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 |
acm3_human | 588 | C-term | Q => Ter | stop gained | 9.015e-06 | 1 | 110922 | 0 | None | None | ||
acm3_human | 9 | N-term | T => A | missense | 8.358e-06 | 1 | 119642 | 0 | nan | 0.0 | ||
acm3_human | 10 | N-term | S => L | missense | 2.502e-05 | 3 | 119916 | 0 | nan | 0.001 | ||
acm3_human | 15 | N-term | N => S | missense | 1.657e-05 | 2 | 120720 | 0 | nan | 0.4 | ||
acm3_human | 22 | N-term | H => P | missense | 8.262e-06 | 1 | 121038 | 0 | nan | 0.0 | ||
acm3_human | 23 | N-term | S => G | missense | 8.26e-06 | 1 | 121066 | 0 | nan | 0.0 | ||
acm3_human | 26 | N-term | D => N | missense | 4.952e-05 | 6 | 121168 | 0 | nan | 0.002 | ||
acm3_human | 26 | N-term | D => E | missense | 0.0002145 | 26 | 121198 | 0 | 1.0 | 0.0 | ||
acm3_human | 27 | N-term | A => S | missense | 0.000165 | 20 | 121212 | 0 | nan | 0.0 | ||
acm3_human | 28 | N-term | G => A | missense | 8.248e-06 | 1 | 121244 | 0 | nan | 0.075 | ||
acm3_human | 34 | N-term | V => I | missense | 1.648e-05 | 2 | 121368 | 0 | nan | 0.001 | ||
acm3_human | 37 | N-term | F => L | missense | 4.943e-05 | 6 | 121388 | 0 | nan | 0.0 | ||
acm3_human | 38 | N-term | G => S | missense | 8.238e-06 | 1 | 121382 | 0 | nan | 0.002 | ||
acm3_human | 41 | N-term | N => S | missense | 5.766e-05 | 7 | 121404 | 0 | 0.04 | 0.006 | ||
acm3_human | 44 | N-term | R => G | missense | 8.237e-06 | 1 | 121406 | 0 | 0.4 | 0.0 | ||
acm3_human | 44 | N-term | R => Q | missense | 5.766e-05 | 7 | 121400 | 0 | 0.8 | 0.0 | ||
acm3_human | 44 | N-term | R => L | missense | 8.237e-06 | 1 | 121400 | 0 | 0.33 | 0.003 | ||
acm3_human | 45 | N-term | A => E | missense | 8.237e-06 | 1 | 121408 | 0 | 0.61 | 0.001 | ||
acm3_human | 49 | N-term | F => L | missense | 1.647e-05 | 2 | 121406 | 0 | 0.76 | 0.0 | ||
acm3_human | 53 | N-term | D => G | missense | 8.237e-06 | 1 | 121408 | 0 | 0.23 | 0.0 | ||
acm3_human | 53 | N-term | D => E | missense | 8.237e-06 | 1 | 121406 | 0 | 0.68 | 0.001 | ||
acm3_human | 54 | N-term | G => C | missense | 8.237e-06 | 1 | 121402 | 0 | 0.01 | 0.018 | ||
acm3_human | 54 | N-term | G => S | missense | 8.237e-06 | 1 | 121402 | 0 | 0.4 | 0.001 | ||
acm3_human | 54 | N-term | G => V | missense | 4.118e-05 | 5 | 121406 | 0 | 0.11 | 0.001 | ||
acm3_human | 57 | N-term | D => N | missense | 2.471e-05 | 3 | 121410 | 0 | 0.39 | 0.001 | ||
acm3_human | 57 | N-term | D => E | missense | 8.237e-06 | 1 | 121408 | 0 | 0.43 | 0.001 | ||
acm3_human | 59 | N-term | P => L | missense | 7.413e-05 | 9 | 121408 | 0 | 0.13 | 0.055 | ||
acm3_human | 65 | 1.29x29 | TM1 | V => I | missense | 0.01802 | 2188 | 121410 | 31 | 0.29 | 0.001 | |
acm3_human | 72 | 1.36x36 | TM1 | A => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.01 | 0.441 | |
acm3_human | 74 | 1.38x38 | TM1 | L => S | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.253 | |
acm3_human | 84 | 1.48x48 | TM1 | I => V | missense | 8.238e-06 | 1 | 121392 | 0 | 1.0 | 0.008 | |
acm3_human | 100 | 12.51x51 | ICL1 | K => R | missense | 8.238e-06 | 1 | 121388 | 0 | 0.01 | 0.22 | |
acm3_human | 103 | 2.39x39 | TM2 | N => S | missense | 1.648e-05 | 2 | 121388 | 1 | 0.02 | 0.571 | |
acm3_human | 110 | 2.46x46 | TM2 | L => R | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 1.0 | |
acm3_human | 111 | 2.47x47 | TM2 | A => V | missense | 8.238e-06 | 1 | 121388 | 0 | 0.0 | 1.0 | |
acm3_human | 115 | 2.51x51 | TM2 | L => V | missense | 8.238e-06 | 1 | 121390 | 0 | 0.02 | 0.954 | |
acm3_human | 120 | 2.56x551 | TM2 | I => N | missense | 8.237e-06 | 1 | 121398 | 0 | 0.01 | 0.895 | |
acm3_human | 138 | 3.22x22 | TM3 | N => S | missense | 8.237e-06 | 1 | 121404 | 0 | 0.78 | 0.013 | |
acm3_human | 146 | 3.30x30 | TM3 | A => T | missense | 1.647e-05 | 2 | 121408 | 0 | 0.03 | 0.201 | |
acm3_human | 171 | 3.55x55 | TM3 | T => M | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.998 | GP (contact) |
acm3_human | 175 | 34.52x52 | ICL2 | T => M | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 0.985 | GP (contact) |
acm3_human | 177 | 34.54x54 | ICL2 | R => P | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.574 | GP (contact) |
acm3_human | 183 | 4.40x40 | TM4 | K => Q | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.655 | |
acm3_human | 186 | 4.43x43 | TM4 | G => V | missense | 1.647e-05 | 2 | 121406 | 0 | 0.04 | 0.355 | |
acm3_human | 186 | 4.43x43 | TM4 | G => A | missense | 8.237e-06 | 1 | 121406 | 0 | 0.58 | 0.057 | |
acm3_human | 190 | 4.47x47 | TM4 | G => R | missense | 1.647e-05 | 2 | 121404 | 0 | 0.0 | 0.991 | |
acm3_human | 190 | 4.47x47 | TM4 | G => S | missense | 1.647e-05 | 2 | 121404 | 0 | 0.04 | 0.402 | |
acm3_human | 197 | 4.54x54 | TM4 | F => L | missense | 2.471e-05 | 3 | 121400 | 0 | 0.3 | 0.022 | |
acm3_human | 206 | 4.63x63 | TM4 | F => L | missense | 8.237e-06 | 1 | 121400 | 0 | 0.66 | 0.151 | |
acm3_human | 218 | ECL2 | P => L | missense | 8.237e-06 | 1 | 121400 | 0 | 0.07 | 0.017 | ||
acm3_human | 227 | ECL2 | S => R | missense | 8.238e-06 | 1 | 121394 | 0 | 0.0 | 0.356 | ||
acm3_human | 232 | 5.39x40 | TM5 | T => I | missense | 8.238e-06 | 1 | 121382 | 0 | 0.0 | 0.963 | LB (Van der Waals) |
acm3_human | 242 | 5.49x49 | TM5 | M => I | missense | 8.255e-06 | 1 | 121146 | 0 | 0.48 | 0.002 | |
acm3_human | 253 | 5.60x60 | TM5 | R => K | missense | 8.272e-06 | 1 | 120888 | 0 | 0.19 | 0.49 | |
acm3_human | 261 | 5.68x68 | TM5 | R => H | missense | 8.28e-06 | 1 | 120766 | 0 | 0.0 | 0.965 | GP (contact) |
acm3_human | 269 | ICL3 | Q => R | missense | 8.288e-06 | 1 | 120662 | 0 | 0.05 | 0.515 | ||
acm3_human | 270 | ICL3 | A => T | missense | 8.288e-06 | 1 | 120658 | 0 | 0.0 | 0.945 | ||
acm3_human | 274 | ICL3 | E => Q | missense | 8.29e-06 | 1 | 120628 | 0 | 0.52 | 0.027 | ||
acm3_human | 276 | ICL3 | E => D | missense | 0.0001078 | 13 | 120624 | 0 | 0.21 | 0.036 | ||
acm3_human | 278 | ICL3 | E => K | missense | 8.29e-06 | 1 | 120622 | 0 | 0.77 | 0.007 | ||
acm3_human | 281 | ICL3 | V => A | missense | 2.488e-05 | 3 | 120576 | 0 | 0.8 | 0.044 | ||
acm3_human | 281 | ICL3 | V => D | missense | 8.294e-06 | 1 | 120576 | 0 | 0.61 | 0.024 | ||
acm3_human | 282 | ICL3 | H => P | missense | 8.294e-06 | 1 | 120562 | 0 | 0.5 | 0.0 | ||
acm3_human | 282 | ICL3 | H => Q | missense | 2.488e-05 | 3 | 120564 | 0 | 0.66 | 0.003 | ||
acm3_human | 284 | ICL3 | T => M | missense | 6.636e-05 | 8 | 120554 | 0 | 0.06 | 0.123 | ||
acm3_human | 288 | ICL3 | R => Q | missense | 8.291e-06 | 1 | 120608 | 0 | 0.17 | 0.422 | ||
acm3_human | 290 | ICL3 | C => Y | missense | 8.29e-06 | 1 | 120630 | 0 | 0.0 | 0.027 | ||
acm3_human | 294 | ICL3 | E => K | missense | 2.486e-05 | 3 | 120670 | 0 | 0.39 | 0.046 | ||
acm3_human | 294 | ICL3 | E => Q | missense | 8.287e-06 | 1 | 120670 | 0 | 0.13 | 0.078 | ||
acm3_human | 300 | ICL3 | M => K | missense | 9.115e-05 | 11 | 120676 | 0 | 0.82 | 0.0 | ||
acm3_human | 302 | ICL3 | R => C | missense | 1.657e-05 | 2 | 120676 | 0 | 0.01 | 0.505 | ||
acm3_human | 302 | ICL3 | R => H | missense | 8.287e-06 | 1 | 120668 | 0 | 0.13 | 0.005 | ||
acm3_human | 305 | ICL3 | R => G | missense | 8.289e-06 | 1 | 120646 | 0 | 0.38 | 0.005 | ||
acm3_human | 306 | ICL3 | R => S | missense | 1.658e-05 | 2 | 120628 | 0 | 0.56 | 0.002 | ||
acm3_human | 308 | ICL3 | Y => H | missense | 8.295e-06 | 1 | 120552 | 0 | 0.54 | 0.001 | ||
acm3_human | 308 | ICL3 | Y => C | missense | 8.295e-06 | 1 | 120554 | 0 | 0.18 | 0.001 | ||
acm3_human | 310 | ICL3 | R => C | missense | 5.809e-05 | 7 | 120502 | 0 | 0.13 | 0.002 | ||
acm3_human | 318 | ICL3 | K => Q | missense | 8.336e-06 | 1 | 119962 | 0 | 0.36 | 0.126 | ||
acm3_human | 318 | ICL3 | K => N | missense | 8.337e-06 | 1 | 119952 | 0 | 0.26 | 0.016 | ||
acm3_human | 322 | ICL3 | P => R | missense | 8.382e-06 | 1 | 119310 | 0 | 0.08 | 0.016 | ||
acm3_human | 323 | ICL3 | S => T | missense | 8.394e-06 | 1 | 119136 | 0 | 0.16 | 0.003 | ||
acm3_human | 325 | ICL3 | E => K | missense | 1.683e-05 | 2 | 118818 | 0 | 0.88 | 0.003 | ||
acm3_human | 329 | ICL3 | Q => R | missense | 8.478e-06 | 1 | 117950 | 0 | 0.52 | 0.013 | ||
acm3_human | 334 | ICL3 | S => T | missense | 8.708e-06 | 1 | 114842 | 0 | 0.16 | 0.101 | ||
acm3_human | 338 | ICL3 | N => D | missense | 8.98e-06 | 1 | 111358 | 0 | 0.1 | 0.223 | ||
acm3_human | 339 | ICL3 | N => T | missense | 9.124e-06 | 1 | 109606 | 0 | 0.09 | 0.312 | ||
acm3_human | 339 | ICL3 | N => K | missense | 4.593e-05 | 5 | 108866 | 0 | 0.64 | 0.101 | ||
acm3_human | 353 | ICL3 | D => N | missense | 1.142e-05 | 1 | 87538 | 0 | 0.02 | 0.418 | ||
acm3_human | 357 | ICL3 | I => V | missense | 1.19e-05 | 1 | 84052 | 0 | 0.33 | 0.016 | ||
acm3_human | 360 | ICL3 | E => K | missense | 1.249e-05 | 1 | 80054 | 0 | 0.32 | 0.227 | ||
acm3_human | 361 | ICL3 | T => M | missense | 2.524e-05 | 2 | 79252 | 0 | 0.09 | 0.34 | ||
acm3_human | 376 | ICL3 | T => A | missense | 1.316e-05 | 1 | 75978 | 0 | 1.0 | 0.001 | ||
acm3_human | 379 | ICL3 | N => T | missense | 3.899e-05 | 3 | 76946 | 0 | 0.11 | 0.044 | ||
acm3_human | 379 | ICL3 | N => S | missense | 1.3e-05 | 1 | 76946 | 0 | 0.2 | 0.079 | ||
acm3_human | 390 | ICL3 | Q => H | missense | 1.141e-05 | 1 | 87670 | 0 | 0.19 | 0.005 | ||
acm3_human | 396 | ICL3 | L => M | missense | 0.0006454 | 61 | 94514 | 0 | 0.23 | 0.063 | ||
acm3_human | 401 | ICL3 | L => M | missense | 4.003e-05 | 4 | 99932 | 0 | 0.13 | 0.005 | ||
acm3_human | 403 | ICL3 | R => K | missense | 9.847e-06 | 1 | 101552 | 0 | 1.0 | 0.001 | ||
acm3_human | 405 | ICL3 | A => V | missense | 1.951e-05 | 2 | 102494 | 0 | 0.3 | 0.063 | ||
acm3_human | 406 | ICL3 | D => N | missense | 3.879e-05 | 4 | 103122 | 0 | 0.58 | 0.003 | ||
acm3_human | 406 | ICL3 | D => G | missense | 9.664e-06 | 1 | 103480 | 0 | 0.43 | 0.0 | ||
acm3_human | 410 | ICL3 | A => S | missense | 9.527e-06 | 1 | 104970 | 0 | 1.0 | 0.001 | ||
acm3_human | 410 | ICL3 | A => V | missense | 9.516e-06 | 1 | 105086 | 0 | 0.19 | 0.003 | ||
acm3_human | 414 | ICL3 | V => M | missense | 5.652e-05 | 6 | 106154 | 0 | 0.14 | 0.006 | ||
acm3_human | 415 | ICL3 | D => H | missense | 1.877e-05 | 2 | 106576 | 0 | 0.14 | 0.315 | ||
acm3_human | 416 | ICL3 | D => N | missense | 7.493e-05 | 8 | 106772 | 0 | 0.68 | 0.067 | ||
acm3_human | 416 | ICL3 | D => E | missense | 9.32e-06 | 1 | 107300 | 0 | 0.59 | 0.003 | ||
acm3_human | 417 | ICL3 | G => E | missense | 9.301e-06 | 1 | 107516 | 0 | 1.0 | 0.016 | ||
acm3_human | 430 | ICL3 | Q => R | missense | 8.769e-05 | 10 | 114032 | 0 | 0.26 | 0.006 | ||
acm3_human | 430 | ICL3 | Q => H | missense | 2.629e-05 | 3 | 114102 | 0 | 0.11 | 0.063 | ||
acm3_human | 431 | ICL3 | L => V | missense | 8.751e-06 | 1 | 114274 | 0 | 0.45 | 0.026 | ||
acm3_human | 431 | ICL3 | L => P | missense | 0.00163 | 187 | 114692 | 2 | 0.33 | 0.004 | ||
acm3_human | 434 | ICL3 | A => G | missense | 1.726e-05 | 2 | 115884 | 0 | 0.35 | 0.005 | ||
acm3_human | 435 | ICL3 | V => M | missense | 0.000163 | 19 | 116598 | 0 | 0.25 | 0.023 | ||
acm3_human | 436 | ICL3 | D => A | missense | 8.516e-06 | 1 | 117430 | 0 | 0.49 | 0.007 | ||
acm3_human | 437 | ICL3 | T => A | missense | 8.495e-06 | 1 | 117714 | 0 | 0.9 | 0.003 | ||
acm3_human | 441 | ICL3 | S => F | missense | 8.403e-06 | 1 | 119004 | 0 | 0.04 | 0.285 | ||
acm3_human | 442 | ICL3 | D => E | missense | 1.676e-05 | 2 | 119320 | 0 | 0.91 | 0.003 | ||
acm3_human | 443 | ICL3 | V => I | missense | 0.0001172 | 14 | 119448 | 1 | 0.2 | 0.003 | ||
acm3_human | 444 | ICL3 | N => T | missense | 0.0001085 | 13 | 119788 | 0 | 0.63 | 0.001 | ||
acm3_human | 445 | ICL3 | S => F | missense | 3.333e-05 | 4 | 120026 | 0 | 0.0 | 0.063 | ||
acm3_human | 451 | ICL3 | T => M | missense | 0.0005219 | 63 | 120716 | 0 | 0.05 | 0.023 | ||
acm3_human | 452 | ICL3 | A => S | missense | 0.000149 | 18 | 120816 | 0 | 0.9 | 0.001 | ||
acm3_human | 459 | ICL3 | K => R | missense | 8.252e-06 | 1 | 121176 | 0 | 0.17 | 0.345 | ||
acm3_human | 461 | ICL3 | A => P | missense | 1.649e-05 | 2 | 121250 | 0 | 0.03 | 0.093 | ||
acm3_human | 461 | ICL3 | A => G | missense | 6.598e-05 | 8 | 121254 | 1 | 0.08 | 0.081 | ||
acm3_human | 465 | ICL3 | K => T | missense | 8.243e-06 | 1 | 121318 | 0 | 0.01 | 0.173 | ||
acm3_human | 468 | ICL3 | A => T | missense | 8.241e-06 | 1 | 121346 | 0 | 0.19 | 0.559 | ||
acm3_human | 469 | ICL3 | L => P | missense | 8.24e-06 | 1 | 121364 | 0 | 0.3 | 0.001 | ||
acm3_human | 471 | ICL3 | T => N | missense | 8.239e-06 | 1 | 121380 | 0 | 0.44 | 0.817 | ||
acm3_human | 472 | ICL3 | R => K | missense | 8.238e-06 | 1 | 121382 | 0 | 0.98 | 0.124 | ||
acm3_human | 473 | ICL3 | S => C | missense | 8.238e-06 | 1 | 121386 | 0 | 0.05 | 0.932 | ||
acm3_human | 478 | ICL3 | R => W | missense | 9.061e-05 | 11 | 121400 | 0 | 0.0 | 0.998 | ||
acm3_human | 478 | ICL3 | R => Q | missense | 2.471e-05 | 3 | 121402 | 0 | 0.02 | 0.786 | ||
acm3_human | 481 | 6.25x25 | TM6 | M => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.01 | 0.102 | GP (contact) |
acm3_human | 495 | 6.39x39 | TM6 | A => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.966 | |
acm3_human | 496 | 6.40x40 | TM6 | I => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.998 | GP (contact) |
acm3_human | 498 | 6.42x42 | TM6 | L => P | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.971 | |
acm3_human | 517 | 6.61x61 | TM6 | C => S | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.896 | |
acm3_human | 524 | 7.33x32 | TM7 | T => I | missense | 0.0002306 | 28 | 121402 | 0 | 0.06 | 0.082 | |
acm3_human | 535 | 7.44x43 | TM7 | I => L | missense | 1.648e-05 | 2 | 121386 | 0 | 0.01 | 0.431 | SodiumPocket MicroSwitch |
acm3_human | 539 | 7.48x48 | TM7 | V => A | missense | 8.239e-06 | 1 | 121378 | 0 | 0.0 | 0.902 | |
acm3_human | 542 | 7.51x51 | TM7 | V => M | missense | 8.24e-06 | 1 | 121360 | 0 | 1.0 | 0.027 | |
acm3_human | 562 | C-term | Q => H | missense | 1.653e-05 | 2 | 120984 | 0 | 0.05 | 0.019 | ||
acm3_human | 563 | C-term | C => Y | missense | 8.267e-06 | 1 | 120956 | 0 | 0.01 | 0.273 | ||
acm3_human | 569 | C-term | R => C | missense | 8.311e-06 | 1 | 120328 | 0 | 0.01 | 0.983 | ||
acm3_human | 569 | C-term | R => H | missense | 8.316e-06 | 1 | 120244 | 0 | 0.02 | 0.964 | ||
acm3_human | 570 | C-term | K => T | missense | 0.0001498 | 18 | 120146 | 0 | 0.01 | 0.316 | ||
acm3_human | 581 | C-term | F => L | missense | 8.6e-06 | 1 | 116280 | 0 | 0.05 | 0.002 | ||
acm3_human | 584 | C-term | R => C | missense | 8.777e-06 | 1 | 113940 | 0 | 0.04 | 0.01 | ||
acm3_human | 584 | C-term | R => H | missense | 4.411e-05 | 5 | 113358 | 0 | 0.09 | 0.66 | ||
acm3_human | 585 | C-term | A => T | missense | 0.000115 | 13 | 113008 | 0 | 0.14 | 0.0 | ||
acm3_human | 586 | C-term | P => L | missense | 8.927e-06 | 1 | 112022 | 0 | 0.0 | 0.743 | ||
acm3_human | 587 | C-term | E => K | missense | 2.685e-05 | 3 | 111730 | 0 | nan | 0.022 | ||
acm3_human | 589 | C-term | A => D | missense | 0.0001269 | 14 | 110312 | 0 | nan | 0.003 |
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