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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
13876 | 1 | L/M | 3 | None | 0.4150 | None | gnomAD-4.0.0 | 1.62411E-06 | |
13877 | 2 | V/A | 4 | rs199969810 | 0.4208 | None | gnomAD-4.0.0 | 1.63166E-06 | |
13877 | 2 | V/G | 4 | rs199969810 | 0.4208 | None | gnomAD-4.0.0 | 2.87175E-04 | |
13877 | 2 | V/M | 4 | rs1272825852 | 0.4208 | None | gnomAD-2.1.1 | 4.36E-06 | |
13877 | 2 | V/M | 4 | rs1272825852 | 0.4208 | None | gnomAD-3.1.2 | 6.58E-06 | |
13877 | 2 | V/M | 4 | rs1272825852 | 0.4208 | None | gnomAD-4.0.0 | 3.90504E-06 | |
13878 | 3 | K/N | 5 | None | 0.4526 | None | gnomAD-4.0.0 | 6.89888E-07 | |
13880 | 5 | I/L | 8 | rs1228888611 | 0.1736 | None | gnomAD-2.1.1 | 4.34E-06 | |
13880 | 5 | I/L | 8 | rs1228888611 | 0.1736 | None | gnomAD-4.0.0 | 6.89641E-07 | |
13880 | 5 | I/M | 8 | None | 0.1736 | None | gnomAD-4.0.0 | 2.06898E-06 | |
13880 | 5 | I/T | 8 | None | 0.1736 | None | gnomAD-4.0.0 | 1.62095E-06 | |
13880 | 5 | I/V | 8 | None | 0.1736 | None | gnomAD-4.0.0 | 6.89641E-07 | |
13881 | 6 | R/G | 9 | rs747469275 | 0.8532 | None | gnomAD-2.1.1 | 8.71E-06 | |
13881 | 6 | R/G | 9 | rs747469275 | 0.8532 | None | gnomAD-3.1.2 | 2.63E-05 | |
13881 | 6 | R/G | 9 | rs747469275 | 0.8532 | None | gnomAD-4.0.0 | 2.08244E-05 | |
13881 | 6 | R/L | 9 | None | 0.8532 | None | gnomAD-4.0.0 | 6.89825E-07 | |
13881 | 6 | R/Q | 9 | rs1268138413 | 0.8532 | None | gnomAD-2.1.1 | 1.31E-05 | |
13881 | 6 | R/Q | 9 | rs1268138413 | 0.8532 | None | gnomAD-3.1.2 | 6.58E-06 | |
13881 | 6 | R/Q | 9 | rs1268138413 | 0.8532 | None | gnomAD-4.0.0 | 6.24394E-06 | |
13883 | 8 | Q/K | 13 | None | 0.2547 | None | gnomAD-4.0.0 | 1.62151E-06 | |
13884 | 9 | H/Q | 14 | rs1361052408 | 0.5773 | None | gnomAD-2.1.1 | 3.19E-05 | |
13884 | 9 | H/Q | 14 | rs1361052408 | 0.5773 | None | gnomAD-3.1.2 | 6.58E-06 | |
13884 | 9 | H/Q | 14 | rs1361052408 | 0.5773 | None | gnomAD-4.0.0 | 2.49721E-06 | |
13884 | 9 | H/R | 14 | rs1432673437 | 0.5773 | None | gnomAD-2.1.1 | 4.34E-06 | |
13884 | 9 | H/R | 14 | rs1432673437 | 0.5773 | None | gnomAD-4.0.0 | 6.89733E-06 | |
13884 | 9 | H/Y | 14 | None | 0.5773 | None | gnomAD-4.0.0 | 1.62177E-06 | |
13886 | 11 | K/T | 18 | None | 0.9501 | None | gnomAD-4.0.0 | 6.89835E-07 | |
13887 | 12 | P/R | 23 | rs1388854623 | 0.7456 | None | gnomAD-2.1.1 | 8.73E-06 | |
13887 | 12 | P/R | 23 | rs1388854623 | 0.7456 | None | gnomAD-4.0.0 | 4.83038E-06 | |
13887 | 12 | P/S | 23 | None | 0.7456 | None | gnomAD-4.0.0 | 1.62346E-06 | |
13888 | 13 | K/N | 24 | rs1459382951 | 0.6875 | None | gnomAD-2.1.1 | 4.38E-06 | |
13888 | 13 | K/N | 24 | rs1459382951 | 0.6875 | None | gnomAD-4.0.0 | 1.13721E-05 | |
13888 | 13 | K/R | 24 | rs1324858653 | 0.6875 | None | gnomAD-4.0.0 | 1.62396E-06 | |
13889 | 14 | G/A | 25 | rs1029116705 | 0.2179 | None | gnomAD-4.0.0 | 3.45193E-06 | |
13889 | 14 | G/E | 25 | rs1029116705 | 0.2179 | None | gnomAD-2.1.1 | 4.39E-06 | |
13889 | 14 | G/E | 25 | rs1029116705 | 0.2179 | None | gnomAD-4.0.0 | 6.90386E-07 | |
13890 | 15 | T/I | 26 | rs780566983 | 0.4513 | None | gnomAD-2.1.1 | 4.41E-06 | |
13890 | 15 | T/I | 26 | rs780566983 | 0.4513 | None | gnomAD-4.0.0 | 2.07224E-06 | |
13890 | 15 | T/R | 26 | rs780566983 | 0.4513 | None | gnomAD-4.0.0 | 1.38149E-06 | |
13892 | 17 | I/M | 29 | None | 0.4041 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13894 | 19 | A/V | 31 | rs1409834949 | 0.2745 | None | gnomAD-2.1.1 | 4.46E-06 | |
13894 | 19 | A/V | 31 | rs1409834949 | 0.2745 | None | gnomAD-4.0.0 | 1.63189E-06 | |
13896 | 21 | D/N | 34 | rs371312327 | 0.2110 | None | gnomAD-2.1.1 | 4.49E-06 | |
13896 | 21 | D/V | 34 | None | 0.2110 | None | gnomAD-4.0.0 | 1.63394E-06 | |
13897 | 22 | I/T | 35 | rs1288360484 | 0.1723 | None | gnomAD-3.1.2 | 6.58E-06 | |
13897 | 22 | I/T | 35 | rs1288360484 | 0.1723 | None | gnomAD-4.0.0 | 3.75826E-06 | |
13898 | 23 | A/G | 38 | None | 0.2077 | None | gnomAD-4.0.0 | 1.6384E-06 | |
13900 | 25 | D/H | 42 | rs1188616797 | 0.6821 | None | gnomAD-2.1.1 | 9.13E-06 | |
13900 | 25 | D/H | 42 | rs1188616797 | 0.6821 | None | gnomAD-4.0.0 | 3.28008E-06 | |
13901 | 26 | T/P | 43 | None | 0.2413 | None | gnomAD-4.0.0 | 4.80129E-06 | |
13901 | 26 | T/S | 43 | None | 0.2413 | None | gnomAD-4.0.0 | 1.64096E-06 | |
13902 | 27 | P/T | 44 | rs865776326 | 0.4047 | None | gnomAD-4.0.0 | 1.64128E-06 | |
13906 | 31 | W/R | 48 | None | 0.1311 | None | gnomAD-4.0.0 | 1.64324E-06 | |
13907 | 32 | F/L | 49 | rs1192032110 | 0.1007 | None | gnomAD-4.0.0 | 2.08134E-06 | |
13908 | 33 | K/R | 50 | None | 0.2460 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13909 | 34 | G/V | 51 | None | 0.3051 | None | gnomAD-4.0.0 | 6.93745E-07 | |
13910 | 35 | Y/C | 52 | rs1469876306 | 1.0740 | None | gnomAD-4.0.0 | 1.64326E-06 | |
13911 | 36 | D/N | 55 | rs1209898521 | 0.7063 | None | gnomAD-4.0.0 | 6.93692E-07 | |
13911 | 36 | D/Y | 55 | rs1209898521 | 0.7063 | None | gnomAD-3.1.2 | 6.58E-06 | |
13911 | 36 | D/Y | 55 | rs1209898521 | 0.7063 | None | gnomAD-4.0.0 | 6.57774E-06 | |
13912 | 37 | E/D | 56 | rs779199526 | 0.3313 | None | gnomAD-2.1.1 | 4.59E-06 | |
13913 | 38 | I/V | 58 | None | 0.1724 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13914 | 39 | P/S | 59 | rs755785975 | 0.5965 | None | gnomAD-2.1.1 | 1.2E-05 | |
13914 | 39 | P/S | 59 | rs755785975 | 0.5965 | None | gnomAD-3.1.2 | 6.58E-06 | |
13914 | 39 | P/S | 59 | rs755785975 | 0.5965 | None | gnomAD-4.0.0 | 1.25469E-06 | |
13915 | 40 | A/V | 70 | rs371426048 | 0.6702 | None | gnomAD-2.1.1 | 6.9E-05 | |
13915 | 40 | A/V | 70 | rs371426048 | 0.6702 | None | gnomAD-3.1.2 | 3.29E-05 | |
13915 | 40 | A/V | 70 | rs371426048 | 0.6702 | None | gnomAD-4.0.0 | 3.76528E-05 | |
13916 | 41 | E/D | 71 | None | 0.9187 | None | gnomAD-4.0.0 | 1.64186E-06 | |
13916 | 41 | E/K | 71 | None | 0.9187 | None | gnomAD-4.0.0 | 6.93514E-07 | |
13917 | 42 | P/A | 72 | rs2060335468 | 0.6495 | None | gnomAD-3.1.2 | 6.59E-06 | |
13917 | 42 | P/A | 72 | rs2060335468 | 0.6495 | None | gnomAD-4.0.0 | 6.58709E-06 | |
13917 | 42 | P/R | 72 | rs754567722 | 0.6495 | None | gnomAD-2.1.1 | 2.31E-05 | |
13917 | 42 | P/R | 72 | rs754567722 | 0.6495 | None | gnomAD-3.1.2 | 1.32E-05 | |
13917 | 42 | P/R | 72 | rs754567722 | 0.6495 | None | gnomAD-4.0.0 | 1.00418E-05 | |
13917 | 42 | P/S | 72 | None | 0.6495 | None | gnomAD-4.0.0 | 6.93544E-07 | |
13918 | 43 | N/D | 73 | rs2060334868 | 0.3429 | None | gnomAD-4.0.0 | 3.46618E-06 | |
13918 | 43 | N/K | 73 | rs1396769268 | 0.3429 | None | gnomAD-2.1.1 | 3.19E-05 | |
13918 | 43 | N/K | 73 | rs1396769268 | 0.3429 | None | gnomAD-3.1.2 | 1.32E-05 | |
13918 | 43 | N/K | 73 | rs1396769268 | 0.3429 | None | gnomAD-4.0.0 | 1.3152E-05 | |
13919 | 44 | D/G | 111 | rs2060334191 | 1.0645 | None | gnomAD-4.0.0 | 6.56463E-06 | |
13920 | 45 | K/Q | 115 | None | 0.2414 | None | gnomAD-4.0.0 | 6.93226E-07 | |
13920 | 45 | K/R | 115 | rs751156425 | 0.2414 | None | gnomAD-2.1.1 | 9.15E-06 | |
13920 | 45 | K/R | 115 | rs751156425 | 0.2414 | None | gnomAD-4.0.0 | 3.281E-06 | |
13921 | 46 | T/A | 121 | None | 0.2481 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13921 | 46 | T/I | 121 | None | 0.2481 | None | gnomAD-4.0.0 | 6.93129E-07 | |
13925 | 50 | R/G | 127 | None | 0.4942 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13925 | 50 | R/T | 127 | None | 0.4942 | None | gnomAD-4.0.0 | 6.92981E-07 | |
13926 | 51 | D/G | 130 | None | 0.7062 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13926 | 51 | D/N | 130 | rs2060332594 | 0.7062 | None | gnomAD-4.0.0 | 2.56338E-05 | |
13927 | 52 | G/R | 131 | rs758326922 | 0.3891 | None | gnomAD-2.1.1 | 9.07E-06 | |
13927 | 52 | G/R | 131 | rs758326922 | 0.3891 | None | gnomAD-3.1.2 | 1.32E-05 | |
13927 | 52 | G/R | 131 | rs758326922 | 0.3891 | None | gnomAD-4.0.0 | 1.37868E-05 | |
13927 | 52 | G/V | 131 | None | 0.3891 | None | gnomAD-4.0.0 | 1.63738E-06 | |
13929 | 54 | H/Q | 135 | None | 0.5042 | None | gnomAD-4.0.0 | 1.63521E-06 | |
13931 | 56 | Y/C | 137 | None | 0.3587 | None | gnomAD-4.0.0 | 1.38395E-06 | |
13931 | 56 | Y/H | 137 | rs1162801145 | 0.3587 | None | gnomAD-2.1.1 | 3.19E-05 | |
13931 | 56 | Y/H | 137 | rs1162801145 | 0.3587 | None | gnomAD-3.1.2 | 6.57E-06 | |
13931 | 56 | Y/H | 137 | rs1162801145 | 0.3587 | None | gnomAD-4.0.0 | 6.57488E-06 | |
13936 | 61 | N/H | 143 | None | 0.4948 | None | gnomAD-4.0.0 | 2.07122E-06 | |
13937 | 62 | A/D | 144 | None | 0.1403 | None | gnomAD-4.0.0 | 6.90088E-07 | |
13937 | 62 | A/V | 144 | rs545806408 | 0.1403 | None | gnomAD-2.1.1 | 4.2682E-04 | |
13937 | 62 | A/V | 144 | rs545806408 | 0.1403 | None | gnomAD-3.1.2 | 1.31581E-04 | |
13937 | 62 | A/V | 144 | rs545806408 | 0.1403 | None | 1000 genomes | 1.39776E-03 | |
13937 | 62 | A/V | 144 | rs545806408 | 0.1403 | None | gnomAD-4.0.0 | 1.69248E-04 | |
13938 | 63 | M/V | 145 | rs201725483 | 0.2807 | None | gnomAD-2.1.1 | 3.86E-05 | |
13938 | 63 | M/V | 145 | rs201725483 | 0.2807 | None | gnomAD-3.1.2 | 4.6E-05 | |
13938 | 63 | M/V | 145 | rs201725483 | 0.2807 | None | gnomAD-4.0.0 | 1.13639E-04 | |
13939 | 64 | P/S | 146 | None | 0.7031 | None | gnomAD-4.0.0 | 1.6204E-06 | |
13940 | 65 | E/D | 148 | None | 0.5944 | None | gnomAD-4.0.0 | 3.23387E-06 | |
13940 | 65 | E/Q | 148 | rs1172846357 | 0.5944 | None | gnomAD-2.1.1 | 3.19E-05 | |
13940 | 65 | E/Q | 148 | rs1172846357 | 0.5944 | None | gnomAD-3.1.2 | 1.31E-05 | |
13940 | 65 | E/Q | 148 | rs1172846357 | 0.5944 | None | gnomAD-4.0.0 | 5.61401E-06 | |
13942 | 67 | I/V | 151 | rs902514647 | 0.5191 | None | gnomAD-2.1.1 | 3.19E-05 | |
13944 | 69 | E/V | 153 | None | 0.4039 | None | gnomAD-4.0.0 | 1.61311E-06 | |
13946 | 71 | A/T | 155 | None | 0.1147 | None | gnomAD-4.0.0 | 6.88053E-07 | |
13949 | 74 | I/V | 158 | None | 0.1977 | None | gnomAD-4.0.0 | 6.87561E-07 | |
13953 | 78 | R/I | 163 | rs1268324463 | 0.2578 | None | gnomAD-2.1.1 | 4.21E-06 | |
13953 | 78 | R/I | 163 | rs1268324463 | 0.2578 | None | gnomAD-4.0.0 | 3.21587E-06 | |
13954 | 79 | Y/C | 164 | None | 0.2883 | None | gnomAD-4.0.0 | 3.21484E-06 | |
13954 | 79 | Y/H | 164 | None | 0.2883 | None | gnomAD-4.0.0 | 2.74832E-06 | |
13955 | 80 | P/H | 165 | rs776863726 | 0.4985 | None | gnomAD-3.1.2 | 6.58E-06 | |
13955 | 80 | P/H | 165 | rs776863726 | 0.4985 | None | gnomAD-4.0.0 | 2.0531E-05 | |
13955 | 80 | P/L | 165 | rs776863726 | 0.4985 | None | gnomAD-3.1.2 | 6.58E-06 | |
13955 | 80 | P/L | 165 | rs776863726 | 0.4985 | None | gnomAD-4.0.0 | 1.86646E-06 | |
13956 | 81 | A/T | 166 | rs1176642239 | 0.0896 | None | gnomAD-2.1.1 | 4.2E-06 | |
13956 | 81 | A/T | 166 | rs1176642239 | 0.0896 | None | gnomAD-4.0.0 | 1.60727E-06 | |
13956 | 81 | A/V | 166 | rs2060324765 | 0.0896 | None | gnomAD-3.1.2 | 6.58E-06 | |
13957 | 82 | K/N | 168 | None | 0.4529 | None | gnomAD-4.0.0 | 6.87104E-07 | |
13958 | 83 | L/V | 178 | None | 0.3113 | None | gnomAD-4.0.0 | 6.87166E-07 |