10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | I | F | I | K | E | V | S | N | A | D | I | S | M | G | D | V | A | T | L | S | V | T | V | I | G | I | P | K | P | K | I | Q | W | F | F | N | G | V | L | L | T | P | S | A | D | Y | K | F | V | F | D | G | D | D | H | S | L | I | I | L | F | T | K | L | E | D | E | G | E | Y | T | C | M | A | S | N | D | Y | G | K | T | I | C | S | A | Y | L | K | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
3820 | 1 | P/S | 1 | None | 0.1818 | None | gnomAD-4.0.0 | 1.59188E-06 | |
3821 | 2 | I/V | 2 | rs867402675 | 0.6839 | None | gnomAD-3.1.2 | 6.57E-06 | |
3821 | 2 | I/V | 2 | rs867402675 | 0.6839 | None | gnomAD-4.0.0 | 1.3015E-05 | |
3823 | 4 | I/F | 4 | rs1233837931 | 0.6156 | None | gnomAD-2.1.1 | 4.03E-06 | |
3823 | 4 | I/F | 4 | rs1233837931 | 0.6156 | None | gnomAD-4.0.0 | 1.59176E-06 | |
3824 | 5 | K/E | 5 | None | 0.4602 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3825 | 6 | E/D | 7 | None | 0.5073 | None | gnomAD-4.0.0 | 1.36857E-06 | |
3826 | 7 | V/L | 8 | rs1285885042 | 0.1734 | None | gnomAD-2.1.1 | 1.21E-05 | |
3826 | 7 | V/L | 8 | rs1285885042 | 0.1734 | None | gnomAD-4.0.0 | 3.18339E-06 | |
3828 | 9 | N/H | 11 | None | 0.7025 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3828 | 9 | N/K | 11 | None | 0.7025 | None | gnomAD-4.0.0 | 1.59162E-06 | |
3828 | 9 | N/S | 11 | None | 0.7025 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3829 | 10 | A/G | 13 | rs778583163 | 0.2601 | None | gnomAD-2.1.1 | 8.05E-06 | |
3829 | 10 | A/G | 13 | rs778583163 | 0.2601 | None | gnomAD-4.0.0 | 3.18325E-06 | |
3829 | 10 | A/S | 13 | rs745332301 | 0.2601 | None | gnomAD-2.1.1 | 4.02E-06 | |
3829 | 10 | A/S | 13 | rs745332301 | 0.2601 | None | gnomAD-4.0.0 | 1.59163E-06 | |
3829 | 10 | A/V | 13 | rs778583163 | 0.2601 | None | gnomAD-2.1.1 | 4.02E-06 | |
3829 | 10 | A/V | 13 | rs778583163 | 0.2601 | None | gnomAD-4.0.0 | 1.59163E-06 | |
3831 | 12 | I/M | 16 | rs1183777377 | 0.2467 | None | gnomAD-2.1.1 | 3.19E-05 | |
3831 | 12 | I/M | 16 | rs1183777377 | 0.2467 | None | gnomAD-3.1.2 | 1.97E-05 | |
3831 | 12 | I/M | 16 | rs1183777377 | 0.2467 | None | gnomAD-4.0.0 | 6.40653E-06 | |
3831 | 12 | I/T | 16 | None | 0.2467 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3832 | 13 | S/I | 18 | None | 0.3815 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3833 | 14 | M/I | 23 | rs756868500 | 0.4264 | None | gnomAD-2.1.1 | 2.01E-05 | |
3833 | 14 | M/I | 23 | rs756868500 | 0.4264 | None | gnomAD-3.1.2 | 1.31E-05 | |
3833 | 14 | M/I | 23 | rs756868500 | 0.4264 | None | gnomAD-4.0.0 | 1.02505E-05 | |
3833 | 14 | M/T | 23 | rs2082519187 | 0.4264 | None | gnomAD-4.0.0 | 6.84255E-06 | |
3833 | 14 | M/V | 23 | None | 0.4264 | None | gnomAD-4.0.0 | 1.59152E-06 | |
3834 | 15 | G/R | 24 | rs749170112 | 0.2461 | None | gnomAD-2.1.1 | 8.05E-06 | |
3834 | 15 | G/R | 24 | rs749170112 | 0.2461 | None | gnomAD-4.0.0 | 3.18305E-06 | |
3835 | 16 | D/G | 25 | rs1453631686 | 0.4645 | None | gnomAD-2.1.1 | 4.02E-06 | |
3835 | 16 | D/Y | 25 | rs1303962639 | 0.4645 | None | gnomAD-2.1.1 | 4.02E-06 | |
3835 | 16 | D/Y | 25 | rs1303962639 | 0.4645 | None | gnomAD-4.0.0 | 1.5915E-06 | |
3836 | 17 | V/A | 26 | None | 0.3824 | None | gnomAD-4.0.0 | 1.59149E-06 | |
3836 | 17 | V/M | 26 | rs397517825 | 0.3824 | None | gnomAD-2.1.1 | 8.50061E-04 | |
3836 | 17 | V/M | 26 | rs397517825 | 0.3824 | None | gnomAD-3.1.2 | 2.03711E-04 | |
3836 | 17 | V/M | 26 | rs397517825 | 0.3824 | None | 1000 genomes | 7.98722E-04 | |
3836 | 17 | V/M | 26 | rs397517825 | 0.3824 | None | gnomAD-4.0.0 | 4.07748E-04 | |
3838 | 19 | T/I | 29 | None | 0.4574 | None | gnomAD-4.0.0 | 1.36853E-06 | |
3838 | 19 | T/K | 29 | rs752583542 | 0.4574 | None | gnomAD-4.0.0 | 1.36854E-06 | |
3840 | 21 | S/C | 31 | None | 0.2667 | None | gnomAD-4.0.0 | 6.84241E-07 | |
3840 | 21 | S/F | 31 | None | 0.2667 | None | gnomAD-4.0.0 | 6.84241E-07 | |
3841 | 22 | V/I | 33 | rs755132807 | 0.0897 | None | gnomAD-2.1.1 | 2.14E-05 | |
3841 | 22 | V/I | 33 | rs755132807 | 0.0897 | None | gnomAD-3.1.2 | 1.31E-05 | |
3841 | 22 | V/I | 33 | rs755132807 | 0.0897 | None | gnomAD-4.0.0 | 2.35496E-05 | |
3843 | 24 | V/A | 35 | rs766747906 | 0.1240 | None | gnomAD-2.1.1 | 2.14E-05 | |
3843 | 24 | V/A | 35 | rs766747906 | 0.1240 | None | gnomAD-3.1.2 | 6.57E-06 | |
3843 | 24 | V/A | 35 | rs766747906 | 0.1240 | None | gnomAD-4.0.0 | 3.84354E-06 | |
3844 | 25 | I/S | 38 | None | 0.4357 | None | gnomAD-4.0.0 | 6.84224E-07 | |
3844 | 25 | I/T | 38 | rs1257974534 | 0.4357 | None | gnomAD-2.1.1 | 7.14E-06 | |
3844 | 25 | I/T | 38 | rs1257974534 | 0.4357 | None | gnomAD-3.1.2 | 6.57E-06 | |
3844 | 25 | I/T | 38 | rs1257974534 | 0.4357 | None | gnomAD-4.0.0 | 8.67531E-06 | |
3844 | 25 | I/V | 38 | rs1266364042 | 0.4357 | None | gnomAD-3.1.2 | 6.57E-06 | |
3844 | 25 | I/V | 38 | rs1266364042 | 0.4357 | None | gnomAD-4.0.0 | 2.56241E-06 | |
3845 | 26 | G/D | 40 | None | 0.2260 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3845 | 26 | G/S | 40 | None | 0.2260 | None | gnomAD-4.0.0 | 1.59134E-06 | |
3848 | 29 | K/E | 43 | None | 0.4006 | None | gnomAD-4.0.0 | 6.84212E-07 | |
3849 | 30 | P/L | 44 | rs727503662 | 0.1691 | None | gnomAD-4.0.0 | 2.05263E-06 | |
3850 | 31 | K/E | 45 | None | 0.5937 | None | gnomAD-4.0.0 | 1.59128E-06 | |
3850 | 31 | K/R | 45 | rs763263943 | 0.5937 | None | gnomAD-2.1.1 | 4.02E-06 | |
3850 | 31 | K/R | 45 | rs763263943 | 0.5937 | None | gnomAD-4.0.0 | 1.59128E-06 | |
3851 | 32 | I/T | 46 | None | 0.1859 | None | gnomAD-4.0.0 | 5.47367E-06 | |
3852 | 33 | Q/L | 47 | None | 0.2955 | None | gnomAD-4.0.0 | 1.59123E-06 | |
3854 | 35 | F/L | 49 | rs2082510082 | 0.1755 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3855 | 36 | F/L | 50 | rs1051510859 | 0.1420 | None | gnomAD-2.1.1 | 2.14E-05 | |
3855 | 36 | F/L | 50 | rs1051510859 | 0.1420 | None | gnomAD-3.1.2 | 5.91E-05 | |
3855 | 36 | F/L | 50 | rs1051510859 | 0.1420 | None | gnomAD-4.0.0 | 1.85904E-05 | |
3856 | 37 | N/S | 51 | rs765523683 | 0.4395 | None | gnomAD-2.1.1 | 1.43E-05 | |
3856 | 37 | N/S | 51 | rs765523683 | 0.4395 | None | gnomAD-3.1.2 | 1.97E-05 | |
3856 | 37 | N/S | 51 | rs765523683 | 0.4395 | None | gnomAD-4.0.0 | 1.30133E-05 | |
3857 | 38 | G/R | 52 | rs777025488 | 0.4321 | None | gnomAD-4.0.0 | 1.27299E-05 | |
3858 | 39 | V/A | 55 | rs1242111129 | 0.6065 | None | gnomAD-4.0.0 | 3.18242E-06 | |
3861 | 42 | T/I | 59 | rs1214393200 | 0.6049 | None | gnomAD-2.1.1 | 3.18E-05 | |
3861 | 42 | T/I | 59 | rs1214393200 | 0.6049 | None | gnomAD-3.1.2 | 6.57E-06 | |
3861 | 42 | T/I | 59 | rs1214393200 | 0.6049 | None | gnomAD-4.0.0 | 6.57134E-06 | |
3862 | 43 | P/R | 70 | rs201652675 | 0.4624 | None | gnomAD-2.1.1 | 4.83E-05 | |
3862 | 43 | P/R | 70 | rs201652675 | 0.4624 | None | gnomAD-3.1.2 | 5.26E-05 | |
3862 | 43 | P/R | 70 | rs201652675 | 0.4624 | None | gnomAD-4.0.0 | 7.12636E-05 | |
3862 | 43 | P/S | 70 | rs375406698 | 0.4624 | None | gnomAD-4.0.0 | 1.36839E-06 | |
3862 | 43 | P/T | 70 | rs375406698 | 0.4624 | None | gnomAD-2.1.1 | 1.21E-05 | |
3862 | 43 | P/T | 70 | rs375406698 | 0.4624 | None | gnomAD-3.1.2 | 1.31E-05 | |
3862 | 43 | P/T | 70 | rs375406698 | 0.4624 | None | gnomAD-4.0.0 | 1.79712E-05 | |
3863 | 44 | S/F | 73 | None | 0.2420 | None | gnomAD-4.0.0 | 6.84196E-07 | |
3863 | 44 | S/Y | 73 | None | 0.2420 | None | gnomAD-4.0.0 | 6.84196E-07 | |
3864 | 45 | A/P | 111 | rs748910775 | 0.5457 | None | gnomAD-2.1.1 | 4.02E-06 | |
3864 | 45 | A/P | 111 | rs748910775 | 0.5457 | None | gnomAD-4.0.0 | 6.84199E-07 | |
3864 | 45 | A/T | 111 | rs748910775 | 0.5457 | None | gnomAD-3.1.2 | 6.57E-06 | |
3864 | 45 | A/T | 111 | rs748910775 | 0.5457 | None | gnomAD-4.0.0 | 4.33793E-06 | |
3866 | 47 | Y/H | 121 | rs777421661 | 0.2548 | None | gnomAD-2.1.1 | 8.04E-06 | |
3866 | 47 | Y/H | 121 | rs777421661 | 0.2548 | None | gnomAD-3.1.2 | 6.57E-06 | |
3866 | 47 | Y/H | 121 | rs777421661 | 0.2548 | None | gnomAD-4.0.0 | 1.85889E-06 | |
3867 | 48 | K/R | 122 | rs769510047 | 0.2809 | None | gnomAD-2.1.1 | 4.02E-06 | |
3867 | 48 | K/R | 122 | rs769510047 | 0.2809 | None | gnomAD-4.0.0 | 3.18239E-06 | |
3868 | 49 | F/C | 123 | None | 0.3440 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3868 | 49 | F/L | 123 | rs727504700 | 0.3440 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3869 | 50 | V/L | 125 | rs747929496 | 0.4472 | None | gnomAD-2.1.1 | 4.02E-06 | |
3869 | 50 | V/L | 125 | rs747929496 | 0.4472 | None | gnomAD-4.0.0 | 7.52617E-06 | |
3870 | 51 | F/S | 127 | None | 0.4960 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3872 | 53 | G/D | 131 | rs751755895 | 0.3507 | None | gnomAD-4.0.0 | 1.3684E-06 | |
3872 | 53 | G/S | 131 | rs754936734 | 0.3507 | None | gnomAD-2.1.1 | 1.07E-05 | |
3872 | 53 | G/S | 131 | rs754936734 | 0.3507 | None | gnomAD-3.1.2 | 2.63E-05 | |
3872 | 53 | G/S | 131 | rs754936734 | 0.3507 | None | gnomAD-4.0.0 | 1.17745E-05 | |
3872 | 53 | G/V | 131 | rs751755895 | 0.3507 | None | gnomAD-2.1.1 | 1.43E-05 | |
3872 | 53 | G/V | 131 | rs751755895 | 0.3507 | None | gnomAD-3.1.2 | 3.29E-05 | |
3872 | 53 | G/V | 131 | rs751755895 | 0.3507 | None | gnomAD-4.0.0 | 6.1969E-05 | |
3873 | 54 | D/H | 134 | rs1435923406 | 0.4603 | None | gnomAD-3.1.2 | 6.57E-06 | |
3873 | 54 | D/H | 134 | rs1435923406 | 0.4603 | None | gnomAD-4.0.0 | 6.57186E-06 | |
3875 | 56 | H/R | 136 | None | 0.1908 | None | gnomAD-4.0.0 | 1.59122E-06 | |
3878 | 59 | I/N | 139 | None | 0.2532 | None | gnomAD-4.0.0 | 6.84195E-07 | |
3878 | 59 | I/T | 139 | None | 0.2532 | None | gnomAD-4.0.0 | 1.36839E-06 | |
3879 | 60 | I/V | 140 | rs765448965 | 0.0912 | None | gnomAD-2.1.1 | 4.02E-06 | |
3879 | 60 | I/V | 140 | rs765448965 | 0.0912 | None | gnomAD-4.0.0 | 3.42096E-06 | |
3880 | 61 | L/V | 141 | rs762132549 | 0.2866 | None | gnomAD-2.1.1 | 4.02E-06 | |
3880 | 61 | L/V | 141 | rs762132549 | 0.2866 | None | gnomAD-4.0.0 | 1.59118E-06 | |
3882 | 63 | T/A | 144 | rs2082491063 | 0.1106 | None | gnomAD-3.1.2 | 6.57E-06 | |
3882 | 63 | T/A | 144 | rs2082491063 | 0.1106 | None | gnomAD-4.0.0 | 6.57333E-06 | |
3883 | 64 | K/R | 145 | rs764648076 | 0.3712 | None | gnomAD-2.1.1 | 2.01E-05 | |
3883 | 64 | K/R | 145 | rs764648076 | 0.3712 | None | gnomAD-3.1.2 | 6.57E-06 | |
3883 | 64 | K/R | 145 | rs764648076 | 0.3712 | None | gnomAD-4.0.0 | 5.57711E-06 | |
3883 | 64 | K/T | 145 | rs764648076 | 0.3712 | None | gnomAD-2.1.1 | 3.19E-05 | |
3883 | 64 | K/T | 145 | rs764648076 | 0.3712 | None | gnomAD-3.1.2 | 6.57E-06 | |
3883 | 64 | K/T | 145 | rs764648076 | 0.3712 | None | gnomAD-4.0.0 | 6.5722E-06 | |
3884 | 65 | L/W | 146 | rs2082489145 | 0.7759 | None | gnomAD-4.0.0 | 1.59118E-06 | |
3885 | 66 | E/Q | 148 | rs761154231 | 0.6309 | None | gnomAD-2.1.1 | 4.02E-06 | |
3885 | 66 | E/Q | 148 | rs761154231 | 0.6309 | None | gnomAD-4.0.0 | 1.36839E-06 | |
3886 | 67 | D/E | 149 | rs1300492136 | 0.1605 | None | gnomAD-2.1.1 | 4.02E-06 | |
3886 | 67 | D/E | 149 | rs1300492136 | 0.1605 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3889 | 70 | E/A | 153 | None | 0.3922 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3889 | 70 | E/D | 153 | rs377423256 | 0.3922 | None | gnomAD-2.1.1 | 1.43E-05 | |
3889 | 70 | E/D | 153 | rs377423256 | 0.3922 | None | gnomAD-3.1.2 | 5.92E-05 | |
3889 | 70 | E/D | 153 | rs377423256 | 0.3922 | None | gnomAD-4.0.0 | 1.05351E-05 | |
3891 | 72 | T/I | 155 | rs148164929 | 0.1993 | None | gnomAD-2.1.1 | 5.10911E-04 | |
3891 | 72 | T/I | 155 | rs148164929 | 0.1993 | None | gnomAD-3.1.2 | 8.48126E-04 | |
3891 | 72 | T/I | 155 | rs148164929 | 0.1993 | None | 1000 genomes | 1.19808E-03 | |
3891 | 72 | T/I | 155 | rs148164929 | 0.1993 | None | gnomAD-4.0.0 | 2.91238E-04 | |
3891 | 72 | T/K | 155 | None | 0.1993 | None | gnomAD-4.0.0 | 2.05257E-06 | |
3892 | 73 | C/S | 156 | None | 0.0683 | None | gnomAD-4.0.0 | 1.59118E-06 | |
3893 | 74 | M/I | 157 | rs2154318912 | 0.1688 | None | gnomAD-4.0.0 | 3.18234E-06 | |
3893 | 74 | M/T | 157 | rs1553941782 | 0.1688 | None | gnomAD-3.1.2 | 1.31E-05 | |
3893 | 74 | M/T | 157 | rs1553941782 | 0.1688 | None | gnomAD-4.0.0 | 5.57719E-06 | |
3895 | 76 | S/C | 159 | rs772765158 | 0.2849 | None | gnomAD-2.1.1 | 4.02E-06 | |
3895 | 76 | S/C | 159 | rs772765158 | 0.2849 | None | gnomAD-4.0.0 | 4.77351E-06 | |
3895 | 76 | S/N | 159 | rs769466475 | 0.2849 | None | gnomAD-2.1.1 | 4.02E-06 | |
3895 | 76 | S/N | 159 | rs769466475 | 0.2849 | None | gnomAD-3.1.2 | 6.57E-06 | |
3895 | 76 | S/N | 159 | rs769466475 | 0.2849 | None | gnomAD-4.0.0 | 2.85052E-05 | |
3895 | 76 | S/T | 159 | None | 0.2849 | None | gnomAD-4.0.0 | 1.3684E-06 | |
3896 | 77 | N/S | 161 | rs1207560844 | 0.1490 | None | gnomAD-3.1.2 | 6.57E-06 | |
3896 | 77 | N/S | 161 | rs1207560844 | 0.1490 | None | gnomAD-4.0.0 | 2.47863E-06 | |
3897 | 78 | D/E | 162 | None | 0.7673 | None | gnomAD-4.0.0 | 4.80129E-06 | |
3897 | 78 | D/N | 162 | None | 0.7673 | None | gnomAD-4.0.0 | 7.52618E-06 | |
3897 | 78 | D/V | 162 | rs2082481128 | 0.7673 | None | gnomAD-4.0.0 | 4.78933E-06 | |
3897 | 78 | D/Y | 162 | rs1300532206 | 0.7673 | None | gnomAD-2.1.1 | 3.19E-05 | |
3897 | 78 | D/Y | 162 | rs1300532206 | 0.7673 | None | gnomAD-3.1.2 | 6.57E-06 | |
3897 | 78 | D/Y | 162 | rs1300532206 | 0.7673 | None | gnomAD-4.0.0 | 8.67564E-06 | |
3898 | 79 | Y/C | 163 | rs747933911 | 0.9050 | None | gnomAD-2.1.1 | 4.02E-06 | |
3898 | 79 | Y/C | 163 | rs747933911 | 0.9050 | None | gnomAD-4.0.0 | 1.59116E-06 | |
3898 | 79 | Y/D | 163 | rs1553941743 | 0.9050 | None | gnomAD-4.0.0 | 4.77348E-06 | |
3899 | 80 | G/R | 164 | None | 0.2901 | None | gnomAD-4.0.0 | 1.59119E-06 | |
3900 | 81 | K/N | 165 | None | 0.5467 | None | gnomAD-4.0.0 | 1.59119E-06 | |
3901 | 82 | T/I | 166 | rs1388046179 | 0.1996 | None | gnomAD-2.1.1 | 4.02E-06 | |
3901 | 82 | T/I | 166 | rs1388046179 | 0.1996 | None | gnomAD-4.0.0 | 1.36839E-06 | |
3902 | 83 | I/M | 168 | rs368845723 | 0.6593 | None | gnomAD-2.1.1 | 3.18E-05 | |
3902 | 83 | I/M | 168 | rs368845723 | 0.6593 | None | gnomAD-3.1.2 | 1.31E-05 | |
3902 | 83 | I/M | 168 | rs368845723 | 0.6593 | None | gnomAD-4.0.0 | 4.95726E-06 | |
3903 | 84 | C/R | 169 | None | 0.1078 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3904 | 85 | S/R | 171 | None | 0.3699 | None | gnomAD-4.0.0 | 1.59114E-06 | |
3906 | 87 | Y/C | 173 | rs375020177 | 0.3494 | None | gnomAD-2.1.1 | 1.07E-05 | |
3906 | 87 | Y/C | 173 | rs375020177 | 0.3494 | None | gnomAD-3.1.2 | 1.31E-05 | |
3906 | 87 | Y/C | 173 | rs375020177 | 0.3494 | None | gnomAD-4.0.0 | 4.33767E-06 | |
3907 | 88 | L/V | 174 | rs55853696 | 0.1100 | None | gnomAD-2.1.1 | 3.57582E-03 | |
3907 | 88 | L/V | 174 | rs55853696 | 0.1100 | None | gnomAD-3.1.2 | 1.10132E-02 | |
3907 | 88 | L/V | 174 | rs55853696 | 0.1100 | None | 1000 genomes | 1.21805E-02 | |
3907 | 88 | L/V | 174 | rs55853696 | 0.1100 | None | gnomAD-4.0.0 | 1.98722E-03 | |
3909 | 90 | I/L | 178 | None | 0.1336 | None | gnomAD-4.0.0 | 3.60097E-06 | |
3909 | 90 | I/T | 178 | rs1452766565 | 0.1336 | None | gnomAD-2.1.1 | 4.02E-06 | |
3909 | 90 | I/T | 178 | rs1452766565 | 0.1336 | None | gnomAD-4.0.0 | 8.21015E-06 | |
3909 | 90 | I/V | 178 | None | 0.1336 | None | gnomAD-4.0.0 | 1.20032E-06 |