Variation Browser
DownloadReceptor | Position | GPCRdb | Segment | Variant | Mutation type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Receptor | Position | GPCRdb | Segment | Variant | Mutation Type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
pe2r3_human | 374 | C-term | L => LysfsTer48 | frameshift | 8.25e-06 | 1 | 121206 | 0 | None | None | ||
pe2r3_human | 389 | C-term | E => ValfsTer20 | frameshift | 8.243e-06 | 1 | 121308 | 0 | None | None | ||
pe2r3_human | 388 | C-term | L => SerfsTer21 | frameshift | 2.473e-05 | 3 | 121330 | 0 | None | None | ||
pe2r3_human | 380 | C-term | S => Ter | stop gained | 0.0005098 | 5 | 9808 | 0 | None | None | ||
pe2r3_human | 7 | N-term | Y => Ter | stop gained | 4.236e-05 | 1 | 23606 | 0 | None | None | PTM (Phosphorylation) | |
pe2r3_human | 389 | C-term | E => V | missense | 8.305e-06 | 1 | 120414 | 0 | nan | 0.025 | ||
pe2r3_human | 387 | C-term | H => L | missense | 4.144e-05 | 5 | 120654 | 0 | nan | 0.0 | ||
pe2r3_human | 386 | C-term | D => N | missense | 1.657e-05 | 2 | 120698 | 0 | nan | 0.003 | ||
pe2r3_human | 381 | C-term | T => I | missense | 8.271e-06 | 1 | 120910 | 0 | nan | 0.031 | ||
pe2r3_human | 380 | C-term | S => L | missense | 8.271e-06 | 1 | 120908 | 0 | nan | 0.916 | ||
pe2r3_human | 380 | C-term | S => A | missense | 8.27e-06 | 1 | 120926 | 0 | nan | 0.746 | ||
pe2r3_human | 378 | C-term | C => R | missense | 8.27e-06 | 1 | 120920 | 0 | nan | 0.058 | ||
pe2r3_human | 375 | C-term | P => L | missense | 0.001406 | 170 | 120912 | 2 | nan | 0.987 | ||
pe2r3_human | 375 | C-term | P => H | missense | 8.27e-06 | 1 | 120912 | 0 | nan | 0.994 | ||
pe2r3_human | 371 | C-term | S => F | missense | 1.655e-05 | 2 | 120882 | 0 | 0.0 | 0.974 | ||
pe2r3_human | 369 | 8.66x66 | H8 | S => F | missense | 8.273e-06 | 1 | 120868 | 0 | 0.04 | 0.974 | |
pe2r3_human | 366 | 8.63x63 | H8 | N => S | missense | 0.004826 | 583 | 120806 | 9 | 0.59 | 0.001 | |
pe2r3_human | 365 | 8.62x62 | H8 | N => S | missense | 1.656e-05 | 2 | 120786 | 0 | 1.0 | 0.001 | |
pe2r3_human | 355 | 8.52x52 | H8 | R => Q | missense | 8.244e-06 | 1 | 121306 | 0 | 0.12 | 0.132 | |
pe2r3_human | 320 | 7.27x26 | TM7 | E => K | missense | 8.249e-06 | 1 | 121220 | 0 | 0.26 | 0.41 | |
pe2r3_human | 319 | 7.26x25 | TM7 | T => M | missense | 0.0003382 | 41 | 121218 | 0 | 0.1 | 0.046 | |
pe2r3_human | 319 | 7.26x25 | TM7 | T => K | missense | 8.25e-06 | 1 | 121218 | 0 | 0.52 | 0.069 | |
pe2r3_human | 314 | ECL3 | H => P | missense | 8.253e-06 | 1 | 121168 | 0 | 0.05 | 0.811 | ||
pe2r3_human | 310 | 6.63x63 | TM6 | T => I | missense | 1.652e-05 | 2 | 121082 | 0 | 0.04 | 0.14 | |
pe2r3_human | 310 | 6.63x63 | TM6 | T => A | missense | 1.652e-05 | 2 | 121068 | 0 | 0.1 | 0.403 | |
pe2r3_human | 301 | 6.54x54 | TM6 | M => K | missense | 3.343e-05 | 4 | 119662 | 0 | 0.03 | 0.572 | |
pe2r3_human | 293 | 6.46x46 | TM6 | V => I | missense | 9.09e-06 | 1 | 110012 | 0 | 1.0 | 0.123 | |
pe2r3_human | 290 | 6.43x43 | TM6 | V => M | missense | 8.96e-06 | 1 | 111606 | 0 | 0.0 | 0.999 | |
pe2r3_human | 286 | 6.39x39 | TM6 | G => A | missense | 3.517e-05 | 4 | 113726 | 0 | 0.0 | 1.0 | |
pe2r3_human | 285 | 6.38x38 | TM6 | M => I | missense | 8.757e-06 | 1 | 114196 | 0 | 0.03 | 0.403 | |
pe2r3_human | 283 | 6.36x36 | TM6 | Q => H | missense | 8.683e-06 | 1 | 115174 | 0 | 0.0 | 1.0 | GP (contact) |
pe2r3_human | 280 | 6.33x33 | TM6 | T => M | missense | 8.549e-06 | 1 | 116966 | 0 | 0.6 | 1.0 | GP (contact) |
pe2r3_human | 279 | 6.32x32 | TM6 | E => K | missense | 8.506e-06 | 1 | 117564 | 0 | 0.0 | 1.0 | GP (contact) |
pe2r3_human | 274 | 6.27x27 | TM6 | G => S | missense | 8.369e-06 | 1 | 119492 | 0 | 0.33 | 0.973 | |
pe2r3_human | 270 | 6.23x23 | TM6 | S => R | missense | 1.665e-05 | 2 | 120152 | 0 | 0.17 | 0.158 | |
pe2r3_human | 269 | 6.22x22 | TM6 | S => T | missense | 8.316e-06 | 1 | 120250 | 0 | 0.09 | 0.84 | |
pe2r3_human | 264 | 5.73x73 | TM5 | A => T | missense | 8.294e-06 | 1 | 120568 | 0 | 0.28 | 0.145 | |
pe2r3_human | 262 | 5.71x71 | TM5 | A => T | missense | 3.316e-05 | 4 | 120626 | 0 | 0.57 | 0.241 | GP (contact) |
pe2r3_human | 255 | 5.64x64 | TM5 | A => T | missense | 8.275e-06 | 1 | 120844 | 0 | 0.28 | 0.995 | GP (contact) |
pe2r3_human | 239 | 5.48x48 | TM5 | L => F | missense | 1.66e-05 | 2 | 120514 | 0 | 0.0 | 0.995 | |
pe2r3_human | 236 | 5.45x45 | TM5 | F => L | missense | 8.319e-06 | 1 | 120212 | 0 | 0.77 | 0.152 | |
pe2r3_human | 235 | 5.44x44 | TM5 | A => V | missense | 2.498e-05 | 3 | 120090 | 0 | 0.0 | 0.986 | |
pe2r3_human | 233 | 5.42x42 | TM5 | A => T | missense | 8.358e-06 | 1 | 119646 | 0 | 0.46 | 0.016 | |
pe2r3_human | 231 | 5.40x40 | TM5 | A => V | missense | 8.375e-06 | 1 | 119408 | 0 | 0.3 | 0.995 | |
pe2r3_human | 231 | 5.40x40 | TM5 | A => T | missense | 8.38e-06 | 1 | 119326 | 0 | 0.06 | 0.986 | |
pe2r3_human | 228 | 5.37x37 | TM5 | L => F | missense | 2.523e-05 | 3 | 118904 | 0 | 0.02 | 0.689 | |
pe2r3_human | 226 | 5.35x35 | TM5 | G => C | missense | 8.445e-06 | 1 | 118420 | 0 | 0.02 | 0.998 | |
pe2r3_human | 226 | 5.35x35 | TM5 | G => S | missense | 1.689e-05 | 2 | 118420 | 0 | 0.14 | 0.973 | |
pe2r3_human | 224 | ECL2 | N => Y | missense | 8.46e-06 | 1 | 118208 | 0 | 0.02 | 0.56 | ||
pe2r3_human | 218 | ECL2 | G => V | missense | 8.534e-06 | 1 | 117184 | 0 | 0.02 | 0.752 | ||
pe2r3_human | 218 | ECL2 | G => R | missense | 8.537e-06 | 1 | 117132 | 0 | 0.01 | 0.842 | ||
pe2r3_human | 216 | ECL2 | G => S | missense | 8.574e-06 | 1 | 116630 | 0 | 0.13 | 0.861 | ||
pe2r3_human | 215 | ECL2 | G => R | missense | 8.586e-06 | 1 | 116466 | 0 | 0.12 | 0.984 | ||
pe2r3_human | 213 | ECL2 | G => W | missense | 1.727e-05 | 2 | 115792 | 0 | 0.01 | 0.996 | ||
pe2r3_human | 200 | ECL2 | T => A | missense | 2.582e-05 | 3 | 116200 | 0 | 0.13 | 0.12 | ||
pe2r3_human | 198 | ECL2 | Q => H | missense | 2.586e-05 | 3 | 116018 | 0 | 0.15 | 0.033 | ||
pe2r3_human | 196 | ECL2 | V => M | missense | 8.659e-06 | 1 | 115492 | 0 | 0.01 | 0.995 | ||
pe2r3_human | 182 | 4.50x50 | TM4 | W => C | missense | 9.017e-06 | 1 | 110906 | 0 | 0.02 | 0.998 | |
pe2r3_human | 181 | 4.49x49 | TM4 | V => L | missense | 4.545e-05 | 5 | 110020 | 0 | 0.12 | 0.906 | |
pe2r3_human | 181 | 4.49x49 | TM4 | V => M | missense | 2.727e-05 | 3 | 110020 | 0 | 0.01 | 0.903 | |
pe2r3_human | 179 | 4.47x47 | TM4 | L => F | missense | 9.264e-06 | 1 | 107944 | 0 | 0.17 | 0.16 | |
pe2r3_human | 176 | 4.44x44 | TM4 | A => G | missense | 9.513e-06 | 1 | 105120 | 0 | 0.21 | 0.314 | |
pe2r3_human | 175 | 4.43x43 | TM4 | R => L | missense | 7.748e-05 | 8 | 103252 | 0 | 0.0 | 0.804 | |
pe2r3_human | 173 | 4.41x41 | TM4 | A => T | missense | 1.006e-05 | 1 | 99406 | 0 | 0.4 | 0.507 | |
pe2r3_human | 172 | 4.40x40 | TM4 | R => L | missense | 1.006e-05 | 1 | 99374 | 0 | 0.04 | 0.899 | |
pe2r3_human | 172 | 4.40x40 | TM4 | R => G | missense | 1.018e-05 | 1 | 98216 | 0 | 0.05 | 0.191 | |
pe2r3_human | 169 | 34.57x57 | ICL2 | M => L | missense | 6.482e-05 | 6 | 92570 | 0 | 0.14 | 0.044 | GP (contact) |
pe2r3_human | 169 | 34.57x57 | ICL2 | M => V | missense | 1.08e-05 | 1 | 92570 | 0 | 0.48 | 0.129 | GP (contact) |
pe2r3_human | 167 | 34.55x55 | ICL2 | S => C | missense | 1.124e-05 | 1 | 88998 | 0 | 0.02 | 0.289 | GP (contact) |
pe2r3_human | 164 | 34.52x52 | ICL2 | W => R | missense | 1.217e-05 | 1 | 82178 | 0 | 0.0 | 0.998 | GP (contact) |
pe2r3_human | 163 | 34.51x51 | ICL2 | H => Q | missense | 1.224e-05 | 1 | 81666 | 0 | 0.03 | 1.0 | GP (contact) |
pe2r3_human | 151 | 3.46x46 | TM3 | M => V | missense | 1.498e-05 | 1 | 66762 | 0 | 0.0 | 0.998 | |
pe2r3_human | 147 | 3.42x42 | TM3 | I => T | missense | 1.537e-05 | 1 | 65066 | 0 | 0.0 | 0.752 | |
pe2r3_human | 147 | 3.42x42 | TM3 | I => L | missense | 4.599e-05 | 3 | 65236 | 0 | 1.0 | 0.047 | |
pe2r3_human | 144 | 3.39x39 | TM3 | S => P | missense | 1.557e-05 | 1 | 64216 | 0 | 1.0 | 0.05 | |
pe2r3_human | 125 | ECL1 | P => S | missense | 1.697e-05 | 1 | 58926 | 0 | 0.16 | 0.189 | ||
pe2r3_human | 123 | ECL1 | I => V | missense | 1.698e-05 | 1 | 58898 | 0 | 0.45 | 0.006 | ||
pe2r3_human | 119 | 23.49x49 | ECL1 | R => P | missense | 1.718e-05 | 1 | 58218 | 0 | 0.26 | 0.026 | |
pe2r3_human | 119 | 23.49x49 | ECL1 | R => C | missense | 1.718e-05 | 1 | 58222 | 0 | 0.03 | 0.892 | |
pe2r3_human | 118 | ECL1 | Q => E | missense | 1.722e-05 | 1 | 58084 | 0 | 0.66 | 0.309 | ||
pe2r3_human | 113 | 2.64x64 | TM2 | V => A | missense | 1.756e-05 | 1 | 56952 | 0 | 0.01 | 0.927 | |
pe2r3_human | 112 | 2.63x63 | TM2 | V => F | missense | 0.000158 | 9 | 56972 | 0 | 0.71 | 0.041 | |
pe2r3_human | 94 | 2.45x45 | TM2 | W => C | missense | 1.535e-05 | 1 | 65154 | 0 | 0.08 | 0.033 | |
pe2r3_human | 94 | 2.45x45 | TM2 | W => G | missense | 0.000363 | 24 | 66122 | 0 | 0.3 | 0.013 | |
pe2r3_human | 92 | 2.43x43 | TM2 | I => V | missense | 1.461e-05 | 1 | 68434 | 0 | 0.21 | 0.951 | |
pe2r3_human | 85 | 2.36x36 | TM2 | K => R | missense | 8.195e-05 | 6 | 73212 | 0 | 0.01 | 0.521 | |
pe2r3_human | 83 | ICL1 | K => N | missense | 1.34e-05 | 1 | 74616 | 0 | 0.0 | 0.827 | ||
pe2r3_human | 83 | ICL1 | K => T | missense | 0.0001065 | 8 | 75090 | 0 | 0.02 | 0.259 | ||
pe2r3_human | 82 | ICL1 | S => T | missense | 1.316e-05 | 1 | 75974 | 0 | 0.05 | 0.752 | ||
pe2r3_human | 82 | ICL1 | S => C | missense | 1.305e-05 | 1 | 76600 | 0 | 0.01 | 0.967 | ||
pe2r3_human | 81 | ICL1 | E => V | missense | 1.295e-05 | 1 | 77248 | 0 | 0.0 | 0.997 | ||
pe2r3_human | 81 | ICL1 | E => Q | missense | 1.29e-05 | 1 | 77530 | 0 | 0.02 | 0.994 | ||
pe2r3_human | 80 | ICL1 | R => Q | missense | 1.279e-05 | 1 | 78166 | 0 | 0.34 | 0.888 | ||
pe2r3_human | 70 | 1.54x54 | TM1 | M => V | missense | 2.167e-05 | 2 | 92280 | 0 | 0.0 | 0.378 | |
pe2r3_human | 53 | 1.37x37 | TM1 | A => V | missense | 2.013e-05 | 2 | 99346 | 0 | 0.25 | 0.018 | |
pe2r3_human | 45 | N-term | E => K | missense | 1.057e-05 | 1 | 94600 | 0 | 0.19 | 0.294 | ||
pe2r3_human | 44 | N-term | G => A | missense | 1.065e-05 | 1 | 93890 | 0 | 0.37 | 0.003 | ||
pe2r3_human | 42 | N-term | G => R | missense | 0.0004063 | 37 | 91060 | 0 | 0.25 | 0.013 | ||
pe2r3_human | 39 | N-term | R => S | missense | 1.145e-05 | 1 | 87350 | 0 | 0.4 | 0.011 | ||
pe2r3_human | 38 | N-term | T => K | missense | 1.145e-05 | 1 | 87356 | 0 | 0.01 | 0.693 | ||
pe2r3_human | 34 | N-term | R => P | missense | 3.734e-05 | 3 | 80334 | 0 | 0.17 | 0.024 | ||
pe2r3_human | 33 | N-term | A => E | missense | 0.0001375 | 11 | 79974 | 0 | 0.22 | 0.021 | ||
pe2r3_human | 28 | N-term | E => Q | missense | 4.231e-05 | 3 | 70910 | 0 | 0.06 | 0.104 | ||
pe2r3_human | 28 | N-term | E => K | missense | 1.41e-05 | 1 | 70910 | 0 | 0.09 | 0.216 | ||
pe2r3_human | 24 | N-term | M => V | missense | 1.513e-05 | 1 | 66074 | 0 | nan | 0.02 | ||
pe2r3_human | 19 | N-term | H => Y | missense | 1.909e-05 | 1 | 52388 | 0 | 0.04 | 0.111 | ||
pe2r3_human | 17 | N-term | L => F | missense | 2.019e-05 | 1 | 49526 | 0 | 0.05 | 0.031 | ||
pe2r3_human | 16 | N-term | R => H | missense | 6.224e-05 | 3 | 48202 | 0 | 0.04 | 0.03 | ||
pe2r3_human | 16 | N-term | R => S | missense | 2.19e-05 | 1 | 45672 | 0 | 0.07 | 0.507 | ||
pe2r3_human | 14 | N-term | C => R | missense | 0.0001292 | 5 | 38690 | 0 | nan | 0.979 | ||
pe2r3_human | 8 | N-term | G => E | missense | 3.792e-05 | 1 | 26374 | 0 | 0.05 | 0.466 | ||
pe2r3_human | 5 | N-term | R => Q | missense | 4.805e-05 | 1 | 20812 | 0 | nan | 0.968 |
Residue
- deleterious missense variants are shown in red
- tolerated missense variants are shown in green
- loss of function mutations ('stop gained' or 'frameshift' in the coding region) are shown in blue