10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
F | K | D | G | L | E | V | I | V | P | N | P | I | T | I | L | V | P | S | T | G | Y | P | R | P | T | A | T | W | C | F | G | D | K | V | L | E | T | G | D | R | V | K | M | K | T | L | S | A | Y | A | E | L | V | I | S | P | S | E | R | S | D | K | G | I | Y | T | L | K | L | E | N | R | V | K | T | I | S | G | E | I | D | V | N | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
15968 | 1 | F/L | 3 | rs1261511850 | 0.4942 | None | gnomAD-2.1.1 | 4.03E-06 | |
15968 | 1 | F/L | 3 | rs1261511850 | 0.4942 | None | gnomAD-4.0.0 | 1.5937E-06 | |
15969 | 2 | K/I | 4 | rs2057450267 | 1.0327 | None | gnomAD-3.1.2 | 6.58E-06 | |
15969 | 2 | K/I | 4 | rs2057450267 | 1.0327 | None | gnomAD-4.0.0 | 6.58345E-06 | |
15971 | 4 | G/V | 11 | None | 0.3699 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15973 | 6 | E/K | 14 | rs375099780 | 0.6587 | None | gnomAD-2.1.1 | 2.15E-05 | |
15973 | 6 | E/K | 14 | rs375099780 | 0.6587 | None | gnomAD-3.1.2 | 2.63E-05 | |
15973 | 6 | E/K | 14 | rs375099780 | 0.6587 | None | gnomAD-4.0.0 | 5.58146E-06 | |
15974 | 7 | V/I | 16 | rs1346269011 | 0.1487 | None | gnomAD-2.1.1 | 4.03E-06 | |
15974 | 7 | V/I | 16 | rs1346269011 | 0.1487 | None | gnomAD-4.0.0 | 1.36925E-06 | |
15975 | 8 | I/T | 18 | rs755834931 | 0.6326 | None | gnomAD-2.1.1 | 8.07E-06 | |
15975 | 8 | I/T | 18 | rs755834931 | 0.6326 | None | gnomAD-3.1.2 | 6.58E-06 | |
15975 | 8 | I/T | 18 | rs755834931 | 0.6326 | None | gnomAD-4.0.0 | 2.48048E-06 | |
15976 | 9 | V/A | 23 | rs2057447237 | 0.3480 | None | gnomAD-4.0.0 | 7.96706E-06 | |
15977 | 10 | P/S | 24 | None | 0.4877 | None | gnomAD-4.0.0 | 1.59343E-06 | |
15979 | 12 | P/L | 26 | rs184815126 | 0.4451 | None | gnomAD-2.1.1 | 8.96E-05 | |
15979 | 12 | P/L | 26 | rs184815126 | 0.4451 | None | gnomAD-3.1.2 | 1.44859E-04 | |
15979 | 12 | P/L | 26 | rs184815126 | 0.4451 | None | 1000 genomes | 1.99681E-04 | |
15979 | 12 | P/L | 26 | rs184815126 | 0.4451 | None | gnomAD-4.0.0 | 1.19057E-04 | |
15979 | 12 | P/S | 26 | rs1473380697 | 0.4451 | None | gnomAD-2.1.1 | 3.19E-05 | |
15979 | 12 | P/S | 26 | rs1473380697 | 0.4451 | None | gnomAD-3.1.2 | 6.58E-06 | |
15979 | 12 | P/S | 26 | rs1473380697 | 0.4451 | None | gnomAD-4.0.0 | 6.58458E-06 | |
15980 | 13 | I/N | 28 | None | 0.1151 | None | gnomAD-4.0.0 | 1.59336E-06 | |
15980 | 13 | I/T | 28 | rs1299741531 | 0.1151 | None | gnomAD-2.1.1 | 8.07E-06 | |
15980 | 13 | I/T | 28 | rs1299741531 | 0.1151 | None | gnomAD-4.0.0 | 3.18672E-06 | |
15980 | 13 | I/V | 28 | rs780634456 | 0.1151 | None | gnomAD-2.1.1 | 6.05E-05 | |
15980 | 13 | I/V | 28 | rs780634456 | 0.1151 | None | gnomAD-3.1.2 | 2.63E-05 | |
15980 | 13 | I/V | 28 | rs780634456 | 0.1151 | None | gnomAD-4.0.0 | 2.66651E-05 | |
15981 | 14 | T/M | 29 | rs150364979 | 0.4798 | None | gnomAD-2.1.1 | 3.94E-05 | |
15981 | 14 | T/M | 29 | rs150364979 | 0.4798 | None | gnomAD-3.1.2 | 4.61E-05 | |
15981 | 14 | T/M | 29 | rs150364979 | 0.4798 | None | 1000 genomes | 3.99361E-04 | |
15981 | 14 | T/M | 29 | rs150364979 | 0.4798 | None | gnomAD-4.0.0 | 3.53451E-05 | |
15984 | 17 | V/L | 33 | rs766367585 | 0.2072 | None | gnomAD-2.1.1 | 2.02E-05 | |
15984 | 17 | V/L | 33 | rs766367585 | 0.2072 | None | gnomAD-3.1.2 | 1.32E-05 | |
15984 | 17 | V/L | 33 | rs766367585 | 0.2072 | None | gnomAD-4.0.0 | 1.15473E-05 | |
15986 | 19 | S/G | 35 | None | 0.2181 | None | gnomAD-4.0.0 | 1.59334E-06 | |
15986 | 19 | S/R | 35 | None | 0.2181 | None | gnomAD-4.0.0 | 1.59334E-06 | |
15987 | 20 | T/A | 38 | None | 0.9782 | None | gnomAD-4.0.0 | 3.60097E-06 | |
15987 | 20 | T/I | 38 | rs1429436042 | 0.9782 | None | gnomAD-2.1.1 | 7.17E-06 | |
15987 | 20 | T/I | 38 | rs1429436042 | 0.9782 | None | gnomAD-3.1.2 | 1.32E-05 | |
15987 | 20 | T/I | 38 | rs1429436042 | 0.9782 | None | gnomAD-4.0.0 | 3.10075E-06 | |
15988 | 21 | G/A | 40 | rs1182070042 | 0.3740 | None | gnomAD-2.1.1 | 4.04E-06 | |
15988 | 21 | G/A | 40 | rs1182070042 | 0.3740 | None | gnomAD-3.1.2 | 6.59E-06 | |
15988 | 21 | G/A | 40 | rs1182070042 | 0.3740 | None | gnomAD-4.0.0 | 1.86046E-06 | |
15988 | 21 | G/D | 40 | None | 0.3740 | None | gnomAD-4.0.0 | 1.36924E-06 | |
15989 | 22 | Y/S | 41 | rs2057440561 | 0.6587 | None | gnomAD-3.1.2 | 6.58E-06 | |
15989 | 22 | Y/S | 41 | rs2057440561 | 0.6587 | None | gnomAD-4.0.0 | 2.48052E-06 | |
15990 | 23 | P/L | 42 | rs1253292798 | 0.2120 | None | gnomAD-2.1.1 | 4.04E-06 | |
15990 | 23 | P/L | 42 | rs1253292798 | 0.2120 | None | gnomAD-4.0.0 | 1.59339E-06 | |
15990 | 23 | P/T | 42 | rs2057439809 | 0.2120 | None | gnomAD-3.1.2 | 6.59E-06 | |
15990 | 23 | P/T | 42 | rs2057439809 | 0.2120 | None | gnomAD-4.0.0 | 6.58597E-06 | |
15991 | 24 | R/K | 43 | rs2057438704 | 0.3335 | None | gnomAD-3.1.2 | 6.59E-06 | |
15991 | 24 | R/K | 43 | rs2057438704 | 0.3335 | None | gnomAD-4.0.0 | 3.8489E-06 | |
15993 | 26 | T/A | 45 | rs1483141685 | 0.6717 | None | gnomAD-2.1.1 | 4.04E-06 | |
15993 | 26 | T/A | 45 | rs1483141685 | 0.6717 | None | gnomAD-3.1.2 | 6.58E-06 | |
15993 | 26 | T/A | 45 | rs1483141685 | 0.6717 | None | gnomAD-4.0.0 | 3.72059E-06 | |
15993 | 26 | T/N | 45 | rs727503622 | 0.6717 | None | gnomAD-2.1.1 | 4.85E-05 | |
15993 | 26 | T/N | 45 | rs727503622 | 0.6717 | None | gnomAD-3.1.2 | 3.95E-05 | |
15993 | 26 | T/N | 45 | rs727503622 | 0.6717 | None | gnomAD-4.0.0 | 5.95271E-05 | |
15995 | 28 | T/I | 47 | rs1205858771 | 0.4497 | None | gnomAD-2.1.1 | 1.21E-05 | |
15995 | 28 | T/I | 47 | rs1205858771 | 0.4497 | None | gnomAD-4.0.0 | 4.78025E-06 | |
15996 | 29 | W/R | 48 | rs1324349099 | 0.1495 | None | gnomAD-2.1.1 | 4.04E-06 | |
15996 | 29 | W/R | 48 | rs1324349099 | 0.1495 | None | gnomAD-4.0.0 | 1.20032E-06 | |
15997 | 30 | C/R | 49 | rs2057436649 | 0.1407 | None | gnomAD-4.0.0 | 2.05383E-06 | |
16000 | 33 | D/H | 52 | rs201388509 | 1.2004 | None | gnomAD-2.1.1 | 8.75393E-04 | |
16000 | 33 | D/H | 52 | rs201388509 | 1.2004 | None | gnomAD-3.1.2 | 4.74002E-04 | |
16000 | 33 | D/H | 52 | rs201388509 | 1.2004 | None | gnomAD-4.0.0 | 6.67874E-04 | |
16001 | 34 | K/T | 55 | None | 0.8061 | None | gnomAD-4.0.0 | 6.8462E-07 | |
16002 | 35 | V/A | 56 | None | 0.5193 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16003 | 36 | L/P | 58 | None | 0.2498 | None | gnomAD-4.0.0 | 4.80129E-06 | |
16003 | 36 | L/Q | 58 | None | 0.2498 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16003 | 36 | L/V | 58 | rs2057435280 | 0.2498 | None | gnomAD-4.0.0 | 2.40064E-06 | |
16004 | 37 | E/Q | 69 | rs1305953554 | 0.9024 | None | gnomAD-2.1.1 | 3.19E-05 | |
16004 | 37 | E/Q | 69 | rs1305953554 | 0.9024 | None | gnomAD-3.1.2 | 1.32E-05 | |
16004 | 37 | E/Q | 69 | rs1305953554 | 0.9024 | None | gnomAD-4.0.0 | 1.31673E-05 | |
16005 | 38 | T/R | 70 | rs557711303 | 0.6173 | None | gnomAD-2.1.1 | 4.45E-05 | |
16005 | 38 | T/R | 70 | rs557711303 | 0.6173 | None | gnomAD-3.1.2 | 6.58E-06 | |
16005 | 38 | T/R | 70 | rs557711303 | 0.6173 | None | 1000 genomes | 1.99681E-04 | |
16005 | 38 | T/R | 70 | rs557711303 | 0.6173 | None | gnomAD-4.0.0 | 1.17816E-05 | |
16007 | 40 | D/A | 102 | None | 1.2075 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16007 | 40 | D/G | 102 | None | 1.2075 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16008 | 41 | R/Q | 115 | rs771224957 | 0.2611 | None | gnomAD-2.1.1 | 4.85E-05 | |
16008 | 41 | R/Q | 115 | rs771224957 | 0.2611 | None | gnomAD-3.1.2 | 2.63E-05 | |
16008 | 41 | R/Q | 115 | rs771224957 | 0.2611 | None | gnomAD-4.0.0 | 2.4806E-05 | |
16008 | 41 | R/W | 115 | rs374233884 | 0.2611 | None | gnomAD-2.1.1 | 4.85E-05 | |
16008 | 41 | R/W | 115 | rs374233884 | 0.2611 | None | gnomAD-3.1.2 | 1.32E-05 | |
16008 | 41 | R/W | 115 | rs374233884 | 0.2611 | None | gnomAD-4.0.0 | 2.72881E-05 | |
16011 | 44 | M/K | 123 | rs754476448 | 0.2519 | None | gnomAD-2.1.1 | 4.04E-06 | |
16011 | 44 | M/K | 123 | rs754476448 | 0.2519 | None | gnomAD-4.0.0 | 1.59342E-06 | |
16011 | 44 | M/L | 123 | rs2057430737 | 0.2519 | None | gnomAD-3.1.2 | 6.58E-06 | |
16011 | 44 | M/L | 123 | rs2057430737 | 0.2519 | None | gnomAD-4.0.0 | 6.58432E-06 | |
16012 | 45 | K/T | 125 | rs2057430031 | 0.4929 | None | gnomAD-3.1.2 | 6.58E-06 | |
16012 | 45 | K/T | 125 | rs2057430031 | 0.4929 | None | gnomAD-4.0.0 | 6.58215E-06 | |
16013 | 46 | T/I | 127 | rs746576156 | 0.3313 | None | gnomAD-2.1.1 | 8.08E-06 | |
16013 | 46 | T/I | 127 | rs746576156 | 0.3313 | None | gnomAD-3.1.2 | 6.59E-06 | |
16013 | 46 | T/I | 127 | rs746576156 | 0.3313 | None | gnomAD-4.0.0 | 3.10079E-06 | |
16013 | 46 | T/N | 127 | rs746576156 | 0.3313 | None | gnomAD-2.1.1 | 8.08E-06 | |
16013 | 46 | T/N | 127 | rs746576156 | 0.3313 | None | gnomAD-3.1.2 | 6.59E-06 | |
16013 | 46 | T/N | 127 | rs746576156 | 0.3313 | None | gnomAD-4.0.0 | 2.48063E-06 | |
16014 | 47 | L/S | 130 | None | 0.3538 | None | gnomAD-4.0.0 | 7.20193E-06 | |
16016 | 49 | A/T | 134 | None | 0.3965 | None | gnomAD-4.0.0 | 3.60097E-06 | |
16017 | 50 | Y/C | 135 | None | 0.2920 | None | gnomAD-4.0.0 | 6.84615E-07 | |
16017 | 50 | Y/S | 135 | None | 0.2920 | None | gnomAD-4.0.0 | 6.84615E-06 | |
16018 | 51 | A/G | 136 | rs1366008715 | 0.0996 | None | gnomAD-2.1.1 | 7.17E-06 | |
16018 | 51 | A/G | 136 | rs1366008715 | 0.0996 | None | gnomAD-3.1.2 | 6.59E-06 | |
16018 | 51 | A/G | 136 | rs1366008715 | 0.0996 | None | gnomAD-4.0.0 | 5.13222E-06 | |
16018 | 51 | A/S | 136 | rs1451009964 | 0.0996 | None | gnomAD-2.1.1 | 7.17E-06 | |
16018 | 51 | A/S | 136 | rs1451009964 | 0.0996 | None | gnomAD-3.1.2 | 6.58E-06 | |
16018 | 51 | A/S | 136 | rs1451009964 | 0.0996 | None | gnomAD-4.0.0 | 5.13181E-06 | |
16019 | 52 | E/A | 137 | None | 0.2772 | None | gnomAD-4.0.0 | 3.18685E-06 | |
16019 | 52 | E/K | 137 | rs758399903 | 0.2772 | None | gnomAD-2.1.1 | 4.85E-05 | |
16019 | 52 | E/K | 137 | rs758399903 | 0.2772 | None | gnomAD-3.1.2 | 1.98E-05 | |
16019 | 52 | E/K | 137 | rs758399903 | 0.2772 | None | gnomAD-4.0.0 | 2.29462E-05 | |
16024 | 57 | P/A | 143 | rs750357667 | 0.4409 | None | gnomAD-2.1.1 | 8.08E-06 | |
16024 | 57 | P/A | 143 | rs750357667 | 0.4409 | None | gnomAD-3.1.2 | 3.29E-05 | |
16024 | 57 | P/A | 143 | rs750357667 | 0.4409 | None | gnomAD-4.0.0 | 5.58132E-06 | |
16024 | 57 | P/L | 143 | None | 0.4409 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16024 | 57 | P/S | 143 | rs750357667 | 0.4409 | None | gnomAD-2.1.1 | 4.04E-06 | |
16024 | 57 | P/S | 143 | rs750357667 | 0.4409 | None | gnomAD-4.0.0 | 2.73843E-05 | |
16025 | 58 | S/N | 144 | rs727504720 | 0.0999 | None | gnomAD-4.0.0 | 1.59335E-06 | |
16025 | 58 | S/R | 144 | rs1185643168 | 0.0999 | None | gnomAD-2.1.1 | 4.04E-06 | |
16025 | 58 | S/R | 144 | rs1185643168 | 0.0999 | None | gnomAD-4.0.0 | 1.59335E-06 | |
16027 | 60 | R/C | 146 | rs765032242 | 0.7607 | None | gnomAD-2.1.1 | 2.87E-05 | |
16027 | 60 | R/C | 146 | rs765032242 | 0.7607 | None | gnomAD-3.1.2 | 1.98E-05 | |
16027 | 60 | R/C | 146 | rs765032242 | 0.7607 | None | gnomAD-4.0.0 | 1.42637E-05 | |
16027 | 60 | R/H | 146 | rs757013471 | 0.7607 | None | gnomAD-2.1.1 | 5.73E-05 | |
16027 | 60 | R/H | 146 | rs757013471 | 0.7607 | None | gnomAD-3.1.2 | 6.58E-06 | |
16027 | 60 | R/H | 146 | rs757013471 | 0.7607 | None | gnomAD-4.0.0 | 1.86038E-05 | |
16029 | 62 | D/Y | 149 | None | 0.1346 | None | gnomAD-4.0.0 | 1.5933E-06 | |
16030 | 63 | K/E | 151 | rs764470678 | 0.4269 | None | gnomAD-2.1.1 | 4.04E-06 | |
16030 | 63 | K/E | 151 | rs764470678 | 0.4269 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16030 | 63 | K/R | 151 | rs1262384504 | 0.4269 | None | gnomAD-2.1.1 | 4.04E-06 | |
16030 | 63 | K/R | 151 | rs1262384504 | 0.4269 | None | gnomAD-4.0.0 | 3.18655E-06 | |
16031 | 64 | G/D | 152 | None | 0.1618 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16032 | 65 | I/T | 153 | rs879171203 | 0.4580 | None | gnomAD-2.1.1 | 4.04E-06 | |
16032 | 65 | I/T | 153 | rs879171203 | 0.4580 | None | gnomAD-4.0.0 | 1.59322E-06 | |
16032 | 65 | I/V | 153 | rs794729443 | 0.4580 | None | gnomAD-2.1.1 | 4.04E-06 | |
16032 | 65 | I/V | 153 | rs794729443 | 0.4580 | None | gnomAD-4.0.0 | 1.59324E-06 | |
16033 | 66 | Y/H | 154 | None | 0.1030 | None | gnomAD-4.0.0 | 1.59323E-06 | |
16034 | 67 | T/I | 155 | rs1247903486 | 0.2320 | None | gnomAD-2.1.1 | 7.67E-05 | |
16034 | 67 | T/I | 155 | rs1247903486 | 0.2320 | None | gnomAD-3.1.2 | 1.90938E-04 | |
16034 | 67 | T/I | 155 | rs1247903486 | 0.2320 | None | gnomAD-4.0.0 | 6.02951E-05 | |
16034 | 67 | T/K | 155 | None | 0.2320 | None | gnomAD-4.0.0 | 1.59333E-06 | |
16035 | 68 | L/V | 156 | rs371209083 | 0.1188 | None | gnomAD-2.1.1 | 4.04E-06 | |
16035 | 68 | L/V | 156 | rs371209083 | 0.1188 | None | gnomAD-3.1.2 | 1.32E-05 | |
16035 | 68 | L/V | 156 | rs371209083 | 0.1188 | None | gnomAD-4.0.0 | 5.13148E-06 | |
16036 | 69 | K/Q | 157 | rs886055271 | 0.4857 | None | gnomAD-4.0.0 | 4.79216E-06 | |
16039 | 72 | N/K | 161 | None | 0.1678 | None | gnomAD-4.0.0 | 1.20032E-06 | |
16040 | 73 | R/C | 162 | rs774736458 | 0.7559 | None | gnomAD-2.1.1 | 2.02E-05 | |
16040 | 73 | R/C | 162 | rs774736458 | 0.7559 | None | gnomAD-3.1.2 | 2.64E-05 | |
16040 | 73 | R/C | 162 | rs774736458 | 0.7559 | None | gnomAD-4.0.0 | 1.24044E-05 | |
16040 | 73 | R/H | 162 | rs956699957 | 0.7559 | None | gnomAD-2.1.1 | 1.21E-05 | |
16040 | 73 | R/H | 162 | rs956699957 | 0.7559 | None | gnomAD-3.1.2 | 2.63E-05 | |
16040 | 73 | R/H | 162 | rs956699957 | 0.7559 | None | gnomAD-4.0.0 | 1.42627E-05 | |
16041 | 74 | V/M | 163 | rs2057419029 | 0.6888 | None | gnomAD-4.0.0 | 1.36929E-06 | |
16043 | 76 | T/A | 165 | None | 0.3460 | None | gnomAD-4.0.0 | 1.59361E-06 | |
16043 | 76 | T/I | 165 | None | 0.3460 | None | gnomAD-4.0.0 | 4.78097E-06 | |
16043 | 76 | T/R | 165 | rs2057418334 | 0.3460 | None | gnomAD-3.1.2 | 6.58E-06 | |
16043 | 76 | T/R | 165 | rs2057418334 | 0.3460 | None | gnomAD-4.0.0 | 6.58406E-06 | |
16048 | 81 | I/T | 172 | rs749678590 | 0.1178 | None | gnomAD-2.1.1 | 1.97876E-04 | |
16048 | 81 | I/T | 172 | rs749678590 | 0.1178 | None | gnomAD-3.1.2 | 1.32E-05 | |
16048 | 81 | I/T | 172 | rs749678590 | 0.1178 | None | gnomAD-4.0.0 | 3.90696E-05 | |
16048 | 81 | I/V | 172 | None | 0.1178 | None | gnomAD-4.0.0 | 1.59377E-06 | |
16050 | 83 | V/G | 174 | None | 0.0947 | None | gnomAD-4.0.0 | 4.79278E-06 | |
16051 | 84 | N/I | 175 | None | 0.3780 | None | gnomAD-4.0.0 | 2.05405E-06 | |
16051 | 84 | N/S | 175 | rs534426018 | 0.3780 | None | gnomAD-2.1.1 | 2.83E-05 | |
16051 | 84 | N/S | 175 | rs534426018 | 0.3780 | None | gnomAD-3.1.2 | 1.32E-05 | |
16051 | 84 | N/S | 175 | rs534426018 | 0.3780 | None | 1000 genomes | 1.99681E-04 | |
16051 | 84 | N/S | 175 | rs534426018 | 0.3780 | None | gnomAD-4.0.0 | 1.48831E-05 | |
16052 | 85 | V/E | 177 | rs1191348634 | 0.1109 | None | gnomAD-2.1.1 | 8.07E-06 | |
16052 | 85 | V/E | 177 | rs1191348634 | 0.1109 | None | gnomAD-4.0.0 | 4.80129E-06 | |
16052 | 85 | V/I | 177 | rs768343058 | 0.1109 | None | gnomAD-2.1.1 | 4.04E-06 | |
16052 | 85 | V/I | 177 | rs768343058 | 0.1109 | None | gnomAD-4.0.0 | 2.40065E-06 |