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 |
ada2c_human | 202 | 45.50x50 | ECL2 | C => Ter | stop gained | 2.029e-05 | 2 | 98564 | 0 | None | None | |
ada2c_human | 28 | N-term | S => T | missense | 0.004587 | 1 | 218 | 0 | 0.61 | 0.0 | ||
ada2c_human | 57 | 1.38x38 | TM1 | V => L | missense | 0.0001038 | 1 | 9634 | 0 | 1.0 | 0.004 | |
ada2c_human | 59 | 1.40x40 | TM1 | G => S | missense | 0.000168 | 2 | 11906 | 0 | 0.74 | 0.056 | |
ada2c_human | 59 | 1.40x40 | TM1 | G => D | missense | 8.15e-05 | 1 | 12270 | 0 | 0.09 | 0.737 | |
ada2c_human | 62 | 1.43x43 | TM1 | I => V | missense | 6.447e-05 | 1 | 15512 | 0 | 0.16 | 0.688 | |
ada2c_human | 66 | 1.47x47 | TM1 | V => M | missense | 9.887e-05 | 2 | 20228 | 0 | 0.0 | 0.96 | |
ada2c_human | 67 | 1.48x48 | TM1 | V => A | missense | 4.666e-05 | 1 | 21432 | 0 | 0.02 | 0.823 | |
ada2c_human | 70 | 1.51x51 | TM1 | V => L | missense | 0.0001231 | 3 | 24370 | 0 | 0.02 | 0.963 | |
ada2c_human | 80 | 12.48x48 | ICL1 | R => Q | missense | 5.252e-05 | 2 | 38084 | 0 | 0.0 | 0.997 | |
ada2c_human | 84 | 2.37x37 | TM2 | A => V | missense | 1.978e-05 | 1 | 50564 | 0 | 0.0 | 0.998 | |
ada2c_human | 87 | 2.40x40 | TM2 | N => K | missense | 1.627e-05 | 1 | 61460 | 0 | 0.01 | 1.0 | |
ada2c_human | 105 | 2.58x57 | TM2 | M => L | missense | 9.531e-06 | 1 | 104918 | 0 | 0.02 | 0.475 | |
ada2c_human | 110 | 2.63x62 | TM2 | A => V | missense | 9.021e-06 | 1 | 110848 | 0 | 0.02 | 0.951 | |
ada2c_human | 115 | 2.68x67 | TM2 | A => S | missense | 8.662e-06 | 1 | 115442 | 0 | 0.0 | 0.439 | |
ada2c_human | 115 | 2.68x67 | TM2 | A => T | missense | 1.732e-05 | 2 | 115442 | 0 | 0.0 | 0.636 | |
ada2c_human | 118 | 23.51x51 | ECL1 | Y => F | missense | 8.559e-06 | 1 | 116834 | 0 | 0.07 | 0.449 | |
ada2c_human | 121 | 3.22x22 | TM3 | Q => R | missense | 8.492e-06 | 1 | 117758 | 0 | 0.54 | 0.03 | |
ada2c_human | 135 | 3.36x36 | TM3 | C => R | missense | 8.355e-06 | 1 | 119690 | 0 | 0.0 | 1.0 | LB (hydrophobic, Van der Waals) |
ada2c_human | 157 | 34.51x51 | ICL2 | V => I | missense | 0.0001174 | 14 | 119218 | 0 | 0.61 | 0.472 | GP (contact) |
ada2c_human | 158 | 34.52x52 | ICL2 | E => K | missense | 0.0001175 | 14 | 119138 | 0 | 0.02 | 0.692 | GP (contact) |
ada2c_human | 169 | 4.43x43 | TM4 | K => Q | missense | 8.528e-06 | 1 | 117266 | 0 | 0.0 | 1.0 | |
ada2c_human | 172 | 4.46x46 | TM4 | I => V | missense | 8.602e-06 | 1 | 116254 | 0 | 0.02 | 0.863 | |
ada2c_human | 173 | 4.47x47 | TM4 | V => L | missense | 8.638e-06 | 1 | 115768 | 0 | 0.86 | 0.243 | |
ada2c_human | 174 | 4.48x48 | TM4 | A => V | missense | 8.657e-06 | 1 | 115508 | 0 | 1.0 | 0.055 | |
ada2c_human | 181 | 4.55x55 | TM4 | V => I | missense | 3.603e-05 | 4 | 111004 | 0 | 0.33 | 0.416 | |
ada2c_human | 181 | 4.55x55 | TM4 | V => F | missense | 1.802e-05 | 2 | 111004 | 0 | 0.11 | 0.63 | |
ada2c_human | 191 | ECL2 | Y => F | missense | 2.813e-05 | 3 | 106666 | 0 | 0.11 | 0.707 | ||
ada2c_human | 192 | ECL2 | R => H | missense | 9.425e-06 | 1 | 106096 | 0 | 0.04 | 0.183 | ||
ada2c_human | 195 | ECL2 | D => E | missense | 2.878e-05 | 3 | 104242 | 0 | 0.97 | 0.055 | ||
ada2c_human | 198 | ECL2 | A => D | missense | 0.0001067 | 11 | 103092 | 0 | 0.42 | 0.066 | ||
ada2c_human | 200 | ECL2 | P => L | missense | 9.871e-06 | 1 | 101306 | 0 | 0.01 | 0.362 | ||
ada2c_human | 213 | 5.41x42 | TM5 | S => Y | missense | 2.23e-05 | 2 | 89680 | 0 | 0.34 | 0.53 | |
ada2c_human | 224 | 5.52x52 | TM5 | L => V | missense | 1.359e-05 | 1 | 73560 | 0 | 0.3 | 0.557 | |
ada2c_human | 227 | 5.55x55 | TM5 | G => V | missense | 7.789e-05 | 5 | 64196 | 0 | 0.25 | 0.086 | |
ada2c_human | 229 | 5.57x57 | TM5 | V => L | missense | 1.623e-05 | 1 | 61630 | 0 | 0.0 | 0.919 | |
ada2c_human | 232 | 5.60x60 | TM5 | R => L | missense | 3.634e-05 | 2 | 55036 | 0 | 0.0 | 0.998 | |
ada2c_human | 234 | 5.62x62 | TM5 | Y => H | missense | 1.887e-05 | 1 | 53000 | 0 | 0.0 | 0.999 | |
ada2c_human | 240 | 5.68x68 | TM5 | R => H | missense | 2.841e-05 | 1 | 35200 | 0 | 0.11 | 0.998 | GP (contact) |
ada2c_human | 243 | 5.71x71 | TM5 | T => R | missense | 3.349e-05 | 1 | 29858 | 0 | 0.34 | 0.852 | GP (contact) |
ada2c_human | 244 | 5.72x72 | TM5 | L => R | missense | 3.588e-05 | 1 | 27868 | 0 | 0.53 | 0.666 | GP (contact) |
ada2c_human | 254 | ICL3 | D => H | missense | 7.082e-05 | 1 | 14120 | 0 | 0.03 | 0.972 | ||
ada2c_human | 256 | ICL3 | A => V | missense | 0.0004595 | 6 | 13058 | 0 | 0.19 | 0.183 | ||
ada2c_human | 277 | ICL3 | A => V | missense | 0.0004806 | 3 | 6242 | 0 | 0.31 | 0.013 | ||
ada2c_human | 332 | ICL3 | A => P | missense | 0.01563 | 1 | 64 | 0 | 0.31 | 0.238 | ||
ada2c_human | 339 | ICL3 | P => S | missense | 0.007895 | 3 | 380 | 0 | 0.24 | 0.003 | ||
ada2c_human | 342 | ICL3 | G => V | missense | 0.001109 | 1 | 902 | 0 | 0.25 | 0.248 | ||
ada2c_human | 351 | ICL3 | R => C | missense | 0.0003255 | 3 | 9216 | 0 | 0.01 | 0.791 | ||
ada2c_human | 357 | ICL3 | L => R | missense | 3.506e-05 | 1 | 28524 | 0 | 0.58 | 0.013 | ||
ada2c_human | 360 | ICL3 | R => W | missense | 2.363e-05 | 1 | 42322 | 0 | 0.01 | 0.948 | ||
ada2c_human | 360 | ICL3 | R => G | missense | 2.363e-05 | 1 | 42322 | 0 | 0.46 | 0.498 | ||
ada2c_human | 360 | ICL3 | R => P | missense | 2.179e-05 | 1 | 45896 | 0 | 0.19 | 0.037 | ||
ada2c_human | 361 | ICL3 | R => S | missense | 0.0002561 | 12 | 46864 | 0 | 0.67 | 0.6 | ||
ada2c_human | 366 | ICL3 | S => C | missense | 1.159e-05 | 1 | 86248 | 0 | 0.02 | 0.199 | ||
ada2c_human | 366 | ICL3 | S => R | missense | 3.408e-05 | 3 | 88016 | 0 | 0.34 | 0.259 | ||
ada2c_human | 369 | ICL3 | R => C | missense | 1.036e-05 | 1 | 96552 | 0 | 0.0 | 0.991 | ||
ada2c_human | 370 | ICL3 | R => L | missense | 9.914e-06 | 1 | 100864 | 0 | 0.06 | 0.162 | ||
ada2c_human | 371 | 6.24x24 | TM6 | K => R | missense | 1.926e-05 | 2 | 103852 | 0 | 0.43 | 0.279 | |
ada2c_human | 372 | 6.25x25 | TM6 | V => L | missense | 9.531e-06 | 1 | 104920 | 0 | 0.26 | 0.018 | GP (contact) |
ada2c_human | 392 | 6.45x45 | TM6 | V => M | missense | 8.46e-05 | 10 | 118200 | 0 | 0.02 | 1.0 | |
ada2c_human | 401 | 6.54x54 | TM6 | S => I | missense | 8.415e-06 | 1 | 118840 | 0 | 0.0 | 0.903 | |
ada2c_human | 404 | 6.57x57 | TM6 | L => M | missense | 8.407e-06 | 1 | 118942 | 0 | 0.01 | 1.0 | |
ada2c_human | 406 | 6.59x59 | TM6 | G => R | missense | 8.407e-06 | 1 | 118948 | 0 | 0.0 | 0.978 | |
ada2c_human | 409 | 6.62x62 | TM6 | R => H | missense | 8.403e-06 | 1 | 119004 | 0 | 0.11 | 0.971 | |
ada2c_human | 414 | ECL3 | V => L | missense | 8.398e-06 | 1 | 119076 | 0 | 0.1 | 0.164 | ||
ada2c_human | 416 | 7.32x31 | TM7 | G => D | missense | 2.521e-05 | 3 | 119024 | 0 | 0.82 | 0.003 | |
ada2c_human | 421 | 7.37x36 | TM7 | F => V | missense | 8.399e-06 | 1 | 119056 | 0 | 0.0 | 0.934 | |
ada2c_human | 423 | 7.39x38 | TM7 | F => L | missense | 8.4e-06 | 1 | 119044 | 0 | 0.0 | 0.999 | LB (hydrophobic, Van der Waals) |
ada2c_human | 432 | 7.48x48 | TM7 | L => V | missense | 8.44e-06 | 1 | 118486 | 0 | 0.12 | 0.841 | |
ada2c_human | 438 | 7.54x54 | TM7 | T => M | missense | 8.469e-06 | 1 | 118074 | 0 | 0.0 | 0.995 | |
ada2c_human | 447 | 8.53x53 | H8 | S => F | missense | 8.566e-06 | 1 | 116734 | 0 | 0.0 | 0.0 | |
ada2c_human | 452 | 8.58x58 | H8 | L => F | missense | 8.718e-06 | 1 | 114708 | 0 | 0.0 | 0.0 | |
ada2c_human | 455 | C-term | R => W | missense | 8.805e-06 | 1 | 113566 | 0 | 0.02 | 0.0 | ||
ada2c_human | 455 | C-term | R => Q | missense | 8.84e-06 | 1 | 113120 | 0 | 0.67 | 0.0 | ||
ada2c_human | 458 | C-term | R => K | missense | 0.0004368 | 49 | 112168 | 0 | 0.98 | 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