10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
L | D | F | A | V | P | L | K | D | V | T | V | P | E | R | R | Q | A | R | F | E | C | V | L | T | R | E | A | N | V | I | W | S | K | G | P | D | I | I | K | S | S | D | K | F | D | I | I | A | D | G | K | K | H | I | L | V | I | N | D | S | Q | F | D | D | E | G | V | Y | T | A | E | V | E | G | K | K | T | S | A | R | L | F | V | T |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
14054 | 1 | L/F | 1 | rs1221996833 | 0.4526 | None | gnomAD-3.1.2 | 6.58E-06 | |
14054 | 1 | L/F | 1 | rs1221996833 | 0.4526 | None | gnomAD-4.0.0 | 6.5786E-06 | |
14054 | 1 | L/P | 1 | None | 0.4526 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14054 | 1 | L/R | 1 | None | 0.4526 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14055 | 2 | D/A | 2 | None | 0.4437 | None | gnomAD-4.0.0 | 1.593E-06 | |
14055 | 2 | D/E | 2 | None | 0.4437 | None | gnomAD-4.0.0 | 6.84496E-07 | |
14056 | 3 | F/L | 3 | rs1474422218 | 0.1599 | None | gnomAD-2.1.1 | 4.03E-06 | |
14056 | 3 | F/L | 3 | rs1474422218 | 0.1599 | None | gnomAD-3.1.2 | 6.58E-06 | |
14056 | 3 | F/L | 3 | rs1474422218 | 0.1599 | None | gnomAD-4.0.0 | 2.56439E-06 | |
14057 | 4 | A/T | 4 | rs376192503 | 0.3312 | None | gnomAD-2.1.1 | 4.03E-06 | |
14057 | 4 | A/T | 4 | rs376192503 | 0.3312 | None | gnomAD-4.0.0 | 8.21326E-06 | |
14057 | 4 | A/V | 4 | rs900184988 | 0.3312 | None | gnomAD-3.1.2 | 6.58E-06 | |
14057 | 4 | A/V | 4 | rs900184988 | 0.3312 | None | gnomAD-4.0.0 | 5.07522E-06 | |
14058 | 5 | V/M | 5 | rs774014126 | 0.3743 | None | gnomAD-2.1.1 | 4.03E-06 | |
14058 | 5 | V/M | 5 | rs774014126 | 0.3743 | None | gnomAD-4.0.0 | 1.5925E-06 | |
14059 | 6 | P/H | 7 | rs1173536699 | 0.4184 | None | gnomAD-2.1.1 | 3.19E-05 | |
14059 | 6 | P/H | 7 | rs1173536699 | 0.4184 | None | gnomAD-3.1.2 | 6.58E-06 | |
14059 | 6 | P/H | 7 | rs1173536699 | 0.4184 | None | gnomAD-4.0.0 | 6.58241E-06 | |
14059 | 6 | P/L | 7 | rs1173536699 | 0.4184 | None | gnomAD-2.1.1 | 3.19E-05 | |
14059 | 6 | P/L | 7 | rs1173536699 | 0.4184 | None | gnomAD-3.1.2 | 6.58E-06 | |
14059 | 6 | P/L | 7 | rs1173536699 | 0.4184 | None | gnomAD-4.0.0 | 6.58241E-06 | |
14059 | 6 | P/S | 7 | None | 0.4184 | None | gnomAD-4.0.0 | 2.05327E-06 | |
14059 | 6 | P/T | 7 | None | 0.4184 | None | gnomAD-4.0.0 | 2.05327E-06 | |
14060 | 7 | L/P | 8 | None | 0.1266 | None | gnomAD-4.0.0 | 1.5923E-06 | |
14060 | 7 | L/V | 8 | rs762418323 | 0.1266 | None | gnomAD-2.1.1 | 1.21E-05 | |
14060 | 7 | L/V | 8 | rs762418323 | 0.1266 | None | gnomAD-4.0.0 | 6.36914E-06 | |
14061 | 8 | K/M | 9 | None | 0.8036 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14062 | 9 | D/A | 11 | rs1282444173 | 0.4484 | None | gnomAD-2.1.1 | 4.03E-06 | |
14062 | 9 | D/A | 11 | rs1282444173 | 0.4484 | None | gnomAD-4.0.0 | 6.84392E-07 | |
14062 | 9 | D/E | 11 | None | 0.4484 | None | gnomAD-4.0.0 | 1.59227E-06 | |
14062 | 9 | D/G | 11 | None | 0.4484 | None | gnomAD-4.0.0 | 1.36878E-06 | |
14063 | 10 | V/A | 13 | rs772758022 | 0.1441 | None | gnomAD-2.1.1 | 4.03E-06 | |
14063 | 10 | V/A | 13 | rs772758022 | 0.1441 | None | gnomAD-4.0.0 | 3.18445E-06 | |
14064 | 11 | T/A | 14 | rs769719800 | 0.4436 | None | gnomAD-2.1.1 | 8.05E-06 | |
14064 | 11 | T/A | 14 | rs769719800 | 0.4436 | None | gnomAD-3.1.2 | 1.32E-05 | |
14064 | 11 | T/A | 14 | rs769719800 | 0.4436 | None | gnomAD-4.0.0 | 7.43842E-06 | |
14066 | 13 | P/L | 18 | None | 0.4215 | None | gnomAD-4.0.0 | 1.59226E-06 | |
14069 | 16 | R/Q | 25 | rs544852574 | 0.6540 | None | gnomAD-2.1.1 | 1.61E-05 | |
14069 | 16 | R/Q | 25 | rs544852574 | 0.6540 | None | gnomAD-3.1.2 | 1.32E-05 | |
14069 | 16 | R/Q | 25 | rs544852574 | 0.6540 | None | gnomAD-4.0.0 | 8.67833E-06 | |
14070 | 17 | Q/K | 26 | None | 0.5589 | None | gnomAD-4.0.0 | 1.59226E-06 | |
14071 | 18 | A/P | 28 | None | 0.1209 | None | gnomAD-4.0.0 | 2.05319E-06 | |
14071 | 18 | A/T | 28 | rs2154227681 | 0.1209 | None | gnomAD-4.0.0 | 6.84396E-07 | |
14072 | 19 | R/L | 29 | rs747161377 | 0.3024 | None | gnomAD-2.1.1 | 4.03E-06 | |
14072 | 19 | R/L | 29 | rs747161377 | 0.3024 | None | gnomAD-4.0.0 | 1.02659E-05 | |
14072 | 19 | R/P | 29 | rs747161377 | 0.3024 | None | gnomAD-2.1.1 | 4.03E-06 | |
14072 | 19 | R/P | 29 | rs747161377 | 0.3024 | None | gnomAD-4.0.0 | 6.84396E-07 | |
14072 | 19 | R/Q | 29 | None | 0.3024 | None | gnomAD-2.1.1 | 2.01E-05 | |
14072 | 19 | R/Q | 29 | None | 0.3024 | None | gnomAD-4.0.0 | 1.30035E-05 | |
14073 | 20 | F/L | 30 | None | 0.0867 | None | gnomAD-4.0.0 | 1.36878E-06 | |
14074 | 21 | E/K | 31 | rs1418024772 | 0.2710 | None | gnomAD-2.1.1 | 6.37E-05 | |
14074 | 21 | E/K | 31 | rs1418024772 | 0.2710 | None | gnomAD-3.1.2 | 4.6E-05 | |
14074 | 21 | E/K | 31 | rs1418024772 | 0.2710 | None | gnomAD-4.0.0 | 2.29339E-05 | |
14074 | 21 | E/Q | 31 | rs1418024772 | 0.2710 | None | gnomAD-4.0.0 | 6.84384E-07 | |
14075 | 22 | C/F | 33 | None | 0.0844 | None | gnomAD-4.0.0 | 1.59215E-06 | |
14077 | 24 | L/F | 35 | rs758746920 | 0.1066 | None | gnomAD-2.1.1 | 4.03E-06 | |
14077 | 24 | L/F | 35 | rs758746920 | 0.1066 | None | gnomAD-4.0.0 | 1.36875E-06 | |
14077 | 24 | L/P | 35 | rs1325439536 | 0.1066 | None | gnomAD-2.1.1 | 4.03E-06 | |
14077 | 24 | L/P | 35 | rs1325439536 | 0.1066 | None | gnomAD-4.0.0 | 1.59212E-06 | |
14077 | 24 | L/V | 35 | None | 0.1066 | None | gnomAD-4.0.0 | 6.84377E-07 | |
14079 | 26 | R/G | 40 | rs745926057 | 0.6724 | None | gnomAD-2.1.1 | 4.03E-06 | |
14079 | 26 | R/G | 40 | rs745926057 | 0.6724 | None | gnomAD-4.0.0 | 2.05317E-06 | |
14079 | 26 | R/L | 40 | rs746480872 | 0.6724 | None | gnomAD-4.0.0 | 1.36878E-06 | |
14079 | 26 | R/Q | 40 | None | 0.6724 | None | gnomAD-2.1.1 | 3.22E-05 | |
14079 | 26 | R/Q | 40 | None | 0.6724 | None | gnomAD-4.0.0 | 6.84389E-05 | |
14080 | 27 | E/K | 43 | rs1002712823 | 0.5617 | None | gnomAD-4.0.0 | 1.5922E-06 | |
14081 | 28 | A/T | 44 | rs1174918107 | 0.2762 | None | gnomAD-3.1.2 | 6.58E-06 | |
14081 | 28 | A/T | 44 | rs1174918107 | 0.2762 | None | gnomAD-4.0.0 | 2.56387E-06 | |
14082 | 29 | N/K | 45 | rs907132563 | 0.9924 | None | gnomAD-3.1.2 | 1.97E-05 | |
14082 | 29 | N/K | 45 | rs907132563 | 0.9924 | None | gnomAD-4.0.0 | 4.33938E-06 | |
14082 | 29 | N/S | 45 | None | 0.9924 | None | gnomAD-4.0.0 | 3.60097E-06 | |
14084 | 31 | I/M | 47 | rs1163597313 | 0.5974 | None | gnomAD-2.1.1 | 8.06E-06 | |
14084 | 31 | I/M | 47 | rs1163597313 | 0.5974 | None | gnomAD-3.1.2 | 6.57E-06 | |
14084 | 31 | I/M | 47 | rs1163597313 | 0.5974 | None | gnomAD-4.0.0 | 4.33899E-06 | |
14084 | 31 | I/T | 47 | rs757636133 | 0.5974 | None | gnomAD-4.0.0 | 1.59216E-06 | |
14084 | 31 | I/V | 47 | None | 0.5974 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14086 | 33 | S/T | 49 | rs777451130 | 0.1497 | None | gnomAD-2.1.1 | 8.06E-06 | |
14086 | 33 | S/T | 49 | rs777451130 | 0.1497 | None | gnomAD-4.0.0 | 2.39534E-05 | |
14088 | 35 | G/A | 51 | None | 0.4252 | None | gnomAD-4.0.0 | 6.8438E-07 | |
14088 | 35 | G/E | 51 | rs2060182595 | 0.4252 | None | gnomAD-4.0.0 | 6.8438E-07 | |
14089 | 36 | P/H | 52 | rs201340186 | 0.7337 | None | gnomAD-2.1.1 | 2.86E-05 | |
14089 | 36 | P/H | 52 | rs201340186 | 0.7337 | None | gnomAD-3.1.2 | 1.32E-05 | |
14089 | 36 | P/H | 52 | rs201340186 | 0.7337 | None | gnomAD-4.0.0 | 8.97489E-06 | |
14091 | 38 | I/T | 56 | None | 0.6907 | None | gnomAD-4.0.0 | 1.5922E-06 | |
14091 | 38 | I/V | 56 | None | 0.6907 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14093 | 40 | K/N | 59 | rs2060181153 | 0.8102 | None | gnomAD-3.1.2 | 6.58E-06 | |
14093 | 40 | K/N | 59 | rs2060181153 | 0.8102 | None | gnomAD-4.0.0 | 6.84398E-07 | |
14093 | 40 | K/R | 59 | rs1553743733 | 0.8102 | None | gnomAD-4.0.0 | 1.5922E-06 | |
14094 | 41 | S/P | 70 | None | 0.6489 | None | gnomAD-4.0.0 | 1.3688E-06 | |
14095 | 42 | S/F | 73 | rs762662244 | 0.2682 | None | gnomAD-2.1.1 | 4.03E-06 | |
14095 | 42 | S/F | 73 | rs762662244 | 0.2682 | None | gnomAD-4.0.0 | 1.59237E-06 | |
14098 | 45 | F/C | 121 | rs761607459 | 0.1738 | None | gnomAD-2.1.1 | 4.03E-06 | |
14098 | 45 | F/C | 121 | rs761607459 | 0.1738 | None | gnomAD-4.0.0 | 3.18461E-06 | |
14098 | 45 | F/L | 121 | rs764819276 | 0.1738 | None | gnomAD-2.1.1 | 4.03E-06 | |
14098 | 45 | F/L | 121 | rs764819276 | 0.1738 | None | gnomAD-3.1.2 | 1.97E-05 | |
14098 | 45 | F/L | 121 | rs764819276 | 0.1738 | None | gnomAD-4.0.0 | 4.33918E-06 | |
14098 | 45 | F/S | 121 | None | 0.1738 | None | gnomAD-4.0.0 | 4.77692E-06 | |
14099 | 46 | D/G | 122 | rs1295172213 | 0.4480 | None | gnomAD-3.1.2 | 6.58E-06 | |
14099 | 46 | D/G | 122 | rs1295172213 | 0.4480 | None | gnomAD-4.0.0 | 3.7194E-06 | |
14099 | 46 | D/H | 122 | None | 0.4480 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14099 | 46 | D/N | 122 | rs1041549928 | 0.4480 | None | gnomAD-3.1.2 | 1.32E-05 | |
14099 | 46 | D/N | 122 | rs1041549928 | 0.4480 | None | gnomAD-4.0.0 | 4.06037E-06 | |
14100 | 47 | I/V | 123 | rs1228652507 | 0.3164 | None | gnomAD-2.1.1 | 4.03E-06 | |
14100 | 47 | I/V | 123 | rs1228652507 | 0.3164 | None | gnomAD-4.0.0 | 1.59232E-06 | |
14101 | 48 | I/T | 125 | rs776663967 | 0.4153 | None | gnomAD-2.1.1 | 8.06E-06 | |
14101 | 48 | I/T | 125 | rs776663967 | 0.4153 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14102 | 49 | A/T | 127 | rs72650080 | 0.5090 | None | gnomAD-2.1.1 | 1.43E-05 | |
14102 | 49 | A/T | 127 | rs72650080 | 0.5090 | None | gnomAD-3.1.2 | 1.97E-05 | |
14102 | 49 | A/T | 127 | rs72650080 | 0.5090 | None | gnomAD-4.0.0 | 1.73582E-05 | |
14103 | 50 | D/N | 130 | None | 0.7921 | None | gnomAD-4.0.0 | 1.59233E-06 | |
14103 | 50 | D/V | 130 | rs775487599 | 0.7921 | None | gnomAD-2.1.1 | 8.06E-06 | |
14103 | 50 | D/V | 130 | rs775487599 | 0.7921 | None | gnomAD-4.0.0 | 3.18463E-06 | |
14105 | 52 | K/N | 134 | None | 0.3066 | None | gnomAD-4.0.0 | 6.84438E-07 | |
14106 | 53 | K/R | 135 | None | 0.2703 | None | gnomAD-4.0.0 | 1.59243E-06 | |
14108 | 55 | I/F | 137 | rs772414514 | 0.1121 | None | gnomAD-2.1.1 | 1.21E-05 | |
14108 | 55 | I/F | 137 | rs772414514 | 0.1121 | None | gnomAD-4.0.0 | 6.15989E-06 | |
14108 | 55 | I/N | 137 | None | 0.1121 | None | gnomAD-4.0.0 | 6.84434E-07 | |
14110 | 57 | V/A | 139 | rs34706299 | 0.1594 | None | gnomAD-2.1.1 | 3.40026E-04 | |
14110 | 57 | V/A | 139 | rs34706299 | 0.1594 | None | gnomAD-3.1.2 | 3.02476E-04 | |
14110 | 57 | V/A | 139 | rs34706299 | 0.1594 | None | 1000 genomes | 3.99361E-04 | |
14110 | 57 | V/A | 139 | rs34706299 | 0.1594 | None | gnomAD-4.0.0 | 2.67782E-04 | |
14110 | 57 | V/I | 139 | rs1230881799 | 0.1594 | None | gnomAD-4.0.0 | 2.73773E-06 | |
14112 | 59 | N/I | 141 | rs749717066 | 0.2472 | None | gnomAD-2.1.1 | 4.03E-06 | |
14112 | 59 | N/S | 141 | rs749717066 | 0.2472 | None | gnomAD-2.1.1 | 4.03E-06 | |
14112 | 59 | N/S | 141 | rs749717066 | 0.2472 | None | gnomAD-4.0.0 | 6.00162E-06 | |
14113 | 60 | D/E | 143 | None | 0.4381 | None | gnomAD-4.0.0 | 1.59261E-06 | |
14115 | 62 | Q/E | 145 | rs2060169705 | 0.4436 | None | gnomAD-4.0.0 | 1.5927E-06 | |
14116 | 63 | F/L | 146 | None | 0.4208 | None | gnomAD-4.0.0 | 1.59277E-06 | |
14117 | 64 | D/V | 148 | rs2060168886 | 0.6127 | None | gnomAD-4.0.0 | 1.23209E-05 | |
14118 | 65 | D/E | 149 | None | 0.1533 | None | gnomAD-4.0.0 | 1.36899E-06 | |
14118 | 65 | D/V | 149 | None | 0.1533 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14119 | 66 | E/D | 151 | None | 0.2598 | None | gnomAD-4.0.0 | 1.59286E-06 | |
14120 | 67 | G/R | 152 | None | 0.1828 | None | gnomAD-4.0.0 | 6.8451E-07 | |
14121 | 68 | V/A | 153 | None | 0.3365 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14121 | 68 | V/F | 153 | None | 0.3365 | None | gnomAD-4.0.0 | 6.3716E-06 | |
14121 | 68 | V/G | 153 | None | 0.3365 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14122 | 69 | Y/C | 154 | rs756627487 | 0.0850 | None | gnomAD-2.1.1 | 4.04E-06 | |
14122 | 69 | Y/C | 154 | rs756627487 | 0.0850 | None | gnomAD-4.0.0 | 6.16064E-06 | |
14123 | 70 | T/S | 155 | None | 0.1790 | None | gnomAD-4.0.0 | 1.5931E-06 | |
14124 | 71 | A/S | 156 | rs753046446 | 0.0641 | None | gnomAD-2.1.1 | 4.05E-06 | |
14124 | 71 | A/S | 156 | rs753046446 | 0.0641 | None | gnomAD-4.0.0 | 3.19122E-06 | |
14126 | 73 | V/E | 158 | rs1489018462 | 0.1301 | None | gnomAD-3.1.2 | 1.32E-05 | |
14126 | 73 | V/E | 158 | rs1489018462 | 0.1301 | None | gnomAD-4.0.0 | 1.2414E-05 | |
14126 | 73 | V/M | 158 | None | 0.1301 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14127 | 74 | E/D | 159 | rs750100548 | 0.7234 | None | gnomAD-2.1.1 | 4.07E-06 | |
14127 | 74 | E/D | 159 | rs750100548 | 0.7234 | None | gnomAD-4.0.0 | 1.37107E-06 | |
14127 | 74 | E/Q | 159 | None | 0.7234 | None | gnomAD-4.0.0 | 1.59794E-06 | |
14128 | 75 | G/A | 161 | rs370793851 | 0.4569 | None | gnomAD-2.1.1 | 5.3E-05 | |
14128 | 75 | G/A | 161 | rs370793851 | 0.4569 | None | gnomAD-3.1.2 | 3.95E-05 | |
14128 | 75 | G/A | 161 | rs370793851 | 0.4569 | None | gnomAD-4.0.0 | 8.81726E-05 | |
14129 | 76 | K/E | 162 | None | 0.4016 | None | gnomAD-4.0.0 | 1.60068E-06 | |
14129 | 76 | K/R | 162 | None | 0.4016 | None | gnomAD-4.0.0 | 6.85945E-07 | |
14129 | 76 | K/T | 162 | rs1050750556 | 0.4016 | None | gnomAD-4.0.0 | 5.48756E-06 | |
14130 | 77 | K/N | 163 | None | 0.4273 | None | gnomAD-4.0.0 | 2.40078E-06 | |
14131 | 78 | T/N | 170 | None | 0.1028 | None | gnomAD-4.0.0 | 6.86343E-07 | |
14134 | 81 | R/P | 173 | rs764083952 | 0.3998 | None | gnomAD-2.1.1 | 8.3E-06 | |
14134 | 81 | R/P | 173 | rs764083952 | 0.3998 | None | gnomAD-4.0.0 | 2.06359E-06 | |
14134 | 81 | R/Q | 173 | rs764083952 | 0.3998 | None | gnomAD-2.1.1 | 2.94E-05 | |
14134 | 81 | R/Q | 173 | rs764083952 | 0.3998 | None | gnomAD-3.1.2 | 1.32E-05 | |
14134 | 81 | R/Q | 173 | rs764083952 | 0.3998 | None | gnomAD-4.0.0 | 1.86824E-05 | |
14134 | 81 | R/W | 173 | rs753341792 | 0.3998 | None | gnomAD-2.1.1 | 4.12E-05 | |
14134 | 81 | R/W | 173 | rs753341792 | 0.3998 | None | gnomAD-3.1.2 | 4.61E-05 | |
14134 | 81 | R/W | 173 | rs753341792 | 0.3998 | None | gnomAD-4.0.0 | 2.67458E-05 | |
14136 | 83 | F/S | 175 | None | 0.3817 | None | gnomAD-4.0.0 | 1.61712E-06 | |
14137 | 84 | V/A | 176 | None | 0.0912 | None | gnomAD-4.0.0 | 1.61779E-06 | |
14137 | 84 | V/I | 176 | rs1168812566 | 0.0912 | None | gnomAD-3.1.2 | 6.58E-06 | |
14137 | 84 | V/I | 176 | rs1168812566 | 0.0912 | None | gnomAD-4.0.0 | 1.87117E-06 | |
14138 | 85 | T/A | 178 | None | 0.4224 | None | gnomAD-4.0.0 | 6.89099E-07 | |
14138 | 85 | T/P | 178 | rs376500376 | 0.4224 | None | gnomAD-2.1.1 | 1.48E-05 | |
14138 | 85 | T/P | 178 | rs376500376 | 0.4224 | None | gnomAD-3.1.2 | 3.94E-05 | |
14138 | 85 | T/P | 178 | rs376500376 | 0.4224 | None | gnomAD-4.0.0 | 5.61355E-06 |