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 |
oprk_human | 369 | C-term | Y => Ter | stop gained | 8.254e-06 | 1 | 121152 | 0 | None | None | ||
oprk_human | 361 | C-term | R => Ter | stop gained | 8.241e-06 | 1 | 121344 | 0 | None | None | ||
oprk_human | 263 | 6.24x24 | TM6 | R => Ter | stop gained | 0.000305 | 37 | 121324 | 0 | None | None | |
oprk_human | 140 | 3.34x34 | TM3 | Y => ThrfsTer10 | frameshift | 8.239e-06 | 1 | 121372 | 0 | None | None | |
oprk_human | 74 | 1.47x47 | TM1 | L => PhefsTer27 | frameshift | 8.492e-06 | 1 | 117760 | 0 | None | None | |
oprk_human | 380 | C-term | V => L | missense | 0.0001098 | 13 | 118400 | 0 | nan | 0.985 | ||
oprk_human | 376 | C-term | M => I | missense | 8.357e-06 | 1 | 119654 | 0 | nan | 0.0 | ||
oprk_human | 376 | C-term | M => T | missense | 1.669e-05 | 2 | 119818 | 0 | 1.0 | 0.0 | ||
oprk_human | 374 | C-term | D => G | missense | 8.301e-06 | 1 | 120472 | 0 | 0.06 | 0.0 | ||
oprk_human | 374 | C-term | D => N | missense | 0.006347 | 765 | 120524 | 16 | 0.04 | 0.177 | ||
oprk_human | 374 | C-term | D => H | missense | 8.297e-06 | 1 | 120524 | 0 | 0.04 | 0.022 | ||
oprk_human | 372 | C-term | D => H | missense | 1.653e-05 | 2 | 120990 | 0 | 0.12 | 0.004 | ||
oprk_human | 366 | C-term | D => H | missense | 8.243e-06 | 1 | 121310 | 0 | 0.08 | 0.255 | ||
oprk_human | 361 | C-term | R => Q | missense | 2.472e-05 | 3 | 121340 | 0 | 0.05 | 0.003 | ||
oprk_human | 354 | C-term | R => P | missense | 8.24e-06 | 1 | 121362 | 0 | 0.19 | 0.222 | ||
oprk_human | 354 | C-term | R => W | missense | 2.472e-05 | 3 | 121360 | 0 | 0.01 | 0.329 | ||
oprk_human | 352 | C-term | M => I | missense | 8.24e-06 | 1 | 121364 | 0 | 0.34 | 0.003 | ||
oprk_human | 343 | 8.56x56 | H8 | D => N | missense | 4.944e-05 | 6 | 121352 | 0 | 0.51 | 0.94 | |
oprk_human | 342 | 8.55x55 | H8 | R => Q | missense | 1.648e-05 | 2 | 121338 | 0 | 0.44 | 0.073 | |
oprk_human | 342 | 8.55x55 | H8 | R => W | missense | 3.296e-05 | 4 | 121346 | 0 | 0.0 | 0.76 | |
oprk_human | 339 | 8.52x52 | H8 | R => Q | missense | 8.242e-06 | 1 | 121330 | 0 | 0.06 | 0.997 | |
oprk_human | 339 | 8.52x52 | H8 | R => P | missense | 1.648e-05 | 2 | 121330 | 0 | 0.0 | 0.999 | |
oprk_human | 339 | 8.52x52 | H8 | R => W | missense | 8.242e-06 | 1 | 121334 | 0 | 0.0 | 0.999 | |
oprk_human | 333 | 7.56x56 | TM7 | L => P | missense | 1.648e-05 | 2 | 121328 | 0 | 0.0 | 0.956 | GP (contact) |
oprk_human | 331 | 7.54x54 | TM7 | A => T | missense | 2.473e-05 | 3 | 121316 | 0 | 0.0 | 0.74 | |
oprk_human | 318 | 7.41x40 | TM7 | L => F | missense | 8.246e-06 | 1 | 121276 | 0 | 0.0 | 1.0 | |
oprk_human | 317 | 7.40x39 | TM7 | A => T | missense | 1.649e-05 | 2 | 121270 | 0 | 0.02 | 1.0 | |
oprk_human | 306 | 7.29x28 | TM7 | T => P | missense | 8.246e-05 | 10 | 121270 | 0 | 0.53 | 0.093 | |
oprk_human | 305 | 7.28x27 | TM7 | S => G | missense | 8.246e-06 | 1 | 121278 | 0 | 0.04 | 0.001 | LB (polar (hydrogen bond with backbone), polar (hydrogen bond), Van der Waals) |
oprk_human | 302 | ECL3 | T => N | missense | 8.246e-06 | 1 | 121268 | 0 | 0.13 | 0.112 | ||
oprk_human | 296 | 6.57x57 | TM6 | V => A | missense | 8.245e-06 | 1 | 121288 | 0 | 0.09 | 0.999 | |
oprk_human | 294 | 6.55x55 | TM6 | I => T | missense | 8.244e-06 | 1 | 121300 | 0 | 0.07 | 0.542 | LB (hydrophobic, Van der Waals) |
oprk_human | 293 | 6.54x54 | TM6 | F => L | missense | 1.649e-05 | 2 | 121300 | 0 | 0.09 | 0.998 | LB (hydrophobic, Van der Waals) |
oprk_human | 291 | 6.52x52 | TM6 | H => N | missense | 7.42e-05 | 9 | 121298 | 1 | 0.0 | 0.999 | LB (Van der Waals, aromatic (face-to-edge)) |
oprk_human | 290 | 6.51x51 | TM6 | I => V | missense | 4.122e-05 | 5 | 121308 | 0 | 0.13 | 0.997 | LB (hydrophobic, Van der Waals) |
oprk_human | 288 | 6.49x49 | TM6 | T => I | missense | 8.244e-06 | 1 | 121294 | 0 | 0.1 | 1.0 | |
oprk_human | 287 | 6.48x48 | TM6 | W => C | missense | 8.244e-06 | 1 | 121298 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch LB (hydrophobic, Van der Waals) |
oprk_human | 286 | 6.47x47 | TM6 | C => R | missense | 2.473e-05 | 3 | 121298 | 0 | 0.0 | 0.186 | |
oprk_human | 285 | 6.46x46 | TM6 | V => I | missense | 1.649e-05 | 2 | 121284 | 0 | 0.68 | 0.023 | |
oprk_human | 284 | 6.45x45 | TM6 | V => I | missense | 6.596e-05 | 8 | 121290 | 0 | 0.63 | 0.007 | |
oprk_human | 281 | 6.42x42 | TM6 | A => V | missense | 1.649e-05 | 2 | 121288 | 0 | 0.09 | 1.0 | |
oprk_human | 281 | 6.42x42 | TM6 | A => S | missense | 8.245e-06 | 1 | 121288 | 0 | 0.0 | 0.999 | |
oprk_human | 280 | 6.41x41 | TM6 | V => M | missense | 8.244e-06 | 1 | 121300 | 0 | 0.0 | 1.0 | |
oprk_human | 274 | 6.35x35 | TM6 | R => K | missense | 8.243e-06 | 1 | 121314 | 0 | 0.02 | 0.057 | |
oprk_human | 270 | 6.31x31 | TM6 | R => H | missense | 1.649e-05 | 2 | 121300 | 0 | 0.0 | 1.0 | |
oprk_human | 270 | 6.31x31 | TM6 | R => C | missense | 2.473e-05 | 3 | 121314 | 0 | 0.0 | 1.0 | |
oprk_human | 269 | 6.30x30 | TM6 | L => P | missense | 1.649e-05 | 2 | 121304 | 0 | 0.01 | 1.0 | SodiumPocket MicroSwitch |
oprk_human | 268 | 6.29x29 | TM6 | N => K | missense | 8.243e-06 | 1 | 121310 | 0 | 0.0 | 1.0 | GP (contact) |
oprk_human | 257 | ICL3 | R => Q | missense | 3.297e-05 | 4 | 121336 | 0 | 0.01 | 0.999 | ||
oprk_human | 257 | ICL3 | R => W | missense | 1.648e-05 | 2 | 121332 | 0 | 0.0 | 1.0 | ||
oprk_human | 256 | 5.68x68 | TM5 | V => I | missense | 6.593e-05 | 8 | 121334 | 0 | 0.0 | 0.999 | GP (contact) |
oprk_human | 252 | 5.64x64 | TM5 | R => C | missense | 1.648e-05 | 2 | 121334 | 0 | 0.0 | 1.0 | GP (contact) |
oprk_human | 250 | 5.62x62 | TM5 | I => V | missense | 8.242e-06 | 1 | 121334 | 0 | 0.46 | 0.136 | |
oprk_human | 244 | 5.56x56 | TM5 | V => I | missense | 3.298e-05 | 4 | 121296 | 0 | 0.46 | 0.023 | LB (hydrophobic, Van der Waals) |
oprk_human | 237 | 5.49x49 | TM5 | I => V | missense | 1.652e-05 | 2 | 121102 | 0 | 1.0 | 0.009 | LB (hydrophobic, Van der Waals) |
oprk_human | 237 | 5.49x49 | TM5 | I => F | missense | 8.258e-06 | 1 | 121102 | 0 | 0.04 | 0.487 | LB (hydrophobic, Van der Waals) |
oprk_human | 236 | 5.48x48 | TM5 | V => M | missense | 3.305e-05 | 4 | 121018 | 0 | 0.09 | 0.798 | |
oprk_human | 235 | 5.47x47 | TM5 | F => L | missense | 6.619e-05 | 8 | 120872 | 0 | 0.0 | 0.998 | SodiumPocket MicroSwitch |
oprk_human | 232 | 5.44x45 | TM5 | I => V | missense | 8.327e-06 | 1 | 120088 | 0 | 0.54 | 0.001 | |
oprk_human | 230 | 5.42x43 | TM5 | V => I | missense | 5.861e-05 | 7 | 119440 | 0 | 0.1 | 0.999 | LB (hydrophobic, Van der Waals) |
oprk_human | 228 | 5.40x41 | TM5 | I => S | missense | 8.41e-06 | 1 | 118900 | 0 | 0.0 | 0.565 | |
oprk_human | 213 | ECL2 | Q => R | missense | 8.741e-06 | 1 | 114400 | 0 | 0.41 | 0.998 | ||
oprk_human | 211 | 45.51x51 | ECL2 | S => Y | missense | 8.781e-06 | 1 | 113886 | 0 | 0.02 | 0.958 | LB (Van der Waals) |
oprk_human | 210 | 45.50x50 | ECL2 | C => Y | missense | 8.831e-06 | 1 | 113238 | 0 | 0.0 | 1.0 | LB (hydrophobic, Van der Waals, polar (hydrogen bond with backbone)) |
oprk_human | 206 | ECL2 | D => N | missense | 3.624e-05 | 4 | 110366 | 0 | 0.64 | 0.221 | ||
oprk_human | 205 | ECL2 | V => I | missense | 9.13e-06 | 1 | 109526 | 0 | 0.42 | 0.002 | ||
oprk_human | 204 | ECL2 | D => N | missense | 8.377e-06 | 1 | 119380 | 0 | 0.32 | 0.575 | ||
oprk_human | 204 | ECL2 | D => H | missense | 3.351e-05 | 4 | 119380 | 0 | 0.05 | 0.923 | ||
oprk_human | 201 | ECL2 | V => L | missense | 8.308e-06 | 1 | 120370 | 0 | 0.4 | 0.232 | ||
oprk_human | 200 | ECL2 | K => N | missense | 8.299e-06 | 1 | 120502 | 0 | 0.18 | 0.014 | ||
oprk_human | 200 | ECL2 | K => E | missense | 0.0004479 | 54 | 120574 | 0 | 0.38 | 0.16 | ||
oprk_human | 186 | 4.53x53 | TM4 | S => L | missense | 5.768e-05 | 7 | 121364 | 0 | 0.0 | 0.749 | |
oprk_human | 180 | 4.47x47 | TM4 | I => M | missense | 8.237e-06 | 1 | 121400 | 0 | 0.02 | 0.917 | |
oprk_human | 179 | 4.46x46 | TM4 | N => S | missense | 8.237e-06 | 1 | 121400 | 0 | 0.07 | 0.581 | |
oprk_human | 177 | 4.44x44 | TM4 | I => F | missense | 1.647e-05 | 2 | 121402 | 0 | 0.01 | 0.009 | |
oprk_human | 176 | 4.43x43 | TM4 | K => N | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.966 | |
oprk_human | 175 | 4.42x42 | TM4 | A => S | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.97 | |
oprk_human | 170 | 34.57x57 | ICL2 | R => C | missense | 5.766e-05 | 7 | 121402 | 0 | 0.0 | 0.994 | GP (contact) |
oprk_human | 169 | 34.56x56 | ICL2 | F => S | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.999 | GP (contact) |
oprk_human | 164 | 34.51x51 | ICL2 | V => M | missense | 1.648e-05 | 2 | 121382 | 0 | 0.02 | 0.991 | GP (contact) |
oprk_human | 160 | 3.54x54 | TM3 | V => M | missense | 2.471e-05 | 3 | 121386 | 0 | 0.0 | 1.0 | GP (contact) |
oprk_human | 157 | 3.51x51 | TM3 | Y => S | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 1.0 | |
oprk_human | 156 | 3.50x50 | TM3 | R => H | missense | 8.24e-06 | 1 | 121356 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
oprk_human | 156 | 3.50x50 | TM3 | R => C | missense | 7.416e-05 | 9 | 121356 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
oprk_human | 154 | 3.48x48 | TM3 | V => M | missense | 8.239e-06 | 1 | 121372 | 0 | 0.06 | 1.0 | |
oprk_human | 153 | 3.47x47 | TM3 | S => R | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 1.0 | |
oprk_human | 152 | 3.46x46 | TM3 | M => I | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 0.996 | |
oprk_human | 152 | 3.46x46 | TM3 | M => R | missense | 8.239e-06 | 1 | 121370 | 0 | 0.0 | 0.998 | |
oprk_human | 148 | 3.42x42 | TM3 | T => N | missense | 1.648e-05 | 2 | 121364 | 0 | 0.01 | 1.0 | |
oprk_human | 144 | 3.38x38 | TM3 | T => S | missense | 8.239e-06 | 1 | 121374 | 0 | 0.01 | 0.97 | |
oprk_human | 142 | 3.36x36 | TM3 | M => K | missense | 8.239e-06 | 1 | 121380 | 0 | 0.0 | 0.998 | LB (hydrophobic, Van der Waals) |
oprk_human | 134 | 3.28x28 | TM3 | V => I | missense | 8.238e-06 | 1 | 121390 | 0 | 0.11 | 0.015 | LB (hydrophobic, Van der Waals) |
oprk_human | 133 | 3.27x27 | TM3 | I => T | missense | 0.0001977 | 24 | 121396 | 0 | 0.23 | 0.414 | |
oprk_human | 133 | 3.27x27 | TM3 | I => L | missense | 0.0001318 | 16 | 121396 | 0 | 0.36 | 0.107 | |
oprk_human | 129 | 3.23x23 | TM3 | V => L | missense | 8.237e-06 | 1 | 121408 | 0 | 0.61 | 0.204 | |
oprk_human | 127 | 3.21x21 | TM3 | G => R | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 1.0 | |
oprk_human | 126 | 23.52x52 | ECL1 | F => S | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.999 | |
oprk_human | 125 | 23.51x51 | ECL1 | P => R | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | |
oprk_human | 121 | 2.66x66 | TM2 | M => L | missense | 8.237e-06 | 1 | 121406 | 0 | 1.0 | 0.01 | |
oprk_human | 119 | 2.64x64 | TM2 | Y => F | missense | 8.237e-06 | 1 | 121406 | 0 | 0.08 | 0.198 | |
oprk_human | 117 | 2.62x62 | TM2 | T => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.1 | 0.942 | |
oprk_human | 112 | 2.57x57 | TM2 | M => T | missense | 8.24e-06 | 1 | 121362 | 0 | 0.0 | 0.997 | |
oprk_human | 112 | 2.57x57 | TM2 | M => V | missense | 8.24e-06 | 1 | 121362 | 0 | 0.12 | 0.994 | |
oprk_human | 105 | 2.50x50 | TM2 | D => N | missense | 8.254e-06 | 1 | 121152 | 0 | 0.0 | 1.0 | |
oprk_human | 100 | 2.45x45 | TM2 | N => S | missense | 8.27e-06 | 1 | 120918 | 0 | 0.01 | 0.999 | |
oprk_human | 98 | 2.43x43 | TM2 | I => M | missense | 3.311e-05 | 4 | 120822 | 0 | 0.0 | 1.0 | |
oprk_human | 94 | 2.39x39 | TM2 | T => P | missense | 2.492e-05 | 3 | 120398 | 0 | 0.0 | 1.0 | |
oprk_human | 93 | 2.38x38 | TM2 | A => V | missense | 2.494e-05 | 3 | 120292 | 0 | 0.21 | 0.7 | |
oprk_human | 92 | 2.37x37 | TM2 | T => I | missense | 2.498e-05 | 3 | 120104 | 0 | 0.0 | 1.0 | |
oprk_human | 84 | 1.57x57 | TM1 | I => V | missense | 8.701e-06 | 1 | 114932 | 0 | nan | 0.978 | |
oprk_human | 83 | 1.56x56 | TM1 | V => M | missense | 2.598e-05 | 3 | 115474 | 0 | nan | 0.999 | |
oprk_human | 83 | 1.56x56 | TM1 | V => L | missense | 8.66e-06 | 1 | 115474 | 0 | nan | 0.995 | |
oprk_human | 72 | 1.45x45 | TM1 | V => L | missense | 8.483e-06 | 1 | 117876 | 0 | 0.05 | 0.995 | |
oprk_human | 72 | 1.45x45 | TM1 | V => L | missense | 1.697e-05 | 2 | 117876 | 0 | 0.05 | 0.995 | |
oprk_human | 71 | 1.44x44 | TM1 | V => A | missense | 8.492e-06 | 1 | 117762 | 0 | nan | 0.819 | |
oprk_human | 70 | 1.43x43 | TM1 | F => L | missense | 8.493e-06 | 1 | 117750 | 0 | 0.01 | 0.993 | |
oprk_human | 65 | 1.38x38 | TM1 | V => I | missense | 8.518e-06 | 1 | 117398 | 0 | nan | 0.99 | |
oprk_human | 63 | 1.36x36 | TM1 | T => M | missense | 5.969e-05 | 7 | 117278 | 0 | nan | 0.999 | |
oprk_human | 61 | 1.34x34 | TM1 | I => F | missense | 8.568e-06 | 1 | 116716 | 0 | nan | 0.998 | |
oprk_human | 57 | 1.30x30 | TM1 | A => T | missense | 8.652e-06 | 1 | 115584 | 0 | nan | 0.621 | |
oprk_human | 56 | N-term | P => Q | missense | 1.736e-05 | 2 | 115176 | 0 | nan | 0.948 | ||
oprk_human | 54 | N-term | I => N | missense | 1.747e-05 | 2 | 114464 | 0 | nan | 0.858 | ||
oprk_human | 54 | N-term | I => V | missense | 1.749e-05 | 2 | 114362 | 0 | nan | 0.022 | ||
oprk_human | 51 | N-term | P => S | missense | 8.925e-06 | 1 | 112044 | 0 | nan | 0.019 | ||
oprk_human | 48 | N-term | Q => K | missense | 1.826e-05 | 2 | 109540 | 0 | 0.72 | 0.15 | ||
oprk_human | 43 | N-term | G => R | missense | 9.55e-06 | 1 | 104716 | 0 | 0.17 | 0.799 | ||
oprk_human | 40 | N-term | G => S | missense | 9.559e-06 | 1 | 104618 | 0 | nan | 0.021 | ||
oprk_human | 40 | N-term | G => C | missense | 9.559e-06 | 1 | 104618 | 0 | nan | 0.878 | ||
oprk_human | 38 | N-term | S => N | missense | 9.725e-06 | 1 | 102824 | 0 | 0.45 | 0.011 | ||
oprk_human | 38 | N-term | S => G | missense | 1.944e-05 | 2 | 102898 | 1 | 0.46 | 0.003 | ||
oprk_human | 37 | N-term | D => Y | missense | 9.83e-06 | 1 | 101730 | 0 | nan | 0.95 | ||
oprk_human | 35 | N-term | E => K | missense | 2.022e-05 | 2 | 98910 | 0 | nan | 0.848 | ||
oprk_human | 34 | N-term | A => V | missense | 2.028e-05 | 2 | 98600 | 0 | nan | 0.111 | ||
oprk_human | 31 | N-term | P => L | missense | 2.101e-05 | 2 | 95208 | 0 | 0.09 | 0.73 | ||
oprk_human | 28 | N-term | A => D | missense | 3.298e-05 | 3 | 90958 | 0 | nan | 0.004 | ||
oprk_human | 28 | N-term | A => S | missense | 4.436e-05 | 4 | 90170 | 0 | nan | 0.006 | ||
oprk_human | 27 | N-term | S => R | missense | 5.61e-05 | 5 | 89134 | 0 | 0.07 | 0.444 | ||
oprk_human | 25 | N-term | N => K | missense | 1.16e-05 | 1 | 86238 | 0 | nan | 0.91 | PTM (N-linked Glycosylation) | |
oprk_human | 24 | N-term | P => R | missense | 0.000157 | 13 | 82822 | 0 | 0.07 | 0.148 | ||
oprk_human | 24 | N-term | P => A | missense | 1.246e-05 | 1 | 80288 | 0 | 0.26 | 0.819 | ||
oprk_human | 19 | N-term | S => R | missense | 0.0002353 | 16 | 67988 | 0 | nan | 0.105 | ||
oprk_human | 9 | N-term | R => H | missense | 2.278e-05 | 1 | 43900 | 0 | nan | 0.998 | ||
oprk_human | 9 | N-term | R => C | missense | 6.957e-05 | 3 | 43120 | 0 | nan | 0.998 | ||
oprk_human | 5 | N-term | I => M | missense | 9.785e-05 | 4 | 40880 | 0 | nan | 0.563 | ||
oprk_human | 5 | N-term | I => N | missense | 2.458e-05 | 1 | 40690 | 0 | nan | 0.656 |
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