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 |
oxyr_human | 324 | 7.48x48 | TM7 | C => Ter | stop gained | 8.25e-06 | 1 | 121212 | 0 | None | None | |
oxyr_human | 323 | 7.47x47 | TM7 | C => AlafsTer30 | frameshift | 8.251e-06 | 1 | 121198 | 0 | None | None | |
oxyr_human | 307 | 7.31x30 | TM7 | E => Ter | stop gained | 9.543e-06 | 1 | 104788 | 0 | None | None | |
oxyr_human | 187 | 45.50x50 | ECL2 | C => AlafsTer20 | frameshift | 8.45e-06 | 1 | 118348 | 0 | None | None | |
oxyr_human | 161 | 4.50x50 | TM4 | W => Ter | stop gained | 9.056e-06 | 1 | 110430 | 0 | None | None | |
oxyr_human | 128 | 3.41x41 | TM3 | Y => Ter | stop gained | 5.073e-05 | 5 | 98556 | 0 | None | None | |
oxyr_human | 119 | 3.32x32 | TM3 | Q => Ter | stop gained | 9.216e-06 | 1 | 108510 | 0 | None | None | LB (polar (hydrogen bond), Van der Waals) |
oxyr_human | 22 | N-term | G => AspfsTer25 | frameshift | 0.0001783 | 1 | 5608 | 0 | None | None | ||
oxyr_human | 389 | C-term | A => V | missense | 0.0001074 | 12 | 111722 | 0 | 0.14 | 0.0 | ||
oxyr_human | 388 | C-term | T => M | missense | 1.761e-05 | 2 | 113582 | 0 | 0.05 | 0.0 | ||
oxyr_human | 378 | C-term | S => P | missense | 8.407e-06 | 1 | 118942 | 0 | 0.19 | 0.0 | ||
oxyr_human | 377 | C-term | S => G | missense | 8.384e-06 | 1 | 119280 | 0 | 0.05 | 0.0 | ||
oxyr_human | 376 | C-term | R => H | missense | 0.0001256 | 15 | 119452 | 0 | 0.23 | 0.0 | ||
oxyr_human | 376 | C-term | R => G | missense | 0.0003093 | 37 | 119626 | 0 | 0.03 | 0.0 | ||
oxyr_human | 376 | C-term | R => C | missense | 2.508e-05 | 3 | 119626 | 0 | 0.01 | 0.0 | ||
oxyr_human | 374 | C-term | S => N | missense | 0.0001167 | 14 | 120016 | 0 | 0.22 | 0.0 | ||
oxyr_human | 373 | C-term | L => P | missense | 8.322e-06 | 1 | 120166 | 0 | 0.01 | 0.0 | ||
oxyr_human | 371 | C-term | F => C | missense | 8.306e-06 | 1 | 120400 | 0 | 0.04 | 0.0 | ||
oxyr_human | 368 | C-term | S => L | missense | 1.657e-05 | 2 | 120682 | 0 | 0.02 | 0.0 | ||
oxyr_human | 367 | C-term | N => S | missense | 0.0001573 | 19 | 120762 | 0 | 0.56 | 0.0 | ||
oxyr_human | 365 | C-term | K => R | missense | 2.481e-05 | 3 | 120896 | 0 | 0.69 | 0.0 | ||
oxyr_human | 364 | C-term | K => Q | missense | 8.268e-06 | 1 | 120950 | 0 | 0.25 | 0.0 | ||
oxyr_human | 360 | C-term | T => M | missense | 4.129e-05 | 5 | 121084 | 0 | 0.15 | 0.799 | ||
oxyr_human | 358 | C-term | G => R | missense | 1.651e-05 | 2 | 121122 | 0 | 0.49 | 0.011 | ||
oxyr_human | 357 | C-term | L => M | missense | 8.253e-06 | 1 | 121166 | 0 | 0.12 | 0.011 | ||
oxyr_human | 356 | C-term | R => H | missense | 8.253e-06 | 1 | 121174 | 0 | 0.07 | 0.066 | ||
oxyr_human | 356 | C-term | R => C | missense | 3.301e-05 | 4 | 121186 | 0 | 0.03 | 0.772 | ||
oxyr_human | 353 | C-term | K => R | missense | 8.249e-06 | 1 | 121226 | 0 | 0.33 | 0.002 | ||
oxyr_human | 351 | C-term | Y => H | missense | 2.474e-05 | 3 | 121240 | 0 | 0.53 | 0.002 | ||
oxyr_human | 350 | C-term | S => G | missense | 8.248e-06 | 1 | 121238 | 0 | 0.41 | 0.002 | ||
oxyr_human | 349 | 8.63x63 | H8 | A => T | missense | 3.299e-05 | 4 | 121240 | 0 | 0.52 | 0.004 | |
oxyr_human | 346 | 8.60x60 | H8 | C => R | missense | 8.248e-06 | 1 | 121246 | 0 | 0.02 | 0.168 | |
oxyr_human | 343 | 8.57x57 | H8 | R => C | missense | 8.247e-06 | 1 | 121254 | 0 | 0.23 | 0.006 | |
oxyr_human | 341 | 8.55x55 | H8 | V => M | missense | 1.649e-05 | 2 | 121252 | 0 | 0.34 | 0.012 | |
oxyr_human | 341 | 8.55x55 | H8 | V => L | missense | 8.247e-06 | 1 | 121252 | 0 | 1.0 | 0.002 | |
oxyr_human | 339 | 8.53x53 | H8 | E => K | missense | 0.001072 | 130 | 121250 | 0 | 0.01 | 0.018 | |
oxyr_human | 334 | 8.48x48 | H8 | G => D | missense | 3.299e-05 | 4 | 121264 | 0 | 0.0 | 0.411 | GP (contact) |
oxyr_human | 333 | 8.47x47 | H8 | T => M | missense | 3.299e-05 | 4 | 121266 | 0 | 0.0 | 0.772 | GP (contact) |
oxyr_human | 331 | 7.55x55 | TM7 | L => V | missense | 8.246e-06 | 1 | 121270 | 0 | 0.11 | 0.085 | GP (contact) |
oxyr_human | 330 | 7.54x54 | TM7 | M => I | missense | 8.247e-05 | 10 | 121262 | 0 | 0.0 | 0.181 | |
oxyr_human | 328 | 7.52x52 | TM7 | I => L | missense | 1.65e-05 | 2 | 121248 | 0 | 0.02 | 0.867 | |
oxyr_human | 326 | 7.50x50 | TM7 | P => S | missense | 8.249e-06 | 1 | 121226 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
oxyr_human | 321 | 7.45x45 | TM7 | N => K | missense | 2.476e-05 | 3 | 121178 | 0 | 0.0 | 0.978 | |
oxyr_human | 320 | 7.44x43 | TM7 | L => F | missense | 8.256e-06 | 1 | 121130 | 0 | 0.02 | 0.982 | SodiumPocket MicroSwitch |
oxyr_human | 314 | 7.38x37 | TM7 | V => I | missense | 1.654e-05 | 2 | 120884 | 0 | 0.05 | 0.025 | |
oxyr_human | 312 | 7.36x35 | TM7 | I => S | missense | 8.291e-06 | 1 | 120610 | 0 | 0.11 | 0.019 | LB (hydrophobic, Van der Waals) |
oxyr_human | 312 | 7.36x35 | TM7 | I => V | missense | 2.487e-05 | 3 | 120606 | 0 | 0.06 | 0.008 | LB (hydrophobic, Van der Waals) |
oxyr_human | 309 | 7.33x32 | TM7 | S => L | missense | 5.014e-05 | 6 | 119674 | 0 | 0.18 | 0.087 | |
oxyr_human | 308 | 7.32x31 | TM7 | A => G | missense | 2.516e-05 | 3 | 119214 | 0 | 0.38 | 0.012 | |
oxyr_human | 303 | ECL3 | N => K | missense | 9.368e-06 | 1 | 106748 | 0 | 0.27 | 0.08 | ||
oxyr_human | 303 | ECL3 | N => S | missense | 9.354e-06 | 1 | 106910 | 0 | 0.19 | 0.08 | ||
oxyr_human | 303 | ECL3 | N => D | missense | 0.0001401 | 15 | 107068 | 0 | 0.56 | 0.012 | ||
oxyr_human | 301 | ECL3 | D => N | missense | 2.781e-05 | 3 | 107856 | 0 | 0.0 | 0.911 | ||
oxyr_human | 299 | 6.59x59 | TM6 | V => A | missense | 9.186e-06 | 1 | 108862 | 0 | 0.18 | 0.245 | LB (Van der Waals) |
oxyr_human | 299 | 6.59x59 | TM6 | V => L | missense | 9.181e-06 | 1 | 108918 | 0 | 0.0 | 0.911 | LB (Van der Waals) |
oxyr_human | 295 | 6.55x55 | TM6 | Q => H | missense | 9.022e-06 | 1 | 110840 | 0 | 0.01 | 0.97 | LB (polar (hydrogen bond), Van der Waals) |
oxyr_human | 281 | 6.41x41 | TM6 | V => M | missense | 0.0005343 | 62 | 116040 | 0 | 0.0 | 0.999 | |
oxyr_human | 276 | 6.36x36 | TM6 | M => L | missense | 8.71e-06 | 1 | 114812 | 0 | 0.0 | 0.714 | GP (contact) |
oxyr_human | 274 | 6.34x34 | TM6 | V => I | missense | 8.762e-06 | 1 | 114128 | 0 | 0.02 | 0.607 | SodiumPocket MicroSwitch |
oxyr_human | 273 | 6.33x33 | TM6 | T => R | missense | 3.51e-05 | 4 | 113970 | 0 | 0.0 | 1.0 | GP (contact) |
oxyr_human | 273 | 6.33x33 | TM6 | T => M | missense | 8.774e-06 | 1 | 113970 | 0 | 0.0 | 0.998 | GP (contact) |
oxyr_human | 266 | 6.26x26 | TM6 | I => T | missense | 9.016e-06 | 1 | 110914 | 0 | 0.0 | 0.981 | GP (contact) |
oxyr_human | 265 | 6.25x25 | TM6 | L => I | missense | 9.117e-06 | 1 | 109686 | 0 | 0.16 | 0.123 | GP (contact) |
oxyr_human | 263 | ICL3 | V => I | missense | 2.756e-05 | 3 | 108872 | 0 | 0.22 | 0.1 | ||
oxyr_human | 259 | ICL3 | R => H | missense | 1.892e-05 | 2 | 105732 | 0 | 0.12 | 0.316 | ||
oxyr_human | 255 | ICL3 | V => G | missense | 3.906e-05 | 4 | 102418 | 0 | 0.43 | 0.004 | ||
oxyr_human | 255 | ICL3 | V => M | missense | 0.0001078 | 11 | 102028 | 0 | 0.13 | 0.028 | ||
oxyr_human | 252 | ICL3 | G => A | missense | 0.0005305 | 52 | 98016 | 0 | 0.91 | 0.004 | ||
oxyr_human | 251 | ICL3 | D => N | missense | 1.06e-05 | 1 | 94374 | 0 | 0.54 | 0.002 | ||
oxyr_human | 242 | ICL3 | E => Q | missense | 2.321e-05 | 2 | 86170 | 0 | 0.54 | 0.026 | ||
oxyr_human | 242 | ICL3 | E => K | missense | 1.16e-05 | 1 | 86170 | 0 | 0.79 | 0.004 | ||
oxyr_human | 241 | ICL3 | A => T | missense | 1.137e-05 | 1 | 87966 | 0 | 0.49 | 0.038 | ||
oxyr_human | 238 | 5.76x76 | TM5 | A => T | missense | 0.02325 | 2099 | 90280 | 29 | 0.53 | 0.073 | |
oxyr_human | 236 | 5.74x74 | TM5 | A => D | missense | 1.092e-05 | 1 | 91586 | 0 | 0.48 | 0.026 | GP (contact) |
oxyr_human | 233 | 5.71x71 | TM5 | L => I | missense | 1.058e-05 | 1 | 94534 | 0 | 0.39 | 0.058 | GP (contact) |
oxyr_human | 228 | 5.66x66 | TM5 | W => C | missense | 0.0001671 | 18 | 107716 | 0 | 0.36 | 0.448 | GP (contact) |
oxyr_human | 227 | 5.65x65 | TM5 | I => M | missense | 9.205e-06 | 1 | 108642 | 0 | 0.0 | 0.97 | GP (contact) |
oxyr_human | 224 | 5.62x62 | TM5 | S => I | missense | 2.701e-05 | 3 | 111054 | 0 | 0.0 | 0.117 | |
oxyr_human | 224 | 5.62x62 | TM5 | S => N | missense | 9.005e-06 | 1 | 111054 | 0 | 0.0 | 0.758 | |
oxyr_human | 221 | 5.59x59 | TM5 | G => S | missense | 0.0007651 | 87 | 113704 | 0 | 0.35 | 0.145 | |
oxyr_human | 218 | 5.56x56 | TM5 | A => T | missense | 0.149 | 17403 | 116824 | 1550 | 0.4 | 0.045 | |
oxyr_human | 215 | 5.53x53 | TM5 | V => L | missense | 8.476e-06 | 1 | 117980 | 0 | 0.03 | 0.101 | |
oxyr_human | 214 | 5.52x52 | TM5 | I => V | missense | 8.463e-06 | 1 | 118168 | 0 | 0.97 | 0.019 | |
oxyr_human | 212 | 5.50x50 | TM5 | P => Q | missense | 1.689e-05 | 2 | 118420 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
oxyr_human | 211 | 5.49x49 | TM5 | V => L | missense | 1.686e-05 | 2 | 118592 | 0 | 0.83 | 0.048 | |
oxyr_human | 211 | 5.49x49 | TM5 | V => L | missense | 8.432e-06 | 1 | 118592 | 0 | 0.83 | 0.048 | |
oxyr_human | 210 | 5.48x48 | TM5 | I => V | missense | 8.423e-06 | 1 | 118726 | 0 | 0.89 | 0.018 | |
oxyr_human | 209 | 5.47x47 | TM5 | Y => F | missense | 8.422e-06 | 1 | 118736 | 0 | 1.0 | 0.189 | SodiumPocket MicroSwitch |
oxyr_human | 208 | 5.46x461 | TM5 | V => I | missense | 8.416e-06 | 1 | 118822 | 0 | 1.0 | 0.245 | |
oxyr_human | 206 | 5.44x45 | TM5 | L => V | missense | 0.001791 | 213 | 118932 | 4 | 0.45 | 0.219 | |
oxyr_human | 204 | 5.42x43 | TM5 | I => F | missense | 8.403e-06 | 1 | 119000 | 0 | 0.02 | 0.065 | LB (hydrophobic, Van der Waals) |
oxyr_human | 203 | 5.41x42 | TM5 | W => R | missense | 8.401e-06 | 1 | 119032 | 0 | 0.0 | 0.999 | |
oxyr_human | 194 | ECL2 | P => T | missense | 8.416e-06 | 1 | 118824 | 0 | 0.01 | 0.913 | ||
oxyr_human | 192 | ECL2 | I => L | missense | 8.424e-06 | 1 | 118714 | 0 | 0.13 | 0.112 | ||
oxyr_human | 188 | 45.51x51 | ECL2 | W => C | missense | 8.443e-06 | 1 | 118444 | 0 | 0.0 | 0.999 | LB (hydrophobic, Van der Waals) |
oxyr_human | 188 | 45.51x51 | ECL2 | W => R | missense | 8.442e-06 | 1 | 118460 | 0 | 0.01 | 0.809 | LB (hydrophobic, Van der Waals) |
oxyr_human | 187 | 45.50x50 | ECL2 | C => F | missense | 2.535e-05 | 3 | 118348 | 0 | 0.0 | 1.0 | |
oxyr_human | 187 | 45.50x50 | ECL2 | C => G | missense | 8.448e-06 | 1 | 118376 | 0 | 0.0 | 1.0 | |
oxyr_human | 186 | ECL2 | D => N | missense | 8.456e-06 | 1 | 118254 | 0 | 0.0 | 0.964 | ||
oxyr_human | 186 | ECL2 | D => Y | missense | 8.456e-06 | 1 | 118254 | 0 | 0.0 | 0.999 | ||
oxyr_human | 180 | ECL2 | V => L | missense | 8.506e-06 | 1 | 117560 | 0 | 0.02 | 0.45 | ||
oxyr_human | 172 | 4.61x62 | TM4 | V => A | missense | 0.005501 | 633 | 115070 | 26 | 0.3 | 0.095 | |
oxyr_human | 164 | 4.53x53 | TM4 | C => G | missense | 9.119e-06 | 1 | 109656 | 0 | 0.02 | 0.058 | |
oxyr_human | 160 | 4.49x49 | TM4 | T => M | missense | 9.077e-06 | 1 | 110172 | 0 | 0.0 | 0.979 | |
oxyr_human | 154 | 4.43x43 | TM4 | R => S | missense | 2.829e-05 | 3 | 106042 | 0 | 0.1 | 0.264 | |
oxyr_human | 151 | 4.40x40 | TM4 | R => C | missense | 9.633e-06 | 1 | 103806 | 0 | 0.01 | 0.943 | |
oxyr_human | 150 | 4.39x39 | TM4 | R => S | missense | 2.925e-05 | 3 | 102550 | 0 | 0.01 | 0.304 | |
oxyr_human | 147 | ICL2 | S => L | missense | 2.04e-05 | 2 | 98052 | 0 | 0.01 | 0.152 | ||
oxyr_human | 146 | ICL2 | R => H | missense | 1.027e-05 | 1 | 97340 | 0 | 0.05 | 0.062 | ||
oxyr_human | 138 | 3.51x51 | TM3 | C => Y | missense | 1.069e-05 | 1 | 93510 | 0 | 1.0 | 0.024 | |
oxyr_human | 133 | 3.46x46 | TM3 | M => I | missense | 2.095e-05 | 2 | 95462 | 0 | 0.01 | 0.911 | |
oxyr_human | 122 | 3.35x35 | TM3 | G => D | missense | 9.559e-06 | 1 | 104618 | 0 | 0.0 | 0.994 | |
oxyr_human | 121 | 3.34x34 | TM3 | V => L | missense | 9.403e-06 | 1 | 106348 | 0 | 1.0 | 0.244 | |
oxyr_human | 117 | 3.30x30 | TM3 | Y => C | missense | 9.087e-06 | 1 | 110052 | 0 | 0.0 | 1.0 | |
oxyr_human | 116 | 3.29x29 | TM3 | K => E | missense | 9.02e-06 | 1 | 110868 | 0 | 0.0 | 0.996 | LB (polar (charge-assisted hydrogen bond)) |
oxyr_human | 115 | 3.28x28 | TM3 | V => I | missense | 8.978e-06 | 1 | 111384 | 0 | 0.13 | 0.478 | |
oxyr_human | 110 | 3.23x23 | TM3 | L => V | missense | 8.812e-06 | 1 | 113478 | 0 | 0.42 | 0.054 | |
oxyr_human | 108 | 3.21x21 | TM3 | P => A | missense | 0.0002546 | 29 | 113894 | 0 | 0.0 | 0.984 | |
oxyr_human | 106 | 23.51x51 | ECL1 | Y => C | missense | 8.753e-06 | 1 | 114250 | 0 | 0.06 | 0.981 | |
oxyr_human | 106 | 23.51x51 | ECL1 | Y => D | missense | 8.752e-06 | 1 | 114266 | 0 | 0.07 | 0.793 | |
oxyr_human | 101 | 2.66x65 | TM2 | I => V | missense | 8.732e-06 | 1 | 114524 | 0 | 0.36 | 0.714 | |
oxyr_human | 95 | 2.60x59 | TM2 | P => L | missense | 8.802e-06 | 1 | 113610 | 0 | 0.0 | 1.0 | |
oxyr_human | 87 | 2.52x52 | TM2 | V => E | missense | 8.931e-06 | 1 | 111964 | 0 | 0.0 | 0.858 | |
oxyr_human | 77 | 2.42x42 | TM2 | F => L | missense | 9.153e-06 | 1 | 109254 | 0 | 0.01 | 0.799 | |
oxyr_human | 68 | 12.48x48 | ICL1 | R => H | missense | 1.872e-05 | 2 | 106836 | 0 | 0.05 | 0.721 | |
oxyr_human | 68 | 12.48x48 | ICL1 | R => P | missense | 9.36e-06 | 1 | 106836 | 0 | 0.34 | 0.63 | |
oxyr_human | 68 | 12.48x48 | ICL1 | R => C | missense | 9.351e-06 | 1 | 106938 | 0 | 0.0 | 0.993 | |
oxyr_human | 65 | 1.58x58 | TM1 | R => H | missense | 9.414e-06 | 1 | 106220 | 0 | 1.0 | 0.006 | |
oxyr_human | 63 | 1.56x56 | TM1 | A => T | missense | 2.839e-05 | 3 | 105676 | 0 | 0.0 | 0.546 | |
oxyr_human | 56 | 1.49x49 | TM1 | G => W | missense | 6.602e-05 | 5 | 75732 | 0 | 0.0 | 1.0 | |
oxyr_human | 51 | 1.44x44 | TM1 | L => F | missense | 2.909e-05 | 2 | 68742 | 1 | 0.49 | 0.005 | |
oxyr_human | 47 | 1.40x40 | TM1 | C => Y | missense | 1.627e-05 | 1 | 61468 | 0 | 0.0 | 0.648 | |
oxyr_human | 46 | 1.39x39 | TM1 | L => P | missense | 3.324e-05 | 2 | 60174 | 0 | 0.0 | 0.999 | |
oxyr_human | 45 | 1.38x38 | TM1 | V => L | missense | 0.0005131 | 29 | 56516 | 0 | 0.02 | 0.661 | |
oxyr_human | 44 | 1.37x37 | TM1 | A => V | missense | 3.646e-05 | 2 | 54848 | 0 | 0.01 | 0.546 | |
oxyr_human | 40 | 1.33x33 | TM1 | R => S | missense | 2.301e-05 | 1 | 43468 | 0 | nan | 0.405 | |
oxyr_human | 38 | 1.31x31 | TM1 | L => V | missense | 2.825e-05 | 1 | 35400 | 0 | nan | 0.64 | LB (Van der Waals) |
oxyr_human | 30 | N-term | G => E | missense | 0.0001145 | 1 | 8736 | 0 | nan | 0.01 | ||
oxyr_human | 27 | N-term | R => P | missense | 0.0002762 | 1 | 3620 | 0 | nan | 0.005 |
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