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 |
adrb2_human | 32 | 1.31x31 | TM1 | W => Ter | stop gained | 8.237e-06 | 1 | 121402 | 0 | None | None | |
adrb2_human | 152 | 4.44x44 | TM4 | V => SerfsTer3 | frameshift | 8.236e-06 | 1 | 121412 | 0 | None | None | |
adrb2_human | 172 | 4.64x64 | TM4 | H => ThrfsTer42 | frameshift | 8.236e-06 | 1 | 121412 | 0 | None | None | |
adrb2_human | 263 | 6.25x25 | TM6 | K => SerfsTer4 | frameshift | 8.238e-06 | 1 | 121388 | 0 | None | None | GP (contact) |
adrb2_human | 3 | N-term | Q => K | missense | 4.961e-05 | 6 | 120936 | 0 | nan | 0.024 | ||
adrb2_human | 4 | N-term | P => H | missense | 2.479e-05 | 3 | 121022 | 0 | nan | 0.001 | ||
adrb2_human | 5 | N-term | G => R | missense | 8.26e-06 | 1 | 121066 | 0 | nan | 0.415 | ||
adrb2_human | 7 | N-term | G => S | missense | 1.651e-05 | 2 | 121164 | 0 | 0.78 | 0.078 | ||
adrb2_human | 7 | N-term | G => C | missense | 1.651e-05 | 2 | 121164 | 0 | 0.04 | 0.731 | ||
adrb2_human | 7 | N-term | G => V | missense | 8.253e-06 | 1 | 121164 | 0 | 0.18 | 0.261 | ||
adrb2_human | 8 | N-term | S => R | missense | 8.25e-06 | 1 | 121206 | 0 | 0.02 | 0.397 | ||
adrb2_human | 9 | N-term | A => T | missense | 1.65e-05 | 2 | 121232 | 0 | 0.39 | 0.01 | ||
adrb2_human | 15 | N-term | N => D | missense | 8.242e-06 | 1 | 121330 | 0 | 0.08 | 0.214 | ||
adrb2_human | 15 | N-term | N => S | missense | 0.000239 | 29 | 121336 | 0 | 0.29 | 0.018 | ||
adrb2_human | 16 | N-term | G => R | missense | 0.4204 | 51009 | 121346 | 11077 | 0.17 | 0.143 | ||
adrb2_human | 19 | N-term | A => V | missense | 8.238e-06 | 1 | 121384 | 0 | 0.3 | 0.0 | ||
adrb2_human | 19 | N-term | A => E | missense | 8.238e-06 | 1 | 121384 | 0 | 0.46 | 0.001 | ||
adrb2_human | 25 | N-term | T => M | missense | 8.238e-06 | 1 | 121394 | 0 | 0.01 | 0.24 | ||
adrb2_human | 27 | 1.26x26 | TM1 | E => Q | missense | 0.6834 | 82949 | 121380 | 29384 | 0.47 | 0.008 | |
adrb2_human | 30 | 1.29x29 | TM1 | E => G | missense | 8.237e-06 | 1 | 121402 | 0 | 0.04 | 0.025 | |
adrb2_human | 35 | 1.34x34 | TM1 | G => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.09 | 0.554 | |
adrb2_human | 39 | 1.38x38 | TM1 | V => I | missense | 2.471e-05 | 3 | 121406 | 0 | 0.2 | 0.0 | |
adrb2_human | 40 | 1.39x39 | TM1 | M => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.02 | 0.448 | |
adrb2_human | 41 | 1.40x40 | TM1 | S => P | missense | 8.237e-06 | 1 | 121408 | 0 | 0.02 | 0.6 | |
adrb2_human | 43 | 1.42x42 | TM1 | I => M | missense | 2.471e-05 | 3 | 121404 | 0 | 0.09 | 0.957 | |
adrb2_human | 44 | 1.43x43 | TM1 | V => I | missense | 5.766e-05 | 7 | 121404 | 0 | 0.14 | 0.145 | |
adrb2_human | 54 | 1.53x53 | TM1 | V => I | missense | 1.648e-05 | 2 | 121392 | 0 | 0.01 | 0.999 | LB (hydrophobic) |
adrb2_human | 60 | 1.59x59 | TM1 | K => N | missense | 8.241e-06 | 1 | 121350 | 0 | 0.0 | 0.441 | |
adrb2_human | 62 | 12.48x48 | ICL1 | E => D | missense | 8.242e-06 | 1 | 121326 | 0 | 0.09 | 0.032 | |
adrb2_human | 66 | 2.37x37 | TM2 | T => M | missense | 8.247e-06 | 1 | 121250 | 0 | 0.0 | 0.994 | |
adrb2_human | 69 | 2.40x40 | TM2 | N => S | missense | 0.0009157 | 111 | 121220 | 1 | 0.0 | 0.884 | LB (polar (hydrogen bond), Van der Waals) |
adrb2_human | 73 | 2.44x44 | TM2 | T => S | missense | 1.65e-05 | 2 | 121184 | 0 | 0.08 | 0.015 | |
adrb2_human | 74 | 2.45x45 | TM2 | S => L | missense | 8.252e-06 | 1 | 121180 | 0 | 0.0 | 1.0 | |
adrb2_human | 82 | 2.53x53 | TM2 | M => K | missense | 8.257e-06 | 1 | 121106 | 0 | 0.0 | 0.998 | |
adrb2_human | 83 | 2.54x54 | TM2 | G => C | missense | 8.258e-06 | 1 | 121092 | 0 | 0.0 | 0.999 | |
adrb2_human | 83 | 2.54x54 | TM2 | G => D | missense | 8.258e-06 | 1 | 121092 | 0 | 0.0 | 0.998 | |
adrb2_human | 88 | 2.59x58 | TM2 | P => H | missense | 8.257e-06 | 1 | 121104 | 0 | 0.0 | 0.998 | |
adrb2_human | 91 | 2.62x61 | TM2 | A => T | missense | 8.258e-06 | 1 | 121098 | 0 | 0.01 | 0.995 | |
adrb2_human | 95 | 2.66x65 | TM2 | L => V | missense | 3.3e-05 | 4 | 121214 | 0 | 1.0 | 0.009 | |
adrb2_human | 97 | 2.68x67 | TM2 | K => N | missense | 8.243e-06 | 1 | 121308 | 0 | 0.27 | 0.003 | |
adrb2_human | 98 | 23.49x49 | ECL1 | M => T | missense | 8.242e-06 | 1 | 121328 | 0 | 0.97 | 0.005 | |
adrb2_human | 116 | 3.35x35 | TM3 | C => R | missense | 2.471e-05 | 3 | 121412 | 0 | 0.0 | 1.0 | |
adrb2_human | 128 | 3.47x47 | TM3 | A => S | missense | 0.0001812 | 22 | 121412 | 0 | 0.04 | 0.871 | |
adrb2_human | 136 | 3.55x55 | TM3 | T => I | missense | 8.236e-06 | 1 | 121412 | 0 | 0.03 | 0.69 | GP (contact) |
adrb2_human | 140 | 34.52x52 | ICL2 | K => E | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.04 | GP (contact) |
adrb2_human | 140 | 34.52x52 | ICL2 | K => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.731 | GP (contact) |
adrb2_human | 151 | 4.43x43 | TM4 | R => W | missense | 1.647e-05 | 2 | 121412 | 0 | 0.07 | 0.96 | |
adrb2_human | 156 | 4.48x48 | TM4 | M => I | missense | 1.647e-05 | 2 | 121412 | 0 | 0.23 | 0.001 | |
adrb2_human | 157 | 4.49x49 | TM4 | V => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.998 | |
adrb2_human | 164 | 4.56x56 | TM4 | T => I | missense | 0.009455 | 1148 | 121412 | 18 | 1.0 | 0.008 | |
adrb2_human | 172 | 4.64x64 | TM4 | H => R | missense | 8.237e-06 | 1 | 121410 | 0 | 0.1 | 0.515 | |
adrb2_human | 178 | ECL2 | H => Q | missense | 9.06e-05 | 11 | 121412 | 0 | 0.07 | 0.017 | ||
adrb2_human | 179 | ECL2 | Q => E | missense | 2.471e-05 | 3 | 121412 | 0 | 1.0 | 0.0 | ||
adrb2_human | 179 | ECL2 | Q => R | missense | 1.647e-05 | 2 | 121412 | 0 | 0.31 | 0.0 | ||
adrb2_human | 186 | ECL2 | A => T | missense | 1.647e-05 | 2 | 121412 | 0 | 0.4 | 0.001 | ||
adrb2_human | 186 | ECL2 | A => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.74 | 0.001 | ||
adrb2_human | 187 | ECL2 | N => S | missense | 0.0004859 | 59 | 121412 | 0 | 0.05 | 0.007 | ||
adrb2_human | 213 | 5.52x52 | TM5 | V => A | missense | 2.471e-05 | 3 | 121412 | 0 | 0.06 | 0.142 | |
adrb2_human | 216 | 5.55x55 | TM5 | V => I | missense | 0.0001483 | 18 | 121412 | 1 | 1.0 | 0.007 | |
adrb2_human | 220 | 5.59x59 | TM5 | S => C | missense | 0.002512 | 305 | 121412 | 5 | 0.18 | 0.909 | |
adrb2_human | 220 | 5.59x59 | TM5 | S => F | missense | 8.236e-06 | 1 | 121412 | 0 | 0.48 | 0.869 | |
adrb2_human | 221 | 5.60x60 | TM5 | R => S | missense | 2.471e-05 | 3 | 121412 | 0 | 0.0 | 0.188 | |
adrb2_human | 228 | 5.67x67 | TM5 | R => K | missense | 8.236e-06 | 1 | 121412 | 0 | 1.0 | 0.001 | GP (contact) |
adrb2_human | 233 | 5.72x72 | TM5 | I => T | missense | 2.471e-05 | 3 | 121396 | 0 | 0.0 | 1.0 | GP (contact) |
adrb2_human | 235 | 5.74x74 | TM5 | K => R | missense | 8.238e-06 | 1 | 121396 | 0 | 0.56 | 0.012 | GP (contact) |
adrb2_human | 243 | ICL3 | Q => K | missense | 8.239e-06 | 1 | 121374 | 0 | 0.12 | 0.023 | ||
adrb2_human | 244 | ICL3 | N => K | missense | 8.239e-06 | 1 | 121374 | 0 | 0.28 | 0.719 | ||
adrb2_human | 247 | ICL3 | Q => H | missense | 0.0001236 | 15 | 121372 | 0 | 0.13 | 0.179 | ||
adrb2_human | 252 | ICL3 | G => E | missense | 8.239e-06 | 1 | 121370 | 0 | 0.08 | 0.049 | ||
adrb2_human | 253 | ICL3 | R => W | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 0.096 | ||
adrb2_human | 257 | ICL3 | G => R | missense | 8.239e-06 | 1 | 121368 | 0 | 0.68 | 0.196 | ||
adrb2_human | 259 | ICL3 | R => C | missense | 8.239e-06 | 1 | 121372 | 0 | 0.0 | 0.973 | ||
adrb2_human | 259 | ICL3 | R => H | missense | 4.119e-05 | 5 | 121374 | 0 | 0.01 | 0.96 | ||
adrb2_human | 265 | 6.27x27 | TM6 | C => F | missense | 8.238e-06 | 1 | 121394 | 0 | 0.35 | 0.007 | LB (Van der Waals) |
adrb2_human | 276 | 6.38x38 | TM6 | G => S | missense | 1.647e-05 | 2 | 121406 | 0 | 0.02 | 0.975 | |
adrb2_human | 290 | 6.52x52 | TM6 | F => V | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | LB (aromatic (edge-to-face), Van der Waals, hydrophobic) |
adrb2_human | 292 | 6.54x54 | TM6 | V => I | missense | 1.647e-05 | 2 | 121412 | 0 | 0.1 | 0.264 | |
adrb2_human | 292 | 6.54x54 | TM6 | V => D | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.987 | |
adrb2_human | 296 | 6.58x58 | TM6 | H => R | missense | 8.236e-06 | 1 | 121412 | 0 | 0.42 | 0.358 | |
adrb2_human | 297 | 6.59x59 | TM6 | V => M | missense | 3.295e-05 | 4 | 121410 | 0 | 0.0 | 0.801 | |
adrb2_human | 300 | ECL3 | D => N | missense | 8.237e-06 | 1 | 121410 | 0 | 0.09 | 0.006 | ||
adrb2_human | 301 | ECL3 | N => S | missense | 8.237e-06 | 1 | 121410 | 0 | 0.54 | 0.021 | ||
adrb2_human | 304 | 7.31x30 | TM7 | R => C | missense | 1.647e-05 | 2 | 121410 | 0 | 0.02 | 0.034 | |
adrb2_human | 307 | 7.34x33 | TM7 | V => L | missense | 8.237e-06 | 1 | 121408 | 0 | 1.0 | 0.002 | |
adrb2_human | 320 | 7.47x47 | TM7 | G => D | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.19 | |
adrb2_human | 324 | 7.51x51 | TM7 | L => F | missense | 8.237e-06 | 1 | 121404 | 0 | 0.04 | 0.351 | |
adrb2_human | 325 | 7.52x52 | TM7 | I => T | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.997 | |
adrb2_human | 328 | 7.55x55 | TM7 | R => W | missense | 8.238e-06 | 1 | 121394 | 0 | 0.0 | 0.942 | LB (Van der Waals) GP (contact) |
adrb2_human | 328 | 7.55x55 | TM7 | R => Q | missense | 3.295e-05 | 4 | 121396 | 0 | 0.0 | 0.198 | LB (Van der Waals) GP (contact) |
adrb2_human | 328 | 7.55x55 | TM7 | R => L | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.055 | LB (Van der Waals) GP (contact) |
adrb2_human | 329 | 8.47x47 | H8 | S => N | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.026 | LB (polar (hydrogen bond), Van der Waals) GP (contact) |
adrb2_human | 333 | 8.51x51 | H8 | R => S | missense | 1.648e-05 | 2 | 121392 | 0 | 0.0 | 0.988 | GP (contact) |
adrb2_human | 334 | 8.52x52 | H8 | I => N | missense | 8.238e-06 | 1 | 121394 | 0 | 0.29 | 0.001 | |
adrb2_human | 340 | 8.58x58 | H8 | L => P | missense | 1.648e-05 | 2 | 121390 | 0 | 0.0 | 0.995 | |
adrb2_human | 343 | C-term | R => H | missense | 8.238e-06 | 1 | 121384 | 0 | 0.14 | 0.022 | ||
adrb2_human | 346 | C-term | S => P | missense | 8.238e-06 | 1 | 121394 | 0 | 0.19 | 0.265 | PTM (Phosphorylation (PRKCD)) | |
adrb2_human | 349 | C-term | A => S | missense | 2.471e-05 | 3 | 121392 | 0 | 0.81 | 0.008 | ||
adrb2_human | 357 | C-term | N => S | missense | 8.239e-06 | 1 | 121374 | 0 | 0.27 | 0.004 | LB (hydrophobic, Van der Waals, aromatic (edge-to-face)) | |
adrb2_human | 358 | C-term | G => R | missense | 6.592e-05 | 8 | 121358 | 0 | 0.02 | 0.006 | ||
adrb2_human | 364 | C-term | S => N | missense | 8.246e-06 | 1 | 121278 | 0 | 0.74 | 0.001 | PTM (Phosphorylation) | |
adrb2_human | 367 | C-term | H => D | missense | 8.268e-06 | 1 | 120948 | 0 | 0.36 | 0.021 | ||
adrb2_human | 369 | C-term | E => Q | missense | 8.297e-06 | 1 | 120530 | 0 | 0.56 | 0.013 | ||
adrb2_human | 370 | C-term | Q => K | missense | 0.0001495 | 18 | 120416 | 0 | 0.23 | 0.0 | ||
adrb2_human | 370 | C-term | Q => E | missense | 8.305e-06 | 1 | 120416 | 0 | 0.51 | 0.0 | ||
adrb2_human | 374 | C-term | N => K | missense | 8.395e-06 | 1 | 119112 | 0 | 0.62 | 0.003 | ||
adrb2_human | 375 | C-term | K => R | missense | 8.401e-06 | 1 | 119032 | 0 | 0.23 | 0.013 | LB (hydrophobic, Van der Waals) | |
adrb2_human | 382 | C-term | P => R | missense | 8.548e-06 | 1 | 116988 | 0 | 0.27 | 0.009 | PTM (Hydroxylation) | |
adrb2_human | 383 | C-term | G => D | missense | 8.562e-06 | 1 | 116790 | 0 | 0.35 | 0.079 | LB (Van der Waals) | |
adrb2_human | 384 | C-term | T => K | missense | 1.717e-05 | 2 | 116458 | 0 | 0.91 | 0.014 | PTM (Phosphorylation (GRK5)) | |
adrb2_human | 384 | C-term | T => M | missense | 8.587e-06 | 1 | 116458 | 0 | 0.13 | 0.003 | PTM (Phosphorylation (GRK5)) | |
adrb2_human | 386 | C-term | D => V | missense | 1.722e-05 | 2 | 116138 | 0 | 0.02 | 0.138 | ||
adrb2_human | 389 | C-term | G => S | missense | 8.648e-06 | 1 | 115640 | 0 | 0.75 | 0.0 | ||
adrb2_human | 392 | C-term | G => S | missense | 3.473e-05 | 4 | 115176 | 0 | nan | 0.437 | ||
adrb2_human | 394 | C-term | V => M | missense | 8.706e-06 | 1 | 114858 | 0 | nan | 0.569 | ||
adrb2_human | 395 | C-term | P => A | missense | 8.724e-06 | 1 | 114622 | 0 | nan | 0.013 | PTM (Hydroxylation) | |
adrb2_human | 397 | C-term | D => N | missense | 8.745e-06 | 1 | 114350 | 0 | 0.58 | 0.0 | ||
adrb2_human | 406 | C-term | C => F | missense | 8.77e-06 | 1 | 114030 | 0 | nan | 0.006 | ||
adrb2_human | 407 | C-term | S => G | missense | 3.509e-05 | 4 | 113996 | 0 | nan | 0.01 | PTM (Phosphorylation (GRK5)) | |
adrb2_human | 407 | C-term | S => N | missense | 1.755e-05 | 2 | 113974 | 0 | nan | 0.0 | PTM (Phosphorylation (GRK5)) |
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