10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | Q | F | I | K | K | P | S | P | V | L | V | L | R | N | G | Q | S | T | T | F | E | C | Q | I | T | G | T | P | K | I | R | V | S | W | Y | L | D | G | N | E | I | T | A | I | Q | K | H | G | I | S | F | I | D | G | L | A | T | F | Q | I | S | G | A | R | V | E | N | S | G | T | Y | V | C | E | A | R | N | D | A | G | T | A | S | C | S | I | E | L | K | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
6105 | 1 | P/L | 1 | None | 0.1653 | None | gnomAD-4.0.0 | 1.59812E-06 | |
6109 | 5 | K/E | 5 | rs73973139 | 0.3687 | None | gnomAD-2.1.1 | 3.10033E-04 | |
6109 | 5 | K/E | 5 | rs73973139 | 0.3687 | None | gnomAD-3.1.2 | 8.41131E-04 | |
6109 | 5 | K/E | 5 | rs73973139 | 0.3687 | None | 1000 genomes | 9.98403E-04 | |
6109 | 5 | K/E | 5 | rs73973139 | 0.3687 | None | gnomAD-4.0.0 | 2.00315E-04 | |
6109 | 5 | K/N | 5 | rs556770980 | 0.3687 | None | gnomAD-2.1.1 | 4.06E-06 | |
6109 | 5 | K/N | 5 | rs556770980 | 0.3687 | None | gnomAD-3.1.2 | 6.57E-06 | |
6109 | 5 | K/N | 5 | rs556770980 | 0.3687 | None | 1000 genomes | 1.99681E-04 | |
6109 | 5 | K/N | 5 | rs556770980 | 0.3687 | None | gnomAD-4.0.0 | 3.72104E-06 | |
6110 | 6 | K/N | 7 | rs1350814757 | 0.4883 | None | gnomAD-4.0.0 | 1.5942E-06 | |
6111 | 7 | P/H | 8 | rs753241275 | 0.1348 | None | gnomAD-2.1.1 | 4.05E-06 | |
6111 | 7 | P/H | 8 | rs753241275 | 0.1348 | None | gnomAD-4.0.0 | 1.59376E-06 | |
6112 | 8 | S/G | 9 | None | 0.5276 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6114 | 10 | V/A | 13 | None | 0.1844 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6114 | 10 | V/D | 13 | None | 0.1844 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6114 | 10 | V/I | 13 | rs762371825 | 0.1844 | None | gnomAD-2.1.1 | 8.08E-06 | |
6114 | 10 | V/I | 13 | rs762371825 | 0.1844 | None | gnomAD-4.0.0 | 9.58383E-06 | |
6115 | 11 | L/F | 14 | rs771329302 | 0.7793 | None | gnomAD-4.0.0 | 2.73784E-06 | |
6116 | 12 | V/A | 15 | rs2154307658 | 0.2913 | None | gnomAD-4.0.0 | 1.36889E-06 | |
6116 | 12 | V/M | 15 | rs772718770 | 0.2913 | None | gnomAD-2.1.1 | 1.07E-05 | |
6116 | 12 | V/M | 15 | rs772718770 | 0.2913 | None | gnomAD-3.1.2 | 2.63E-05 | |
6116 | 12 | V/M | 15 | rs772718770 | 0.2913 | None | gnomAD-4.0.0 | 7.69164E-06 | |
6117 | 13 | L/M | 16 | rs2154307656 | 0.1146 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6117 | 13 | L/P | 16 | None | 0.1146 | None | gnomAD-4.0.0 | 3.18489E-06 | |
6118 | 14 | R/K | 18 | rs2154307652 | 0.6841 | None | gnomAD-4.0.0 | 1.59235E-06 | |
6118 | 14 | R/S | 18 | None | 0.6841 | None | gnomAD-4.0.0 | 3.18468E-06 | |
6119 | 15 | N/S | 23 | None | 0.7752 | None | gnomAD-4.0.0 | 4.77681E-06 | |
6120 | 16 | G/A | 24 | rs764816850 | 0.3586 | None | gnomAD-2.1.1 | 2.01E-05 | |
6120 | 16 | G/A | 24 | rs764816850 | 0.3586 | None | gnomAD-3.1.2 | 6.57E-06 | |
6120 | 16 | G/A | 24 | rs764816850 | 0.3586 | None | gnomAD-4.0.0 | 1.53814E-05 | |
6122 | 18 | S/P | 26 | rs2080087332 | 0.3628 | None | gnomAD-4.0.0 | 1.59206E-06 | |
6124 | 20 | T/A | 29 | None | 0.2744 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6124 | 20 | T/I | 29 | rs1280788914 | 0.2744 | None | gnomAD-2.1.1 | 4.03E-06 | |
6124 | 20 | T/I | 29 | rs1280788914 | 0.2744 | None | gnomAD-4.0.0 | 1.3687E-06 | |
6124 | 20 | T/K | 29 | rs1280788914 | 0.2744 | None | gnomAD-2.1.1 | 4.03E-06 | |
6124 | 20 | T/K | 29 | rs1280788914 | 0.2744 | None | gnomAD-4.0.0 | 6.84348E-07 | |
6125 | 21 | F/L | 30 | None | 0.0910 | None | gnomAD-4.0.0 | 6.84338E-07 | |
6125 | 21 | F/S | 30 | rs375003845 | 0.0910 | None | gnomAD-2.1.1 | 4.03E-06 | |
6125 | 21 | F/S | 30 | rs375003845 | 0.0910 | None | gnomAD-3.1.2 | 1.97E-05 | |
6125 | 21 | F/S | 30 | rs375003845 | 0.0910 | None | gnomAD-4.0.0 | 2.29329E-05 | |
6126 | 22 | E/A | 31 | rs1328808708 | 0.3620 | None | gnomAD-2.1.1 | 3.22E-05 | |
6126 | 22 | E/A | 31 | rs1328808708 | 0.3620 | None | gnomAD-4.0.0 | 7.52765E-06 | |
6126 | 22 | E/G | 31 | rs1328808708 | 0.3620 | None | gnomAD-3.1.2 | 6.57E-06 | |
6126 | 22 | E/G | 31 | rs1328808708 | 0.3620 | None | gnomAD-4.0.0 | 5.57816E-06 | |
6126 | 22 | E/Q | 31 | rs1332146833 | 0.3620 | None | gnomAD-2.1.1 | 4.03E-06 | |
6126 | 22 | E/Q | 31 | rs1332146833 | 0.3620 | None | gnomAD-4.0.0 | 3.18387E-06 | |
6127 | 23 | C/F | 33 | None | 0.0611 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6127 | 23 | C/G | 33 | rs370812788 | 0.0611 | None | gnomAD-2.1.1 | 4.68121E-04 | |
6127 | 23 | C/G | 33 | rs370812788 | 0.0611 | None | gnomAD-3.1.2 | 1.31422E-04 | |
6127 | 23 | C/G | 33 | rs370812788 | 0.0611 | None | 1000 genomes | 3.99361E-04 | |
6127 | 23 | C/G | 33 | rs370812788 | 0.0611 | None | gnomAD-4.0.0 | 1.21467E-04 | |
6128 | 24 | Q/R | 34 | None | 0.1804 | None | gnomAD-4.0.0 | 1.59179E-06 | |
6129 | 25 | I/V | 35 | rs2080081483 | 0.0835 | None | gnomAD-3.1.2 | 6.57E-06 | |
6129 | 25 | I/V | 35 | rs2080081483 | 0.0835 | None | gnomAD-4.0.0 | 2.02988E-06 | |
6130 | 26 | T/R | 38 | rs1379804888 | 0.3526 | None | gnomAD-3.1.2 | 1.31E-05 | |
6130 | 26 | T/R | 38 | rs1379804888 | 0.3526 | None | gnomAD-4.0.0 | 8.96994E-06 | |
6130 | 26 | T/S | 38 | rs794727816 | 0.3526 | None | gnomAD-4.0.0 | 3.60097E-06 | |
6132 | 28 | T/A | 41 | None | 0.8949 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6135 | 31 | I/V | 44 | rs935669018 | 0.1505 | None | gnomAD-3.1.2 | 1.31E-05 | |
6135 | 31 | I/V | 44 | rs935669018 | 0.1505 | None | gnomAD-4.0.0 | 3.84409E-06 | |
6136 | 32 | R/Q | 45 | rs117551279 | 0.8040 | None | gnomAD-2.1.1 | 4.53549E-04 | |
6136 | 32 | R/Q | 45 | rs117551279 | 0.8040 | None | gnomAD-3.1.2 | 2.03813E-04 | |
6136 | 32 | R/Q | 45 | rs117551279 | 0.8040 | None | 1000 genomes | 1.19808E-03 | |
6136 | 32 | R/Q | 45 | rs117551279 | 0.8040 | None | gnomAD-4.0.0 | 1.26422E-04 | |
6137 | 33 | V/A | 46 | None | 0.2756 | None | gnomAD-4.0.0 | 6.84258E-07 | |
6137 | 33 | V/G | 46 | None | 0.2756 | None | gnomAD-4.0.0 | 6.84258E-07 | |
6137 | 33 | V/M | 46 | None | 0.2756 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6138 | 34 | S/F | 47 | None | 0.3639 | None | gnomAD-4.0.0 | 6.84262E-07 | |
6138 | 34 | S/Y | 47 | rs727504477 | 0.3639 | None | gnomAD-2.1.1 | 4.02E-06 | |
6138 | 34 | S/Y | 47 | rs727504477 | 0.3639 | None | gnomAD-4.0.0 | 7.52688E-06 | |
6140 | 36 | Y/C | 49 | rs1181020679 | 0.2651 | None | gnomAD-2.1.1 | 4.02E-06 | |
6140 | 36 | Y/C | 49 | rs1181020679 | 0.2651 | None | gnomAD-4.0.0 | 1.59153E-06 | |
6140 | 36 | Y/H | 49 | None | 0.2651 | None | gnomAD-4.0.0 | 1.59151E-06 | |
6142 | 38 | D/E | 51 | None | 0.5665 | None | gnomAD-4.0.0 | 3.42126E-06 | |
6142 | 38 | D/G | 51 | None | 0.5665 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6143 | 39 | G/R | 52 | rs757453585 | 0.4559 | None | gnomAD-2.1.1 | 1.61E-05 | |
6143 | 39 | G/R | 52 | rs757453585 | 0.4559 | None | gnomAD-3.1.2 | 1.97E-05 | |
6143 | 39 | G/R | 52 | rs757453585 | 0.4559 | None | gnomAD-4.0.0 | 7.43716E-06 | |
6146 | 42 | I/T | 58 | rs1578142340 | 0.1968 | None | gnomAD-4.0.0 | 1.36851E-06 | |
6146 | 42 | I/V | 58 | rs2080073128 | 0.1968 | None | gnomAD-3.1.2 | 6.57E-06 | |
6146 | 42 | I/V | 58 | rs2080073128 | 0.1968 | None | gnomAD-4.0.0 | 6.57065E-06 | |
6149 | 45 | I/V | 73 | rs368897297 | 1.1402 | None | gnomAD-2.1.1 | 1.43E-05 | |
6149 | 45 | I/V | 73 | rs368897297 | 1.1402 | None | gnomAD-3.1.2 | 1.97E-05 | |
6149 | 45 | I/V | 73 | rs368897297 | 1.1402 | None | gnomAD-4.0.0 | 3.03638E-05 | |
6152 | 48 | H/L | 121 | rs2080071193 | 1.2305 | None | gnomAD-4.0.0 | 3.18298E-06 | |
6152 | 48 | H/R | 121 | None | 1.2305 | None | gnomAD-4.0.0 | 1.59149E-06 | |
6153 | 49 | G/D | 122 | rs374460910 | 0.2050 | None | gnomAD-2.1.1 | 8.04E-06 | |
6153 | 49 | G/D | 122 | rs374460910 | 0.2050 | None | gnomAD-3.1.2 | 6.57E-06 | |
6153 | 49 | G/D | 122 | rs374460910 | 0.2050 | None | gnomAD-4.0.0 | 1.11553E-05 | |
6155 | 51 | S/A | 125 | rs768149481 | 0.3231 | None | gnomAD-2.1.1 | 1.07E-05 | |
6155 | 51 | S/A | 125 | rs768149481 | 0.3231 | None | gnomAD-3.1.2 | 6.57E-06 | |
6155 | 51 | S/A | 125 | rs768149481 | 0.3231 | None | gnomAD-4.0.0 | 1.85913E-06 | |
6157 | 53 | I/T | 130 | rs371882162 | 0.7393 | None | gnomAD-2.1.1 | 6.78E-05 | |
6157 | 53 | I/T | 130 | rs371882162 | 0.7393 | None | gnomAD-3.1.2 | 7.89E-05 | |
6157 | 53 | I/T | 130 | rs371882162 | 0.7393 | None | gnomAD-4.0.0 | 7.87055E-05 | |
6157 | 53 | I/V | 130 | None | 0.7393 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6158 | 54 | D/G | 131 | None | 0.9498 | None | gnomAD-4.0.0 | 3.18276E-06 | |
6158 | 54 | D/N | 131 | rs2080068286 | 0.9498 | None | gnomAD-4.0.0 | 5.47383E-06 | |
6159 | 55 | G/A | 134 | rs1214856110 | 0.1584 | None | gnomAD-2.1.1 | 3.19E-05 | |
6159 | 55 | G/A | 134 | rs1214856110 | 0.1584 | None | gnomAD-3.1.2 | 6.57E-06 | |
6159 | 55 | G/A | 134 | rs1214856110 | 0.1584 | None | gnomAD-4.0.0 | 6.57367E-06 | |
6159 | 55 | G/D | 134 | None | 0.1584 | None | gnomAD-4.0.0 | 1.43226E-05 | |
6161 | 57 | A/P | 136 | None | 0.0739 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6162 | 58 | T/I | 137 | rs367685188 | 0.1909 | None | gnomAD-2.1.1 | 1.07E-05 | |
6162 | 58 | T/I | 137 | rs367685188 | 0.1909 | None | gnomAD-3.1.2 | 3.29E-05 | |
6162 | 58 | T/I | 137 | rs367685188 | 0.1909 | None | gnomAD-4.0.0 | 6.0897E-06 | |
6163 | 59 | F/S | 138 | rs1458021092 | 0.1117 | None | gnomAD-4.0.0 | 1.59137E-06 | |
6165 | 61 | I/F | 140 | None | 0.1382 | None | gnomAD-4.0.0 | 1.59137E-06 | |
6165 | 61 | I/T | 140 | None | 0.1382 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6165 | 61 | I/V | 140 | rs886055296 | 0.1382 | None | gnomAD-4.0.0 | 1.59137E-06 | |
6166 | 62 | S/A | 141 | None | 0.6339 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6167 | 63 | G/C | 143 | None | 0.3493 | None | gnomAD-4.0.0 | 1.59137E-06 | |
6168 | 64 | A/T | 144 | rs764768881 | 0.1170 | None | gnomAD-2.1.1 | 1.79E-05 | |
6168 | 64 | A/T | 144 | rs764768881 | 0.1170 | None | gnomAD-3.1.2 | 6.57E-06 | |
6168 | 64 | A/T | 144 | rs764768881 | 0.1170 | None | gnomAD-4.0.0 | 2.16901E-05 | |
6169 | 65 | R/G | 145 | None | 0.6095 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6169 | 65 | R/K | 145 | None | 0.6095 | None | gnomAD-4.0.0 | 1.59133E-06 | |
6169 | 65 | R/T | 145 | None | 0.6095 | None | gnomAD-4.0.0 | 1.59133E-06 | |
6173 | 69 | S/G | 151 | None | 0.2844 | None | gnomAD-4.0.0 | 1.36846E-06 | |
6173 | 69 | S/N | 151 | rs1243375835 | 0.2844 | None | gnomAD-2.1.1 | 3.18E-05 | |
6173 | 69 | S/R | 151 | rs1452419316 | 0.2844 | None | gnomAD-2.1.1 | 4.02E-06 | |
6173 | 69 | S/R | 151 | rs1452419316 | 0.2844 | None | gnomAD-4.0.0 | 3.18277E-06 | |
6174 | 70 | G/V | 152 | None | 0.2055 | None | gnomAD-4.0.0 | 4.78963E-06 | |
6176 | 72 | Y/H | 154 | None | 0.1143 | None | gnomAD-4.0.0 | 1.59136E-06 | |
6177 | 73 | V/A | 155 | rs2080061909 | 0.2191 | None | gnomAD-4.0.0 | 1.59135E-06 | |
6177 | 73 | V/L | 155 | None | 0.2191 | None | gnomAD-4.0.0 | 6.00161E-06 | |
6177 | 73 | V/M | 155 | rs1553921514 | 0.2191 | None | gnomAD-4.0.0 | 4.80129E-06 | |
6178 | 74 | C/W | 156 | rs1560777515 | 0.0593 | None | gnomAD-2.1.1 | 4.02E-06 | |
6178 | 74 | C/W | 156 | rs1560777515 | 0.0593 | None | gnomAD-4.0.0 | 1.59136E-06 | |
6178 | 74 | C/Y | 156 | rs760469804 | 0.0593 | None | gnomAD-2.1.1 | 4.02E-06 | |
6179 | 75 | E/K | 157 | None | 0.4902 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6179 | 75 | E/V | 157 | None | 0.4902 | None | gnomAD-4.0.0 | 1.5914E-06 | |
6180 | 76 | A/P | 158 | None | 0.0856 | None | gnomAD-4.0.0 | 1.36847E-06 | |
6180 | 76 | A/S | 158 | None | 0.0856 | None | gnomAD-4.0.0 | 4.10542E-06 | |
6181 | 77 | R/L | 159 | rs201951252 | 0.6567 | None | gnomAD-3.1.2 | 6.57E-06 | |
6181 | 77 | R/L | 159 | rs201951252 | 0.6567 | None | gnomAD-4.0.0 | 1.23944E-06 | |
6181 | 77 | R/Q | 159 | rs201951252 | 0.6567 | None | gnomAD-2.1.1 | 2.14E-05 | |
6181 | 77 | R/Q | 159 | rs201951252 | 0.6567 | None | gnomAD-3.1.2 | 5.92E-05 | |
6181 | 77 | R/Q | 159 | rs201951252 | 0.6567 | None | gnomAD-4.0.0 | 2.78874E-05 | |
6183 | 79 | D/G | 162 | None | 1.0015 | None | gnomAD-4.0.0 | 1.20032E-06 | |
6183 | 79 | D/N | 162 | None | 1.0015 | None | gnomAD-4.0.0 | 1.59139E-06 | |
6184 | 80 | A/S | 163 | None | 0.6450 | None | gnomAD-4.0.0 | 1.36848E-06 | |
6184 | 80 | A/T | 163 | rs72648947 | 0.6450 | None | gnomAD-2.1.1 | 3.82553E-04 | |
6184 | 80 | A/T | 163 | rs72648947 | 0.6450 | None | gnomAD-3.1.2 | 4.53607E-04 | |
6184 | 80 | A/T | 163 | rs72648947 | 0.6450 | None | gnomAD-4.0.0 | 3.69336E-04 | |
6185 | 81 | G/S | 164 | rs1460731482 | 0.2575 | None | gnomAD-2.1.1 | 4.03E-06 | |
6185 | 81 | G/S | 164 | rs1460731482 | 0.2575 | None | gnomAD-4.0.0 | 3.18279E-06 | |
6186 | 82 | T/A | 165 | None | 0.6298 | None | gnomAD-4.0.0 | 1.59141E-06 | |
6186 | 82 | T/K | 165 | None | 0.6298 | None | gnomAD-3.1.2 | 6.57E-06 | |
6186 | 82 | T/K | 165 | None | 0.6298 | None | gnomAD-4.0.0 | 6.5735E-06 | |
6186 | 82 | T/M | 165 | rs200359082 | 0.6298 | None | gnomAD-2.1.1 | 1.14439E-04 | |
6186 | 82 | T/M | 165 | rs200359082 | 0.6298 | None | gnomAD-3.1.2 | 9.2E-05 | |
6186 | 82 | T/M | 165 | rs200359082 | 0.6298 | None | gnomAD-4.0.0 | 8.98617E-05 | |
6186 | 82 | T/R | 165 | rs200359082 | 0.6298 | None | gnomAD-2.1.1 | 4.03E-06 | |
6186 | 82 | T/R | 165 | rs200359082 | 0.6298 | None | gnomAD-4.0.0 | 6.84245E-07 | |
6187 | 83 | A/V | 166 | rs758380777 | 0.1879 | None | gnomAD-2.1.1 | 2.82E-05 | |
6187 | 83 | A/V | 166 | rs758380777 | 0.1879 | None | gnomAD-3.1.2 | 1.97E-05 | |
6187 | 83 | A/V | 166 | rs758380777 | 0.1879 | None | gnomAD-4.0.0 | 7.43705E-06 | |
6188 | 84 | S/G | 168 | rs781653231 | 0.4083 | None | gnomAD-2.1.1 | 1.43E-05 | |
6188 | 84 | S/G | 168 | rs781653231 | 0.4083 | None | gnomAD-3.1.2 | 1.97E-05 | |
6188 | 84 | S/G | 168 | rs781653231 | 0.4083 | None | gnomAD-4.0.0 | 6.40645E-06 | |
6190 | 86 | S/R | 171 | rs755474413 | 0.5189 | None | gnomAD-2.1.1 | 4.03E-06 | |
6190 | 86 | S/R | 171 | rs755474413 | 0.5189 | None | gnomAD-3.1.2 | 6.57E-06 | |
6190 | 86 | S/R | 171 | rs755474413 | 0.5189 | None | gnomAD-4.0.0 | 3.09869E-06 | |
6191 | 87 | I/T | 172 | rs752079323 | 0.0876 | None | gnomAD-2.1.1 | 3.63E-05 | |
6191 | 87 | I/T | 172 | rs752079323 | 0.0876 | None | gnomAD-4.0.0 | 2.70549E-05 | |
6191 | 87 | I/V | 172 | None | 0.0876 | None | gnomAD-4.0.0 | 1.59146E-06 | |
6192 | 88 | E/K | 173 | rs1457411847 | 0.4691 | None | gnomAD-2.1.1 | 3.18E-05 | |
6192 | 88 | E/K | 173 | rs1457411847 | 0.4691 | None | gnomAD-3.1.2 | 1.31E-05 | |
6192 | 88 | E/K | 173 | rs1457411847 | 0.4691 | None | gnomAD-4.0.0 | 1.31441E-05 | |
6193 | 89 | L/F | 174 | rs778348811 | 0.1010 | None | gnomAD-2.1.1 | 4.03E-06 |