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 |
acm4_human | 278 | ICL3 | P => AlafsTer12 | frameshift | 3.391e-05 | 3 | 88478 | 0 | None | None | ||
acm4_human | 277 | ICL3 | P => ArgfsTer69 | frameshift | 6.781e-05 | 6 | 88478 | 0 | None | None | ||
acm4_human | 476 | C-term | G => S | missense | 9.225e-06 | 1 | 108402 | 0 | nan | 0.895 | ||
acm4_human | 473 | C-term | R => Q | missense | 2.606e-05 | 3 | 115098 | 0 | 0.04 | 0.354 | ||
acm4_human | 473 | C-term | R => W | missense | 8.63e-06 | 1 | 115876 | 0 | 0.0 | 0.918 | ||
acm4_human | 465 | 8.55x55 | H8 | R => W | missense | 0.0003596 | 43 | 119582 | 0 | 0.0 | 0.654 | |
acm4_human | 444 | 7.44x43 | TM7 | V => I | missense | 1.661e-05 | 2 | 120436 | 0 | 0.73 | 0.386 | SodiumPocket MicroSwitch |
acm4_human | 418 | 6.53x53 | TM6 | V => I | missense | 2.493e-05 | 3 | 120342 | 0 | 1.0 | 0.954 | |
acm4_human | 414 | 6.49x49 | TM6 | T => M | missense | 2.495e-05 | 3 | 120242 | 0 | 0.01 | 0.999 | |
acm4_human | 411 | 6.46x46 | TM6 | L => F | missense | 8.313e-06 | 1 | 120296 | 0 | 0.01 | 0.02 | |
acm4_human | 396 | 6.31x31 | TM6 | R => C | missense | 8.338e-06 | 1 | 119926 | 0 | 0.0 | 0.969 | |
acm4_human | 394 | 6.29x29 | TM6 | R => W | missense | 8.341e-06 | 1 | 119896 | 0 | 0.02 | 0.979 | GP (contact) |
acm4_human | 393 | 6.28x28 | TM6 | A => V | missense | 8.344e-06 | 1 | 119850 | 0 | 1.0 | 0.643 | GP (contact) |
acm4_human | 393 | 6.28x28 | TM6 | A => D | missense | 8.344e-06 | 1 | 119850 | 0 | 0.03 | 0.889 | GP (contact) |
acm4_human | 389 | 6.24x24 | TM6 | R => Q | missense | 8.342e-06 | 1 | 119882 | 0 | 0.01 | 0.658 | |
acm4_human | 386 | ICL3 | R => H | missense | 8.34e-06 | 1 | 119906 | 0 | 0.04 | 0.93 | ||
acm4_human | 384 | ICL3 | Q => E | missense | 8.337e-06 | 1 | 119952 | 0 | 0.3 | 0.101 | ||
acm4_human | 378 | ICL3 | A => T | missense | 1.668e-05 | 2 | 119898 | 0 | 0.21 | 0.643 | ||
acm4_human | 375 | ICL3 | R => L | missense | 8.344e-06 | 1 | 119842 | 0 | 0.13 | 0.77 | ||
acm4_human | 375 | ICL3 | R => H | missense | 8.344e-06 | 1 | 119842 | 0 | 0.02 | 0.973 | ||
acm4_human | 375 | ICL3 | R => C | missense | 8.349e-06 | 1 | 119778 | 0 | 0.01 | 0.745 | ||
acm4_human | 373 | ICL3 | V => M | missense | 2.505e-05 | 3 | 119780 | 0 | 0.25 | 0.992 | ||
acm4_human | 370 | ICL3 | A => V | missense | 8.363e-06 | 1 | 119572 | 0 | 0.24 | 0.227 | ||
acm4_human | 368 | ICL3 | R => H | missense | 1.677e-05 | 2 | 119270 | 0 | 0.1 | 0.066 | ||
acm4_human | 368 | ICL3 | R => C | missense | 8.384e-06 | 1 | 119278 | 0 | 0.03 | 0.892 | ||
acm4_human | 367 | ICL3 | M => T | missense | 0.0001175 | 14 | 119112 | 0 | 0.57 | 0.0 | ||
acm4_human | 364 | ICL3 | P => L | missense | 4.234e-05 | 5 | 118096 | 0 | 0.28 | 0.066 | ||
acm4_human | 364 | ICL3 | P => Q | missense | 2.54e-05 | 3 | 118096 | 0 | 0.33 | 0.339 | ||
acm4_human | 363 | ICL3 | T => M | missense | 6.778e-05 | 8 | 118024 | 0 | 0.1 | 0.153 | ||
acm4_human | 362 | ICL3 | A => V | missense | 8.487e-06 | 1 | 117824 | 0 | 0.26 | 0.216 | ||
acm4_human | 359 | ICL3 | I => T | missense | 8.539e-06 | 1 | 117108 | 0 | 0.33 | 0.145 | ||
acm4_human | 350 | ICL3 | G => S | missense | 8.727e-06 | 1 | 114590 | 0 | 0.23 | 0.88 | ||
acm4_human | 349 | ICL3 | T => R | missense | 8.743e-06 | 1 | 114372 | 0 | 0.48 | 0.296 | ||
acm4_human | 346 | ICL3 | T => M | missense | 7.923e-05 | 9 | 113590 | 0 | 0.04 | 0.998 | ||
acm4_human | 344 | ICL3 | I => T | missense | 8.829e-06 | 1 | 113264 | 0 | 0.26 | 0.395 | ||
acm4_human | 341 | ICL3 | K => R | missense | 8.886e-06 | 1 | 112540 | 0 | 0.33 | 0.159 | ||
acm4_human | 331 | ICL3 | R => Q | missense | 9.053e-06 | 1 | 110460 | 0 | 0.6 | 0.066 | ||
acm4_human | 331 | ICL3 | R => P | missense | 9.053e-06 | 1 | 110460 | 0 | 0.29 | 0.023 | ||
acm4_human | 328 | ICL3 | L => P | missense | 9.086e-06 | 1 | 110060 | 0 | 0.28 | 0.006 | ||
acm4_human | 327 | ICL3 | P => L | missense | 9.103e-06 | 1 | 109858 | 0 | 0.11 | 0.001 | ||
acm4_human | 326 | ICL3 | P => L | missense | 9.106e-06 | 1 | 109818 | 0 | 0.4 | 0.145 | ||
acm4_human | 323 | ICL3 | M => V | missense | 9.181e-06 | 1 | 108924 | 0 | 0.68 | 0.0 | ||
acm4_human | 322 | ICL3 | A => S | missense | 9.186e-06 | 1 | 108864 | 0 | 0.89 | 0.007 | ||
acm4_human | 322 | ICL3 | A => T | missense | 1.837e-05 | 2 | 108864 | 0 | 0.62 | 0.013 | ||
acm4_human | 316 | ICL3 | T => P | missense | 9.218e-06 | 1 | 108484 | 0 | 0.31 | 0.005 | ||
acm4_human | 308 | ICL3 | R => H | missense | 9.256e-06 | 1 | 108040 | 0 | 0.11 | 0.666 | ||
acm4_human | 308 | ICL3 | R => C | missense | 1.852e-05 | 2 | 107994 | 0 | 0.06 | 0.86 | ||
acm4_human | 304 | ICL3 | N => D | missense | 9.273e-06 | 1 | 107844 | 0 | 0.54 | 0.247 | ||
acm4_human | 287 | ICL3 | V => M | missense | 9.615e-06 | 1 | 104008 | 0 | 0.24 | 0.029 | ||
acm4_human | 285 | ICL3 | R => H | missense | 9.772e-06 | 1 | 102332 | 0 | 0.19 | 0.734 | ||
acm4_human | 285 | ICL3 | R => C | missense | 5.956e-05 | 6 | 100746 | 0 | 0.05 | 0.022 | ||
acm4_human | 282 | ICL3 | P => L | missense | 6.1e-05 | 6 | 98356 | 0 | 0.27 | 0.005 | ||
acm4_human | 279 | ICL3 | A => V | missense | 4.348e-05 | 4 | 92004 | 0 | 0.18 | 0.013 | ||
acm4_human | 277 | ICL3 | P => R | missense | 3.418e-05 | 3 | 87766 | 0 | 0.55 | 0.029 | ||
acm4_human | 277 | ICL3 | P => L | missense | 1.139e-05 | 1 | 87766 | 0 | 0.32 | 0.004 | ||
acm4_human | 276 | ICL3 | P => L | missense | 1.128e-05 | 1 | 88616 | 0 | 0.3 | 0.016 | ||
acm4_human | 275 | ICL3 | A => V | missense | 1.16e-05 | 1 | 86204 | 0 | 0.3 | 0.021 | ||
acm4_human | 273 | ICL3 | E => D | missense | 1.174e-05 | 1 | 85156 | 0 | 0.59 | 0.006 | ||
acm4_human | 268 | ICL3 | R => C | missense | 1.27e-05 | 1 | 78764 | 0 | 0.08 | 0.892 | ||
acm4_human | 266 | ICL3 | E => K | missense | 1.312e-05 | 1 | 76222 | 0 | 0.9 | 0.034 | ||
acm4_human | 265 | ICL3 | E => G | missense | 1.321e-05 | 1 | 75720 | 0 | 0.22 | 0.012 | ||
acm4_human | 265 | ICL3 | E => K | missense | 6.638e-05 | 5 | 75328 | 0 | 0.41 | 0.012 | ||
acm4_human | 264 | ICL3 | R => Q | missense | 9.372e-05 | 7 | 74688 | 0 | 0.65 | 0.017 | ||
acm4_human | 264 | ICL3 | R => P | missense | 1.339e-05 | 1 | 74688 | 0 | 0.27 | 0.009 | ||
acm4_human | 263 | ICL3 | A => T | missense | 6.835e-05 | 5 | 73152 | 0 | 0.75 | 0.108 | ||
acm4_human | 262 | ICL3 | A => V | missense | 1.38e-05 | 1 | 72450 | 0 | 0.42 | 0.012 | ||
acm4_human | 260 | ICL3 | G => R | missense | 5.621e-05 | 4 | 71156 | 0 | 0.58 | 0.005 | ||
acm4_human | 258 | ICL3 | P => L | missense | 8.451e-05 | 6 | 71000 | 0 | 0.18 | 0.77 | ||
acm4_human | 254 | ICL3 | V => I | missense | 0.0001973 | 14 | 70958 | 0 | 0.31 | 0.008 | ||
acm4_human | 246 | ICL3 | K => E | missense | 1.368e-05 | 1 | 73074 | 0 | 0.27 | 0.009 | ||
acm4_human | 238 | ICL3 | K => Q | missense | 1.285e-05 | 1 | 77816 | 0 | 0.56 | 0.038 | ||
acm4_human | 236 | ICL3 | E => K | missense | 5.077e-05 | 4 | 78784 | 0 | 0.59 | 0.021 | ||
acm4_human | 234 | ICL3 | P => R | missense | 3.742e-05 | 3 | 80176 | 0 | 0.54 | 0.01 | ||
acm4_human | 234 | ICL3 | P => S | missense | 3.709e-05 | 3 | 80892 | 0 | 0.8 | 0.017 | ||
acm4_human | 232 | 5.75x75 | TM5 | E => K | missense | 7.262e-05 | 6 | 82620 | 0 | 0.67 | 0.13 | GP (contact) |
acm4_human | 230 | 5.73x73 | TM5 | R => W | missense | 5.814e-05 | 5 | 85998 | 0 | 0.01 | 0.948 | |
acm4_human | 229 | 5.72x72 | TM5 | H => R | missense | 1.141e-05 | 1 | 87626 | 0 | 0.39 | 0.216 | GP (contact) |
acm4_human | 228 | 5.71x71 | TM5 | K => N | missense | 1.132e-05 | 1 | 88350 | 0 | 0.06 | 0.876 | GP (contact) |
acm4_human | 226 | 5.69x69 | TM5 | V => A | missense | 1.105e-05 | 1 | 90494 | 0 | 0.01 | 0.902 | GP (contact) |
acm4_human | 225 | 5.68x68 | TM5 | R => Q | missense | 1.095e-05 | 1 | 91290 | 0 | 0.0 | 0.924 | GP (contact) |
acm4_human | 223 | 5.66x66 | TM5 | R => C | missense | 1.055e-05 | 1 | 94810 | 0 | 0.0 | 0.973 | GP (contact) |
acm4_human | 201 | 5.44x45 | TM5 | I => T | missense | 9.11e-06 | 1 | 109770 | 0 | 0.0 | 0.98 | |
acm4_human | 194 | 5.37x38 | TM5 | A => V | missense | 8.914e-06 | 1 | 112180 | 0 | 1.0 | 0.764 | |
acm4_human | 184 | ECL2 | Q => R | missense | 8.757e-06 | 1 | 114198 | 0 | 0.0 | 0.063 | ||
acm4_human | 183 | ECL2 | N => K | missense | 8.753e-06 | 1 | 114252 | 0 | 0.3 | 0.01 | ||
acm4_human | 182 | ECL2 | D => N | missense | 8.761e-06 | 1 | 114142 | 0 | 0.05 | 0.42 | ||
acm4_human | 155 | 4.48x48 | TM4 | A => V | missense | 8.641e-06 | 1 | 115724 | 0 | 0.13 | 0.443 | |
acm4_human | 155 | 4.48x48 | TM4 | A => T | missense | 8.638e-06 | 1 | 115770 | 0 | 0.06 | 0.938 | |
acm4_human | 143 | 34.56x56 | ICL2 | R => Q | missense | 2.561e-05 | 3 | 117122 | 0 | 0.0 | 0.557 | GP (contact) |
acm4_human | 143 | 34.56x56 | ICL2 | R => W | missense | 8.538e-06 | 1 | 117126 | 0 | 0.0 | 0.427 | GP (contact) |
acm4_human | 134 | 3.54x54 | TM3 | V => I | missense | 8.461e-06 | 1 | 118184 | 0 | 0.78 | 0.958 | GP (contact) |
acm4_human | 114 | 3.34x34 | TM3 | V => M | missense | 8.347e-06 | 1 | 119808 | 0 | 0.0 | 0.999 | |
acm4_human | 102 | 3.22x22 | TM3 | A => G | missense | 8.334e-06 | 1 | 119992 | 0 | 0.24 | 0.854 | |
acm4_human | 102 | 3.22x22 | TM3 | A => T | missense | 8.333e-06 | 1 | 119998 | 0 | 1.0 | 0.354 | |
acm4_human | 97 | 23.49x49 | ECL1 | Y => F | missense | 8.33e-06 | 1 | 120046 | 0 | 0.08 | 0.049 | |
acm4_human | 93 | 2.65x64 | TM2 | I => T | missense | 8.329e-06 | 1 | 120058 | 0 | 0.06 | 0.145 | LB (polar (hydrogen bond with backbone), Van der Waals) |
acm4_human | 91 | 2.63x62 | TM2 | V => A | missense | 8.33e-06 | 1 | 120052 | 0 | 0.18 | 0.887 | |
acm4_human | 83 | 2.55x55 | TM2 | A => V | missense | 4.997e-05 | 6 | 120062 | 0 | 1.0 | 0.004 | |
acm4_human | 83 | 2.55x55 | TM2 | A => G | missense | 8.329e-06 | 1 | 120062 | 0 | 0.0 | 0.646 | |
acm4_human | 83 | 2.55x55 | TM2 | A => T | missense | 8.332e-06 | 1 | 120026 | 0 | 0.08 | 0.403 | |
acm4_human | 69 | 2.41x41 | TM2 | Y => N | missense | 8.326e-06 | 1 | 120104 | 0 | 0.0 | 1.0 | |
acm4_human | 58 | 1.58x58 | TM1 | K => N | missense | 8.322e-06 | 1 | 120170 | 0 | 0.0 | 0.951 | |
acm4_human | 42 | 1.42x42 | TM1 | L => Q | missense | 8.309e-06 | 1 | 120356 | 0 | 0.0 | 0.996 | |
acm4_human | 35 | 1.35x35 | TM1 | I => T | missense | 8.306e-06 | 1 | 120398 | 0 | 0.0 | 0.992 | |
acm4_human | 34 | 1.34x34 | TM1 | F => L | missense | 8.306e-06 | 1 | 120402 | 0 | 1.0 | 0.071 | |
acm4_human | 29 | 1.29x29 | TM1 | T => M | missense | 0.0002908 | 35 | 120374 | 0 | 0.1 | 0.368 | |
acm4_human | 26 | 1.26x26 | TM1 | R => H | missense | 1.661e-05 | 2 | 120382 | 0 | 0.28 | 0.003 | |
acm4_human | 20 | N-term | T => M | missense | 0.0001995 | 24 | 120288 | 0 | 0.1 | 0.191 | ||
acm4_human | 18 | N-term | L => M | missense | 8.317e-06 | 1 | 120236 | 0 | 0.24 | 0.129 | ||
acm4_human | 17 | N-term | R => H | missense | 1.664e-05 | 2 | 120228 | 0 | 0.13 | 0.001 | ||
acm4_human | 16 | N-term | V => M | missense | 8.322e-05 | 10 | 120160 | 0 | 0.16 | 0.015 | ||
acm4_human | 15 | N-term | S => P | missense | 8.326e-06 | 1 | 120112 | 0 | 0.03 | 0.543 | ||
acm4_human | 14 | N-term | Q => P | missense | 8.332e-06 | 1 | 120014 | 0 | 0.27 | 0.003 | ||
acm4_human | 13 | N-term | N => H | missense | 8.346e-06 | 1 | 119816 | 0 | 0.01 | 0.641 | ||
acm4_human | 11 | N-term | S => W | missense | 8.35e-06 | 1 | 119764 | 0 | 0.12 | 0.002 |
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