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 |
adrb1_human | 167 | 34.54x54 | ICL2 | Q => Ter | stop gained | 8.325e-06 | 1 | 120114 | 0 | None | None | GP (contact) |
adrb1_human | 199 | ECL2 | W => Ter | stop gained | 8.763e-06 | 1 | 114110 | 0 | None | None | LB (polar (hydrogen bond with backbone), Van der Waals) | |
adrb1_human | 274 | ICL3 | S => Ter | stop gained | 8.56e-05 | 1 | 11682 | 0 | None | None | PTM (Phosphorylation) | |
adrb1_human | 370 | 7.46x46 | TM7 | S => Ter | stop gained | 8.977e-06 | 1 | 111396 | 0 | None | None | |
adrb1_human | 378 | 7.54x54 | TM7 | C => SerfsTer213 | frameshift | 8.961e-06 | 1 | 111592 | 0 | None | None | |
adrb1_human | 15 | N-term | N => S | missense | 0.02239 | 3 | 134 | 0 | 0.34 | 0.953 | ||
adrb1_human | 29 | N-term | A => E | missense | 0.0009881 | 1 | 1012 | 0 | 0.04 | 0.992 | ||
adrb1_human | 40 | N-term | A => D | missense | 0.0001774 | 1 | 5636 | 0 | 0.22 | 0.158 | ||
adrb1_human | 41 | N-term | S => W | missense | 0.0001577 | 1 | 6342 | 0 | 0.0 | 0.769 | ||
adrb1_human | 49 | N-term | S => G | missense | 0.304 | 13194 | 43402 | 1075 | 0.79 | 0.0 | ||
adrb1_human | 52 | 1.26x26 | TM1 | P => R | missense | 3.181e-05 | 2 | 62874 | 0 | 0.35 | 0.03 | |
adrb1_human | 52 | 1.26x26 | TM1 | P => L | missense | 1.59e-05 | 1 | 62874 | 0 | 0.32 | 0.0 | |
adrb1_human | 58 | 1.32x32 | TM1 | T => I | missense | 1.083e-05 | 1 | 92310 | 0 | 0.15 | 0.194 | |
adrb1_human | 66 | 1.40x40 | TM1 | A => G | missense | 9.114e-06 | 1 | 109720 | 0 | 0.16 | 0.019 | |
adrb1_human | 81 | 1.55x55 | TM1 | V => L | missense | 1.711e-05 | 2 | 116892 | 0 | 0.23 | 0.026 | |
adrb1_human | 83 | 1.57x57 | TM1 | I => N | missense | 8.498e-06 | 1 | 117674 | 0 | 0.0 | 1.0 | |
adrb1_human | 87 | 12.48x48 | ICL1 | P => L | missense | 8.431e-06 | 1 | 118606 | 0 | 0.02 | 0.412 | |
adrb1_human | 92 | 2.38x38 | TM2 | L => F | missense | 8.361e-06 | 1 | 119610 | 0 | 0.02 | 0.999 | |
adrb1_human | 93 | 2.39x39 | TM2 | T => A | missense | 8.355e-06 | 1 | 119692 | 0 | 0.0 | 0.996 | |
adrb1_human | 106 | 2.52x52 | TM2 | V => L | missense | 8.299e-06 | 1 | 120496 | 0 | 0.09 | 0.294 | |
adrb1_human | 113 | 2.59x58 | TM2 | P => S | missense | 8.292e-06 | 1 | 120600 | 0 | 0.02 | 0.999 | |
adrb1_human | 117 | 2.63x62 | TM2 | T => S | missense | 8.29e-06 | 1 | 120628 | 0 | 0.34 | 0.462 | LB (hydrophobic, aromatic (edge-to-face), Van der Waals) |
adrb1_human | 117 | 2.63x62 | TM2 | T => S | missense | 8.289e-06 | 1 | 120640 | 0 | 0.34 | 0.462 | LB (hydrophobic, aromatic (edge-to-face), Van der Waals) |
adrb1_human | 118 | 2.64x63 | TM2 | I => V | missense | 8.288e-06 | 1 | 120658 | 0 | 0.48 | 0.175 | LB (Van der Waals) |
adrb1_human | 127 | 3.21x21 | TM3 | G => S | missense | 8.286e-06 | 1 | 120680 | 0 | 0.01 | 1.0 | |
adrb1_human | 127 | 3.21x21 | TM3 | G => D | missense | 8.287e-06 | 1 | 120674 | 0 | 0.0 | 1.0 | |
adrb1_human | 129 | 3.23x23 | TM3 | F => L | missense | 8.286e-06 | 1 | 120686 | 0 | 0.03 | 0.517 | |
adrb1_human | 132 | 3.26x26 | TM3 | E => D | missense | 8.287e-06 | 1 | 120664 | 0 | 0.12 | 0.978 | |
adrb1_human | 134 | 3.28x28 | TM3 | W => R | missense | 8.289e-06 | 1 | 120638 | 0 | 0.0 | 1.0 | |
adrb1_human | 135 | 3.29x29 | TM3 | T => S | missense | 8.289e-06 | 1 | 120638 | 0 | 0.01 | 0.945 | |
adrb1_human | 143 | 3.37x37 | TM3 | T => P | missense | 1.658e-05 | 2 | 120614 | 0 | 0.0 | 0.999 | |
adrb1_human | 145 | 3.39x39 | TM3 | S => I | missense | 3.317e-05 | 4 | 120608 | 0 | 0.0 | 1.0 | |
adrb1_human | 151 | 3.45x45 | TM3 | V => A | missense | 8.294e-06 | 1 | 120574 | 0 | 0.17 | 0.998 | |
adrb1_human | 155 | 3.49x49 | TM3 | D => G | missense | 1.66e-05 | 2 | 120502 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
adrb1_human | 160 | 3.54x54 | TM3 | I => N | missense | 8.308e-06 | 1 | 120370 | 0 | 0.0 | 0.99 | GP (contact) |
adrb1_human | 165 | 34.52x52 | ICL2 | R => G | missense | 1.663e-05 | 2 | 120232 | 0 | 0.0 | 0.997 | GP (contact) |
adrb1_human | 172 | 4.39x39 | TM4 | R => P | missense | 8.379e-06 | 1 | 119344 | 0 | 0.0 | 0.921 | |
adrb1_human | 175 | 4.42x42 | TM4 | A => G | missense | 8.391e-06 | 1 | 119174 | 0 | 0.0 | 0.998 | |
adrb1_human | 176 | 4.43x43 | TM4 | R => Q | missense | 8.385e-06 | 1 | 119266 | 0 | 0.02 | 0.713 | |
adrb1_human | 181 | 4.48x48 | TM4 | T => A | missense | 8.383e-06 | 1 | 119284 | 0 | 0.22 | 0.025 | |
adrb1_human | 181 | 4.48x48 | TM4 | T => I | missense | 1.677e-05 | 2 | 119282 | 0 | 0.61 | 0.199 | |
adrb1_human | 187 | 4.54x54 | TM4 | A => V | missense | 3.356e-05 | 4 | 119194 | 0 | 0.06 | 0.874 | |
adrb1_human | 197 | 4.64x64 | TM4 | H => R | missense | 1.687e-05 | 2 | 118580 | 0 | 0.06 | 0.321 | |
adrb1_human | 197 | 4.64x64 | TM4 | H => L | missense | 8.433e-06 | 1 | 118580 | 0 | 0.0 | 0.321 | |
adrb1_human | 200 | ECL2 | R => L | missense | 8.689e-06 | 1 | 115090 | 0 | 0.04 | 0.629 | LB (Van der Waals, polar (charge-assisted hydrogen bond)) | |
adrb1_human | 201 | ECL2 | A => G | missense | 8.892e-06 | 1 | 112460 | 0 | 0.17 | 0.005 | LB (hydrophobic, Van der Waals, aromatic (edge-to-face), aromatic (face-to-edge), polar (hydrogen bond)) | |
adrb1_human | 205 | ECL2 | E => K | missense | 8.655e-06 | 1 | 115534 | 0 | 0.08 | 0.006 | ||
adrb1_human | 208 | ECL2 | R => C | missense | 8.568e-06 | 1 | 116720 | 0 | 0.09 | 0.646 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) | |
adrb1_human | 208 | ECL2 | R => P | missense | 8.562e-06 | 1 | 116794 | 0 | 0.12 | 0.29 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) | |
adrb1_human | 212 | ECL2 | D => N | missense | 8.458e-06 | 1 | 118236 | 0 | 0.24 | 0.075 | LB (Van der Waals) | |
adrb1_human | 215 | ECL2 | C => Y | missense | 8.415e-06 | 1 | 118840 | 0 | 0.0 | 0.999 | LB (Van der Waals, polar (hydrogen bond)) | |
adrb1_human | 219 | ECL2 | V => I | missense | 8.382e-06 | 1 | 119302 | 0 | 0.24 | 0.007 | ||
adrb1_human | 222 | 5.36x37 | TM5 | R => P | missense | 8.367e-06 | 1 | 119518 | 0 | 0.15 | 0.862 | |
adrb1_human | 222 | 5.36x37 | TM5 | R => Q | missense | 8.367e-06 | 1 | 119518 | 0 | 0.67 | 0.042 | |
adrb1_human | 230 | 5.44x45 | TM5 | V => A | missense | 1.67e-05 | 2 | 119744 | 0 | 0.01 | 0.297 | |
adrb1_human | 237 | 5.51x51 | TM5 | L => Q | missense | 8.375e-06 | 1 | 119398 | 0 | 0.0 | 0.987 | |
adrb1_human | 238 | 5.52x52 | TM5 | C => S | missense | 5.864e-05 | 7 | 119378 | 0 | 0.03 | 0.003 | |
adrb1_human | 239 | 5.53x53 | TM5 | I => V | missense | 8.386e-06 | 1 | 119246 | 0 | 1.0 | 0.0 | |
adrb1_human | 241 | 5.55x55 | TM5 | A => D | missense | 8.425e-06 | 1 | 118694 | 0 | 0.0 | 0.452 | |
adrb1_human | 243 | 5.57x57 | TM5 | V => L | missense | 8.443e-06 | 1 | 118440 | 0 | 0.0 | 0.373 | |
adrb1_human | 246 | 5.60x60 | TM5 | R => Q | missense | 8.513e-06 | 1 | 117474 | 0 | 0.0 | 0.994 | |
adrb1_human | 247 | 5.61x61 | TM5 | V => M | missense | 8.532e-06 | 1 | 117204 | 0 | 0.0 | 0.968 | GP (contact) |
adrb1_human | 249 | 5.63x63 | TM5 | R => G | missense | 8.595e-06 | 1 | 116348 | 0 | 0.05 | 0.874 | |
adrb1_human | 254 | 5.68x68 | TM5 | Q => H | missense | 8.88e-06 | 1 | 112612 | 0 | 0.15 | 0.891 | GP (contact) |
adrb1_human | 260 | 5.74x74 | TM5 | S => N | missense | 1.905e-05 | 2 | 104970 | 0 | 0.01 | 0.204 | PTM (Phosphorylation) GP (contact) |
adrb1_human | 261 | ICL3 | C => Y | missense | 9.612e-06 | 1 | 104040 | 0 | 0.03 | 0.982 | ||
adrb1_human | 267 | ICL3 | G => C | missense | 1.097e-05 | 1 | 91190 | 0 | 0.06 | 0.025 | ||
adrb1_human | 267 | ICL3 | G => R | missense | 2.193e-05 | 2 | 91190 | 0 | 0.37 | 0.406 | ||
adrb1_human | 267 | ICL3 | G => S | missense | 1.097e-05 | 1 | 91190 | 0 | 0.8 | 0.003 | ||
adrb1_human | 268 | ICL3 | G => D | missense | 1.296e-05 | 1 | 77172 | 0 | 0.26 | 0.156 | ||
adrb1_human | 270 | ICL3 | A => T | missense | 0.002791 | 208 | 74534 | 1 | 0.59 | 0.002 | ||
adrb1_human | 270 | ICL3 | A => E | missense | 1.403e-05 | 1 | 71276 | 0 | 1.0 | 0.005 | ||
adrb1_human | 275 | ICL3 | P => S | missense | 8.486e-05 | 1 | 11784 | 0 | 0.73 | 0.736 | ||
adrb1_human | 304 | ICL3 | G => A | missense | 0.0005388 | 1 | 1856 | 0 | 0.03 | 0.234 | ||
adrb1_human | 313 | 6.24x24 | TM6 | R => P | missense | 0.0001752 | 2 | 11418 | 0 | 0.0 | 0.961 | |
adrb1_human | 316 | 6.27x27 | TM6 | A => S | missense | 6.771e-05 | 1 | 14768 | 0 | 0.06 | 0.962 | |
adrb1_human | 318 | 6.29x29 | TM6 | R => C | missense | 5.751e-05 | 1 | 17388 | 0 | 0.0 | 0.901 | GP (contact) |
adrb1_human | 319 | 6.30x30 | TM6 | E => D | missense | 4.776e-05 | 1 | 20936 | 0 | 0.05 | 0.995 | SodiumPocket MicroSwitch |
adrb1_human | 330 | 6.41x41 | TM6 | M => V | missense | 2.043e-05 | 1 | 48940 | 0 | 0.0 | 0.981 | LB (hydrophobic, Van der Waals, aromatic (face-to-edge), polar (hydrogen bond)) |
adrb1_human | 332 | 6.43x43 | TM6 | V => D | missense | 3.498e-05 | 2 | 57182 | 0 | 0.0 | 0.95 | |
adrb1_human | 336 | 6.47x47 | TM6 | C => Y | missense | 1.421e-05 | 1 | 70350 | 0 | 0.0 | 0.999 | |
adrb1_human | 343 | 6.54x54 | TM6 | A => V | missense | 1.142e-05 | 1 | 87566 | 0 | 1.0 | 0.037 | |
adrb1_human | 345 | 6.56x56 | TM6 | V => M | missense | 1.105e-05 | 1 | 90468 | 0 | 0.0 | 0.985 | |
adrb1_human | 348 | 6.59x59 | TM6 | A => S | missense | 8.45e-05 | 8 | 94678 | 0 | 0.1 | 0.555 | |
adrb1_human | 348 | 6.59x59 | TM6 | A => T | missense | 1.056e-05 | 1 | 94678 | 0 | 0.09 | 0.297 | |
adrb1_human | 353 | ECL3 | L => M | missense | 9.848e-06 | 1 | 101548 | 0 | 0.07 | 0.671 | ||
adrb1_human | 354 | ECL3 | V => M | missense | 9.743e-06 | 1 | 102634 | 0 | 0.01 | 0.982 | ||
adrb1_human | 358 | 7.34x33 | TM7 | L => F | missense | 9.335e-06 | 1 | 107120 | 0 | 0.0 | 0.989 | |
adrb1_human | 362 | 7.38x37 | TM7 | F => L | missense | 9.16e-06 | 1 | 109172 | 0 | 1.0 | 0.066 | |
adrb1_human | 364 | 7.40x39 | TM7 | W => C | missense | 9.093e-06 | 1 | 109972 | 0 | 0.0 | 0.999 | |
adrb1_human | 370 | 7.46x46 | TM7 | S => P | missense | 8.976e-06 | 1 | 111410 | 0 | 0.0 | 0.999 | |
adrb1_human | 371 | 7.47x47 | TM7 | A => V | missense | 8.965e-06 | 1 | 111544 | 0 | 0.0 | 0.999 | |
adrb1_human | 373 | 7.49x49 | TM7 | N => D | missense | 8.949e-06 | 1 | 111744 | 0 | 0.0 | 0.997 | SodiumPocket MicroSwitch |
adrb1_human | 380 | 8.47x47 | H8 | S => R | missense | 2.683e-05 | 3 | 111808 | 0 | 0.0 | 0.999 | GP (contact) |
adrb1_human | 382 | 8.49x49 | H8 | D => G | missense | 0.0005634 | 63 | 111822 | 1 | 0.02 | 0.999 | GP (contact) |
adrb1_human | 384 | 8.51x51 | H8 | R => H | missense | 8.95e-06 | 1 | 111726 | 0 | 0.0 | 0.999 | GP (contact) |
adrb1_human | 384 | 8.51x51 | H8 | R => L | missense | 8.95e-06 | 1 | 111726 | 0 | 0.0 | 0.999 | GP (contact) |
adrb1_human | 385 | 8.52x52 | H8 | K => E | missense | 1.788e-05 | 2 | 111858 | 0 | 0.25 | 0.542 | |
adrb1_human | 390 | 8.57x57 | H8 | L => P | missense | 1.885e-05 | 2 | 106120 | 0 | 0.0 | 0.994 | |
adrb1_human | 391 | 8.58x58 | H8 | L => F | missense | 9.484e-06 | 1 | 105438 | 0 | 0.0 | 0.999 | |
adrb1_human | 392 | 8.59x59 | H8 | C => R | missense | 9.543e-06 | 1 | 104792 | 0 | 0.04 | 0.999 | |
adrb1_human | 392 | 8.59x59 | H8 | C => Y | missense | 9.606e-06 | 1 | 104102 | 0 | 0.04 | 0.999 | |
adrb1_human | 393 | C-term | C => W | missense | 9.739e-06 | 1 | 102678 | 0 | 0.04 | 0.823 | ||
adrb1_human | 394 | C-term | A => S | missense | 9.805e-06 | 1 | 101984 | 0 | 0.35 | 0.254 | ||
adrb1_human | 395 | C-term | R => C | missense | 9.947e-06 | 1 | 100534 | 0 | 0.0 | 0.994 | ||
adrb1_human | 395 | C-term | R => L | missense | 2.991e-05 | 3 | 100292 | 0 | 0.0 | 0.963 | ||
adrb1_human | 395 | C-term | R => H | missense | 0.0001097 | 11 | 100292 | 0 | 0.01 | 0.987 | ||
adrb1_human | 397 | C-term | A => T | missense | 2.043e-05 | 2 | 97888 | 0 | 0.03 | 0.398 | ||
adrb1_human | 399 | C-term | R => H | missense | 2.096e-05 | 2 | 95402 | 0 | 0.08 | 0.891 | ||
adrb1_human | 401 | C-term | R => P | missense | 1.087e-05 | 1 | 91986 | 0 | 0.2 | 0.104 | ||
adrb1_human | 403 | C-term | A => V | missense | 1.164e-05 | 1 | 85926 | 0 | 0.14 | 0.012 | ||
adrb1_human | 404 | C-term | T => A | missense | 1.319e-05 | 1 | 75832 | 0 | 0.75 | 0.0 | PTM (Phosphorylation) | |
adrb1_human | 408 | C-term | R => P | missense | 2.542e-05 | 1 | 39344 | 0 | 0.25 | 0.001 | ||
adrb1_human | 409 | C-term | P => L | missense | 3.986e-05 | 1 | 25090 | 0 | 0.11 | 0.085 | ||
adrb1_human | 410 | C-term | R => H | missense | 5.548e-05 | 1 | 18024 | 0 | 0.12 | 0.955 | ||
adrb1_human | 416 | C-term | A => T | missense | 0.0009785 | 1 | 1022 | 0 | 0.54 | 0.069 |
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