905 | 53 | R/S | 134 | rs1279690538 | 0.3949 | None | gnomAD-3.1.2 | 6.59E-06 | |
14905 | 53 | R/S | 134 | rs1279690538 | 0.3949 | None | gnomAD-4.0.0 | 6.58527E-06 | |
14906 | 54 | V/L | 135 | None | 0.2090 | None | gnomAD-4.0.0 | 1.59336E-06 | |
14909 | 57 | L/F | 138 | None | 0.0717 | None | gnomAD-4.0.0 | 1.5934E-06 | |
14910 | 58 | V/L | 139 | None | 0.1777 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14911 | 59 | I/K | 140 | rs754905274 | 0.0777 | None | gnomAD-2.1.1 | 4.03E-06 | |
14911 | 59 | I/K | 140 | rs754905274 | 0.0777 | None | gnomAD-4.0.0 | 1.59342E-06 | |
14911 | 59 | I/M | 140 | rs751425454 | 0.0777 | None | gnomAD-2.1.1 | 3.23E-05 | |
14911 | 59 | I/M | 140 | rs751425454 | 0.0777 | None | gnomAD-4.0.0 | 1.43767E-05 | |
14911 | 59 | I/T | 140 | rs754905274 | 0.0777 | None | gnomAD-2.1.1 | 4.03E-06 | |
14911 | 59 | I/T | 140 | rs754905274 | 0.0777 | None | gnomAD-3.1.2 | 6.58E-06 | |
14911 | 59 | I/T | 140 | rs754905274 | 0.0777 | None | gnomAD-4.0.0 | 6.57921E-06 | |
14912 | 60 | H/P | 141 | rs2058749191 | 0.4247 | None | gnomAD-3.1.2 | 6.58E-06 | |
14912 | 60 | H/P | 141 | rs2058749191 | 0.4247 | None | gnomAD-4.0.0 | 2.0302E-06 | |
14912 | 60 | H/Q | 141 | rs762830792 | 0.4247 | None | gnomAD-2.1.1 | 8.06E-06 | |
14912 | 60 | H/Q | 141 | rs762830792 | 0.4247 | None | gnomAD-4.0.0 | 1.36921E-06 | |
14912 | 60 | H/R | 141 | None | 0.4247 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14912 | 60 | H/Y | 141 | rs766391823 | 0.4247 | None | gnomAD-2.1.1 | 5.73E-05 | |
14912 | 60 | H/Y | 141 | rs766391823 | 0.4247 | None | gnomAD-3.1.2 | 8.55E-05 | |
14912 | 60 | H/Y | 141 | rs766391823 | 0.4247 | None | gnomAD-4.0.0 | 5.58088E-05 | |
14913 | 61 | D/G | 143 | None | 0.7081 | None | gnomAD-4.0.0 | 6.16141E-06 | |
14913 | 61 | D/N | 143 | None | 0.7081 | None | gnomAD-4.0.0 | 3.18682E-06 | |
14914 | 62 | C/Y | 144 | rs773211286 | 0.0856 | None | gnomAD-2.1.1 | 2.82E-05 | |
14914 | 62 | C/Y | 144 | rs773211286 | 0.0856 | None | gnomAD-4.0.0 | 2.66997E-05 | |
14915 | 63 | T/A | 145 | rs878854310 | 0.2977 | None | gnomAD-4.0.0 | 2.73844E-06 | |
14915 | 63 | T/I | 145 | rs765495409 | 0.2977 | None | gnomAD-2.1.1 | 1.43E-05 | |
14915 | 63 | T/I | 145 | rs765495409 | 0.2977 | None | gnomAD-3.1.2 | 1.97E-05 | |
14915 | 63 | T/I | 145 | rs765495409 | 0.2977 | None | gnomAD-4.0.0 | 5.58112E-06 | |
14916 | 64 | P/L | 146 | None | 0.4959 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14916 | 64 | P/S | 146 | rs2058747129 | 0.4959 | None | gnomAD-4.0.0 | 3.18692E-06 | |
14917 | 65 | E/G | 148 | None | 0.7707 | None | gnomAD-4.0.0 | 4.79232E-06 | |
14917 | 65 | E/K | 148 | None | 0.7707 | None | gnomAD-4.0.0 | 2.05386E-06 | |
14918 | 66 | D/V | 149 | None | 0.1349 | None | gnomAD-4.0.0 | 2.40065E-06 | |
14919 | 67 | I/M | 151 | None | 0.3062 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14920 | 68 | K/T | 152 | None | 0.2051 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14921 | 69 | T/I | 153 | rs776808932 | 0.3221 | None | gnomAD-2.1.1 | 4.03E-06 | |
14921 | 69 | T/I | 153 | rs776808932 | 0.3221 | None | gnomAD-4.0.0 | 2.73851E-06 | |
14922 | 70 | Y/D | 154 | rs1576599425 | 0.1025 | None | gnomAD-3.1.2 | 6.58E-06 | |
14922 | 70 | Y/H | 154 | None | 0.1025 | None | gnomAD-4.0.0 | 2.40065E-06 | |
14923 | 71 | T/S | 155 | rs760857643 | 0.2074 | None | gnomAD-2.1.1 | 4.03E-06 | |
14923 | 71 | T/S | 155 | rs760857643 | 0.2074 | None | gnomAD-4.0.0 | 1.36929E-06 | |
14924 | 72 | C/Y | 156 | None | 0.0614 | None | gnomAD-4.0.0 | 1.59369E-06 | |
14925 | 73 | D/G | 157 | rs775846804 | 0.1904 | None | gnomAD-2.1.1 | 2.82E-05 | |
14925 | 73 | D/G | 157 | rs775846804 | 0.1904 | None | gnomAD-3.1.2 | 1.32E-05 | |
14925 | 73 | D/G | 157 | rs775846804 | 0.1904 | None | gnomAD-4.0.0 | 8.68114E-06 | |
14926 | 74 | A/V | 158 | None | 0.1332 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14928 | 76 | D/N | 161 | rs772700762 | 0.5041 | None | gnomAD-2.1.1 | 4.03E-06 | |
14928 | 76 | D/N | 161 | rs772700762 | 0.5041 | None | gnomAD-4.0.0 | 1.59389E-06 | |
14928 | 76 | D/V | 161 | rs2058743726 | 0.5041 | None | gnomAD-4.0.0 | 6.84692E-07 | |
14931 | 79 | T/A | 164 | rs779264506 | 0.1143 | None | gnomAD-2.1.1 | 1.21E-05 | |
14931 | 79 | T/A | 164 | rs779264506 | 0.1143 | None | gnomAD-3.1.2 | 2.63E-05 | |
14931 | 79 | T/A | 164 | rs779264506 | 0.1143 | None | gnomAD-4.0.0 | 1.61247E-05 | |
14931 | 79 | T/I | 164 | rs1292868903 | 0.1143 | None | gnomAD-3.1.2 | 6.58E-06 | |
14931 | 79 | T/I | 164 | rs1292868903 | 0.1143 | None | gnomAD-4.0.0 | 1.86053E-06 | |
14931 | 79 | T/N | 164 | rs1292868903 | 0.1143 | None | gnomAD-4.0.0 | 1.36943E-06 | |
14931 | 79 | T/S | 164 | None | 0.1143 | None | gnomAD-4.0.0 | 2.73886E-06 | |
14932 | 80 | S/F | 165 | None | 0.3139 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14933 | 81 | C/R | 166 | rs1238423083 | 0.0965 | None | gnomAD-2.1.1 | 4.03E-06 | |
14933 | 81 | C/R | 166 | rs1238423083 | 0.0965 | None | gnomAD-4.0.0 | 1.59414E-06 | |
14933 | 81 | C/Y | 166 | None | 0.0965 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14934 | 82 | N/K | 168 | None | 0.4023 | None | gnomAD-4.0.0 | 6.84769E-07 | |
14935 | 83 | L/V | 174 | rs1230286076 | 0.1191 | None | gnomAD-3.1.2 | 6.58E-06 | |
14935 | 83 | L/V | 174 | rs1230286076 | 0.1191 | None | gnomAD-4.0.0 | 6.58172E-06 |