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 |
drd4_human | 62 | 1.60x60 | TM1 | E => Ter | stop gained | 6.277e-05 | 1 | 15930 | 0 | None | None | |
drd4_human | 79 | 2.49x49 | TM2 | A => SerfsTer21 | frameshift | 0.009316 | 199 | 21360 | 1 | None | None | |
drd4_human | 84 | 2.54x54 | TM2 | A => LeufsTer20 | frameshift | 0.0001405 | 3 | 21350 | 0 | None | None | |
drd4_human | 172 | 4.62x63 | TM4 | C => Ter | stop gained | 1.602e-05 | 1 | 62406 | 0 | None | None | |
drd4_human | 369 | 6.58x58 | TM6 | Q => Ter | stop gained | 8.507e-06 | 1 | 117552 | 0 | None | None | |
drd4_human | 404 | 8.47x47 | H8 | N => LysfsTer46 | frameshift | 2.523e-05 | 3 | 118896 | 0 | None | None | GP (contact) |
drd4_human | 418 | C-term | C => TrpfsTer31 | frameshift | 8.479e-06 | 1 | 117944 | 0 | None | None | ||
drd4_human | 35 | 1.33x33 | TM1 | A => V | missense | 0.000664 | 2 | 3012 | 0 | 0.5 | 0.0 | |
drd4_human | 41 | 1.39x39 | TM1 | G => V | missense | 0.0001211 | 1 | 8260 | 0 | 0.06 | 0.0 | |
drd4_human | 47 | 1.45x45 | TM1 | A => T | missense | 0.0001733 | 2 | 11544 | 0 | 0.37 | 0.0 | |
drd4_human | 50 | 1.48x48 | TM1 | A => S | missense | 8.201e-05 | 1 | 12194 | 0 | 0.48 | 0.0 | |
drd4_human | 53 | 1.51x51 | TM1 | S => L | missense | 7.595e-05 | 1 | 13166 | 0 | 0.46 | 0.0 | |
drd4_human | 62 | 1.60x60 | TM1 | E => K | missense | 6.277e-05 | 1 | 15930 | 0 | 0.0 | 0.0 | |
drd4_human | 62 | 1.60x60 | TM1 | E => D | missense | 6.182e-05 | 1 | 16176 | 0 | 0.0 | 0.0 | |
drd4_human | 63 | 12.48x48 | ICL1 | R => P | missense | 6.06e-05 | 1 | 16502 | 0 | 0.0 | 0.0 | PTM (Methylation) |
drd4_human | 63 | 12.48x48 | ICL1 | R => H | missense | 6.06e-05 | 1 | 16502 | 0 | 0.0 | 0.0 | PTM (Methylation) |
drd4_human | 67 | 2.37x37 | TM2 | T => M | missense | 0.0006367 | 12 | 18848 | 1 | 0.0 | 0.0 | |
drd4_human | 68 | 2.38x38 | TM2 | P => A | missense | 5.177e-05 | 1 | 19316 | 0 | 0.44 | 0.0 | |
drd4_human | 72 | 2.42x42 | TM2 | F => L | missense | 4.789e-05 | 1 | 20880 | 0 | 0.36 | 0.0 | |
drd4_human | 73 | 2.43x43 | TM2 | I => N | missense | 4.74e-05 | 1 | 21098 | 0 | 0.0 | 0.0 | |
drd4_human | 74 | 2.44x44 | TM2 | V => M | missense | 9.417e-05 | 2 | 21238 | 0 | 0.01 | 0.0 | |
drd4_human | 77 | 2.47x47 | TM2 | A => V | missense | 4.811e-05 | 1 | 20784 | 0 | 0.0 | 0.0 | |
drd4_human | 78 | 2.48x48 | TM2 | A => T | missense | 0.001919 | 41 | 21360 | 0 | 0.06 | 0.0 | |
drd4_human | 79 | 2.49x49 | TM2 | A => S | missense | 9.65e-05 | 2 | 20726 | 0 | 0.11 | 0.0 | |
drd4_human | 81 | 2.51x51 | TM2 | L => V | missense | 4.757e-05 | 1 | 21022 | 0 | 0.0 | 0.0 | |
drd4_human | 81 | 2.51x51 | TM2 | L => H | missense | 4.759e-05 | 1 | 21014 | 0 | 0.0 | 0.0 | |
drd4_human | 81 | 2.51x51 | TM2 | L => P | missense | 4.759e-05 | 1 | 21014 | 0 | 0.03 | 0.0 | |
drd4_human | 82 | 2.52x52 | TM2 | L => F | missense | 4.787e-05 | 1 | 20892 | 0 | 0.01 | 0.0 | |
drd4_human | 84 | 2.54x54 | TM2 | A => T | missense | 0.000802 | 17 | 21196 | 0 | 0.0 | 0.0 | |
drd4_human | 86 | 2.56x551 | TM2 | L => P | missense | 9.538e-05 | 2 | 20968 | 0 | 0.0 | 0.0 | |
drd4_human | 89 | 2.59x58 | TM2 | P => T | missense | 4.914e-05 | 1 | 20352 | 0 | 0.01 | 0.0 | |
drd4_human | 89 | 2.59x58 | TM2 | P => L | missense | 4.968e-05 | 1 | 20128 | 0 | 0.0 | 0.0 | |
drd4_human | 91 | 2.61x60 | TM2 | F => I | missense | 5.046e-05 | 1 | 19818 | 0 | 0.03 | 0.0 | LB (aromatic (edge-to-face)) |
drd4_human | 93 | 2.63x62 | TM2 | Y => H | missense | 0.0001039 | 2 | 19254 | 0 | 0.0 | 0.0 | |
drd4_human | 95 | 2.65x64 | TM2 | E => K | missense | 0.0003716 | 7 | 18838 | 0 | 0.0 | 0.0 | |
drd4_human | 95 | 2.65x64 | TM2 | E => G | missense | 5.289e-05 | 1 | 18908 | 0 | 0.01 | 0.0 | |
drd4_human | 97 | 2.67x66 | TM2 | Q => E | missense | 1.829e-05 | 1 | 54672 | 0 | 0.27 | 0.0 | |
drd4_human | 98 | 2.68x67 | TM2 | G => D | missense | 1.713e-05 | 1 | 58386 | 0 | 0.17 | 0.0 | LB (hydrophobic) |
drd4_human | 105 | 3.22x22 | TM3 | P => T | missense | 1.276e-05 | 1 | 78368 | 0 | 1.0 | 0.0 | |
drd4_human | 106 | 3.23x23 | TM3 | R => C | missense | 0.0004652 | 38 | 81688 | 1 | 0.17 | 0.0 | |
drd4_human | 106 | 3.23x23 | TM3 | R => H | missense | 2.423e-05 | 2 | 82552 | 0 | 0.54 | 0.0 | |
drd4_human | 108 | 3.25x25 | TM3 | C => Y | missense | 1.158e-05 | 1 | 86328 | 0 | 0.0 | 0.0 | |
drd4_human | 109 | 3.26x26 | TM3 | D => H | missense | 1.142e-05 | 1 | 87564 | 0 | 0.0 | 0.0 | LB (hydrophobic) |
drd4_human | 110 | 3.27x27 | TM3 | A => T | missense | 1.117e-05 | 1 | 89512 | 0 | 0.25 | 0.0 | |
drd4_human | 110 | 3.27x27 | TM3 | A => P | missense | 1.117e-05 | 1 | 89512 | 0 | 0.09 | 0.0 | |
drd4_human | 112 | 3.29x29 | TM3 | M => L | missense | 2.174e-05 | 2 | 92012 | 0 | 0.1 | 0.0 | LB (polar (hydrogen bond), polar (charge-assisted hydrogen bond)) |
drd4_human | 112 | 3.29x29 | TM3 | M => K | missense | 1.083e-05 | 1 | 92322 | 0 | 0.0 | 0.0 | LB (polar (hydrogen bond), polar (charge-assisted hydrogen bond)) |
drd4_human | 112 | 3.29x29 | TM3 | M => I | missense | 4.326e-05 | 4 | 92454 | 0 | 0.01 | 0.0 | LB (polar (hydrogen bond), polar (charge-assisted hydrogen bond)) |
drd4_human | 113 | 3.30x30 | TM3 | A => P | missense | 1.079e-05 | 1 | 92684 | 0 | 0.0 | 0.0 | LB (hydrophobic, Van der Waals) |
drd4_human | 114 | 3.31x31 | TM3 | M => T | missense | 8.552e-05 | 8 | 93540 | 0 | 0.0 | 0.0 | |
drd4_human | 115 | 3.32x32 | TM3 | D => H | missense | 0.0002024 | 19 | 93864 | 0 | 0.0 | 0.0 | LB (polar (charge-assisted hydrogen bond)) |
drd4_human | 116 | 3.33x33 | TM3 | V => I | missense | 2.132e-05 | 2 | 93828 | 0 | 0.0 | 0.0 | LB (hydrophobic, Van der Waals, polar (hydrogen bond with backbone)) |
drd4_human | 116 | 3.33x33 | TM3 | V => F | missense | 1.066e-05 | 1 | 93828 | 0 | 0.0 | 0.0 | LB (hydrophobic, Van der Waals, polar (hydrogen bond with backbone)) |
drd4_human | 117 | 3.34x34 | TM3 | M => T | missense | 1.065e-05 | 1 | 93920 | 0 | 0.0 | 0.0 | |
drd4_human | 118 | 3.35x35 | TM3 | L => P | missense | 0.0001277 | 12 | 93990 | 0 | 0.0 | 0.0 | |
drd4_human | 119 | 3.36x36 | TM3 | C => Y | missense | 1.067e-05 | 1 | 93740 | 0 | 0.0 | 0.0 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
drd4_human | 122 | 3.39x39 | TM3 | S => F | missense | 3.238e-05 | 3 | 92656 | 0 | 0.0 | 0.0 | |
drd4_human | 122 | 3.39x39 | TM3 | S => C | missense | 1.079e-05 | 1 | 92656 | 0 | 0.0 | 0.0 | |
drd4_human | 124 | 3.41x41 | TM3 | F => S | missense | 1.089e-05 | 1 | 91854 | 0 | 0.0 | 0.0 | |
drd4_human | 127 | 3.44x44 | TM3 | C => Y | missense | 6.85e-05 | 6 | 87588 | 0 | 0.0 | 0.0 | |
drd4_human | 128 | 3.45x45 | TM3 | A => T | missense | 1.146e-05 | 1 | 87236 | 0 | 0.0 | 0.0 | |
drd4_human | 129 | 3.46x46 | TM3 | I => S | missense | 5.844e-05 | 5 | 85554 | 0 | 0.0 | 0.0 | |
drd4_human | 130 | 3.47x47 | TM3 | S => G | missense | 1.199e-05 | 1 | 83432 | 0 | 0.0 | 0.0 | |
drd4_human | 131 | 3.48x48 | TM3 | V => A | missense | 1.245e-05 | 1 | 80346 | 0 | 0.02 | 0.0 | |
drd4_human | 140 | 34.50x50 | ICL2 | P => Q | missense | 9.823e-05 | 1 | 10180 | 0 | 0.0 | 0.0 | GP (contact) |
drd4_human | 144 | 34.54x54 | ICL2 | N => K | missense | 9.645e-05 | 1 | 10368 | 0 | 0.0 | 0.0 | GP (contact) |
drd4_human | 156 | 4.46x46 | TM4 | I => T | missense | 0.0004091 | 6 | 14668 | 0 | 0.0 | 0.0 | |
drd4_human | 157 | 4.47x47 | TM4 | G => D | missense | 0.0008102 | 13 | 16046 | 0 | 0.03 | 0.0 | |
drd4_human | 162 | 4.52x52 | TM4 | L => M | missense | 8.872e-05 | 2 | 22544 | 0 | 0.01 | 0.0 | |
drd4_human | 166 | 4.56x56 | TM4 | V => G | missense | 3.113e-05 | 1 | 32122 | 0 | 0.0 | 0.0 | |
drd4_human | 167 | 4.57x57 | TM4 | A => V | missense | 8.477e-05 | 3 | 35388 | 0 | 0.0 | 0.0 | |
drd4_human | 168 | 4.58x59 | TM4 | A => T | missense | 5.103e-05 | 2 | 39192 | 0 | 0.09 | 0.0 | |
drd4_human | 169 | 4.59x60 | TM4 | P => S | missense | 4.482e-05 | 2 | 44622 | 0 | 0.0 | 0.0 | |
drd4_human | 170 | 4.60x61 | TM4 | V => L | missense | 1.993e-05 | 1 | 50186 | 0 | 0.33 | 0.0 | |
drd4_human | 170 | 4.60x61 | TM4 | V => I | missense | 1.993e-05 | 1 | 50186 | 0 | 0.15 | 0.0 | |
drd4_human | 173 | 4.63x64 | TM4 | G => S | missense | 1.535e-05 | 1 | 65132 | 0 | 0.0 | 0.0 | |
drd4_human | 173 | 4.63x64 | TM4 | G => C | missense | 3.071e-05 | 2 | 65132 | 0 | 0.0 | 0.0 | |
drd4_human | 175 | ECL2 | N => S | missense | 2.69e-05 | 2 | 74336 | 0 | 0.0 | 0.0 | ||
drd4_human | 177 | ECL2 | V => L | missense | 1.228e-05 | 1 | 81418 | 0 | 0.01 | 0.0 | ||
drd4_human | 180 | ECL2 | R => C | missense | 1.08e-05 | 1 | 92616 | 0 | 0.0 | 0.0 | ||
drd4_human | 181 | ECL2 | D => A | missense | 1.027e-05 | 1 | 97388 | 0 | 0.0 | 0.0 | ||
drd4_human | 182 | ECL2 | P => S | missense | 1.006e-05 | 1 | 99430 | 0 | 0.01 | 0.0 | ||
drd4_human | 187 | 45.52x52 | ECL2 | L => V | missense | 9.221e-06 | 1 | 108452 | 0 | 0.0 | 0.0 | LB (hydrophobic, Van der Waals) |
drd4_human | 190 | 5.36x37 | TM5 | R => C | missense | 9.021e-06 | 1 | 110848 | 0 | 0.04 | 0.0 | |
drd4_human | 190 | 5.36x37 | TM5 | R => S | missense | 9.021e-06 | 1 | 110848 | 0 | 0.43 | 0.0 | |
drd4_human | 191 | 5.37x38 | TM5 | D => A | missense | 8.951e-06 | 1 | 111722 | 0 | 0.16 | 0.0 | |
drd4_human | 194 | 5.40x41 | TM5 | V => G | missense | 0.00462 | 522 | 112976 | 9 | 0.0 | 0.0 | |
drd4_human | 196 | 5.42x43 | TM5 | S => L | missense | 8.816e-06 | 1 | 113430 | 0 | 0.0 | 0.0 | LB (polar (hydrogen bond), polar (hydrogen bond with backbone)) |
drd4_human | 199 | 5.45x46 | TM5 | C => Y | missense | 6.146e-05 | 7 | 113892 | 0 | 0.0 | 0.0 | |
drd4_human | 200 | 5.46x461 | TM5 | S => F | missense | 2.632e-05 | 3 | 113998 | 0 | 0.0 | 0.0 | LB (Van der Waals, polar (hydrogen bond)) |
drd4_human | 201 | 5.47x47 | TM5 | F => S | missense | 9.645e-05 | 11 | 114046 | 0 | 0.0 | 0.0 | SodiumPocket MicroSwitch |
drd4_human | 206 | 5.52x52 | TM5 | P => Q | missense | 8.767e-06 | 1 | 114060 | 0 | 0.01 | 0.0 | |
drd4_human | 211 | 5.57x57 | TM5 | L => F | missense | 1.759e-05 | 2 | 113704 | 0 | 0.0 | 0.0 | |
drd4_human | 212 | 5.58x58 | TM5 | Y => C | missense | 0.0003701 | 42 | 113478 | 1 | 0.0 | 0.0 | SodiumPocket MicroSwitch |
drd4_human | 214 | 5.60x60 | TM5 | A => T | missense | 2.655e-05 | 3 | 112980 | 0 | 0.11 | 0.0 | |
drd4_human | 214 | 5.60x60 | TM5 | A => V | missense | 8.85e-06 | 1 | 113000 | 0 | 0.09 | 0.0 | |
drd4_human | 217 | 5.63x63 | TM5 | R => C | missense | 8.902e-06 | 1 | 112334 | 0 | 0.01 | 0.0 | |
drd4_human | 218 | 5.64x64 | TM5 | G => C | missense | 9.836e-05 | 11 | 111830 | 0 | 0.02 | 0.0 | GP (contact) |
drd4_human | 218 | 5.64x64 | TM5 | G => S | missense | 8.942e-06 | 1 | 111830 | 0 | 0.13 | 0.0 | GP (contact) |
drd4_human | 221 | 5.67x67 | TM5 | R => H | missense | 9.059e-06 | 1 | 110384 | 0 | 0.03 | 0.0 | GP (contact) |
drd4_human | 222 | 5.68x68 | TM5 | W => S | missense | 9.08e-06 | 1 | 110130 | 0 | 0.01 | 0.0 | GP (contact) |
drd4_human | 226 | 5.72x72 | TM5 | R => C | missense | 9.373e-06 | 1 | 106688 | 0 | 0.0 | 0.0 | GP (contact) |
drd4_human | 226 | 5.72x72 | TM5 | R => G | missense | 3.749e-05 | 4 | 106688 | 0 | 0.02 | 0.0 | GP (contact) |
drd4_human | 227 | 5.73x73 | TM5 | R => C | missense | 2.857e-05 | 3 | 105006 | 0 | 0.0 | 0.0 | |
drd4_human | 227 | 5.73x73 | TM5 | R => H | missense | 6.905e-05 | 7 | 101370 | 0 | 0.09 | 0.0 | |
drd4_human | 227 | 5.73x73 | TM5 | R => P | missense | 9.865e-06 | 1 | 101370 | 0 | 0.0 | 0.0 | |
drd4_human | 228 | 5.74x74 | TM5 | A => V | missense | 4.131e-05 | 4 | 96822 | 0 | 0.12 | 0.0 | GP (contact) |
drd4_human | 232 | ICL3 | G => S | missense | 0.0002469 | 7 | 28354 | 0 | 1.0 | 0.0 | ||
drd4_human | 232 | ICL3 | G => R | missense | 3.527e-05 | 1 | 28354 | 0 | 0.38 | 0.0 | ||
drd4_human | 233 | ICL3 | R => H | missense | 4.517e-05 | 1 | 22140 | 0 | 0.1 | 0.0 | ||
drd4_human | 233 | ICL3 | R => P | missense | 4.517e-05 | 1 | 22140 | 0 | 0.07 | 0.0 | ||
drd4_human | 235 | ICL3 | P => L | missense | 1.436e-05 | 1 | 69652 | 0 | 0.83 | 0.0 | ||
drd4_human | 236 | ICL3 | R => H | missense | 3.065e-05 | 2 | 65260 | 0 | 0.09 | 0.0 | ||
drd4_human | 240 | ICL3 | G => S | missense | 0.001219 | 49 | 40208 | 0 | 0.42 | 0.0 | ||
drd4_human | 240 | ICL3 | G => A | missense | 5.768e-05 | 2 | 34672 | 0 | 0.51 | 0.0 | ||
drd4_human | 240 | ICL3 | G => D | missense | 2.884e-05 | 1 | 34672 | 0 | 0.28 | 0.0 | ||
drd4_human | 241 | ICL3 | P => R | missense | 3.098e-05 | 1 | 32274 | 0 | 0.2 | 0.0 | ||
drd4_human | 242 | ICL3 | G => A | missense | 3.688e-05 | 1 | 27114 | 0 | 0.79 | 0.0 | ||
drd4_human | 255 | ICL3 | Q => P | missense | 0.004464 | 1 | 224 | 0 | 0.16 | 0.0 | ||
drd4_human | 268 | ICL3 | G => C | missense | 0.05556 | 1 | 18 | 0 | 0.09 | 0.0 | ||
drd4_human | 272 | ICL3 | G => V | missense | 0.0625 | 1 | 16 | 0 | 0.25 | 0.0 | ||
drd4_human | 310 | ICL3 | C => R | missense | 0.001111 | 10 | 8998 | 0 | 0.66 | 0.588 | ||
drd4_human | 313 | ICL3 | P => R | missense | 0.007434 | 73 | 9820 | 0 | 0.51 | 0.904 | ||
drd4_human | 339 | 6.28x28 | TM6 | G => D | missense | 0.001891 | 22 | 11636 | 1 | 0.03 | 0.889 | GP (contact) |
drd4_human | 358 | 6.47x47 | TM6 | C => W | missense | 9.605e-05 | 11 | 114526 | 0 | 0.0 | 0.994 | LB (Van der Waals) |
drd4_human | 364 | 6.53x53 | TM6 | V => L | missense | 8.569e-06 | 1 | 116704 | 0 | 0.09 | 0.972 | |
drd4_human | 364 | 6.53x53 | TM6 | V => M | missense | 8.569e-06 | 1 | 116704 | 0 | 0.0 | 0.994 | |
drd4_human | 386 | 7.39x38 | TM7 | T => P | missense | 1.684e-05 | 2 | 118762 | 0 | 0.0 | 0.994 | LB (polar (hydrogen bond with backbone), Van der Waals) |
drd4_human | 386 | 7.39x38 | TM7 | T => I | missense | 8.42e-06 | 1 | 118770 | 0 | 0.0 | 0.994 | LB (polar (hydrogen bond with backbone), Van der Waals) |
drd4_human | 397 | 7.50x50 | TM7 | P => L | missense | 8.403e-06 | 1 | 119000 | 0 | 0.0 | 0.996 | SodiumPocket MicroSwitch |
drd4_human | 403 | 7.56x56 | TM7 | F => L | missense | 8.41e-06 | 1 | 118904 | 0 | 0.0 | 0.961 | GP (contact) |
drd4_human | 411 | 8.54x54 | H8 | F => L | missense | 8.437e-06 | 1 | 118524 | 0 | 0.0 | 0.961 | LB (hydrophobic, Van der Waals) |
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