10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A | R | I | I | E | K | P | E | P | M | T | V | T | T | G | N | P | F | A | L | E | C | V | V | T | G | T | P | E | L | S | A | K | W | F | K | D | G | R | E | L | S | A | D | S | K | H | H | I | T | F | I | N | K | V | A | S | L | K | I | P | C | A | E | M | S | D | K | G | L | Y | S | F | E | V | K | N | S | V | G | K | S | N | C | T | V | S | V | H | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
7889 | 1 | A/E | 1 | None | 0.1376 | None | gnomAD-4.0.0 | 2.06755E-06 | |
7889 | 1 | A/S | 1 | rs777855676 | 0.1376 | None | gnomAD-2.1.1 | 4.15E-06 | |
7889 | 1 | A/S | 1 | rs777855676 | 0.1376 | None | gnomAD-3.1.2 | 6.58E-06 | |
7889 | 1 | A/S | 1 | rs777855676 | 0.1376 | None | gnomAD-4.0.0 | 3.11945E-06 | |
7889 | 1 | A/T | 1 | rs777855676 | 0.1376 | None | gnomAD-2.1.1 | 6.64E-05 | |
7889 | 1 | A/T | 1 | rs777855676 | 0.1376 | None | gnomAD-3.1.2 | 6.58E-06 | |
7889 | 1 | A/T | 1 | rs777855676 | 0.1376 | None | gnomAD-4.0.0 | 4.05528E-05 | |
7889 | 1 | A/V | 1 | None | 0.1376 | None | gnomAD-4.0.0 | 6.89185E-07 | |
7890 | 2 | R/G | 2 | rs1356279706 | 0.7792 | None | gnomAD-2.1.1 | 4.14E-06 | |
7890 | 2 | R/I | 2 | rs370939248 | 0.7792 | None | gnomAD-2.1.1 | 1.24E-05 | |
7890 | 2 | R/I | 2 | rs370939248 | 0.7792 | None | gnomAD-3.1.2 | 1.31E-05 | |
7890 | 2 | R/I | 2 | rs370939248 | 0.7792 | None | gnomAD-4.0.0 | 1.55928E-05 | |
7892 | 4 | I/L | 4 | None | 0.4817 | None | gnomAD-4.0.0 | 6.88564E-07 | |
7892 | 4 | I/R | 4 | rs201181445 | 0.4817 | None | gnomAD-2.1.1 | 1.63E-05 | |
7892 | 4 | I/R | 4 | rs201181445 | 0.4817 | None | gnomAD-3.1.2 | 1.97E-05 | |
7892 | 4 | I/R | 4 | rs201181445 | 0.4817 | None | gnomAD-4.0.0 | 9.94737E-06 | |
7892 | 4 | I/T | 4 | rs201181445 | 0.4817 | None | gnomAD-2.1.1 | 9.42E-05 | |
7892 | 4 | I/T | 4 | rs201181445 | 0.4817 | None | gnomAD-3.1.2 | 7.23E-05 | |
7892 | 4 | I/T | 4 | rs201181445 | 0.4817 | None | 1000 genomes | 1.99681E-04 | |
7892 | 4 | I/T | 4 | rs201181445 | 0.4817 | None | gnomAD-4.0.0 | 7.45998E-05 | |
7892 | 4 | I/V | 4 | rs2078060561 | 0.4817 | None | gnomAD-4.0.0 | 2.06569E-06 | |
7895 | 7 | P/L | 8 | None | 0.2376 | None | gnomAD-4.0.0 | 3.19471E-06 | |
7895 | 7 | P/S | 8 | None | 0.2376 | None | gnomAD-4.0.0 | 6.85389E-07 | |
7895 | 7 | P/T | 8 | None | 0.2376 | None | gnomAD-4.0.0 | 1.02808E-05 | |
7896 | 8 | E/K | 9 | rs786205400 | 0.8881 | None | gnomAD-2.1.1 | 2.03E-05 | |
7896 | 8 | E/K | 9 | rs786205400 | 0.8881 | None | gnomAD-3.1.2 | 1.31E-05 | |
7896 | 8 | E/K | 9 | rs786205400 | 0.8881 | None | gnomAD-4.0.0 | 9.92933E-06 | |
7897 | 9 | P/S | 11 | rs1276562007 | 0.5777 | None | gnomAD-4.0.0 | 1.59651E-06 | |
7898 | 10 | M/I | 13 | rs751897366 | 0.2849 | None | gnomAD-2.1.1 | 6.07E-05 | |
7898 | 10 | M/I | 13 | rs751897366 | 0.2849 | None | gnomAD-3.1.2 | 2.63E-05 | |
7898 | 10 | M/I | 13 | rs751897366 | 0.2849 | None | gnomAD-4.0.0 | 6.84579E-07 | |
7900 | 12 | V/A | 16 | None | 0.1323 | None | gnomAD-4.0.0 | 2.40064E-06 | |
7903 | 15 | G/E | 24 | rs1362459833 | 0.3123 | None | gnomAD-2.1.1 | 4.04E-06 | |
7903 | 15 | G/E | 24 | rs1362459833 | 0.3123 | None | gnomAD-4.0.0 | 6.84411E-07 | |
7903 | 15 | G/V | 24 | None | 0.3123 | None | gnomAD-4.0.0 | 6.84411E-07 | |
7905 | 17 | P/A | 26 | rs756887462 | 0.4863 | None | gnomAD-2.1.1 | 8.07E-06 | |
7905 | 17 | P/A | 26 | rs756887462 | 0.4863 | None | gnomAD-3.1.2 | 6.57E-06 | |
7905 | 17 | P/A | 26 | rs756887462 | 0.4863 | None | gnomAD-4.0.0 | 2.56346E-06 | |
7905 | 17 | P/L | 26 | None | 0.4863 | None | gnomAD-4.0.0 | 1.59207E-06 | |
7905 | 17 | P/S | 26 | None | 0.4863 | None | gnomAD-4.0.0 | 1.59211E-06 | |
7906 | 18 | F/L | 28 | rs753446112 | 0.1661 | None | gnomAD-2.1.1 | 8.07E-06 | |
7906 | 18 | F/L | 28 | rs753446112 | 0.1661 | None | gnomAD-4.0.0 | 1.91094E-05 | |
7909 | 21 | E/G | 31 | None | 0.4180 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7909 | 21 | E/Q | 31 | rs1161435142 | 0.4180 | None | gnomAD-2.1.1 | 4.03E-06 | |
7909 | 21 | E/Q | 31 | rs1161435142 | 0.4180 | None | gnomAD-3.1.2 | 6.57E-06 | |
7909 | 21 | E/Q | 31 | rs1161435142 | 0.4180 | None | gnomAD-4.0.0 | 2.23122E-05 | |
7910 | 22 | C/F | 33 | rs763596594 | 0.0722 | None | gnomAD-4.0.0 | 1.36858E-06 | |
7910 | 22 | C/G | 33 | None | 0.0722 | None | gnomAD-4.0.0 | 6.84298E-07 | |
7910 | 22 | C/R | 33 | rs1577982173 | 0.0722 | None | gnomAD-4.0.0 | 4.10579E-06 | |
7910 | 22 | C/Y | 33 | rs763596594 | 0.0722 | None | gnomAD-2.1.1 | 4.03E-06 | |
7910 | 22 | C/Y | 33 | rs763596594 | 0.0722 | None | gnomAD-4.0.0 | 6.8429E-07 | |
7912 | 24 | V/L | 35 | rs797001857 | 0.1106 | None | gnomAD-2.1.1 | 3.18E-05 | |
7912 | 24 | V/L | 35 | rs797001857 | 0.1106 | None | gnomAD-3.1.2 | 1.31E-05 | |
7912 | 24 | V/L | 35 | rs797001857 | 0.1106 | None | gnomAD-4.0.0 | 5.12538E-06 | |
7913 | 25 | T/I | 38 | None | 0.3986 | None | gnomAD-4.0.0 | 6.8427E-07 | |
7913 | 25 | T/S | 38 | None | 0.3986 | None | gnomAD-4.0.0 | 6.8427E-07 | |
7914 | 26 | G/E | 40 | None | 0.2839 | None | gnomAD-4.0.0 | 4.80129E-06 | |
7916 | 28 | P/R | 42 | rs764130233 | 0.7203 | None | gnomAD-2.1.1 | 1.61E-05 | |
7916 | 28 | P/R | 42 | rs764130233 | 0.7203 | None | gnomAD-3.1.2 | 6.57E-06 | |
7916 | 28 | P/R | 42 | rs764130233 | 0.7203 | None | gnomAD-4.0.0 | 2.29309E-05 | |
7916 | 28 | P/S | 42 | rs1264639309 | 0.7203 | None | gnomAD-4.0.0 | 1.59153E-06 | |
7917 | 29 | E/K | 43 | rs1288323003 | 0.9243 | None | gnomAD-2.1.1 | 4.02E-06 | |
7917 | 29 | E/K | 43 | rs1288323003 | 0.9243 | None | gnomAD-4.0.0 | 2.05276E-06 | |
7918 | 30 | L/F | 44 | rs767543848 | 0.2483 | None | gnomAD-2.1.1 | 1.79E-05 | |
7918 | 30 | L/F | 44 | rs767543848 | 0.2483 | None | gnomAD-3.1.2 | 1.31E-05 | |
7918 | 30 | L/F | 44 | rs767543848 | 0.2483 | None | gnomAD-4.0.0 | 3.84394E-06 | |
7919 | 31 | S/A | 45 | rs77183835 | 0.3525 | None | gnomAD-2.1.1 | 4.02E-06 | |
7919 | 31 | S/A | 45 | rs77183835 | 0.3525 | None | gnomAD-4.0.0 | 6.84249E-07 | |
7919 | 31 | S/P | 45 | None | 0.3525 | None | gnomAD-4.0.0 | 1.3685E-06 | |
7920 | 32 | A/D | 46 | None | 0.2859 | None | gnomAD-4.0.0 | 1.36851E-06 | |
7920 | 32 | A/T | 46 | rs774246101 | 0.2859 | None | gnomAD-2.1.1 | 4.02E-06 | |
7920 | 32 | A/T | 46 | rs774246101 | 0.2859 | None | gnomAD-4.0.0 | 1.59147E-06 | |
7920 | 32 | A/V | 46 | None | 0.2859 | None | gnomAD-4.0.0 | 6.84257E-07 | |
7922 | 34 | W/C | 48 | rs1342595109 | 0.1072 | None | gnomAD-2.1.1 | 4.02E-06 | |
7922 | 34 | W/C | 48 | rs1342595109 | 0.1072 | None | gnomAD-4.0.0 | 2.05274E-06 | |
7922 | 34 | W/R | 48 | rs1049106432 | 0.1072 | None | gnomAD-2.1.1 | 1.43E-05 | |
7922 | 34 | W/R | 48 | rs1049106432 | 0.1072 | None | gnomAD-3.1.2 | 1.31E-05 | |
7922 | 34 | W/R | 48 | rs1049106432 | 0.1072 | None | gnomAD-4.0.0 | 6.84249E-07 | |
7924 | 36 | K/N | 50 | rs373894127 | 0.1497 | None | gnomAD-2.1.1 | 2.41E-05 | |
7924 | 36 | K/N | 50 | rs373894127 | 0.1497 | None | gnomAD-3.1.2 | 1.97E-05 | |
7924 | 36 | K/N | 50 | rs373894127 | 0.1497 | None | gnomAD-4.0.0 | 1.42537E-05 | |
7924 | 36 | K/Q | 50 | rs770650362 | 0.1497 | None | gnomAD-2.1.1 | 7.14E-06 | |
7924 | 36 | K/Q | 50 | rs770650362 | 0.1497 | None | gnomAD-3.1.2 | 1.97E-05 | |
7924 | 36 | K/Q | 50 | rs770650362 | 0.1497 | None | gnomAD-4.0.0 | 6.81684E-06 | |
7924 | 36 | K/R | 50 | rs749465424 | 0.1497 | None | gnomAD-2.1.1 | 8.04E-06 | |
7924 | 36 | K/R | 50 | rs749465424 | 0.1497 | None | gnomAD-4.0.0 | 3.18287E-06 | |
7926 | 38 | G/E | 52 | None | 0.4795 | None | gnomAD-4.0.0 | 3.18284E-06 | |
7926 | 38 | G/R | 52 | rs1462977201 | 0.4795 | None | gnomAD-2.1.1 | 4.02E-06 | |
7926 | 38 | G/R | 52 | rs1462977201 | 0.4795 | None | gnomAD-4.0.0 | 6.84239E-07 | |
7926 | 38 | G/V | 52 | None | 0.4795 | None | gnomAD-4.0.0 | 1.59142E-06 | |
7927 | 39 | R/K | 55 | None | 0.8024 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7928 | 40 | E/Q | 56 | rs770121355 | 0.3644 | None | gnomAD-2.1.1 | 1.21E-05 | |
7928 | 40 | E/Q | 56 | rs770121355 | 0.3644 | None | gnomAD-4.0.0 | 4.77435E-06 | |
7930 | 42 | S/F | 59 | None | 0.6527 | None | gnomAD-4.0.0 | 1.59141E-06 | |
7930 | 42 | S/P | 59 | rs2078046090 | 0.6527 | None | gnomAD-3.1.2 | 6.57E-06 | |
7930 | 42 | S/P | 59 | rs2078046090 | 0.6527 | None | gnomAD-4.0.0 | 6.5735E-06 | |
7932 | 44 | D/E | 73 | rs1271514661 | 0.3101 | None | gnomAD-3.1.2 | 6.57E-06 | |
7932 | 44 | D/E | 73 | rs1271514661 | 0.3101 | None | gnomAD-4.0.0 | 6.57428E-06 | |
7932 | 44 | D/G | 73 | None | 0.3101 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7933 | 45 | S/N | 111 | rs748211413 | 0.7706 | None | gnomAD-2.1.1 | 3.62E-05 | |
7933 | 45 | S/N | 111 | rs748211413 | 0.7706 | None | gnomAD-4.0.0 | 5.4739E-06 | |
7933 | 45 | S/R | 111 | rs971822039 | 0.7706 | None | gnomAD-2.1.1 | 8.04E-06 | |
7933 | 45 | S/R | 111 | rs971822039 | 0.7706 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7935 | 47 | H/Y | 121 | None | 0.2441 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7936 | 48 | H/P | 122 | None | 0.4576 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7937 | 49 | I/M | 123 | None | 0.2591 | None | gnomAD-4.0.0 | 1.59136E-06 | |
7937 | 49 | I/V | 123 | None | 0.2591 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7939 | 51 | F/L | 127 | rs866647945 | 0.3323 | None | gnomAD-4.0.0 | 6.84224E-07 | |
7940 | 52 | I/N | 130 | None | 0.6585 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7940 | 52 | I/V | 130 | None | 0.6585 | None | gnomAD-4.0.0 | 2.40064E-06 | |
7941 | 53 | N/D | 131 | rs2078042798 | 0.8620 | None | gnomAD-3.1.2 | 6.57E-06 | |
7941 | 53 | N/D | 131 | rs2078042798 | 0.8620 | None | gnomAD-4.0.0 | 3.045E-06 | |
7941 | 53 | N/K | 131 | rs370320967 | 0.8620 | None | gnomAD-2.1.1 | 4.02E-06 | |
7941 | 53 | N/K | 131 | rs370320967 | 0.8620 | None | gnomAD-3.1.2 | 6.58E-06 | |
7941 | 53 | N/K | 131 | rs370320967 | 0.8620 | None | gnomAD-4.0.0 | 3.04516E-06 | |
7941 | 53 | N/S | 131 | None | 0.8620 | None | gnomAD-4.0.0 | 3.42111E-06 | |
7942 | 54 | K/E | 134 | rs780339774 | 0.3301 | None | gnomAD-2.1.1 | 4.02E-05 | |
7942 | 54 | K/E | 134 | rs780339774 | 0.3301 | None | gnomAD-4.0.0 | 2.18951E-05 | |
7944 | 56 | A/P | 136 | None | 0.0691 | None | gnomAD-4.0.0 | 1.59137E-06 | |
7945 | 57 | S/C | 137 | rs867642789 | 0.1666 | None | gnomAD-3.1.2 | 6.58E-06 | |
7945 | 57 | S/C | 137 | rs867642789 | 0.1666 | None | gnomAD-4.0.0 | 2.30631E-05 | |
7949 | 61 | P/H | 141 | None | 0.3732 | None | gnomAD-4.0.0 | 1.59141E-06 | |
7949 | 61 | P/S | 141 | None | 0.3732 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7950 | 62 | C/S | 143 | None | 0.4420 | None | gnomAD-4.0.0 | 1.20032E-06 | |
7951 | 63 | A/T | 144 | None | 0.0971 | None | gnomAD-4.0.0 | 2.05267E-06 | |
7952 | 64 | E/K | 145 | rs752227139 | 0.4723 | None | gnomAD-2.1.1 | 1.79E-05 | |
7952 | 64 | E/K | 145 | rs752227139 | 0.4723 | None | gnomAD-3.1.2 | 4.6E-05 | |
7952 | 64 | E/K | 145 | rs752227139 | 0.4723 | None | gnomAD-4.0.0 | 4.15235E-05 | |
7953 | 65 | M/I | 146 | rs1218890532 | 0.4863 | None | gnomAD-2.1.1 | 4.02E-06 | |
7953 | 65 | M/I | 146 | rs1218890532 | 0.4863 | None | gnomAD-4.0.0 | 1.36846E-06 | |
7955 | 67 | D/A | 149 | rs767163830 | 0.1444 | None | gnomAD-2.1.1 | 4.02E-06 | |
7955 | 67 | D/A | 149 | rs767163830 | 0.1444 | None | gnomAD-4.0.0 | 1.59138E-06 | |
7955 | 67 | D/E | 149 | rs759495262 | 0.1444 | None | gnomAD-2.1.1 | 4.02E-06 | |
7955 | 67 | D/E | 149 | rs759495262 | 0.1444 | None | gnomAD-4.0.0 | 2.73696E-06 | |
7956 | 68 | K/I | 151 | rs1405929725 | 0.5065 | None | gnomAD-3.1.2 | 6.57E-06 | |
7956 | 68 | K/I | 151 | rs1405929725 | 0.5065 | None | gnomAD-4.0.0 | 6.57393E-06 | |
7957 | 69 | G/E | 152 | None | 0.1683 | None | gnomAD-4.0.0 | 1.59145E-06 | |
7959 | 71 | Y/C | 154 | rs1442939015 | 0.1152 | None | gnomAD-2.1.1 | 4.02E-06 | |
7959 | 71 | Y/C | 154 | rs1442939015 | 0.1152 | None | gnomAD-4.0.0 | 3.183E-06 | |
7959 | 71 | Y/D | 154 | None | 0.1152 | None | gnomAD-4.0.0 | 6.84253E-07 | |
7959 | 71 | Y/H | 154 | rs1056651296 | 0.1152 | None | gnomAD-4.0.0 | 6.84253E-07 | |
7960 | 72 | S/N | 155 | rs369302142 | 0.1992 | None | gnomAD-2.1.1 | 3.62E-05 | |
7960 | 72 | S/N | 155 | rs369302142 | 0.1992 | None | gnomAD-3.1.2 | 1.31E-05 | |
7960 | 72 | S/N | 155 | rs369302142 | 0.1992 | None | gnomAD-4.0.0 | 1.7356E-05 | |
7961 | 73 | F/L | 156 | None | 0.0779 | None | gnomAD-4.0.0 | 6.84365E-06 | |
7963 | 75 | V/M | 158 | rs1444280524 | 0.0842 | None | gnomAD-2.1.1 | 4.03E-06 | |
7963 | 75 | V/M | 158 | rs1444280524 | 0.0842 | None | gnomAD-4.0.0 | 1.36895E-06 | |
7965 | 77 | N/D | 161 | None | 0.1694 | None | gnomAD-4.0.0 | 3.42398E-06 | |
7965 | 77 | N/K | 161 | rs1363515138 | 0.1694 | None | gnomAD-3.1.2 | 1.31E-05 | |
7965 | 77 | N/K | 161 | rs1363515138 | 0.1694 | None | gnomAD-4.0.0 | 1.3146E-05 | |
7966 | 78 | S/G | 162 | rs766127559 | 0.6568 | None | gnomAD-2.1.1 | 4.03E-06 | |
7966 | 78 | S/G | 162 | rs766127559 | 0.6568 | None | gnomAD-4.0.0 | 6.37885E-06 | |
7966 | 78 | S/R | 162 | rs773116614 | 0.6568 | None | gnomAD-2.1.1 | 1.59307E-04 | |
7966 | 78 | S/R | 162 | rs773116614 | 0.6568 | None | gnomAD-3.1.2 | 3.29E-05 | |
7966 | 78 | S/R | 162 | rs773116614 | 0.6568 | None | gnomAD-4.0.0 | 3.72202E-06 | |
7966 | 78 | S/T | 162 | rs762651037 | 0.6568 | None | gnomAD-2.1.1 | 1.21E-05 | |
7966 | 78 | S/T | 162 | rs762651037 | 0.6568 | None | gnomAD-3.1.2 | 6.57E-06 | |
7966 | 78 | S/T | 162 | rs762651037 | 0.6568 | None | gnomAD-4.0.0 | 4.96211E-06 | |
7968 | 80 | G/V | 164 | None | 0.2470 | None | gnomAD-4.0.0 | 1.37035E-06 | |
7969 | 81 | K/N | 165 | rs1454384580 | 0.4466 | None | gnomAD-2.1.1 | 4.03E-06 | |
7971 | 83 | N/K | 168 | None | 0.6422 | None | gnomAD-4.0.0 | 1.3709E-06 | |
7972 | 84 | C/Y | 169 | rs376354376 | 0.1633 | None | gnomAD-2.1.1 | 4.04E-06 | |
7972 | 84 | C/Y | 169 | rs376354376 | 0.1633 | None | gnomAD-3.1.2 | 6.57E-06 | |
7972 | 84 | C/Y | 169 | rs376354376 | 0.1633 | None | 1000 genomes | 1.99681E-04 | |
7972 | 84 | C/Y | 169 | rs376354376 | 0.1633 | None | gnomAD-4.0.0 | 3.72528E-06 | |
7973 | 85 | T/A | 171 | None | 0.4511 | None | gnomAD-4.0.0 | 1.59876E-06 | |
7973 | 85 | T/I | 171 | rs768738299 | 0.4511 | None | gnomAD-2.1.1 | 4.04E-06 | |
7973 | 85 | T/I | 171 | rs768738299 | 0.4511 | None | gnomAD-4.0.0 | 1.59921E-06 | |
7975 | 87 | S/C | 173 | rs2078029519 | 0.3046 | None | gnomAD-4.0.0 | 2.06075E-06 | |
7975 | 87 | S/F | 173 | None | 0.3046 | None | gnomAD-4.0.0 | 6.86917E-07 | |
7976 | 88 | V/I | 174 | rs200395305 | 0.1024 | None | gnomAD-2.1.1 | 4.69E-05 | |
7976 | 88 | V/I | 174 | rs200395305 | 0.1024 | None | gnomAD-3.1.2 | 1.05164E-04 | |
7976 | 88 | V/I | 174 | rs200395305 | 0.1024 | None | gnomAD-4.0.0 | 6.97117E-05 | |
7977 | 89 | H/Q | 175 | rs1340162231 | 0.5712 | None | gnomAD-4.0.0 | 1.37764E-06 | |
7977 | 89 | H/R | 175 | rs1357770681 | 0.5712 | None | gnomAD-4.0.0 | 2.06622E-06 | |
7977 | 89 | H/Y | 175 | None | 0.5712 | None | gnomAD-4.0.0 | 1.61498E-06 |