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 |
acm1_human | 458 | C-term | R => H | missense | 5.004e-05 | 6 | 119916 | 0 | nan | 0.001 | ||
acm1_human | 458 | C-term | R => C | missense | 1.664e-05 | 2 | 120216 | 0 | nan | 0.428 | ||
acm1_human | 454 | C-term | R => H | missense | 1.656e-05 | 2 | 120770 | 0 | nan | 0.522 | ||
acm1_human | 452 | C-term | V => M | missense | 1.652e-05 | 2 | 121080 | 0 | nan | 0.623 | ||
acm1_human | 451 | C-term | S => P | missense | 1.65e-05 | 2 | 121192 | 0 | nan | 0.307 | PTM (Phosphorylation) | |
acm1_human | 449 | C-term | P => L | missense | 8.246e-06 | 1 | 121268 | 0 | nan | 0.713 | ||
acm1_human | 448 | C-term | R => H | missense | 8.246e-06 | 1 | 121276 | 0 | nan | 0.522 | ||
acm1_human | 448 | C-term | R => C | missense | 8.244e-06 | 1 | 121296 | 0 | nan | 0.689 | ||
acm1_human | 444 | C-term | K => E | missense | 8.24e-06 | 1 | 121354 | 0 | nan | 0.292 | ||
acm1_human | 443 | C-term | R => H | missense | 8.24e-06 | 1 | 121356 | 0 | 0.01 | 0.202 | ||
acm1_human | 443 | C-term | R => C | missense | 8.24e-06 | 1 | 121362 | 0 | 0.0 | 0.255 | ||
acm1_human | 430 | 8.55x55 | H8 | R => G | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.079 | |
acm1_human | 426 | 8.51x51 | H8 | R => Q | missense | 8.237e-06 | 1 | 121398 | 0 | 0.16 | 0.602 | GP (contact) |
acm1_human | 426 | 8.51x51 | H8 | R => W | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.876 | GP (contact) |
acm1_human | 424 | 8.49x49 | H8 | A => G | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.066 | GP (contact) |
acm1_human | 420 | 7.55x55 | TM7 | L => I | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.636 | GP (contact) |
acm1_human | 409 | 7.44x43 | TM7 | V => G | missense | 2.471e-05 | 3 | 121402 | 0 | 0.0 | 0.908 | SodiumPocket MicroSwitch |
acm1_human | 407 | 7.42x41 | TM7 | C => W | missense | 9.885e-05 | 12 | 121400 | 0 | 0.0 | 0.963 | LB (hydrophobic, Van der Waals) |
acm1_human | 397 | 7.32x31 | TM7 | E => K | missense | 8.238e-06 | 1 | 121392 | 0 | 0.68 | 0.378 | LB (polar (charge-assisted hydrogen bond)) |
acm1_human | 392 | ECL3 | K => E | missense | 8.238e-06 | 1 | 121388 | 0 | 0.37 | 0.006 | ||
acm1_human | 361 | 6.31x31 | TM6 | K => R | missense | 8.247e-06 | 1 | 121262 | 0 | 0.31 | 0.874 | |
acm1_human | 356 | 6.26x26 | TM6 | S => L | missense | 8.258e-06 | 1 | 121102 | 0 | 0.25 | 0.003 | GP (contact) |
acm1_human | 354 | 6.24x24 | TM6 | T => N | missense | 7.437e-05 | 9 | 121020 | 0 | 0.58 | 0.291 | |
acm1_human | 353 | ICL3 | K => R | missense | 8.267e-06 | 1 | 120966 | 0 | 0.17 | 0.008 | ||
acm1_human | 344 | ICL3 | R => H | missense | 3.325e-05 | 4 | 120288 | 0 | 0.12 | 0.079 | ||
acm1_human | 339 | ICL3 | K => M | missense | 8.349e-06 | 1 | 119770 | 0 | 0.02 | 0.98 | PTM (Acetylation) | |
acm1_human | 338 | ICL3 | G => S | missense | 3.344e-05 | 4 | 119608 | 0 | 0.87 | 0.218 | ||
acm1_human | 337 | ICL3 | A => V | missense | 8.369e-06 | 1 | 119482 | 0 | 0.35 | 0.016 | ||
acm1_human | 334 | ICL3 | R => H | missense | 1.678e-05 | 2 | 119196 | 0 | 0.13 | 0.002 | ||
acm1_human | 329 | ICL3 | P => L | missense | 1.686e-05 | 2 | 118594 | 0 | 0.21 | 0.003 | ||
acm1_human | 329 | ICL3 | P => T | missense | 2.531e-05 | 3 | 118518 | 0 | 0.25 | 0.154 | ||
acm1_human | 329 | ICL3 | P => S | missense | 8.438e-06 | 1 | 118518 | 0 | 0.42 | 0.291 | ||
acm1_human | 324 | ICL3 | N => S | missense | 3.392e-05 | 4 | 117910 | 0 | 1.0 | 0.0 | ||
acm1_human | 320 | ICL3 | R => Q | missense | 3.411e-05 | 4 | 117266 | 0 | 0.55 | 0.16 | ||
acm1_human | 320 | ICL3 | R => W | missense | 1.706e-05 | 2 | 117200 | 0 | 0.01 | 0.748 | ||
acm1_human | 315 | ICL3 | T => I | missense | 8.574e-06 | 1 | 116626 | 0 | 0.22 | 0.0 | ||
acm1_human | 314 | ICL3 | P => T | missense | 8.581e-06 | 1 | 116540 | 0 | 0.31 | 0.117 | ||
acm1_human | 312 | ICL3 | Q => H | missense | 8.602e-06 | 1 | 116252 | 0 | 0.16 | 0.001 | ||
acm1_human | 310 | ICL3 | E => K | missense | 0.0001036 | 12 | 115838 | 0 | 0.79 | 0.163 | ||
acm1_human | 308 | ICL3 | D => E | missense | 2.589e-05 | 3 | 115858 | 0 | 0.62 | 0.001 | ||
acm1_human | 297 | ICL3 | G => C | missense | 8.619e-06 | 1 | 116024 | 0 | 0.07 | 0.802 | ||
acm1_human | 295 | ICL3 | E => K | missense | 1.721e-05 | 2 | 116184 | 0 | 0.52 | 0.874 | ||
acm1_human | 290 | ICL3 | S => F | missense | 4.281e-05 | 5 | 116808 | 0 | 0.01 | 0.951 | ||
acm1_human | 285 | ICL3 | M => V | missense | 3.391e-05 | 4 | 117956 | 0 | 0.65 | 0.0 | ||
acm1_human | 283 | ICL3 | G => V | missense | 3.384e-05 | 4 | 118218 | 0 | 0.07 | 0.451 | ||
acm1_human | 282 | ICL3 | E => K | missense | 8.445e-06 | 1 | 118420 | 0 | 0.36 | 0.123 | ||
acm1_human | 281 | ICL3 | D => N | missense | 8.434e-06 | 1 | 118574 | 0 | 0.41 | 0.278 | ||
acm1_human | 273 | ICL3 | S => N | missense | 8.445e-06 | 1 | 118408 | 0 | 0.12 | 0.213 | PTM (Phosphorylation) | |
acm1_human | 271 | ICL3 | A => T | missense | 5.086e-05 | 6 | 117966 | 0 | 0.6 | 0.001 | ||
acm1_human | 264 | ICL3 | R => Q | missense | 2.553e-05 | 3 | 117518 | 0 | 0.56 | 0.0 | ||
acm1_human | 264 | ICL3 | R => P | missense | 8.509e-06 | 1 | 117518 | 0 | 0.31 | 0.001 | ||
acm1_human | 264 | ICL3 | R => W | missense | 0.0001107 | 13 | 117476 | 1 | 0.02 | 0.0 | ||
acm1_human | 261 | ICL3 | R => H | missense | 8.518e-06 | 1 | 117394 | 0 | 0.14 | 0.002 | ||
acm1_human | 259 | ICL3 | C => F | missense | 5.113e-05 | 6 | 117350 | 0 | 0.72 | 0.0 | ||
acm1_human | 259 | ICL3 | C => R | missense | 8.522e-06 | 1 | 117346 | 0 | 0.47 | 0.0 | ||
acm1_human | 258 | ICL3 | R => H | missense | 8.522e-06 | 1 | 117340 | 0 | 0.06 | 0.501 | ||
acm1_human | 258 | ICL3 | R => C | missense | 1.704e-05 | 2 | 117354 | 0 | 0.02 | 0.575 | ||
acm1_human | 257 | ICL3 | G => A | missense | 8.519e-06 | 1 | 117378 | 0 | 0.81 | 0.0 | ||
acm1_human | 257 | ICL3 | G => C | missense | 8.522e-06 | 1 | 117338 | 0 | 0.1 | 0.014 | ||
acm1_human | 254 | ICL3 | T => I | missense | 8.517e-06 | 1 | 117412 | 0 | 0.25 | 0.0 | ||
acm1_human | 250 | ICL3 | G => D | missense | 8.518e-06 | 1 | 117398 | 0 | 0.77 | 0.0 | ||
acm1_human | 250 | ICL3 | G => S | missense | 8.514e-06 | 1 | 117454 | 0 | 0.97 | 0.0 | ||
acm1_human | 247 | ICL3 | G => E | missense | 8.509e-06 | 1 | 117522 | 0 | 0.54 | 0.001 | ||
acm1_human | 246 | ICL3 | P => L | missense | 1.701e-05 | 2 | 117552 | 0 | 0.06 | 0.0 | ||
acm1_human | 246 | ICL3 | P => S | missense | 8.505e-06 | 1 | 117574 | 0 | 0.36 | 0.0 | ||
acm1_human | 243 | ICL3 | R => K | missense | 2.547e-05 | 3 | 117770 | 0 | 0.71 | 0.002 | ||
acm1_human | 236 | ICL3 | G => S | missense | 8.448e-06 | 1 | 118366 | 0 | 0.84 | 0.117 | ||
acm1_human | 230 | ICL3 | T => M | missense | 8.385e-06 | 1 | 119266 | 0 | 0.1 | 0.76 | ||
acm1_human | 230 | ICL3 | T => A | missense | 8.382e-06 | 1 | 119310 | 0 | 0.38 | 0.102 | ||
acm1_human | 225 | 5.75x75 | TM5 | L => F | missense | 8.307e-06 | 1 | 120382 | 0 | 0.05 | 0.398 | GP (contact) |
acm1_human | 221 | 5.71x71 | TM5 | E => K | missense | 8.285e-06 | 1 | 120702 | 0 | 0.61 | 0.18 | GP (contact) |
acm1_human | 216 | 5.66x66 | TM5 | E => Q | missense | 8.264e-06 | 1 | 121000 | 0 | 0.28 | 0.137 | GP (contact) |
acm1_human | 213 | 5.63x63 | TM5 | R => Q | missense | 6.61e-05 | 8 | 121026 | 0 | 0.24 | 0.19 | |
acm1_human | 211 | 5.61x61 | TM5 | I => V | missense | 3.303e-05 | 4 | 121118 | 0 | 0.07 | 0.124 | GP (contact) |
acm1_human | 206 | 5.56x56 | TM5 | T => M | missense | 5.777e-05 | 7 | 121172 | 0 | 0.01 | 0.451 | |
acm1_human | 203 | 5.53x53 | TM5 | V => I | missense | 8.251e-06 | 1 | 121202 | 0 | 1.0 | 0.124 | |
acm1_human | 188 | 5.38x39 | TM5 | I => L | missense | 8.251e-06 | 1 | 121202 | 0 | 0.07 | 0.124 | |
acm1_human | 169 | 4.69x69 | TM4 | G => V | missense | 1.652e-05 | 2 | 121094 | 0 | 0.0 | 0.985 | |
acm1_human | 147 | 4.47x47 | TM4 | G => S | missense | 8.255e-06 | 1 | 121136 | 0 | 0.11 | 0.19 | |
acm1_human | 141 | 4.41x41 | TM4 | R => W | missense | 8.258e-06 | 1 | 121092 | 0 | 0.03 | 0.993 | |
acm1_human | 140 | 4.40x40 | TM4 | R => H | missense | 8.258e-06 | 1 | 121102 | 0 | 0.01 | 0.189 | |
acm1_human | 140 | 4.40x40 | TM4 | R => C | missense | 8.257e-06 | 1 | 121110 | 0 | 0.0 | 0.983 | |
acm1_human | 139 | 4.39x39 | TM4 | P => S | missense | 8.255e-06 | 1 | 121138 | 0 | 0.37 | 0.636 | |
acm1_human | 134 | 34.54x54 | ICL2 | R => H | missense | 8.254e-06 | 1 | 121156 | 0 | 0.0 | 0.997 | GP (contact) |
acm1_human | 94 | 3.21x21 | TM3 | G => V | missense | 8.244e-06 | 1 | 121306 | 0 | 0.0 | 1.0 | |
acm1_human | 90 | 23.49x49 | ECL1 | H => N | missense | 8.241e-06 | 1 | 121344 | 0 | 0.1 | 0.498 | |
acm1_human | 55 | 12.49x49 | ICL1 | E => K | missense | 8.237e-06 | 1 | 121402 | 0 | 0.05 | 0.038 | |
acm1_human | 54 | 12.48x48 | ICL1 | T => M | missense | 2.471e-05 | 3 | 121402 | 0 | 0.0 | 0.071 | |
acm1_human | 48 | 1.55x55 | TM1 | I => V | missense | 8.237e-06 | 1 | 121400 | 0 | 0.82 | 0.004 | |
acm1_human | 46 | 1.53x53 | TM1 | V => I | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.977 | |
acm1_human | 28 | 1.35x35 | TM1 | I => T | missense | 1.648e-05 | 2 | 121342 | 0 | 0.0 | 0.833 | |
acm1_human | 26 | 1.33x33 | TM1 | A => S | missense | 8.243e-06 | 1 | 121314 | 0 | 0.0 | 0.244 | |
acm1_human | 20 | N-term | K => N | missense | 8.249e-06 | 1 | 121222 | 0 | 0.02 | 0.213 | ||
acm1_human | 15 | N-term | V => I | missense | 4.134e-05 | 5 | 120956 | 0 | 0.27 | 0.056 | ||
acm1_human | 6 | N-term | P => L | missense | 1.676e-05 | 2 | 119318 | 0 | 0.28 | 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