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I | M | I | T | S | M | L | K | D | I | N | A | E | E | K | D | T | I | T | F | E | V | T | V | N | Y | E | G | I | S | Y | K | W | L | K | N | G | V | E | I | K | S | T | D | K | C | Q | M | R | T | K | K | L | T | H | S | L | N | I | R | N | V | H | F | G | D | A | A | D | Y | T | F | V | A | G | K | A | T | S | T | A | T | L | Y | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | V | E |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
2969 | 1 | I/V | 1 | rs764394936 | 0.4790 | None | gnomAD-2.1.1 | 9.97E-05 | |
2969 | 1 | I/V | 1 | rs764394936 | 0.4790 | None | gnomAD-3.1.2 | 1.97E-05 | |
2969 | 1 | I/V | 1 | rs764394936 | 0.4790 | None | gnomAD-4.0.0 | 4.35647E-05 | |
2970 | 2 | M/I | 2 | None | 0.5858 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2970 | 2 | M/T | 2 | None | 0.5858 | None | gnomAD-4.0.0 | 1.59137E-06 | |
2972 | 4 | T/A | 4 | None | 0.4421 | None | gnomAD-4.0.0 | 2.05265E-06 | |
2972 | 4 | T/I | 4 | rs1244469362 | 0.4421 | None | gnomAD-4.0.0 | 2.05265E-06 | |
2972 | 4 | T/S | 4 | rs2091002766 | 0.4421 | None | gnomAD-3.1.2 | 6.57E-06 | |
2972 | 4 | T/S | 4 | rs2091002766 | 0.4421 | None | gnomAD-4.0.0 | 6.57056E-06 | |
2973 | 5 | S/F | 5 | rs1422918590 | 0.4170 | None | gnomAD-2.1.1 | 3.99E-06 | |
2973 | 5 | S/F | 5 | rs1422918590 | 0.4170 | None | gnomAD-4.0.0 | 6.36505E-06 | |
2974 | 6 | M/T | 7 | rs899464143 | 0.6693 | None | gnomAD-2.1.1 | 7.97E-06 | |
2974 | 6 | M/T | 7 | rs899464143 | 0.6693 | None | gnomAD-4.0.0 | 7.52596E-06 | |
2974 | 6 | M/V | 7 | rs993689796 | 0.6693 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2975 | 7 | L/M | 8 | rs1445649834 | 0.1797 | None | gnomAD-2.1.1 | 3.99E-06 | |
2977 | 9 | D/N | 11 | None | 0.5429 | None | gnomAD-4.0.0 | 1.59098E-06 | |
2979 | 11 | N/S | 14 | rs765890815 | 0.6155 | None | gnomAD-2.1.1 | 7.97E-06 | |
2979 | 11 | N/S | 14 | rs765890815 | 0.6155 | None | gnomAD-4.0.0 | 3.18176E-06 | |
2980 | 12 | A/T | 16 | rs72647885 | 0.1947 | None | gnomAD-2.1.1 | 5.06553E-04 | |
2980 | 12 | A/T | 16 | rs72647885 | 0.1947 | None | gnomAD-3.1.2 | 1.25668E-03 | |
2980 | 12 | A/T | 16 | rs72647885 | 0.1947 | None | 1000 genomes | 1.59744E-03 | |
2980 | 12 | A/T | 16 | rs72647885 | 0.1947 | None | gnomAD-4.0.0 | 2.78227E-04 | |
2981 | 13 | E/K | 18 | None | 0.5026 | None | gnomAD-4.0.0 | 6.84132E-07 | |
2982 | 14 | E/G | 23 | rs2090998936 | 0.3990 | None | gnomAD-4.0.0 | 2.40065E-06 | |
2983 | 15 | K/R | 24 | rs1387550627 | 0.6607 | None | gnomAD-3.1.2 | 6.57E-06 | |
2983 | 15 | K/R | 24 | rs1387550627 | 0.6607 | None | gnomAD-4.0.0 | 6.56909E-06 | |
2984 | 16 | D/N | 25 | rs2090998347 | 0.3597 | None | gnomAD-3.1.2 | 6.57E-06 | |
2984 | 16 | D/N | 25 | rs2090998347 | 0.3597 | None | gnomAD-4.0.0 | 3.09815E-06 | |
2984 | 16 | D/Y | 25 | rs2090998347 | 0.3597 | None | gnomAD-4.0.0 | 4.10473E-06 | |
2985 | 17 | T/S | 26 | rs727503684 | 0.3907 | None | gnomAD-2.1.1 | 3.98E-06 | |
2985 | 17 | T/S | 26 | rs727503684 | 0.3907 | None | gnomAD-3.1.2 | 6.57E-06 | |
2985 | 17 | T/S | 26 | rs727503684 | 0.3907 | None | gnomAD-4.0.0 | 2.03003E-06 | |
2986 | 18 | I/T | 28 | rs561206261 | 0.1426 | None | gnomAD-2.1.1 | 3.98E-06 | |
2986 | 18 | I/T | 28 | rs561206261 | 0.1426 | None | gnomAD-3.1.2 | 1.31E-05 | |
2986 | 18 | I/T | 28 | rs561206261 | 0.1426 | None | 1000 genomes | 1.99681E-04 | |
2986 | 18 | I/T | 28 | rs561206261 | 0.1426 | None | gnomAD-4.0.0 | 3.09773E-06 | |
2986 | 18 | I/V | 28 | None | 0.1426 | None | gnomAD-4.0.0 | 1.59074E-06 | |
2987 | 19 | T/A | 29 | None | 0.3182 | None | gnomAD-4.0.0 | 1.59072E-06 | |
2987 | 19 | T/I | 29 | rs1246906229 | 0.3182 | None | gnomAD-2.1.1 | 3.98E-06 | |
2987 | 19 | T/I | 29 | rs1246906229 | 0.3182 | None | gnomAD-3.1.2 | 1.31E-05 | |
2987 | 19 | T/I | 29 | rs1246906229 | 0.3182 | None | gnomAD-4.0.0 | 3.04492E-06 | |
2987 | 19 | T/S | 29 | rs1294263680 | 0.3182 | None | gnomAD-2.1.1 | 3.98E-06 | |
2987 | 19 | T/S | 29 | rs1294263680 | 0.3182 | None | gnomAD-4.0.0 | 4.77215E-06 | |
2988 | 20 | F/S | 30 | None | 0.1175 | None | gnomAD-4.0.0 | 2.05234E-06 | |
2989 | 21 | E/A | 31 | rs1383280638 | 0.5563 | None | gnomAD-2.1.1 | 3.98E-06 | |
2989 | 21 | E/A | 31 | rs1383280638 | 0.5563 | None | gnomAD-3.1.2 | 6.57E-06 | |
2989 | 21 | E/A | 31 | rs1383280638 | 0.5563 | None | gnomAD-4.0.0 | 2.56127E-06 | |
2989 | 21 | E/K | 31 | None | 0.5563 | None | gnomAD-4.0.0 | 6.84106E-07 | |
2990 | 22 | V/M | 33 | rs746946974 | 0.0937 | None | gnomAD-2.1.1 | 2.39E-05 | |
2990 | 22 | V/M | 33 | rs746946974 | 0.0937 | None | gnomAD-4.0.0 | 3.42052E-06 | |
2993 | 25 | N/S | 38 | rs772335542 | 0.2279 | None | gnomAD-2.1.1 | 3.98E-06 | |
2993 | 25 | N/S | 38 | rs772335542 | 0.2279 | None | gnomAD-4.0.0 | 6.84097E-06 | |
2994 | 26 | Y/C | 41 | None | 0.6967 | None | gnomAD-4.0.0 | 6.84093E-07 | |
2994 | 26 | Y/H | 41 | rs1288991244 | 0.6967 | None | gnomAD-2.1.1 | 3.98E-06 | |
2994 | 26 | Y/H | 41 | rs1288991244 | 0.6967 | None | gnomAD-4.0.0 | 4.77193E-06 | |
2994 | 26 | Y/N | 41 | None | 0.6967 | None | gnomAD-4.0.0 | 3.18129E-06 | |
2994 | 26 | Y/S | 41 | rs745929875 | 0.6967 | None | gnomAD-2.1.1 | 3.98E-06 | |
2994 | 26 | Y/S | 41 | rs745929875 | 0.6967 | None | gnomAD-4.0.0 | 2.05228E-06 | |
2995 | 27 | E/D | 42 | None | 0.5086 | None | gnomAD-4.0.0 | 6.84098E-07 | |
2996 | 28 | G/D | 43 | None | 0.6750 | None | gnomAD-2.1.1 | 3.98E-06 | |
2996 | 28 | G/D | 43 | None | 0.6750 | None | gnomAD-4.0.0 | 6.84097E-07 | |
2996 | 28 | G/S | 43 | None | 0.6750 | None | gnomAD-4.0.0 | 1.20032E-06 | |
2996 | 28 | G/V | 43 | rs779053650 | 0.6750 | None | gnomAD-3.1.2 | 6.57E-06 | |
2996 | 28 | G/V | 43 | rs779053650 | 0.6750 | None | gnomAD-4.0.0 | 3.09801E-06 | |
2997 | 29 | I/F | 44 | rs879242806 | 0.2274 | None | gnomAD-3.1.2 | 6.57E-06 | |
2997 | 29 | I/F | 44 | rs879242806 | 0.2274 | None | gnomAD-4.0.0 | 1.23915E-06 | |
2997 | 29 | I/M | 44 | None | 0.2274 | None | gnomAD-4.0.0 | 6.84095E-07 | |
2997 | 29 | I/V | 44 | None | 0.2274 | None | gnomAD-4.0.0 | 9.57734E-06 | |
2998 | 30 | S/T | 45 | rs374490159 | 0.8380 | None | gnomAD-2.1.1 | 3.98E-06 | |
2998 | 30 | S/T | 45 | rs374490159 | 0.8380 | None | gnomAD-3.1.2 | 6.57E-06 | |
2998 | 30 | S/T | 45 | rs374490159 | 0.8380 | None | gnomAD-4.0.0 | 1.85877E-06 | |
2998 | 30 | S/Y | 45 | None | 0.8380 | None | gnomAD-4.0.0 | 1.59066E-06 | |
2999 | 31 | Y/C | 46 | None | 0.2494 | None | gnomAD-4.0.0 | 1.59063E-06 | |
3000 | 32 | K/R | 47 | None | 0.3206 | None | gnomAD-4.0.0 | 1.59063E-06 | |
3002 | 34 | L/F | 49 | rs1390008829 | 0.1799 | None | gnomAD-2.1.1 | 3.98E-06 | |
3002 | 34 | L/F | 49 | rs1390008829 | 0.1799 | None | gnomAD-4.0.0 | 1.59063E-06 | |
3003 | 35 | K/Q | 50 | None | 0.1865 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3005 | 37 | G/A | 52 | None | 0.3844 | None | gnomAD-4.0.0 | 6.84091E-07 | |
3005 | 37 | G/D | 52 | rs2090986560 | 0.3844 | None | gnomAD-4.0.0 | 4.78864E-06 | |
3006 | 38 | V/M | 55 | rs778118930 | 0.6529 | None | gnomAD-2.1.1 | 1.59E-05 | |
3006 | 38 | V/M | 55 | rs778118930 | 0.6529 | None | gnomAD-4.0.0 | 6.84091E-06 | |
3008 | 40 | I/V | 58 | rs756415356 | 0.2214 | None | gnomAD-2.1.1 | 3.98E-06 | |
3008 | 40 | I/V | 58 | rs756415356 | 0.2214 | None | gnomAD-4.0.0 | 1.59061E-06 | |
3010 | 42 | S/P | 70 | None | 0.3978 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3011 | 43 | T/I | 73 | rs753265092 | 0.3949 | None | gnomAD-2.1.1 | 7.96E-06 | |
3011 | 43 | T/I | 73 | rs753265092 | 0.3949 | None | gnomAD-4.0.0 | 3.18122E-06 | |
3012 | 44 | D/G | 111 | rs2090980591 | 0.9736 | None | gnomAD-3.1.2 | 1.31E-05 | |
3012 | 44 | D/G | 111 | rs2090980591 | 0.9736 | None | gnomAD-4.0.0 | 2.47834E-06 | |
3012 | 44 | D/N | 111 | None | 0.9736 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3013 | 45 | K/N | 115 | None | 0.2471 | None | gnomAD-4.0.0 | 6.84088E-07 | |
3016 | 48 | M/K | 123 | rs1223583950 | 0.2265 | None | gnomAD-3.1.2 | 6.57E-06 | |
3016 | 48 | M/K | 123 | rs1223583950 | 0.2265 | None | gnomAD-4.0.0 | 6.57237E-06 | |
3016 | 48 | M/R | 123 | rs1223583950 | 0.2265 | None | gnomAD-2.1.1 | 3.98E-06 | |
3016 | 48 | M/R | 123 | rs1223583950 | 0.2265 | None | gnomAD-4.0.0 | 1.59059E-06 | |
3017 | 49 | R/I | 125 | rs372303620 | 0.5852 | None | gnomAD-4.0.0 | 1.36817E-06 | |
3017 | 49 | R/K | 125 | rs372303620 | 0.5852 | None | gnomAD-2.1.1 | 1.77E-05 | |
3017 | 49 | R/K | 125 | rs372303620 | 0.5852 | None | gnomAD-3.1.2 | 3.29E-05 | |
3017 | 49 | R/K | 125 | rs372303620 | 0.5852 | None | gnomAD-4.0.0 | 8.05506E-06 | |
3018 | 50 | T/I | 127 | rs761555504 | 0.3882 | None | gnomAD-2.1.1 | 3.98E-06 | |
3018 | 50 | T/I | 127 | rs761555504 | 0.3882 | None | gnomAD-4.0.0 | 3.18116E-06 | |
3018 | 50 | T/N | 127 | rs761555504 | 0.3882 | None | gnomAD-2.1.1 | 7.96E-06 | |
3018 | 50 | T/N | 127 | rs761555504 | 0.3882 | None | gnomAD-4.0.0 | 3.18117E-06 | |
3019 | 51 | K/R | 130 | None | 0.8745 | None | gnomAD-4.0.0 | 1.59058E-06 | |
3020 | 52 | K/N | 131 | rs2090976989 | 0.7555 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3021 | 53 | L/F | 134 | None | 0.3036 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3022 | 54 | T/I | 135 | None | 0.2587 | None | gnomAD-4.0.0 | 1.36817E-06 | |
3022 | 54 | T/P | 135 | None | 0.2587 | None | gnomAD-4.0.0 | 3.60396E-06 | |
3023 | 55 | H/R | 136 | None | 0.1227 | None | gnomAD-4.0.0 | 1.59059E-06 | |
3023 | 55 | H/Y | 136 | rs763992518 | 0.1227 | None | gnomAD-2.1.1 | 2.83E-05 | |
3023 | 55 | H/Y | 136 | rs763992518 | 0.1227 | None | gnomAD-4.0.0 | 1.43153E-05 | |
3025 | 57 | L/V | 138 | rs142410663 | 0.0918 | None | gnomAD-2.1.1 | 7.96E-06 | |
3025 | 57 | L/V | 138 | rs142410663 | 0.0918 | None | gnomAD-4.0.0 | 3.1812E-06 | |
3026 | 58 | N/I | 139 | rs11900987 | 0.2317 | None | gnomAD-2.1.1 | 5.87166E-04 | |
3026 | 58 | N/I | 139 | rs11900987 | 0.2317 | None | gnomAD-3.1.2 | 1.82638E-03 | |
3026 | 58 | N/I | 139 | rs11900987 | 0.2317 | None | 1000 genomes | 1.59744E-03 | |
3026 | 58 | N/I | 139 | rs11900987 | 0.2317 | None | gnomAD-4.0.0 | 4.50396E-04 | |
3029 | 61 | N/T | 143 | rs528892388 | 0.5390 | None | gnomAD-2.1.1 | 3.98E-06 | |
3029 | 61 | N/T | 143 | rs528892388 | 0.5390 | None | gnomAD-4.0.0 | 2.73634E-06 | |
3030 | 62 | V/I | 144 | rs895908518 | 0.1134 | None | gnomAD-2.1.1 | 3.98E-06 | |
3030 | 62 | V/I | 144 | rs895908518 | 0.1134 | None | gnomAD-3.1.2 | 6.57E-06 | |
3030 | 62 | V/I | 144 | rs895908518 | 0.1134 | None | gnomAD-4.0.0 | 2.47831E-06 | |
3031 | 63 | H/L | 145 | None | 0.3357 | None | gnomAD-4.0.0 | 1.5906E-06 | |
3033 | 65 | G/E | 148 | rs772024586 | 0.3373 | None | gnomAD-2.1.1 | 3.98E-06 | |
3033 | 65 | G/E | 148 | rs772024586 | 0.3373 | None | gnomAD-4.0.0 | 1.59062E-06 | |
3034 | 66 | D/V | 149 | None | 0.1473 | None | gnomAD-4.0.0 | 3.18129E-06 | |
3035 | 67 | A/G | 151 | None | 0.3247 | None | gnomAD-4.0.0 | 6.84092E-07 | |
3035 | 67 | A/T | 151 | rs745745046 | 0.3247 | None | gnomAD-2.1.1 | 7.96E-06 | |
3035 | 67 | A/T | 151 | rs745745046 | 0.3247 | None | gnomAD-4.0.0 | 1.59061E-06 | |
3035 | 67 | A/V | 151 | None | 0.3247 | None | gnomAD-4.0.0 | 2.05228E-06 | |
3039 | 71 | T/I | 155 | rs774523194 | 0.1823 | None | gnomAD-2.1.1 | 1.99E-05 | |
3039 | 71 | T/I | 155 | rs774523194 | 0.1823 | None | gnomAD-3.1.2 | 3.29E-05 | |
3039 | 71 | T/I | 155 | rs774523194 | 0.1823 | None | gnomAD-4.0.0 | 1.28069E-05 | |
3039 | 71 | T/N | 155 | None | 0.1823 | None | gnomAD-2.1.1 | 3.98E-06 | |
3039 | 71 | T/S | 155 | rs774523194 | 0.1823 | None | gnomAD-2.1.1 | 3.98E-06 | |
3039 | 71 | T/S | 155 | rs774523194 | 0.1823 | None | gnomAD-4.0.0 | 1.59066E-06 | |
3041 | 73 | V/A | 157 | None | 0.2293 | None | gnomAD-2.1.1 | 1.59E-05 | |
3041 | 73 | V/A | 157 | None | 0.2293 | None | gnomAD-4.0.0 | 1.27253E-05 | |
3041 | 73 | V/L | 157 | None | 0.2293 | None | gnomAD-4.0.0 | 1.59064E-06 | |
3042 | 74 | A/D | 158 | None | 0.1471 | None | gnomAD-4.0.0 | 6.84096E-07 | |
3042 | 74 | A/S | 158 | rs756542210 | 0.1471 | None | gnomAD-2.1.1 | 3.18E-05 | |
3042 | 74 | A/S | 158 | rs756542210 | 0.1471 | None | gnomAD-3.1.2 | 6.57E-06 | |
3042 | 74 | A/S | 158 | rs756542210 | 0.1471 | None | gnomAD-4.0.0 | 1.2391E-05 | |
3042 | 74 | A/T | 158 | None | 0.1471 | None | gnomAD-4.0.0 | 1.36819E-06 | |
3042 | 74 | A/V | 158 | None | 0.1471 | None | gnomAD-4.0.0 | 6.84096E-07 | |
3045 | 77 | A/S | 166 | None | 0.2064 | None | gnomAD-4.0.0 | 6.84156E-07 | |
3045 | 77 | A/T | 166 | rs755527049 | 0.2064 | None | gnomAD-2.1.1 | 7.98E-06 | |
3045 | 77 | A/T | 166 | rs755527049 | 0.2064 | None | gnomAD-3.1.2 | 6.57E-06 | |
3045 | 77 | A/T | 166 | rs755527049 | 0.2064 | None | gnomAD-4.0.0 | 4.95734E-06 | |
3047 | 79 | S/T | 169 | rs946142615 | 0.1672 | None | gnomAD-2.1.1 | 3.99E-06 | |
3047 | 79 | S/T | 169 | rs946142615 | 0.1672 | None | gnomAD-4.0.0 | 8.20963E-06 | |
3048 | 80 | T/A | 171 | rs74773630 | 0.3786 | None | gnomAD-3.1.2 | 6.57E-06 | |
3048 | 80 | T/A | 171 | rs74773630 | 0.3786 | None | gnomAD-4.0.0 | 3.84454E-06 | |
3048 | 80 | T/P | 171 | rs74773630 | 0.3786 | None | gnomAD-4.0.0 | 4.68102E-04 | |
3049 | 81 | A/G | 172 | None | 0.1018 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3051 | 83 | L/V | 174 | None | 0.1131 | None | gnomAD-4.0.0 | 1.59075E-06 | |
3052 | 84 | Y/H | 175 | rs763833161 | 0.5297 | None | gnomAD-2.1.1 | 3.58E-05 | |
3052 | 84 | Y/H | 175 | rs763833161 | 0.5297 | None | gnomAD-4.0.0 | 1.64183E-05 | |
3054 | 86 | E/K | 177 | rs397517779 | 0.4290 | None | gnomAD-2.1.1 | 3.98E-06 | |
3054 | 86 | E/K | 177 | rs397517779 | 0.4290 | None | gnomAD-4.0.0 | 4.77204E-06 | |
3054 | 86 | E/Q | 177 | None | 0.4290 | None | gnomAD-4.0.0 | 3.18136E-06 |