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 |
aa2br_human | 104 | 3.51x51 | TM3 | Y => Ter | stop gained | 3.76e-05 | 2 | 53196 | 0 | None | None | |
aa2br_human | 121 | 4.41x41 | TM4 | R => Ter | stop gained | 6.6e-05 | 8 | 121204 | 0 | None | None | |
aa2br_human | 125 | 4.45x45 | TM4 | V => SerfsTer14 | frameshift | 8.243e-06 | 1 | 121318 | 0 | None | None | |
aa2br_human | 137 | 4.57x57 | TM4 | G => Ter | stop gained | 8.237e-06 | 1 | 121408 | 0 | None | None | |
aa2br_human | 214 | 5.70x70 | TM5 | Q => Ter | stop gained | 3.295e-05 | 4 | 121400 | 0 | None | None | |
aa2br_human | 292 | 7.55x55 | TM7 | Y => Ter | stop gained | 4.979e-05 | 6 | 120496 | 0 | None | None | GP (contact) |
aa2br_human | 312 | 8.65x65 | H8 | Q => Ter | stop gained | 8.326e-06 | 1 | 120100 | 0 | None | None | |
aa2br_human | 319 | C-term | N => GlufsTer17 | frameshift | 8.336e-06 | 1 | 119964 | 0 | None | None | ||
aa2br_human | 8 | 1.33x33 | TM1 | A => E | missense | 0.000711 | 4 | 5626 | 0 | 0.11 | 0.322 | |
aa2br_human | 9 | 1.34x34 | TM1 | L => P | missense | 0.0003059 | 2 | 6538 | 0 | 0.04 | 0.006 | |
aa2br_human | 30 | 1.55x55 | TM1 | A => T | missense | 1.734e-05 | 1 | 57670 | 0 | 0.0 | 0.467 | |
aa2br_human | 30 | 1.55x55 | TM1 | A => D | missense | 1.69e-05 | 1 | 59168 | 0 | 0.0 | 0.845 | |
aa2br_human | 30 | 1.55x55 | TM1 | A => V | missense | 3.38e-05 | 2 | 59168 | 0 | 0.01 | 0.028 | |
aa2br_human | 33 | 1.58x58 | TM1 | G => D | missense | 2.671e-05 | 2 | 74888 | 0 | 0.2 | 0.98 | |
aa2br_human | 35 | 1.60x60 | TM1 | A => V | missense | 0.002522 | 218 | 86428 | 4 | 0.0 | 0.058 | |
aa2br_human | 35 | 1.60x60 | TM1 | A => G | missense | 1.157e-05 | 1 | 86428 | 0 | 0.0 | 0.062 | |
aa2br_human | 37 | 12.49x49 | ICL1 | T => S | missense | 0.0002127 | 20 | 94026 | 1 | 0.99 | 0.002 | |
aa2br_human | 38 | 12.50x50 | ICL1 | L => R | missense | 1.017e-05 | 1 | 98312 | 0 | 0.0 | 1.0 | |
aa2br_human | 39 | 12.51x51 | ICL1 | Q => R | missense | 9.798e-06 | 1 | 102064 | 0 | 0.47 | 0.086 | |
aa2br_human | 43 | 2.40x40 | TM2 | N => T | missense | 0.0001902 | 21 | 110382 | 0 | 0.08 | 0.997 | |
aa2br_human | 43 | 2.40x40 | TM2 | N => S | missense | 9.059e-06 | 1 | 110382 | 0 | 0.07 | 0.99 | |
aa2br_human | 44 | 2.41x41 | TM2 | Y => C | missense | 8.961e-06 | 1 | 111594 | 0 | 0.27 | 0.999 | |
aa2br_human | 47 | 2.44x44 | TM2 | V => G | missense | 2.626e-05 | 3 | 114222 | 0 | 0.01 | 0.746 | |
aa2br_human | 58 | 2.55x55 | TM2 | L => V | missense | 8.517e-06 | 1 | 117408 | 0 | 1.0 | 0.989 | |
aa2br_human | 61 | 2.58x57 | TM2 | I => M | missense | 8.494e-06 | 1 | 117726 | 0 | 0.22 | 0.962 | |
aa2br_human | 62 | 2.59x58 | TM2 | P => L | missense | 8.5e-06 | 1 | 117652 | 0 | 0.02 | 1.0 | |
aa2br_human | 66 | 2.63x62 | TM2 | T => I | missense | 8.539e-06 | 1 | 117116 | 0 | 0.4 | 0.014 | |
aa2br_human | 70 | 2.67x66 | TM2 | G => V | missense | 1.726e-05 | 2 | 115866 | 0 | 0.0 | 0.977 | |
aa2br_human | 71 | 23.50x50 | ECL1 | F => L | missense | 8.656e-06 | 1 | 115528 | 0 | 0.92 | 0.06 | |
aa2br_human | 72 | 23.51x51 | ECL1 | C => Y | missense | 0.0002441 | 28 | 114730 | 2 | 0.33 | 0.767 | |
aa2br_human | 72 | 23.51x51 | ECL1 | C => F | missense | 8.716e-06 | 1 | 114730 | 0 | 0.24 | 0.691 | |
aa2br_human | 74 | 3.21x21 | TM3 | D => V | missense | 8.864e-06 | 1 | 112814 | 0 | 0.2 | 0.575 | |
aa2br_human | 75 | 3.22x22 | TM3 | F => L | missense | 9.129e-06 | 1 | 109540 | 0 | 0.01 | 0.493 | |
aa2br_human | 77 | 3.24x24 | TM3 | G => S | missense | 9.089e-06 | 1 | 110022 | 0 | 1.0 | 0.001 | |
aa2br_human | 79 | 3.26x26 | TM3 | L => V | missense | 1.869e-05 | 2 | 107018 | 0 | 0.0 | 0.889 | |
aa2br_human | 82 | 3.29x29 | TM3 | A => T | missense | 9.825e-06 | 1 | 101778 | 0 | 0.1 | 0.999 | |
aa2br_human | 85 | 3.32x32 | TM3 | V => M | missense | 2.074e-05 | 2 | 96434 | 0 | 0.26 | 0.79 | LB (Van der Waals) |
aa2br_human | 85 | 3.32x32 | TM3 | V => L | missense | 1.037e-05 | 1 | 96434 | 0 | 0.38 | 0.569 | LB (Van der Waals) |
aa2br_human | 90 | 3.37x37 | TM3 | Q => H | missense | 6.967e-05 | 6 | 86126 | 0 | 0.29 | 0.145 | |
aa2br_human | 92 | 3.39x39 | TM3 | S => F | missense | 1.231e-05 | 1 | 81254 | 0 | 0.0 | 1.0 | |
aa2br_human | 94 | 3.41x41 | TM3 | F => L | missense | 1.299e-05 | 1 | 76986 | 0 | 1.0 | 0.074 | |
aa2br_human | 96 | 3.43x43 | TM3 | L => F | missense | 0.0006907 | 51 | 73834 | 0 | 0.0 | 0.87 | |
aa2br_human | 98 | 3.45x45 | TM3 | A => V | missense | 2.994e-05 | 2 | 66800 | 0 | 0.0 | 0.55 | |
aa2br_human | 99 | 3.46x46 | TM3 | V => A | missense | 1.531e-05 | 1 | 65306 | 0 | 0.0 | 0.63 | |
aa2br_human | 107 | 3.54x54 | TM3 | I => S | missense | 2.11e-05 | 1 | 47386 | 0 | 0.0 | 0.036 | GP (contact) |
aa2br_human | 113 | 34.53x53 | ICL2 | Y => F | missense | 8.413e-06 | 1 | 118870 | 0 | 0.0 | 0.95 | GP (contact) |
aa2br_human | 115 | 34.55x55 | ICL2 | S => I | missense | 8.356e-06 | 1 | 119676 | 0 | 0.36 | 0.893 | GP (contact) |
aa2br_human | 120 | 4.40x40 | TM4 | T => A | missense | 8.256e-06 | 1 | 121122 | 0 | 0.24 | 0.001 | |
aa2br_human | 120 | 4.40x40 | TM4 | T => S | missense | 8.254e-06 | 1 | 121154 | 0 | 0.15 | 0.002 | |
aa2br_human | 121 | 4.41x41 | TM4 | R => Q | missense | 1.65e-05 | 2 | 121232 | 0 | 0.0 | 0.026 | |
aa2br_human | 122 | 4.42x42 | TM4 | A => P | missense | 8.246e-06 | 1 | 121266 | 0 | 0.01 | 1.0 | |
aa2br_human | 123 | 4.43x43 | TM4 | R => S | missense | 1.649e-05 | 2 | 121318 | 0 | 0.4 | 0.999 | |
aa2br_human | 125 | 4.45x45 | TM4 | V => F | missense | 8.241e-06 | 1 | 121338 | 0 | 0.05 | 0.834 | |
aa2br_human | 126 | 4.46x46 | TM4 | I => F | missense | 8.241e-06 | 1 | 121348 | 0 | 0.0 | 0.827 | |
aa2br_human | 126 | 4.46x46 | TM4 | I => T | missense | 2.472e-05 | 3 | 121350 | 0 | 0.0 | 0.184 | |
aa2br_human | 127 | 4.47x47 | TM4 | A => G | missense | 8.24e-06 | 1 | 121352 | 0 | 0.69 | 0.008 | |
aa2br_human | 135 | 4.55x55 | TM4 | G => R | missense | 4.942e-05 | 6 | 121406 | 0 | 0.03 | 0.724 | |
aa2br_human | 136 | 4.56x56 | TM4 | I => F | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.999 | |
aa2br_human | 138 | 4.58x58 | TM4 | L => W | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 1.0 | |
aa2br_human | 141 | 4.61x61 | TM4 | F => S | missense | 1.647e-05 | 2 | 121410 | 0 | 0.0 | 0.931 | |
aa2br_human | 143 | 4.63x63 | TM4 | G => R | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.996 | |
aa2br_human | 149 | ECL2 | S => R | missense | 8.257e-06 | 1 | 121110 | 0 | 0.31 | 0.003 | ||
aa2br_human | 150 | ECL2 | A => G | missense | 8.257e-06 | 1 | 121110 | 0 | 0.43 | 0.492 | ||
aa2br_human | 152 | ECL2 | N => T | missense | 8.425e-06 | 1 | 118692 | 0 | 0.35 | 0.027 | ||
aa2br_human | 155 | ECL2 | T => R | missense | 8.237e-06 | 1 | 121402 | 0 | 0.24 | 0.435 | ||
aa2br_human | 157 | ECL2 | P => R | missense | 8.237e-06 | 1 | 121402 | 0 | 0.13 | 0.373 | ||
aa2br_human | 162 | ECL2 | T => P | missense | 8.237e-06 | 1 | 121402 | 0 | 0.28 | 0.195 | ||
aa2br_human | 162 | ECL2 | T => M | missense | 1.647e-05 | 2 | 121402 | 0 | 0.23 | 0.005 | ||
aa2br_human | 171 | 45.50x50 | ECL2 | C => Y | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.743 | |
aa2br_human | 171 | 45.50x50 | ECL2 | C => S | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.414 | |
aa2br_human | 174 | ECL2 | E => Q | missense | 5.766e-05 | 7 | 121400 | 0 | 0.08 | 0.998 | ||
aa2br_human | 180 | 5.36x38 | TM5 | S => C | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.954 | |
aa2br_human | 182 | 5.38x40 | TM5 | M => V | missense | 2.471e-05 | 3 | 121398 | 0 | 0.1 | 0.779 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
aa2br_human | 182 | 5.38x40 | TM5 | M => I | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.881 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
aa2br_human | 186 | 5.42x43 | TM5 | N => S | missense | 3.295e-05 | 4 | 121398 | 0 | 0.3 | 0.087 | LB (Van der Waals) |
aa2br_human | 188 | 5.44x45 | TM5 | F => S | missense | 1.647e-05 | 2 | 121398 | 0 | 0.0 | 0.889 | |
aa2br_human | 193 | 5.49x49 | TM5 | P => S | missense | 1.647e-05 | 2 | 121398 | 0 | 0.07 | 0.364 | |
aa2br_human | 193 | 5.49x49 | TM5 | P => H | missense | 8.237e-06 | 1 | 121400 | 0 | 0.06 | 0.985 | |
aa2br_human | 196 | 5.52x52 | TM5 | L => F | missense | 8.237e-06 | 1 | 121400 | 0 | 0.05 | 0.697 | |
aa2br_human | 197 | 5.53x53 | TM5 | I => T | missense | 8.237e-06 | 1 | 121402 | 0 | 0.01 | 0.962 | |
aa2br_human | 200 | 5.56x56 | TM5 | V => G | missense | 8.237e-06 | 1 | 121402 | 0 | 0.7 | 0.226 | |
aa2br_human | 203 | 5.59x59 | TM5 | I => M | missense | 8.237e-05 | 10 | 121402 | 0 | 0.1 | 0.024 | |
aa2br_human | 206 | 5.62x62 | TM5 | F => C | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 1.0 | |
aa2br_human | 207 | 5.63x63 | TM5 | L => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.57 | 0.011 | |
aa2br_human | 207 | 5.63x63 | TM5 | L => P | missense | 8.237e-06 | 1 | 121402 | 0 | 0.04 | 0.687 | |
aa2br_human | 208 | 5.64x64 | TM5 | V => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.16 | 0.974 | GP (contact) |
aa2br_human | 212 | 5.68x68 | TM5 | Q => E | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.969 | GP (contact) |
aa2br_human | 214 | 5.70x70 | TM5 | Q => R | missense | 8.237e-06 | 1 | 121400 | 0 | 0.78 | 0.014 | |
aa2br_human | 215 | 5.71x71 | TM5 | R => H | missense | 8.237e-06 | 1 | 121400 | 0 | 0.05 | 0.007 | GP (contact) |
aa2br_human | 219 | ICL3 | M => V | missense | 2.471e-05 | 3 | 121396 | 0 | 0.32 | 0.006 | ||
aa2br_human | 223 | 6.24x24 | TM6 | R => W | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.988 | |
aa2br_human | 228 | 6.29x29 | TM6 | R => W | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.027 | GP (contact) |
aa2br_human | 228 | 6.29x29 | TM6 | R => Q | missense | 8.237e-06 | 1 | 121398 | 0 | 0.07 | 0.09 | GP (contact) |
aa2br_human | 236 | 6.37x37 | TM6 | L => V | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.999 | GP (contact) |
aa2br_human | 241 | 6.42x42 | TM6 | G => R | missense | 8.237e-06 | 1 | 121408 | 0 | 0.07 | 0.998 | |
aa2br_human | 247 | 6.48x48 | TM6 | W => S | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.675 | SodiumPocket MicroSwitch LB (hydrophobic, Van der Waals) |
aa2br_human | 251 | 6.52x52 | TM6 | H => R | missense | 8.238e-06 | 1 | 121394 | 0 | 0.01 | 0.997 | LB (polar (hydrogen bond), Van der Waals) |
aa2br_human | 256 | 6.57x57 | TM6 | V => I | missense | 8.241e-06 | 1 | 121340 | 0 | 1.0 | 0.003 | |
aa2br_human | 260 | 6.61x61 | TM6 | Q => H | missense | 8.249e-06 | 1 | 121224 | 0 | 0.59 | 0.009 | |
aa2br_human | 265 | ECL3 | K => E | missense | 8.255e-06 | 1 | 121138 | 0 | 1.0 | 0.328 | ||
aa2br_human | 267 | ECL3 | K => E | missense | 8.258e-06 | 1 | 121102 | 0 | 0.84 | 0.458 | ||
aa2br_human | 269 | 7.32x31 | TM7 | K => M | missense | 8.26e-06 | 1 | 121066 | 0 | 0.14 | 1.0 | |
aa2br_human | 269 | 7.32x31 | TM7 | K => N | missense | 8.261e-06 | 1 | 121048 | 0 | 0.41 | 1.0 | |
aa2br_human | 275 | 7.38x37 | TM7 | A => G | missense | 8.272e-06 | 1 | 120894 | 0 | 0.46 | 0.934 | |
aa2br_human | 276 | 7.39x38 | TM7 | I => V | missense | 1.654e-05 | 2 | 120890 | 0 | 0.0 | 0.958 | LB (hydrophobic, Van der Waals) |
aa2br_human | 277 | 7.40x39 | TM7 | L => R | missense | 1.655e-05 | 2 | 120842 | 0 | 0.0 | 0.988 | |
aa2br_human | 281 | 7.44x43 | TM7 | A => V | missense | 8.281e-06 | 1 | 120752 | 0 | 0.1 | 0.977 | SodiumPocket MicroSwitch |
aa2br_human | 288 | 7.51x51 | TM7 | I => T | missense | 8.292e-06 | 1 | 120598 | 0 | 0.0 | 0.017 | |
aa2br_human | 290 | 7.53x53 | TM7 | Y => H | missense | 8.295e-06 | 1 | 120556 | 0 | 0.0 | 0.463 | SodiumPocket MicroSwitch |
aa2br_human | 293 | 7.56x56 | TM7 | R => W | missense | 0.0001162 | 14 | 120484 | 0 | 0.0 | 0.022 | GP (contact) |
aa2br_human | 295 | 8.48x48 | H8 | R => Q | missense | 9.965e-05 | 12 | 120422 | 0 | 0.44 | 0.001 | GP (contact) |
aa2br_human | 296 | 8.49x49 | H8 | D => H | missense | 8.306e-06 | 1 | 120396 | 0 | 0.02 | 0.999 | GP (contact) |
aa2br_human | 296 | 8.49x49 | H8 | D => G | missense | 0.0001578 | 19 | 120376 | 0 | 0.01 | 0.998 | GP (contact) |
aa2br_human | 298 | 8.51x51 | H8 | R => C | missense | 8.309e-06 | 1 | 120352 | 0 | 0.0 | 0.001 | GP (contact) |
aa2br_human | 298 | 8.51x51 | H8 | R => H | missense | 6.648e-05 | 8 | 120328 | 0 | 0.01 | 0.001 | GP (contact) |
aa2br_human | 305 | 8.58x58 | H8 | I => N | missense | 8.318e-06 | 1 | 120224 | 0 | 0.01 | 0.845 | |
aa2br_human | 307 | 8.60x60 | H8 | R => G | missense | 8.318e-06 | 1 | 120216 | 0 | 0.1 | 0.11 | |
aa2br_human | 307 | 8.60x60 | H8 | R => K | missense | 3.328e-05 | 4 | 120204 | 0 | 0.41 | 0.075 | |
aa2br_human | 308 | 8.61x61 | H8 | Y => C | missense | 8.321e-06 | 1 | 120180 | 0 | 0.21 | 0.051 | |
aa2br_human | 310 | 8.63x63 | H8 | L => F | missense | 1.665e-05 | 2 | 120136 | 0 | 0.04 | 0.845 | |
aa2br_human | 313 | 8.66x66 | H8 | A => G | missense | 8.329e-06 | 1 | 120058 | 0 | 0.2 | 0.021 | |
aa2br_human | 320 | C-term | G => A | missense | 1.669e-05 | 2 | 119846 | 0 | 0.11 | 0.437 | ||
aa2br_human | 321 | C-term | Q => R | missense | 8.346e-06 | 1 | 119818 | 0 | 0.26 | 0.045 | ||
aa2br_human | 323 | C-term | G => R | missense | 8.351e-06 | 1 | 119740 | 0 | 0.36 | 0.016 | ||
aa2br_human | 325 | C-term | Q => R | missense | 9.201e-05 | 11 | 119550 | 0 | 0.15 | 0.045 | ||
aa2br_human | 327 | C-term | A => T | missense | 1.676e-05 | 2 | 119358 | 0 | 0.46 | 0.001 | ||
aa2br_human | 327 | C-term | A => D | missense | 8.382e-06 | 1 | 119308 | 0 | 0.06 | 0.073 | ||
aa2br_human | 329 | C-term | G => S | missense | 1.679e-05 | 2 | 119138 | 1 | 0.82 | 0.0 |
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