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 |
drd1_human | 394 | C-term | A => LeufsTer3 | frameshift | 8.242e-06 | 1 | 121326 | 0 | None | None | ||
drd1_human | 361 | C-term | V => GlufsTer4 | frameshift | 8.237e-06 | 1 | 121402 | 0 | None | None | ||
drd1_human | 446 | C-term | T => I | missense | 3.586e-05 | 4 | 111542 | 0 | nan | 0.46 | ||
drd1_human | 446 | C-term | T => A | missense | 0.0001613 | 18 | 111570 | 0 | nan | 0.069 | ||
drd1_human | 443 | C-term | Q => R | missense | 2.674e-05 | 3 | 112200 | 0 | nan | 0.801 | ||
drd1_human | 441 | C-term | N => D | missense | 8.858e-06 | 1 | 112894 | 0 | 0.03 | 0.16 | ||
drd1_human | 437 | C-term | P => H | missense | 8.79e-06 | 1 | 113762 | 0 | 0.0 | 0.866 | ||
drd1_human | 430 | C-term | V => A | missense | 8.546e-06 | 1 | 117020 | 0 | nan | 0.174 | ||
drd1_human | 429 | C-term | D => E | missense | 8.502e-06 | 1 | 117620 | 0 | 1.0 | 0.041 | ||
drd1_human | 425 | C-term | D => Y | missense | 8.361e-06 | 1 | 119600 | 0 | nan | 0.959 | ||
drd1_human | 421 | C-term | S => L | missense | 8.243e-06 | 1 | 121308 | 0 | nan | 0.894 | ||
drd1_human | 410 | C-term | A => T | missense | 8.244e-06 | 1 | 121300 | 0 | nan | 0.014 | ||
drd1_human | 410 | C-term | A => S | missense | 8.244e-06 | 1 | 121300 | 0 | 1.0 | 0.001 | ||
drd1_human | 409 | C-term | I => T | missense | 8.243e-06 | 1 | 121310 | 0 | nan | 0.0 | ||
drd1_human | 405 | C-term | E => G | missense | 8.243e-06 | 1 | 121314 | 0 | nan | 0.055 | ||
drd1_human | 403 | C-term | K => N | missense | 8.243e-06 | 1 | 121320 | 0 | 0.49 | 0.013 | ||
drd1_human | 400 | C-term | D => N | missense | 1.649e-05 | 2 | 121320 | 0 | nan | 0.195 | ||
drd1_human | 395 | C-term | V => M | missense | 2.473e-05 | 3 | 121334 | 0 | 0.0 | 0.703 | ||
drd1_human | 393 | C-term | H => R | missense | 0.0001401 | 17 | 121350 | 0 | 0.03 | 0.147 | ||
drd1_human | 388 | C-term | V => I | missense | 8.238e-06 | 1 | 121382 | 0 | nan | 0.033 | ||
drd1_human | 385 | C-term | C => Y | missense | 1.648e-05 | 2 | 121392 | 0 | 0.66 | 0.17 | ||
drd1_human | 379 | C-term | G => V | missense | 8.237e-06 | 1 | 121400 | 0 | 0.51 | 0.883 | ||
drd1_human | 378 | C-term | R => Q | missense | 8.237e-06 | 1 | 121402 | 0 | 0.55 | 0.012 | ||
drd1_human | 374 | C-term | H => R | missense | 1.647e-05 | 2 | 121404 | 0 | 0.04 | 0.071 | ||
drd1_human | 372 | C-term | S => P | missense | 8.237e-06 | 1 | 121404 | 0 | 0.01 | 0.616 | ||
drd1_human | 369 | C-term | A => V | missense | 0.0001153 | 14 | 121406 | 0 | 0.33 | 0.0 | ||
drd1_human | 369 | C-term | A => S | missense | 8.237e-06 | 1 | 121404 | 0 | 1.0 | 0.003 | ||
drd1_human | 369 | C-term | A => T | missense | 1.647e-05 | 2 | 121404 | 1 | 0.34 | 0.011 | ||
drd1_human | 366 | C-term | N => K | missense | 8.237e-06 | 1 | 121406 | 0 | 0.06 | 0.014 | ||
drd1_human | 363 | C-term | I => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.02 | 0.825 | ||
drd1_human | 363 | C-term | I => V | missense | 8.237e-06 | 1 | 121400 | 0 | 0.1 | 0.083 | ||
drd1_human | 362 | C-term | S => N | missense | 1.647e-05 | 2 | 121402 | 0 | 1.0 | 0.082 | ||
drd1_human | 360 | C-term | T => M | missense | 8.237e-06 | 1 | 121398 | 0 | 0.02 | 0.84 | PTM (Phosphorylation) | |
drd1_human | 354 | C-term | T => M | missense | 8.238e-06 | 1 | 121386 | 0 | 0.03 | 0.459 | ||
drd1_human | 353 | C-term | A => V | missense | 0.0005272 | 64 | 121388 | 1 | 0.23 | 0.001 | ||
drd1_human | 353 | C-term | A => G | missense | 1.648e-05 | 2 | 121388 | 0 | 0.76 | 0.001 | ||
drd1_human | 349 | C-term | R => S | missense | 8.239e-06 | 1 | 121380 | 0 | 0.09 | 0.119 | ||
drd1_human | 349 | C-term | R => T | missense | 8.239e-06 | 1 | 121380 | 0 | 0.09 | 0.011 | ||
drd1_human | 349 | C-term | R => G | missense | 8.239e-06 | 1 | 121378 | 0 | 0.12 | 0.119 | ||
drd1_human | 348 | C-term | Y => H | missense | 8.239e-06 | 1 | 121368 | 0 | 0.56 | 0.008 | ||
drd1_human | 310 | 7.32x31 | TM7 | S => P | missense | 8.257e-06 | 1 | 121108 | 0 | 0.17 | 0.002 | LB (Van der Waals) |
drd1_human | 306 | ECL3 | F => C | missense | 8.26e-06 | 1 | 121066 | 0 | 0.18 | 0.95 | ||
drd1_human | 306 | ECL3 | F => V | missense | 7.434e-05 | 9 | 121064 | 0 | 0.5 | 0.403 | ||
drd1_human | 306 | ECL3 | F => L | missense | 1.652e-05 | 2 | 121064 | 0 | 0.66 | 0.029 | ||
drd1_human | 303 | ECL3 | T => M | missense | 1.652e-05 | 2 | 121036 | 0 | 0.1 | 0.767 | ||
drd1_human | 301 | ECL3 | G => R | missense | 8.265e-06 | 1 | 120992 | 0 | 0.43 | 0.018 | ||
drd1_human | 288 | 6.51x51 | TM6 | F => L | missense | 8.269e-06 | 1 | 120928 | 0 | 0.01 | 0.999 | LB (aromatic (edge-to-face), Van der Waals, hydrophobic) |
drd1_human | 270 | 6.33x33 | TM6 | V => L | missense | 1.654e-05 | 2 | 120938 | 0 | 0.06 | 0.999 | GP (contact) |
drd1_human | 261 | 6.24x24 | TM6 | K => N | missense | 8.264e-06 | 1 | 121006 | 0 | 0.0 | 0.99 | |
drd1_human | 259 | ICL3 | S => Y | missense | 0.003709 | 449 | 121050 | 6 | 0.0 | 0.981 | ||
drd1_human | 256 | ICL3 | P => L | missense | 4.128e-05 | 5 | 121112 | 0 | 0.08 | 0.005 | ||
drd1_human | 252 | ICL3 | E => K | missense | 3.3e-05 | 4 | 121230 | 0 | 0.31 | 0.69 | ||
drd1_human | 250 | ICL3 | P => S | missense | 0.0001566 | 19 | 121290 | 0 | 0.42 | 0.006 | ||
drd1_human | 241 | 5.85x85 | TM5 | C => R | missense | 8.239e-06 | 1 | 121378 | 0 | 0.18 | 0.013 | |
drd1_human | 238 | 5.82x82 | TM5 | A => T | missense | 8.239e-06 | 1 | 121378 | 0 | 0.03 | 1.0 | |
drd1_human | 237 | 5.81x81 | TM5 | H => Q | missense | 8.238e-06 | 1 | 121384 | 0 | 0.14 | 0.838 | |
drd1_human | 229 | 5.73x73 | TM5 | A => V | missense | 3.295e-05 | 4 | 121406 | 0 | 0.0 | 0.226 | |
drd1_human | 228 | 5.72x72 | TM5 | I => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.01 | 0.998 | GP (contact) |
drd1_human | 227 | 5.71x71 | TM5 | R => H | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 1.0 | GP (contact) |
drd1_human | 227 | 5.71x71 | TM5 | R => C | missense | 2.471e-05 | 3 | 121410 | 0 | 0.0 | 1.0 | GP (contact) |
drd1_human | 227 | 5.71x71 | TM5 | R => S | missense | 8.237e-06 | 1 | 121410 | 0 | 0.03 | 1.0 | GP (contact) |
drd1_human | 226 | 5.70x70 | TM5 | R => Q | missense | 1.647e-05 | 2 | 121412 | 0 | 0.04 | 0.999 | |
drd1_human | 226 | 5.70x70 | TM5 | R => W | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
drd1_human | 226 | 5.70x70 | TM5 | R => G | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
drd1_human | 217 | 5.61x61 | TM5 | I => V | missense | 4.118e-05 | 5 | 121412 | 0 | 0.0 | 0.998 | GP (contact) |
drd1_human | 208 | 5.52x52 | TM5 | A => V | missense | 8.236e-06 | 1 | 121412 | 0 | 0.18 | 0.074 | |
drd1_human | 200 | 5.44x45 | TM5 | V => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.033 | |
drd1_human | 191 | 5.35x36 | TM5 | S => G | missense | 1.647e-05 | 2 | 121412 | 0 | 0.0 | 0.219 | |
drd1_human | 185 | ECL2 | N => K | missense | 7.413e-05 | 9 | 121412 | 0 | 0.1 | 0.788 | ||
drd1_human | 185 | ECL2 | N => D | missense | 8.236e-06 | 1 | 121412 | 0 | 0.21 | 0.074 | ||
drd1_human | 183 | ECL2 | I => V | missense | 8.236e-06 | 1 | 121412 | 0 | 0.29 | 0.001 | ||
drd1_human | 182 | ECL2 | T => A | missense | 4.942e-05 | 6 | 121412 | 0 | 0.77 | 0.001 | ||
drd1_human | 181 | ECL2 | E => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.61 | 0.002 | ||
drd1_human | 174 | ECL2 | G => R | missense | 8.236e-06 | 1 | 121412 | 0 | 0.67 | 0.005 | ||
drd1_human | 164 | ECL2 | H => Q | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | ||
drd1_human | 148 | 4.50x50 | TM4 | W => R | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
drd1_human | 147 | 4.49x49 | TM4 | A => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.18 | 0.458 | |
drd1_human | 145 | 4.47x47 | TM4 | S => G | missense | 2.471e-05 | 3 | 121412 | 0 | 1.0 | 0.002 | |
drd1_human | 138 | 4.40x40 | TM4 | K => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.05 | 0.078 | |
drd1_human | 137 | 4.39x39 | TM4 | P => L | missense | 2.471e-05 | 3 | 121412 | 0 | 0.06 | 0.981 | |
drd1_human | 137 | 4.39x39 | TM4 | P => S | missense | 2.471e-05 | 3 | 121412 | 0 | 0.08 | 0.974 | |
drd1_human | 134 | 34.56x56 | ICL2 | K => N | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 1.0 | GP (contact) |
drd1_human | 130 | 34.52x52 | ICL2 | R => Q | missense | 8.237e-06 | 1 | 121408 | 0 | 0.08 | 0.05 | GP (contact) |
drd1_human | 130 | 34.52x52 | ICL2 | R => W | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.952 | GP (contact) |
drd1_human | 119 | 3.48x48 | TM3 | V => M | missense | 8.237e-06 | 1 | 121406 | 0 | 0.12 | 0.981 | |
drd1_human | 96 | 3.25x25 | TM3 | C => Y | missense | 8.239e-06 | 1 | 121374 | 0 | 0.0 | 0.999 | |
drd1_human | 75 | 2.55x55 | TM2 | V => I | missense | 5.771e-05 | 7 | 121300 | 0 | 0.37 | 0.007 | |
drd1_human | 72 | 2.52x52 | TM2 | L => S | missense | 8.244e-06 | 1 | 121302 | 0 | 0.11 | 0.988 | |
drd1_human | 56 | 12.52x52 | ICL1 | S => A | missense | 8.244e-06 | 1 | 121294 | 0 | 0.47 | 0.669 | PTM (Phosphorylation) |
drd1_human | 50 | 1.59x59 | TM1 | R => K | missense | 8.245e-06 | 1 | 121290 | 0 | 0.69 | 0.015 | |
drd1_human | 48 | 1.57x57 | TM1 | V => I | missense | 1.649e-05 | 2 | 121274 | 0 | 0.24 | 0.997 | |
drd1_human | 42 | 1.51x51 | TM1 | T => M | missense | 2.474e-05 | 3 | 121280 | 0 | 0.08 | 1.0 | |
drd1_human | 29 | 1.38x38 | TM1 | F => L | missense | 8.248e-06 | 1 | 121236 | 0 | 1.0 | 0.039 | |
drd1_human | 27 | 1.36x36 | TM1 | A => G | missense | 8.249e-06 | 1 | 121220 | 0 | 1.0 | 0.0 | |
drd1_human | 23 | 1.32x32 | TM1 | R => H | missense | 9.901e-05 | 12 | 121194 | 0 | 0.0 | 0.998 | |
drd1_human | 23 | 1.32x32 | TM1 | R => L | missense | 8.251e-06 | 1 | 121194 | 0 | 0.0 | 0.998 | |
drd1_human | 23 | 1.32x32 | TM1 | R => P | missense | 8.251e-06 | 1 | 121194 | 0 | 0.0 | 0.999 | |
drd1_human | 23 | 1.32x32 | TM1 | R => S | missense | 1.65e-05 | 2 | 121182 | 0 | 0.01 | 0.998 | |
drd1_human | 19 | N-term | D => E | missense | 8.253e-06 | 1 | 121164 | 0 | 0.65 | 0.001 | ||
drd1_human | 18 | N-term | R => S | missense | 4.127e-05 | 5 | 121140 | 1 | nan | 0.012 | ||
drd1_human | 17 | N-term | E => V | missense | 1.651e-05 | 2 | 121104 | 0 | nan | 0.087 | ||
drd1_human | 11 | N-term | G => R | missense | 0.0004558 | 55 | 120672 | 1 | nan | 0.003 | ||
drd1_human | 2 | N-term | R => K | missense | 8.424e-06 | 1 | 118702 | 0 | nan | 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