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 |
ptafr_human | 330 | C-term | V => GlyfsTer20 | frameshift | 8.304e-06 | 1 | 120424 | 0 | None | None | ||
ptafr_human | 323 | C-term | D => ValfsTer27 | frameshift | 8.247e-06 | 1 | 121260 | 0 | None | None | ||
ptafr_human | 252 | 6.55x55 | TM6 | Q => Ter | stop gained | 8.299e-06 | 1 | 120500 | 0 | None | None | |
ptafr_human | 230 | 6.33x34 | TM6 | A => GlyfsTer30 | frameshift | 8.344e-06 | 1 | 119842 | 0 | None | None | SodiumPocket MicroSwitch |
ptafr_human | 177 | ECL2 | Y => Ter | stop gained | 1.65e-05 | 2 | 121226 | 0 | None | None | ||
ptafr_human | 70 | 2.57x57 | TM2 | L => CysfsTer50 | frameshift | 1.648e-05 | 2 | 121392 | 0 | None | None | |
ptafr_human | 342 | C-term | N => D | missense | 8.625e-06 | 1 | 115944 | 0 | nan | 0.003 | ||
ptafr_human | 338 | C-term | N => S | missense | 0.007644 | 899 | 117602 | 36 | nan | 0.001 | ||
ptafr_human | 338 | C-term | N => D | missense | 2.546e-05 | 3 | 117840 | 0 | nan | 0.0 | ||
ptafr_human | 337 | C-term | G => V | missense | 8.46e-06 | 1 | 118210 | 0 | nan | 0.0 | ||
ptafr_human | 337 | C-term | G => S | missense | 8.436e-06 | 1 | 118534 | 0 | nan | 0.015 | ||
ptafr_human | 333 | C-term | N => S | missense | 8.341e-06 | 1 | 119890 | 0 | 0.34 | 0.007 | ||
ptafr_human | 328 | C-term | V => M | missense | 8.273e-06 | 1 | 120868 | 0 | 0.17 | 0.021 | ||
ptafr_human | 327 | C-term | E => D | missense | 8.271e-06 | 1 | 120910 | 0 | 0.34 | 0.015 | ||
ptafr_human | 326 | C-term | T => I | missense | 8.26e-06 | 1 | 121060 | 0 | 1.0 | 0.002 | ||
ptafr_human | 326 | C-term | T => A | missense | 8.258e-06 | 1 | 121098 | 0 | 0.21 | 0.05 | ||
ptafr_human | 323 | C-term | D => G | missense | 8.246e-06 | 1 | 121266 | 0 | 0.02 | 0.297 | ||
ptafr_human | 323 | C-term | D => N | missense | 8.246e-06 | 1 | 121266 | 0 | 0.21 | 0.027 | ||
ptafr_human | 322 | C-term | T => M | missense | 8.243e-06 | 1 | 121308 | 0 | 0.07 | 0.081 | ||
ptafr_human | 321 | C-term | T => A | missense | 8.242e-05 | 10 | 121336 | 0 | 0.08 | 0.997 | ||
ptafr_human | 317 | C-term | C => W | missense | 8.239e-06 | 1 | 121376 | 0 | 0.0 | 0.982 | ||
ptafr_human | 317 | C-term | C => R | missense | 8.239e-06 | 1 | 121376 | 0 | 0.0 | 0.945 | ||
ptafr_human | 315 | C-term | R => Q | missense | 4.119e-05 | 5 | 121386 | 0 | 0.14 | 0.045 | ||
ptafr_human | 314 | C-term | S => R | missense | 1.648e-05 | 2 | 121394 | 0 | 0.08 | 0.776 | ||
ptafr_human | 314 | C-term | S => G | missense | 8.238e-06 | 1 | 121394 | 0 | 0.48 | 0.025 | ||
ptafr_human | 312 | 8.62x62 | H8 | R => L | missense | 8.238e-06 | 1 | 121396 | 0 | 0.03 | 0.436 | |
ptafr_human | 312 | 8.62x62 | H8 | R => C | missense | 8.237e-06 | 1 | 121398 | 0 | 0.01 | 0.891 | |
ptafr_human | 306 | 8.56x56 | H8 | E => K | missense | 8.237e-06 | 1 | 121406 | 0 | 0.15 | 0.118 | |
ptafr_human | 301 | 8.51x51 | H8 | R => L | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.866 | GP (contact) |
ptafr_human | 301 | 8.51x51 | H8 | R => H | missense | 8.237e-06 | 1 | 121404 | 0 | 0.02 | 0.091 | GP (contact) |
ptafr_human | 301 | 8.51x51 | H8 | R => C | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.939 | GP (contact) |
ptafr_human | 299 | 7.59x59 | TM7 | K => N | missense | 2.471e-05 | 3 | 121396 | 0 | 0.06 | 0.662 | |
ptafr_human | 295 | 7.55x55 | TM7 | F => C | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.999 | GP (contact) |
ptafr_human | 292 | 7.52x52 | TM7 | I => F | missense | 1.648e-05 | 2 | 121380 | 0 | 0.0 | 1.0 | |
ptafr_human | 291 | 7.51x51 | TM7 | V => I | missense | 8.239e-06 | 1 | 121376 | 0 | 0.9 | 0.011 | |
ptafr_human | 275 | 7.35x34 | TM7 | H => Y | missense | 1.651e-05 | 2 | 121112 | 0 | 0.0 | 1.0 | LB (Van der Waals) |
ptafr_human | 274 | 7.34x33 | TM7 | A => T | missense | 0.001215 | 147 | 121034 | 0 | 0.07 | 0.202 | |
ptafr_human | 267 | 7.27x26 | TM7 | F => L | missense | 8.27e-06 | 1 | 120918 | 0 | 0.72 | 0.009 | |
ptafr_human | 265 | 7.25x24 | TM7 | S => N | missense | 8.278e-06 | 1 | 120808 | 0 | 0.51 | 0.004 | |
ptafr_human | 264 | 7.24x23 | TM7 | D => E | missense | 8.275e-06 | 1 | 120848 | 0 | 0.41 | 0.077 | |
ptafr_human | 250 | 6.53x53 | TM6 | V => M | missense | 3.322e-05 | 4 | 120426 | 0 | 0.25 | 0.031 | |
ptafr_human | 249 | 6.52x52 | TM6 | H => Y | missense | 8.305e-06 | 1 | 120408 | 0 | 0.0 | 1.0 | |
ptafr_human | 249 | 6.52x52 | TM6 | H => D | missense | 8.305e-06 | 1 | 120408 | 0 | 0.0 | 1.0 | |
ptafr_human | 242 | 6.45x46 | TM6 | I => V | missense | 8.313e-06 | 1 | 120298 | 0 | 0.97 | 0.006 | |
ptafr_human | 239 | 6.42x43 | TM6 | A => V | missense | 4.161e-05 | 5 | 120162 | 0 | 0.12 | 0.026 | |
ptafr_human | 232 | 6.35x36 | TM6 | W => R | missense | 8.331e-06 | 1 | 120032 | 0 | 1.0 | 0.392 | GP (contact) |
ptafr_human | 230 | 6.33x34 | TM6 | A => V | missense | 1.669e-05 | 2 | 119842 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
ptafr_human | 229 | 6.32x33 | TM6 | R => Q | missense | 0.000259 | 31 | 119696 | 0 | 0.13 | 0.672 | GP (contact) |
ptafr_human | 229 | 6.32x33 | TM6 | R => W | missense | 8.35e-06 | 1 | 119764 | 0 | 0.0 | 0.998 | GP (contact) |
ptafr_human | 228 | 6.31x32 | TM6 | R => H | missense | 6.682e-05 | 8 | 119718 | 0 | 0.11 | 0.011 | GP (contact) |
ptafr_human | 228 | 6.31x32 | TM6 | R => C | missense | 8.351e-06 | 1 | 119752 | 0 | 0.02 | 0.027 | GP (contact) |
ptafr_human | 225 | 6.28x29 | TM6 | E => D | missense | 8.355e-06 | 1 | 119688 | 0 | 0.53 | 0.006 | GP (contact) |
ptafr_human | 224 | 6.27x28 | TM6 | A => D | missense | 0.007462 | 892 | 119532 | 33 | 0.28 | 0.861 | GP (contact) |
ptafr_human | 224 | 6.27x28 | TM6 | A => T | missense | 1.674e-05 | 2 | 119510 | 0 | 0.43 | 0.161 | GP (contact) |
ptafr_human | 222 | 6.25x26 | TM6 | R => H | missense | 0.0001256 | 15 | 119384 | 0 | 0.08 | 0.004 | GP (contact) |
ptafr_human | 222 | 6.25x26 | TM6 | R => C | missense | 8.375e-06 | 1 | 119396 | 0 | 0.05 | 0.002 | GP (contact) |
ptafr_human | 217 | ICL3 | P => L | missense | 3.356e-05 | 4 | 119182 | 0 | 0.02 | 0.732 | ||
ptafr_human | 215 | 5.67x67 | TM5 | M => T | missense | 8.387e-06 | 1 | 119232 | 0 | 0.56 | 0.001 | GP (contact) |
ptafr_human | 211 | 5.63x63 | TM5 | R => C | missense | 1.682e-05 | 2 | 118910 | 0 | 0.02 | 0.937 | |
ptafr_human | 208 | 5.60x60 | TM5 | V => L | missense | 3.362e-05 | 4 | 118968 | 0 | 1.0 | 0.015 | |
ptafr_human | 206 | 5.58x58 | TM5 | N => Y | missense | 8.391e-06 | 1 | 119176 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
ptafr_human | 193 | 5.45x45 | TM5 | F => S | missense | 2.499e-05 | 3 | 120048 | 0 | 0.44 | 0.007 | |
ptafr_human | 192 | 5.44x44 | TM5 | V => M | missense | 5.826e-05 | 7 | 120156 | 0 | 0.01 | 0.839 | |
ptafr_human | 186 | 5.38x38 | TM5 | I => V | missense | 8.284e-06 | 1 | 120718 | 0 | 1.0 | 0.009 | |
ptafr_human | 184 | 5.36x36 | TM5 | V => I | missense | 8.273e-06 | 1 | 120882 | 0 | 0.12 | 0.186 | |
ptafr_human | 182 | 5.34x34 | TM5 | V => M | missense | 4.132e-05 | 5 | 120994 | 0 | 0.15 | 0.004 | |
ptafr_human | 178 | ECL2 | E => K | missense | 0.0001403 | 17 | 121198 | 0 | 0.05 | 0.269 | ||
ptafr_human | 176 | ECL2 | H => R | missense | 8.246e-06 | 1 | 121276 | 0 | 0.28 | 0.015 | ||
ptafr_human | 175 | 45.52x52 | ECL2 | E => Q | missense | 8.245e-06 | 1 | 121284 | 0 | 0.0 | 1.0 | |
ptafr_human | 172 | ECL2 | R => C | missense | 1.648e-05 | 2 | 121324 | 0 | 0.0 | 0.999 | ||
ptafr_human | 171 | ECL2 | T => I | missense | 8.241e-06 | 1 | 121340 | 0 | 0.12 | 0.949 | ||
ptafr_human | 170 | ECL2 | V => I | missense | 8.241e-06 | 1 | 121346 | 0 | 1.0 | 0.003 | ||
ptafr_human | 165 | ECL2 | A => P | missense | 8.239e-06 | 1 | 121374 | 0 | 0.27 | 0.006 | ||
ptafr_human | 163 | ECL2 | D => N | missense | 3.295e-05 | 4 | 121386 | 0 | 0.93 | 0.001 | ||
ptafr_human | 162 | ECL2 | P => S | missense | 2.471e-05 | 3 | 121386 | 0 | 0.61 | 0.002 | ||
ptafr_human | 161 | ECL2 | V => G | missense | 1.648e-05 | 2 | 121392 | 0 | 0.38 | 0.608 | ||
ptafr_human | 156 | ECL2 | D => E | missense | 8.237e-06 | 1 | 121400 | 0 | 0.73 | 0.022 | ||
ptafr_human | 155 | 4.63x63 | TM4 | L => P | missense | 8.237e-06 | 1 | 121404 | 0 | 0.36 | 0.226 | |
ptafr_human | 154 | 4.62x62 | TM4 | I => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.22 | 0.006 | |
ptafr_human | 145 | 4.53x53 | TM4 | I => F | missense | 6.589e-05 | 8 | 121408 | 0 | 0.01 | 0.829 | |
ptafr_human | 144 | 4.52x52 | TM4 | A => V | missense | 0.0001318 | 16 | 121410 | 0 | 1.0 | 0.003 | |
ptafr_human | 144 | 4.52x52 | TM4 | A => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.12 | 0.011 | |
ptafr_human | 133 | 4.41x41 | TM4 | R => H | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 1.0 | |
ptafr_human | 131 | 4.39x39 | TM4 | R => H | missense | 8.237e-06 | 1 | 121410 | 0 | 0.01 | 0.98 | |
ptafr_human | 131 | 4.39x39 | TM4 | R => C | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.986 | |
ptafr_human | 121 | 3.56x56 | TM3 | R => Q | missense | 9.06e-05 | 11 | 121410 | 0 | 0.24 | 0.006 | GP (contact) |
ptafr_human | 114 | 3.49x49 | TM3 | N => S | missense | 0.002735 | 332 | 121410 | 2 | 0.03 | 0.999 | SodiumPocket MicroSwitch |
ptafr_human | 110 | 3.45x45 | TM3 | V => I | missense | 1.647e-05 | 2 | 121410 | 0 | 0.05 | 0.21 | |
ptafr_human | 99 | 3.34x34 | TM3 | I => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.877 | |
ptafr_human | 95 | 3.30x30 | TM3 | C => Y | missense | 8.236e-06 | 1 | 121412 | 0 | 0.21 | 0.125 | |
ptafr_human | 92 | 3.27x27 | TM3 | V => M | missense | 2.471e-05 | 3 | 121412 | 0 | 0.07 | 0.261 | |
ptafr_human | 87 | 3.22x22 | TM3 | K => R | missense | 2.471e-05 | 3 | 121410 | 0 | 0.1 | 0.011 | |
ptafr_human | 87 | 3.22x22 | TM3 | K => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.12 | 0.011 | |
ptafr_human | 79 | 2.66x66 | TM2 | N => K | missense | 8.237e-06 | 1 | 121404 | 0 | 0.67 | 0.529 | |
ptafr_human | 78 | 2.65x65 | TM2 | Q => E | missense | 8.237e-06 | 1 | 121400 | 0 | 0.24 | 0.021 | |
ptafr_human | 60 | 2.47x47 | TM2 | T => N | missense | 8.24e-06 | 1 | 121360 | 0 | 0.0 | 0.983 | |
ptafr_human | 50 | 2.37x37 | TM2 | N => S | missense | 5.771e-05 | 7 | 121300 | 0 | 0.29 | 0.095 | |
ptafr_human | 46 | ICL1 | C => R | missense | 8.246e-06 | 1 | 121274 | 0 | 0.09 | 0.001 | ||
ptafr_human | 42 | 1.59x59 | TM1 | R => H | missense | 8.252e-06 | 1 | 121186 | 0 | 0.17 | 0.002 | |
ptafr_human | 36 | 1.53x53 | TM1 | V => M | missense | 8.256e-06 | 1 | 121130 | 0 | 0.0 | 1.0 | |
ptafr_human | 35 | 1.52x52 | TM1 | Y => C | missense | 8.256e-06 | 1 | 121128 | 0 | 0.0 | 1.0 | |
ptafr_human | 29 | 1.46x46 | TM1 | G => R | missense | 8.271e-06 | 1 | 120902 | 0 | 0.0 | 1.0 | |
ptafr_human | 28 | 1.45x45 | TM1 | L => F | missense | 0.0007617 | 92 | 120780 | 1 | 0.03 | 0.079 | |
ptafr_human | 24 | 1.41x41 | TM1 | I => T | missense | 8.318e-06 | 1 | 120224 | 0 | 0.0 | 0.548 | |
ptafr_human | 21 | 1.38x38 | TM1 | V => I | missense | 8.422e-06 | 1 | 118734 | 0 | 0.36 | 0.002 | |
ptafr_human | 14 | 1.31x31 | TM1 | R => Q | missense | 1.728e-05 | 2 | 115740 | 0 | 0.0 | 0.999 | |
ptafr_human | 9 | N-term | M => L | missense | 8.792e-06 | 1 | 113746 | 0 | 0.95 | 0.0 | ||
ptafr_human | 8 | N-term | H => R | missense | 8.816e-06 | 1 | 113432 | 0 | 0.48 | 0.0 | ||
ptafr_human | 6 | N-term | S => F | missense | 8.902e-06 | 1 | 112336 | 0 | 0.04 | 0.002 | ||
ptafr_human | 3 | N-term | P => T | missense | 9.026e-06 | 1 | 110796 | 0 | nan | 0.001 |
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