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 |
pe2r4_human | 305 | ECL3 | E => Ter | stop gained | 8.252e-06 | 1 | 121190 | 0 | None | None | ||
pe2r4_human | 8 | N-term | S => L | missense | 8.621e-06 | 1 | 115996 | 0 | 0.14 | 0.002 | ||
pe2r4_human | 10 | N-term | A => V | missense | 1.705e-05 | 2 | 117318 | 0 | 0.19 | 0.013 | ||
pe2r4_human | 11 | N-term | S => F | missense | 8.485e-05 | 10 | 117850 | 0 | 0.02 | 0.035 | ||
pe2r4_human | 13 | N-term | S => G | missense | 8.439e-06 | 1 | 118500 | 0 | 0.44 | 0.001 | ||
pe2r4_human | 14 | N-term | P => A | missense | 8.425e-06 | 1 | 118690 | 0 | 0.18 | 0.001 | ||
pe2r4_human | 15 | N-term | D => H | missense | 8.404e-06 | 1 | 118996 | 0 | 0.12 | 0.002 | ||
pe2r4_human | 26 | 1.41x41 | TM1 | V => L | missense | 8.317e-06 | 1 | 120238 | 0 | 0.22 | 0.004 | |
pe2r4_human | 29 | 1.44x44 | TM1 | I => V | missense | 8.302e-06 | 1 | 120446 | 0 | 0.2 | 0.04 | |
pe2r4_human | 29 | 1.44x44 | TM1 | I => L | missense | 8.302e-06 | 1 | 120446 | 0 | 0.07 | 0.008 | |
pe2r4_human | 32 | 1.47x47 | TM1 | V => A | missense | 8.295e-06 | 1 | 120558 | 0 | 0.09 | 0.573 | |
pe2r4_human | 39 | 1.54x54 | TM1 | I => M | missense | 8.272e-06 | 1 | 120886 | 0 | 0.0 | 0.987 | |
pe2r4_human | 74 | 2.59x59 | TM2 | P => S | missense | 8.254e-06 | 1 | 121148 | 0 | 0.0 | 0.88 | |
pe2r4_human | 79 | 2.64x64 | TM2 | T => R | missense | 8.258e-06 | 1 | 121094 | 0 | 0.0 | 0.038 | |
pe2r4_human | 81 | 2.66x66 | TM2 | M => L | missense | 8.259e-06 | 1 | 121078 | 0 | 0.6 | 0.001 | |
pe2r4_human | 96 | 3.29x29 | TM3 | T => S | missense | 8.253e-06 | 1 | 121166 | 0 | 1.0 | 0.01 | |
pe2r4_human | 101 | 3.34x34 | TM3 | F => L | missense | 8.253e-06 | 1 | 121172 | 0 | 0.0 | 0.74 | |
pe2r4_human | 109 | 3.42x42 | TM3 | I => F | missense | 1.651e-05 | 2 | 121168 | 0 | 0.03 | 0.809 | |
pe2r4_human | 112 | 3.45x45 | TM3 | A => T | missense | 8.254e-06 | 1 | 121160 | 0 | 0.07 | 0.753 | |
pe2r4_human | 126 | 34.52x52 | ICL2 | F => L | missense | 1.652e-05 | 2 | 121070 | 0 | 0.09 | 0.062 | GP (contact) |
pe2r4_human | 129 | 34.55x55 | ICL2 | H => Q | missense | 3.303e-05 | 4 | 121090 | 0 | 0.59 | 0.009 | GP (contact) |
pe2r4_human | 135 | 4.41x41 | TM4 | L => W | missense | 1.653e-05 | 2 | 120994 | 0 | 0.01 | 0.222 | |
pe2r4_human | 143 | 4.49x49 | TM4 | V => A | missense | 1.655e-05 | 2 | 120840 | 0 | 0.03 | 0.217 | |
pe2r4_human | 144 | 4.50x50 | TM4 | Y => C | missense | 1.655e-05 | 2 | 120810 | 0 | 0.0 | 0.766 | |
pe2r4_human | 147 | 4.53x53 | TM4 | N => S | missense | 2.484e-05 | 3 | 120758 | 0 | 0.02 | 0.137 | |
pe2r4_human | 149 | 4.55x55 | TM4 | L => I | missense | 8.285e-06 | 1 | 120696 | 0 | 0.06 | 0.021 | |
pe2r4_human | 156 | 4.62x62 | TM4 | M => L | missense | 8.3e-06 | 1 | 120484 | 0 | 0.27 | 0.028 | |
pe2r4_human | 156 | 4.62x62 | TM4 | M => V | missense | 8.3e-06 | 1 | 120484 | 0 | 0.14 | 0.173 | |
pe2r4_human | 180 | 5.35x35 | TM5 | A => T | missense | 8.39e-06 | 1 | 119190 | 0 | 1.0 | 0.004 | |
pe2r4_human | 180 | 5.35x35 | TM5 | A => E | missense | 8.393e-06 | 1 | 119150 | 0 | 0.17 | 0.125 | |
pe2r4_human | 186 | 5.41x41 | TM5 | Y => C | missense | 8.433e-06 | 1 | 118582 | 0 | 0.0 | 0.984 | |
pe2r4_human | 187 | 5.42x42 | TM5 | M => T | missense | 1.689e-05 | 2 | 118446 | 0 | 0.13 | 0.115 | |
pe2r4_human | 193 | 5.48x48 | TM5 | S => C | missense | 2.567e-05 | 3 | 116878 | 0 | 0.04 | 0.976 | |
pe2r4_human | 194 | 5.49x49 | TM5 | F => L | missense | 8.584e-06 | 1 | 116496 | 0 | 1.0 | 0.01 | |
pe2r4_human | 196 | 5.51x51 | TM5 | I => V | missense | 8.642e-06 | 1 | 115720 | 0 | 0.27 | 0.326 | |
pe2r4_human | 199 | 5.54x54 | TM5 | T => S | missense | 8.782e-06 | 1 | 113874 | 0 | 0.0 | 0.857 | |
pe2r4_human | 205 | 5.60x60 | TM5 | L => R | missense | 9.311e-06 | 1 | 107404 | 0 | 0.01 | 0.309 | |
pe2r4_human | 208 | 5.63x63 | TM5 | G => A | missense | 9.759e-06 | 1 | 102468 | 0 | 0.64 | 0.009 | |
pe2r4_human | 212 | 5.67x67 | TM5 | R => H | missense | 5.357e-05 | 5 | 93340 | 0 | 0.02 | 0.435 | GP (contact) |
pe2r4_human | 215 | 5.70x70 | TM5 | R => C | missense | 1.117e-05 | 1 | 89548 | 0 | 0.0 | 0.973 | |
pe2r4_human | 216 | 5.71x71 | TM5 | Q => R | missense | 1.154e-05 | 1 | 86662 | 0 | 1.0 | 0.007 | GP (contact) |
pe2r4_human | 224 | ICL3 | G => A | missense | 1.557e-05 | 1 | 64216 | 0 | 0.08 | 0.241 | ||
pe2r4_human | 225 | ICL3 | T => N | missense | 3.114e-05 | 2 | 64222 | 0 | 0.05 | 0.014 | ||
pe2r4_human | 229 | ICL3 | H => Q | missense | 1.96e-05 | 1 | 51022 | 0 | 0.23 | 0.023 | ||
pe2r4_human | 230 | ICL3 | A => E | missense | 1.926e-05 | 1 | 51920 | 0 | 0.53 | 0.206 | ||
pe2r4_human | 230 | ICL3 | A => V | missense | 1.926e-05 | 1 | 51920 | 0 | 0.36 | 0.021 | ||
pe2r4_human | 238 | ICL3 | S => T | missense | 1.687e-05 | 1 | 59284 | 0 | 0.42 | 0.001 | ||
pe2r4_human | 243 | ICL3 | A => T | missense | 4.46e-05 | 3 | 67258 | 0 | 0.53 | 0.001 | ||
pe2r4_human | 247 | ICL3 | A => G | missense | 2.521e-05 | 2 | 79330 | 0 | nan | 0.004 | ||
pe2r4_human | 249 | ICL3 | P => Q | missense | 6.992e-05 | 6 | 85818 | 0 | 0.25 | 0.013 | ||
pe2r4_human | 249 | ICL3 | P => R | missense | 1.165e-05 | 1 | 85818 | 0 | 0.1 | 0.039 | ||
pe2r4_human | 253 | ICL3 | D => G | missense | 1.031e-05 | 1 | 96982 | 0 | 0.09 | 0.446 | ||
pe2r4_human | 258 | ICL3 | R => G | missense | 9.574e-06 | 1 | 104446 | 0 | 0.01 | 0.899 | ||
pe2r4_human | 258 | ICL3 | R => P | missense | 9.496e-06 | 1 | 105312 | 0 | 0.04 | 0.249 | ||
pe2r4_human | 265 | 6.28x28 | TM6 | G => V | missense | 1.84e-05 | 2 | 108692 | 0 | 0.0 | 0.616 | GP (contact) |
pe2r4_human | 272 | 6.35x35 | TM6 | I => F | missense | 1.836e-05 | 2 | 108944 | 0 | 0.08 | 0.111 | |
pe2r4_human | 289 | 6.52x52 | TM6 | V => M | missense | 1.88e-05 | 2 | 106408 | 0 | 0.0 | 0.2 | |
pe2r4_human | 294 | 6.57x57 | TM6 | V => I | missense | 0.01695 | 2017 | 118990 | 17 | 0.4 | 0.002 | |
pe2r4_human | 300 | ECL3 | P => S | missense | 4.973e-05 | 6 | 120658 | 0 | 0.19 | 0.026 | ||
pe2r4_human | 301 | ECL3 | S => R | missense | 8.278e-06 | 1 | 120798 | 0 | 0.36 | 0.005 | ||
pe2r4_human | 304 | ECL3 | R => Q | missense | 9.08e-05 | 11 | 121142 | 0 | 0.57 | 0.009 | ||
pe2r4_human | 313 | 7.37x36 | TM7 | Q => K | missense | 0.001187 | 144 | 121360 | 0 | 1.0 | 0.036 | |
pe2r4_human | 335 | 8.49x49 | H8 | T => A | missense | 8.239e-06 | 1 | 121372 | 0 | 0.32 | 0.003 | PTM (Phosphorylation) GP (contact) |
pe2r4_human | 335 | 8.49x49 | H8 | T => R | missense | 1.648e-05 | 2 | 121374 | 0 | 0.0 | 0.197 | PTM (Phosphorylation) GP (contact) |
pe2r4_human | 341 | 8.55x55 | H8 | I => V | missense | 8.239e-06 | 1 | 121370 | 0 | 0.37 | 0.003 | |
pe2r4_human | 345 | 8.59x59 | H8 | K => N | missense | 8.24e-06 | 1 | 121354 | 0 | 0.01 | 0.762 | |
pe2r4_human | 346 | 8.60x60 | H8 | C => S | missense | 8.241e-06 | 1 | 121346 | 0 | 0.14 | 0.392 | |
pe2r4_human | 348 | C-term | F => S | missense | 1.648e-05 | 2 | 121328 | 0 | 0.0 | 0.933 | ||
pe2r4_human | 350 | C-term | R => H | missense | 3.312e-05 | 4 | 120756 | 0 | 0.0 | 0.696 | ||
pe2r4_human | 351 | C-term | I => T | missense | 8.282e-06 | 1 | 120742 | 0 | 0.14 | 0.313 | ||
pe2r4_human | 355 | C-term | R => C | missense | 0.0001986 | 24 | 120830 | 0 | 0.01 | 0.556 | ||
pe2r4_human | 355 | C-term | R => H | missense | 6.619e-05 | 8 | 120868 | 0 | 0.14 | 0.005 | ||
pe2r4_human | 356 | C-term | R => G | missense | 8.271e-06 | 1 | 120904 | 0 | 0.18 | 0.002 | ||
pe2r4_human | 357 | C-term | E => D | missense | 3.307e-05 | 4 | 120958 | 0 | 0.8 | 0.001 | ||
pe2r4_human | 358 | C-term | R => C | missense | 0.0002397 | 29 | 120960 | 0 | 0.07 | 0.368 | ||
pe2r4_human | 358 | C-term | R => H | missense | 1.653e-05 | 2 | 120966 | 0 | 0.33 | 0.001 | ||
pe2r4_human | 360 | C-term | G => R | missense | 1.652e-05 | 2 | 121064 | 0 | 0.09 | 0.003 | ||
pe2r4_human | 362 | C-term | H => R | missense | 8.255e-06 | 1 | 121144 | 0 | 0.33 | 0.002 | ||
pe2r4_human | 382 | C-term | S => C | missense | 4.948e-05 | 6 | 121258 | 0 | 0.0 | 0.728 | PTM (Phosphorylation) | |
pe2r4_human | 383 | C-term | R => W | missense | 8.248e-06 | 1 | 121246 | 0 | 0.04 | 0.01 | ||
pe2r4_human | 383 | C-term | R => Q | missense | 4.949e-05 | 6 | 121242 | 0 | 0.11 | 0.347 | ||
pe2r4_human | 386 | C-term | K => R | missense | 8.247e-06 | 1 | 121262 | 0 | 1.0 | 0.001 | ||
pe2r4_human | 386 | C-term | K => N | missense | 8.246e-06 | 1 | 121268 | 0 | 0.01 | 0.138 | ||
pe2r4_human | 391 | C-term | T => I | missense | 8.245e-06 | 1 | 121280 | 0 | 0.03 | 0.614 | ||
pe2r4_human | 395 | C-term | L => F | missense | 8.245e-06 | 1 | 121284 | 0 | 0.5 | 0.015 | ||
pe2r4_human | 401 | C-term | L => Q | missense | 8.246e-06 | 1 | 121278 | 0 | 0.05 | 0.079 | ||
pe2r4_human | 403 | C-term | D => N | missense | 1.649e-05 | 2 | 121284 | 0 | 0.11 | 0.047 | ||
pe2r4_human | 407 | C-term | N => S | missense | 8.245e-06 | 1 | 121290 | 0 | 0.8 | 0.0 | ||
pe2r4_human | 409 | C-term | L => P | missense | 8.245e-06 | 1 | 121290 | 0 | 0.09 | 0.248 | ||
pe2r4_human | 413 | C-term | N => D | missense | 8.245e-06 | 1 | 121292 | 0 | 0.41 | 0.021 | ||
pe2r4_human | 417 | C-term | G => R | missense | 8.245e-06 | 1 | 121288 | 0 | nan | 0.927 | ||
pe2r4_human | 418 | C-term | V => M | missense | 8.245e-06 | 1 | 121280 | 0 | nan | 0.332 | ||
pe2r4_human | 420 | C-term | G => D | missense | 0.0001319 | 16 | 121286 | 0 | nan | 0.003 | ||
pe2r4_human | 423 | C-term | L => Q | missense | 8.246e-06 | 1 | 121276 | 0 | nan | 0.01 | ||
pe2r4_human | 425 | C-term | Q => R | missense | 8.247e-06 | 1 | 121260 | 0 | nan | 0.031 | ||
pe2r4_human | 426 | C-term | E => D | missense | 8.248e-06 | 1 | 121244 | 0 | nan | 0.008 | ||
pe2r4_human | 427 | C-term | D => H | missense | 2.474e-05 | 3 | 121240 | 0 | nan | 0.503 | ||
pe2r4_human | 428 | C-term | T => P | missense | 6.599e-05 | 8 | 121234 | 0 | nan | 0.265 | ||
pe2r4_human | 430 | C-term | S => L | missense | 5.775e-05 | 7 | 121208 | 0 | nan | 0.002 | PTM (Phosphorylation) | |
pe2r4_human | 434 | C-term | L => W | missense | 8.254e-06 | 1 | 121158 | 0 | nan | 0.002 | ||
pe2r4_human | 434 | C-term | L => S | missense | 8.254e-06 | 1 | 121158 | 0 | nan | 0.135 | ||
pe2r4_human | 435 | C-term | R => Q | missense | 0.0001238 | 15 | 121116 | 0 | nan | 0.033 | ||
pe2r4_human | 441 | C-term | D => V | missense | 8.26e-06 | 1 | 121060 | 0 | nan | 0.007 | ||
pe2r4_human | 444 | C-term | Q => E | missense | 8.263e-06 | 1 | 121018 | 0 | nan | 0.012 | ||
pe2r4_human | 446 | C-term | Q => R | missense | 7.439e-05 | 9 | 120990 | 0 | nan | 0.021 | ||
pe2r4_human | 447 | C-term | D => Y | missense | 4.132e-05 | 5 | 121002 | 0 | nan | 0.804 | ||
pe2r4_human | 455 | C-term | D => G | missense | 8.273e-06 | 1 | 120876 | 0 | nan | 0.114 | ||
pe2r4_human | 459 | C-term | G => E | missense | 8.516e-06 | 1 | 117430 | 0 | nan | 0.007 | ||
pe2r4_human | 461 | C-term | G => S | missense | 6.782e-05 | 8 | 117968 | 0 | 1.0 | 0.001 | ||
pe2r4_human | 467 | C-term | P => L | missense | 8.39e-06 | 1 | 119190 | 0 | nan | 0.034 | ||
pe2r4_human | 472 | C-term | L => V | missense | 8.41e-06 | 1 | 118904 | 0 | nan | 0.718 | ||
pe2r4_human | 473 | C-term | Q => K | missense | 8.418e-06 | 1 | 118798 | 0 | nan | 0.03 | ||
pe2r4_human | 475 | C-term | T => A | missense | 8.449e-06 | 1 | 118362 | 0 | nan | 0.02 | ||
pe2r4_human | 476 | C-term | F => V | missense | 8.472e-06 | 1 | 118040 | 0 | nan | 0.78 | ||
pe2r4_human | 483 | C-term | L => S | missense | 2.616e-05 | 3 | 114682 | 0 | nan | 0.005 | ||
pe2r4_human | 488 | C-term | I => M | missense | 2.675e-05 | 3 | 112156 | 0 | nan | 0.996 |
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