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 |
drd3_human | 392 | 8.52x52 | H8 | K => SerfsTer? | frameshift | 8.64e-06 | 1 | 115746 | 0 | None | None | |
drd3_human | 299 | ICL3 | R => Ter | stop gained | 2.471e-05 | 3 | 121412 | 0 | None | None | ||
drd3_human | 234 | ICL3 | V => GlnfsTer12 | frameshift | 8.242e-06 | 1 | 121334 | 0 | None | None | ||
drd3_human | 226 | 5.76x76 | TM5 | R => Ter | stop gained | 8.239e-06 | 1 | 121370 | 0 | None | None | |
drd3_human | 396 | 8.56x56 | H8 | K => Q | missense | 8.728e-06 | 1 | 114574 | 0 | 0.0 | 0.984 | |
drd3_human | 395 | 8.55x55 | H8 | L => F | missense | 8.702e-06 | 1 | 114922 | 0 | 0.05 | 0.978 | |
drd3_human | 391 | 8.51x51 | H8 | R => Q | missense | 7.719e-05 | 9 | 116598 | 0 | 0.0 | 1.0 | GP (contact) |
drd3_human | 388 | 8.48x48 | H8 | I => T | missense | 8.428e-06 | 1 | 118654 | 0 | 0.37 | 0.003 | GP (contact) |
drd3_human | 378 | 7.48x48 | TM7 | L => P | missense | 8.269e-06 | 1 | 120938 | 0 | 0.0 | 0.997 | |
drd3_human | 377 | 7.47x47 | TM7 | A => V | missense | 8.265e-06 | 1 | 120998 | 0 | 0.0 | 0.999 | |
drd3_human | 377 | 7.47x47 | TM7 | A => T | missense | 1.653e-05 | 2 | 121008 | 0 | 0.0 | 0.999 | |
drd3_human | 375 | 7.45x45 | TM7 | N => D | missense | 8.259e-06 | 1 | 121078 | 0 | 0.0 | 0.999 | |
drd3_human | 374 | 7.44x43 | TM7 | V => M | missense | 4.129e-05 | 5 | 121094 | 0 | 0.02 | 0.278 | SodiumPocket MicroSwitch |
drd3_human | 374 | 7.44x43 | TM7 | V => L | missense | 8.258e-06 | 1 | 121094 | 0 | 0.09 | 0.267 | SodiumPocket MicroSwitch |
drd3_human | 372 | 7.42x41 | TM7 | G => D | missense | 8.255e-06 | 1 | 121146 | 0 | 0.0 | 1.0 | LB (Van der Waals) |
drd3_human | 368 | 7.38x37 | TM7 | T => M | missense | 1.651e-05 | 2 | 121160 | 0 | 0.08 | 0.979 | |
drd3_human | 362 | 7.32x31 | TM7 | P => S | missense | 8.265e-06 | 1 | 120998 | 0 | 0.03 | 0.984 | LB (hydrophobic, Van der Waals) |
drd3_human | 360 | ECL3 | V => A | missense | 8.272e-06 | 1 | 120894 | 0 | 0.06 | 0.769 | ||
drd3_human | 360 | ECL3 | V => M | missense | 1.655e-05 | 2 | 120858 | 0 | 0.0 | 0.958 | ||
drd3_human | 353 | 6.59x59 | TM6 | T => I | missense | 8.347e-06 | 1 | 119798 | 0 | 0.12 | 0.816 | |
drd3_human | 348 | 6.54x54 | TM6 | T => I | missense | 8.439e-06 | 1 | 118494 | 0 | 0.26 | 0.017 | |
drd3_human | 346 | 6.52x52 | TM6 | F => L | missense | 3.398e-05 | 4 | 117706 | 0 | 0.0 | 0.985 | LB (hydrophobic, Van der Waals, aromatic (edge-to-face), polar (hydrogen bond)) |
drd3_human | 340 | 6.46x46 | TM6 | V => F | missense | 4.329e-05 | 5 | 115494 | 0 | 0.31 | 0.771 | |
drd3_human | 326 | 6.32x32 | TM6 | K => E | missense | 8.245e-06 | 1 | 121282 | 0 | 0.0 | 0.999 | GP (contact) |
drd3_human | 323 | 6.29x29 | TM6 | R => Q | missense | 1.648e-05 | 2 | 121338 | 0 | 0.01 | 0.969 | GP (contact) |
drd3_human | 323 | 6.29x29 | TM6 | R => P | missense | 8.241e-06 | 1 | 121338 | 0 | 0.0 | 0.994 | GP (contact) |
drd3_human | 322 | 6.28x28 | TM6 | L => V | missense | 8.239e-06 | 1 | 121370 | 0 | 0.27 | 0.734 | GP (contact) |
drd3_human | 318 | 6.24x24 | TM6 | R => Q | missense | 8.238e-06 | 1 | 121386 | 0 | 0.04 | 0.94 | |
drd3_human | 315 | ICL3 | L => P | missense | 8.237e-06 | 1 | 121406 | 0 | 0.23 | 0.02 | ||
drd3_human | 314 | ICL3 | P => L | missense | 5.766e-05 | 7 | 121406 | 0 | 0.18 | 0.096 | ||
drd3_human | 314 | ICL3 | P => T | missense | 3.295e-05 | 4 | 121408 | 0 | 0.57 | 0.005 | ||
drd3_human | 305 | ICL3 | R => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.07 | 0.46 | ||
drd3_human | 299 | ICL3 | R => Q | missense | 8.236e-06 | 1 | 121412 | 0 | 0.8 | 0.005 | ||
drd3_human | 291 | ICL3 | A => E | missense | 1.647e-05 | 2 | 121412 | 0 | 0.62 | 0.313 | ||
drd3_human | 291 | ICL3 | A => V | missense | 3.295e-05 | 4 | 121412 | 0 | 0.26 | 0.27 | ||
drd3_human | 291 | ICL3 | A => T | missense | 1.647e-05 | 2 | 121412 | 0 | 0.48 | 0.037 | ||
drd3_human | 290 | ICL3 | I => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.42 | 0.001 | ||
drd3_human | 290 | ICL3 | I => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.45 | 0.023 | ||
drd3_human | 285 | ICL3 | S => F | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 0.789 | PTM (Phosphorylation) | |
drd3_human | 283 | ICL3 | R => Q | missense | 0.00014 | 17 | 121412 | 0 | 0.23 | 0.007 | ||
drd3_human | 281 | ICL3 | K => E | missense | 8.236e-06 | 1 | 121412 | 0 | 0.27 | 0.003 | ||
drd3_human | 275 | ICL3 | E => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.47 | 0.012 | ||
drd3_human | 274 | ICL3 | G => E | missense | 2.471e-05 | 3 | 121412 | 0 | 0.17 | 0.043 | ||
drd3_human | 266 | ICL3 | G => R | missense | 8.237e-06 | 1 | 121410 | 0 | 0.67 | 0.006 | ||
drd3_human | 262 | ICL3 | T => A | missense | 2.471e-05 | 3 | 121406 | 0 | 0.7 | 0.01 | ||
drd3_human | 254 | ICL3 | R => H | missense | 8.239e-06 | 1 | 121368 | 0 | 0.1 | 0.026 | ||
drd3_human | 254 | ICL3 | R => C | missense | 4.12e-05 | 5 | 121372 | 0 | 0.05 | 0.443 | ||
drd3_human | 247 | ICL3 | P => L | missense | 2.476e-05 | 3 | 121180 | 0 | 0.12 | 0.026 | ||
drd3_human | 240 | ICL3 | Q => H | missense | 1.649e-05 | 2 | 121298 | 0 | 0.2 | 0.017 | ||
drd3_human | 240 | ICL3 | Q => E | missense | 8.246e-06 | 1 | 121274 | 0 | 0.86 | 0.138 | ||
drd3_human | 239 | ICL3 | P => L | missense | 8.245e-06 | 1 | 121284 | 0 | 0.09 | 0.026 | ||
drd3_human | 237 | ICL3 | G => D | missense | 8.246e-06 | 1 | 121272 | 0 | 0.33 | 0.057 | ||
drd3_human | 231 | ICL3 | C => Y | missense | 8.241e-06 | 1 | 121344 | 0 | 0.05 | 0.601 | ||
drd3_human | 231 | ICL3 | C => S | missense | 0.0004944 | 60 | 121350 | 0 | 0.68 | 0.059 | ||
drd3_human | 230 | ICL3 | Q => P | missense | 8.24e-06 | 1 | 121352 | 0 | 0.18 | 0.499 | ||
drd3_human | 226 | 5.76x76 | TM5 | R => Q | missense | 8.239e-06 | 1 | 121370 | 0 | 0.23 | 0.924 | |
drd3_human | 223 | 5.73x73 | TM5 | I => T | missense | 8.238e-06 | 1 | 121394 | 0 | 0.49 | 0.026 | |
drd3_human | 220 | 5.70x70 | TM5 | R => Q | missense | 1.647e-05 | 2 | 121406 | 0 | 0.07 | 0.005 | |
drd3_human | 220 | 5.70x70 | TM5 | R => W | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.732 | |
drd3_human | 214 | 5.64x64 | TM5 | V => A | missense | 6.589e-05 | 8 | 121408 | 0 | 0.26 | 0.079 | GP (contact) |
drd3_human | 210 | 5.60x60 | TM5 | R => G | missense | 8.236e-06 | 1 | 121412 | 0 | 0.1 | 0.949 | |
drd3_human | 207 | 5.57x57 | TM5 | V => A | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.717 | |
drd3_human | 198 | 5.48x48 | TM5 | Y => C | missense | 8.238e-06 | 1 | 121386 | 0 | 0.0 | 0.988 | |
drd3_human | 190 | 5.40x41 | TM5 | I => V | missense | 8.25e-06 | 1 | 121206 | 0 | 0.82 | 0.009 | |
drd3_human | 178 | ECL2 | P => T | missense | 8.312e-06 | 1 | 120304 | 0 | 0.03 | 0.974 | ||
drd3_human | 170 | 4.62x63 | TM4 | F => L | missense | 1.649e-05 | 2 | 121316 | 0 | 0.05 | 0.053 | |
drd3_human | 157 | 4.49x49 | TM4 | V => I | missense | 2.472e-05 | 3 | 121382 | 0 | 0.01 | 0.343 | |
drd3_human | 155 | 4.47x47 | TM4 | T => M | missense | 1.648e-05 | 2 | 121382 | 0 | 0.0 | 0.813 | |
drd3_human | 151 | 4.43x43 | TM4 | A => T | missense | 0.0001318 | 16 | 121376 | 0 | 0.98 | 0.003 | |
drd3_human | 149 | 4.41x41 | TM4 | R => H | missense | 1.648e-05 | 2 | 121372 | 0 | 0.0 | 0.04 | |
drd3_human | 149 | 4.41x41 | TM4 | R => C | missense | 8.239e-06 | 1 | 121370 | 0 | 0.0 | 0.935 | |
drd3_human | 148 | 4.40x40 | TM4 | R => Q | missense | 4.12e-05 | 5 | 121368 | 0 | 0.05 | 0.31 | |
drd3_human | 148 | 4.40x40 | TM4 | R => W | missense | 8.239e-05 | 10 | 121370 | 0 | 0.0 | 0.966 | |
drd3_human | 142 | 34.57x57 | ICL2 | T => M | missense | 5.769e-05 | 7 | 121334 | 0 | 0.0 | 0.952 | GP (contact) |
drd3_human | 136 | 34.51x51 | ICL2 | V => I | missense | 0.0006021 | 73 | 121250 | 1 | 0.16 | 0.399 | GP (contact) |
drd3_human | 135 | 34.50x50 | ICL2 | P => H | missense | 8.248e-06 | 1 | 121246 | 0 | 0.0 | 1.0 | GP (contact) |
drd3_human | 133 | 3.55x55 | TM3 | V => I | missense | 8.252e-06 | 1 | 121190 | 0 | 0.04 | 0.47 | GP (contact) |
drd3_human | 124 | 3.46x46 | TM3 | I => T | missense | 8.24e-06 | 1 | 121360 | 0 | 0.0 | 1.0 | |
drd3_human | 116 | 3.38x38 | TM3 | A => D | missense | 1.648e-05 | 2 | 121388 | 0 | 0.0 | 1.0 | |
drd3_human | 102 | 3.24x24 | TM3 | C => F | missense | 3.296e-05 | 4 | 121374 | 0 | 0.66 | 0.766 | |
drd3_human | 101 | 3.23x23 | TM3 | I => V | missense | 8.239e-06 | 1 | 121370 | 0 | 0.29 | 0.0 | |
drd3_human | 100 | 3.22x22 | TM3 | R => P | missense | 8.24e-06 | 1 | 121366 | 0 | 0.02 | 1.0 | |
drd3_human | 99 | 3.21x21 | TM3 | S => N | missense | 8.24e-06 | 1 | 121360 | 0 | 0.05 | 0.069 | |
drd3_human | 93 | 2.68x67 | TM2 | G => D | missense | 8.245e-06 | 1 | 121280 | 0 | 0.06 | 1.0 | |
drd3_human | 93 | 2.68x67 | TM2 | G => S | missense | 8.245e-06 | 1 | 121284 | 0 | 0.0 | 1.0 | |
drd3_human | 89 | 2.64x63 | TM2 | L => Q | missense | 8.85e-06 | 1 | 113000 | 0 | 0.0 | 0.983 | LB (Van der Waals, hydrophobic) |
drd3_human | 80 | 2.55x55 | TM2 | T => I | missense | 8.558e-06 | 1 | 116846 | 0 | 0.16 | 0.03 | |
drd3_human | 79 | 2.54x54 | TM2 | A => G | missense | 8.529e-06 | 1 | 117244 | 0 | 0.02 | 0.364 | |
drd3_human | 76 | 2.51x51 | TM2 | L => F | missense | 4.219e-05 | 5 | 118500 | 0 | 0.0 | 1.0 | |
drd3_human | 68 | 2.43x43 | TM2 | V => I | missense | 1.656e-05 | 2 | 120764 | 0 | 1.0 | 0.434 | |
drd3_human | 62 | 2.37x37 | TM2 | T => N | missense | 8.264e-06 | 1 | 121004 | 0 | 0.0 | 0.999 | |
drd3_human | 60 | 12.50x50 | ICL1 | L => R | missense | 8.263e-06 | 1 | 121020 | 0 | 0.0 | 1.0 | |
drd3_human | 59 | 12.49x49 | ICL1 | A => V | missense | 2.479e-05 | 3 | 121018 | 0 | 0.01 | 0.006 | |
drd3_human | 58 | 12.48x48 | ICL1 | R => Q | missense | 0.0002148 | 26 | 121026 | 0 | 0.0 | 0.368 | |
drd3_human | 58 | 12.48x48 | ICL1 | R => W | missense | 1.653e-05 | 2 | 121018 | 0 | 0.0 | 0.984 | |
drd3_human | 57 | 1.60x60 | TM1 | E => K | missense | 8.262e-06 | 1 | 121038 | 0 | 0.0 | 0.999 | |
drd3_human | 52 | 1.55x55 | TM1 | M => I | missense | 8.265e-06 | 1 | 120994 | 0 | 0.12 | 0.0 | |
drd3_human | 52 | 1.55x55 | TM1 | M => T | missense | 0.0002975 | 36 | 120998 | 0 | 0.0 | 0.014 | |
drd3_human | 46 | 1.49x49 | TM1 | G => S | missense | 8.281e-06 | 1 | 120754 | 0 | 0.0 | 1.0 | |
drd3_human | 44 | 1.47x47 | TM1 | V => I | missense | 2.488e-05 | 3 | 120594 | 0 | 0.21 | 0.003 | |
drd3_human | 43 | 1.46x46 | TM1 | I => M | missense | 8.301e-06 | 1 | 120464 | 0 | 0.0 | 1.0 | |
drd3_human | 38 | 1.41x41 | TM1 | A => V | missense | 4.196e-05 | 5 | 119150 | 0 | 0.08 | 0.001 | |
drd3_human | 38 | 1.41x41 | TM1 | A => T | missense | 0.0008824 | 105 | 118992 | 2 | 0.05 | 0.001 | |
drd3_human | 35 | 1.38x38 | TM1 | S => F | missense | 8.562e-06 | 1 | 116794 | 0 | 0.17 | 0.004 | |
drd3_human | 30 | 1.33x33 | TM1 | A => G | missense | 9.3e-06 | 1 | 107532 | 0 | 0.03 | 0.128 | |
drd3_human | 29 | 1.32x32 | TM1 | H => L | missense | 9.409e-06 | 1 | 106280 | 0 | 0.04 | 0.012 | |
drd3_human | 27 | 1.30x30 | TM1 | R => H | missense | 1.967e-05 | 2 | 101662 | 0 | 0.6 | 0.003 | |
drd3_human | 27 | 1.30x30 | TM1 | R => C | missense | 1.018e-05 | 1 | 98258 | 0 | 0.07 | 0.655 | |
drd3_human | 26 | 1.29x29 | TM1 | A => D | missense | 5.112e-05 | 5 | 97812 | 0 | 0.62 | 0.12 | |
drd3_human | 26 | 1.29x29 | TM1 | A => T | missense | 1.025e-05 | 1 | 97598 | 0 | 0.55 | 0.003 | |
drd3_human | 21 | N-term | T => I | missense | 1.142e-05 | 1 | 87552 | 0 | 0.0 | 0.965 | ||
drd3_human | 18 | N-term | E => D | missense | 8.458e-05 | 7 | 82766 | 1 | 0.5 | 0.005 | ||
drd3_human | 17 | N-term | A => V | missense | 1.296e-05 | 1 | 77132 | 0 | 0.07 | 0.013 | ||
drd3_human | 16 | N-term | G => E | missense | 1.324e-05 | 1 | 75520 | 0 | 0.08 | 0.008 | ||
drd3_human | 14 | N-term | T => I | missense | 2.757e-05 | 2 | 72552 | 0 | 0.0 | 0.895 | ||
drd3_human | 6 | N-term | Q => H | missense | 2.384e-05 | 1 | 41952 | 0 | nan | 0.003 | ||
drd3_human | 2 | N-term | A => T | missense | 2.75e-05 | 1 | 36362 | 0 | nan | 0.028 |
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