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 |
acm5_human | 183 | 45.50x50 | ECL2 | C => Ter | stop gained | 3.295e-05 | 4 | 121400 | 0 | None | None | |
acm5_human | 210 | 5.55x55 | TM5 | T => AsnfsTer20 | frameshift | 8.24e-06 | 1 | 121360 | 0 | None | None | |
acm5_human | 215 | 5.60x60 | TM5 | R => Ter | stop gained | 1.648e-05 | 2 | 121330 | 0 | None | None | |
acm5_human | 220 | 5.65x65 | TM5 | T => AlafsTer7 | frameshift | 8.243e-06 | 1 | 121308 | 0 | None | None | GP (contact) |
acm5_human | 276 | ICL3 | R => LysfsTer23 | frameshift | 1.658e-05 | 2 | 120608 | 0 | None | None | ||
acm5_human | 336 | ICL3 | E => Ter | stop gained | 3.297e-05 | 4 | 121324 | 0 | None | None | ||
acm5_human | 429 | ICL3 | R => Ter | stop gained | 8.237e-06 | 1 | 121408 | 0 | None | None | ||
acm5_human | 518 | C-term | K => SerfsTer26 | frameshift | 1.664e-05 | 2 | 120204 | 0 | None | None | ||
acm5_human | 519 | C-term | V => TrpfsTer32 | frameshift | 8.319e-06 | 1 | 120204 | 0 | None | None | ||
acm5_human | 525 | C-term | W => Ter | stop gained | 8.767e-06 | 1 | 114060 | 0 | None | None | ||
acm5_human | 526 | C-term | Q => Ter | stop gained | 8.843e-06 | 1 | 113080 | 0 | None | None | ||
acm5_human | 6 | N-term | Y => H | missense | 8.625e-06 | 1 | 115946 | 0 | nan | 0.001 | ||
acm5_human | 6 | N-term | Y => C | missense | 8.612e-06 | 1 | 116116 | 0 | nan | 0.267 | ||
acm5_human | 9 | N-term | A => G | missense | 8.502e-06 | 1 | 117626 | 0 | nan | 0.021 | ||
acm5_human | 12 | N-term | V => I | missense | 1.68e-05 | 2 | 119080 | 0 | nan | 0.001 | ||
acm5_human | 13 | N-term | N => S | missense | 4.18e-05 | 5 | 119628 | 0 | nan | 0.477 | ||
acm5_human | 16 | N-term | P => S | missense | 0.000807 | 97 | 120204 | 1 | nan | 0.001 | ||
acm5_human | 16 | N-term | P => L | missense | 0.0001912 | 23 | 120262 | 1 | nan | 0.001 | ||
acm5_human | 19 | N-term | H => Q | missense | 8.274e-06 | 1 | 120866 | 0 | 0.33 | 0.003 | ||
acm5_human | 21 | N-term | P => S | missense | 8.264e-06 | 1 | 121002 | 0 | 0.03 | 0.002 | ||
acm5_human | 24 | N-term | R => C | missense | 8.251e-06 | 1 | 121202 | 0 | 0.0 | 0.28 | ||
acm5_human | 29 | 1.31x31 | TM1 | E => K | missense | 1.648e-05 | 2 | 121364 | 0 | 0.09 | 0.583 | |
acm5_human | 31 | 1.33x33 | TM1 | I => V | missense | 1.648e-05 | 2 | 121376 | 0 | 0.91 | 0.009 | |
acm5_human | 32 | 1.34x34 | TM1 | T => N | missense | 8.238e-06 | 1 | 121388 | 0 | 0.02 | 0.642 | |
acm5_human | 35 | 1.37x37 | TM1 | A => T | missense | 8.238e-06 | 1 | 121392 | 0 | 0.67 | 0.001 | |
acm5_human | 37 | 1.39x39 | TM1 | T => N | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.23 | |
acm5_human | 39 | 1.41x41 | TM1 | V => M | missense | 1.647e-05 | 2 | 121406 | 0 | 0.21 | 0.779 | |
acm5_human | 42 | 1.44x44 | TM1 | L => M | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.11 | |
acm5_human | 50 | 1.52x52 | TM1 | L => F | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.367 | |
acm5_human | 52 | 1.54x54 | TM1 | M => I | missense | 8.237e-06 | 1 | 121410 | 0 | 0.48 | 0.019 | |
acm5_human | 53 | 1.55x55 | TM1 | I => F | missense | 0.0005848 | 71 | 121410 | 1 | 0.03 | 0.47 | |
acm5_human | 54 | 1.56x56 | TM1 | S => P | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.961 | |
acm5_human | 61 | 12.50x50 | ICL1 | L => F | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 1.0 | |
acm5_human | 76 | 2.50x50 | TM2 | D => E | missense | 8.249e-06 | 1 | 121230 | 0 | 0.0 | 1.0 | |
acm5_human | 86 | 2.60x59 | TM2 | L => I | missense | 2.478e-05 | 3 | 121066 | 0 | 0.0 | 0.999 | |
acm5_human | 95 | 23.49x49 | ECL1 | R => C | missense | 1.652e-05 | 2 | 121098 | 0 | 0.02 | 0.893 | |
acm5_human | 98 | 23.52x52 | ECL1 | L => F | missense | 2.475e-05 | 3 | 121202 | 0 | 0.0 | 0.995 | |
acm5_human | 98 | 23.52x52 | ECL1 | L => P | missense | 8.251e-06 | 1 | 121200 | 0 | 0.01 | 0.651 | |
acm5_human | 102 | 3.24x24 | TM3 | A => V | missense | 8.242e-06 | 1 | 121336 | 0 | 0.11 | 0.992 | |
acm5_human | 104 | 3.26x26 | TM3 | D => H | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 1.0 | |
acm5_human | 106 | 3.28x28 | TM3 | W => R | missense | 8.239e-06 | 1 | 121370 | 0 | 0.0 | 1.0 | |
acm5_human | 109 | 3.31x31 | TM3 | L => P | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 0.98 | |
acm5_human | 112 | 3.34x34 | TM3 | V => M | missense | 1.648e-05 | 2 | 121388 | 0 | 0.0 | 1.0 | |
acm5_human | 119 | 3.41x41 | TM3 | M => L | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.997 | |
acm5_human | 125 | 3.47x47 | TM3 | S => N | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 1.0 | |
acm5_human | 128 | 3.50x50 | TM3 | R => C | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
acm5_human | 128 | 3.50x50 | TM3 | R => H | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
acm5_human | 139 | 34.54x54 | ICL2 | R => Q | missense | 2.471e-05 | 3 | 121410 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 139 | 34.54x54 | ICL2 | R => L | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 141 | 34.56x56 | ICL2 | K => M | missense | 3.295e-05 | 4 | 121408 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 142 | 34.57x57 | ICL2 | R => C | missense | 5.766e-05 | 7 | 121408 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 142 | 34.57x57 | ICL2 | R => G | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 144 | 4.39x39 | TM4 | P => L | missense | 8.237e-06 | 1 | 121408 | 0 | 0.01 | 1.0 | |
acm5_human | 145 | 4.40x40 | TM4 | K => E | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.838 | |
acm5_human | 167 | 4.62x62 | TM4 | L => F | missense | 9.061e-05 | 11 | 121406 | 0 | 0.0 | 0.908 | |
acm5_human | 176 | ECL2 | R => W | missense | 1.647e-05 | 2 | 121400 | 0 | 0.0 | 1.0 | ||
acm5_human | 176 | ECL2 | R => Q | missense | 2.471e-05 | 3 | 121402 | 0 | 0.02 | 0.997 | ||
acm5_human | 178 | ECL2 | V => D | missense | 3.295e-05 | 4 | 121402 | 0 | 0.0 | 1.0 | ||
acm5_human | 192 | 5.37x38 | TM5 | T => I | missense | 1.648e-05 | 2 | 121390 | 0 | 1.0 | 0.022 | |
acm5_human | 197 | 5.42x43 | TM5 | T => A | missense | 8.239e-06 | 1 | 121380 | 0 | 0.0 | 0.999 | |
acm5_human | 199 | 5.44x45 | TM5 | I => V | missense | 2.472e-05 | 3 | 121382 | 0 | 0.03 | 0.998 | |
acm5_human | 211 | 5.56x56 | TM5 | I => T | missense | 8.241e-06 | 1 | 121346 | 0 | 0.08 | 0.132 | |
acm5_human | 214 | 5.59x59 | TM5 | C => Y | missense | 8.242e-06 | 1 | 121332 | 0 | 0.02 | 0.988 | |
acm5_human | 215 | 5.60x60 | TM5 | R => Q | missense | 3.297e-05 | 4 | 121322 | 0 | 0.0 | 0.975 | |
acm5_human | 218 | 5.63x63 | TM5 | R => W | missense | 7.419e-05 | 9 | 121308 | 0 | 0.08 | 0.981 | |
acm5_human | 218 | 5.63x63 | TM5 | R => Q | missense | 1.649e-05 | 2 | 121302 | 0 | 0.21 | 0.558 | |
acm5_human | 219 | 5.64x64 | TM5 | E => K | missense | 8.244e-06 | 1 | 121298 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 227 | 5.72x72 | TM5 | L => P | missense | 8.249e-06 | 1 | 121224 | 0 | 0.0 | 1.0 | GP (contact) |
acm5_human | 229 | 5.74x74 | TM5 | D => E | missense | 1.65e-05 | 2 | 121206 | 0 | 0.81 | 0.014 | GP (contact) |
acm5_human | 230 | 5.75x75 | TM5 | L => F | missense | 4.126e-05 | 5 | 121192 | 0 | 0.05 | 1.0 | GP (contact) |
acm5_human | 232 | ICL3 | G => C | missense | 8.252e-06 | 1 | 121186 | 0 | 0.0 | 1.0 | ||
acm5_human | 241 | ICL3 | K => R | missense | 5.781e-05 | 7 | 121078 | 0 | 0.52 | 0.002 | ||
acm5_human | 242 | ICL3 | R => K | missense | 8.259e-06 | 1 | 121080 | 0 | 0.93 | 0.001 | ||
acm5_human | 255 | ICL3 | R => C | missense | 9.096e-05 | 11 | 120930 | 0 | 0.02 | 0.436 | ||
acm5_human | 255 | ICL3 | R => L | missense | 8.27e-06 | 1 | 120922 | 0 | 0.09 | 0.055 | ||
acm5_human | 255 | ICL3 | R => H | missense | 1.654e-05 | 2 | 120922 | 0 | 0.2 | 0.001 | ||
acm5_human | 258 | ICL3 | R => Q | missense | 8.274e-06 | 1 | 120864 | 0 | 0.8 | 0.002 | ||
acm5_human | 264 | ICL3 | R => W | missense | 8.279e-06 | 1 | 120782 | 0 | 0.01 | 0.79 | ||
acm5_human | 264 | ICL3 | R => Q | missense | 8.279e-06 | 1 | 120782 | 0 | 0.38 | 0.046 | ||
acm5_human | 266 | ICL3 | R => K | missense | 8.279e-06 | 1 | 120786 | 0 | 0.72 | 0.029 | ||
acm5_human | 268 | ICL3 | Q => K | missense | 1.656e-05 | 2 | 120746 | 0 | 0.57 | 0.403 | ||
acm5_human | 269 | ICL3 | A => P | missense | 1.657e-05 | 2 | 120736 | 0 | 0.31 | 0.895 | ||
acm5_human | 271 | ICL3 | W => S | missense | 8.285e-06 | 1 | 120702 | 0 | 0.1 | 1.0 | ||
acm5_human | 271 | ICL3 | W => C | missense | 8.286e-06 | 1 | 120688 | 0 | 0.1 | 1.0 | ||
acm5_human | 275 | ICL3 | R => C | missense | 2.487e-05 | 3 | 120614 | 0 | 0.05 | 0.004 | ||
acm5_human | 275 | ICL3 | R => H | missense | 2.487e-05 | 3 | 120608 | 0 | 0.23 | 0.004 | ||
acm5_human | 278 | ICL3 | T => P | missense | 8.294e-06 | 1 | 120570 | 0 | 0.18 | 0.745 | ||
acm5_human | 285 | ICL3 | S => F | missense | 4.145e-05 | 5 | 120634 | 0 | 0.05 | 0.438 | ||
acm5_human | 289 | ICL3 | G => V | missense | 8.287e-06 | 1 | 120676 | 0 | 0.22 | 0.112 | ||
acm5_human | 292 | ICL3 | A => T | missense | 0.0001243 | 15 | 120690 | 0 | 0.42 | 0.001 | ||
acm5_human | 293 | ICL3 | N => S | missense | 0.0001822 | 22 | 120754 | 0 | 1.0 | 0.0 | ||
acm5_human | 293 | ICL3 | N => I | missense | 8.281e-06 | 1 | 120754 | 0 | 0.09 | 0.001 | ||
acm5_human | 303 | ICL3 | C => R | missense | 8.272e-06 | 1 | 120890 | 0 | 0.29 | 0.748 | ||
acm5_human | 310 | ICL3 | E => A | missense | 2.479e-05 | 3 | 120998 | 0 | 0.07 | 0.559 | ||
acm5_human | 311 | ICL3 | D => N | missense | 8.264e-06 | 1 | 121000 | 0 | 0.19 | 0.87 | ||
acm5_human | 313 | ICL3 | D => A | missense | 8.266e-06 | 1 | 120984 | 0 | 0.09 | 0.032 | ||
acm5_human | 314 | ICL3 | K => Q | missense | 8.262e-06 | 1 | 121036 | 0 | 0.58 | 0.024 | ||
acm5_human | 316 | ICL3 | A => T | missense | 0.0009741 | 118 | 121142 | 0 | 0.55 | 0.002 | ||
acm5_human | 321 | ICL3 | L => F | missense | 3.3e-05 | 4 | 121208 | 0 | 0.83 | 0.0 | ||
acm5_human | 322 | ICL3 | Q => R | missense | 8.249e-06 | 1 | 121226 | 0 | 0.34 | 0.023 | ||
acm5_human | 323 | ICL3 | V => L | missense | 8.249e-06 | 1 | 121234 | 0 | 0.42 | 0.016 | ||
acm5_human | 325 | ICL3 | Y => H | missense | 8.247e-06 | 1 | 121250 | 0 | 0.51 | 0.815 | ||
acm5_human | 328 | ICL3 | Q => P | missense | 8.246e-06 | 1 | 121276 | 0 | 0.99 | 0.006 | ||
acm5_human | 329 | ICL3 | G => C | missense | 0.0007091 | 86 | 121278 | 0 | 0.01 | 0.421 | ||
acm5_human | 329 | ICL3 | G => D | missense | 1.649e-05 | 2 | 121274 | 0 | 0.17 | 0.002 | ||
acm5_human | 330 | ICL3 | K => R | missense | 1.649e-05 | 2 | 121288 | 0 | 0.51 | 0.243 | ||
acm5_human | 333 | ICL3 | P => L | missense | 2.473e-05 | 3 | 121312 | 0 | 0.07 | 0.898 | ||
acm5_human | 335 | ICL3 | E => K | missense | 8.243e-06 | 1 | 121318 | 0 | 0.38 | 0.036 | ||
acm5_human | 337 | ICL3 | F => C | missense | 1.648e-05 | 2 | 121336 | 0 | 0.17 | 0.8 | ||
acm5_human | 342 | ICL3 | T => N | missense | 8.239e-06 | 1 | 121376 | 0 | 0.5 | 0.004 | ||
acm5_human | 343 | ICL3 | E => V | missense | 2.472e-05 | 3 | 121378 | 0 | 0.21 | 0.002 | ||
acm5_human | 349 | ICL3 | A => G | missense | 2.471e-05 | 3 | 121394 | 0 | 0.47 | 0.0 | ||
acm5_human | 351 | ICL3 | T => I | missense | 4.119e-05 | 5 | 121394 | 0 | 0.18 | 0.049 | ||
acm5_human | 353 | ICL3 | K => R | missense | 0.0001483 | 18 | 121398 | 0 | 0.56 | 0.049 | ||
acm5_human | 355 | ICL3 | D => H | missense | 8.237e-06 | 1 | 121400 | 0 | 0.06 | 0.743 | ||
acm5_human | 355 | ICL3 | D => G | missense | 1.647e-05 | 2 | 121398 | 0 | 0.27 | 0.002 | ||
acm5_human | 359 | ICL3 | P => S | missense | 8.237e-06 | 1 | 121400 | 0 | 0.67 | 0.007 | ||
acm5_human | 359 | ICL3 | P => L | missense | 8.237e-06 | 1 | 121402 | 0 | 0.18 | 0.049 | ||
acm5_human | 365 | ICL3 | P => L | missense | 8.238e-06 | 1 | 121388 | 0 | 0.15 | 0.546 | ||
acm5_human | 367 | ICL3 | A => G | missense | 8.238e-06 | 1 | 121394 | 0 | 0.37 | 0.077 | ||
acm5_human | 368 | ICL3 | A => T | missense | 8.238e-06 | 1 | 121392 | 0 | 0.49 | 0.049 | ||
acm5_human | 377 | ICL3 | V => G | missense | 0.0001236 | 15 | 121378 | 0 | 0.22 | 0.481 | ||
acm5_human | 379 | ICL3 | Y => S | missense | 1.648e-05 | 2 | 121380 | 0 | 0.39 | 0.876 | ||
acm5_human | 382 | ICL3 | R => Q | missense | 0.0002719 | 33 | 121376 | 1 | 0.26 | 0.029 | ||
acm5_human | 385 | ICL3 | V => I | missense | 6.591e-05 | 8 | 121376 | 0 | 0.29 | 0.178 | ||
acm5_human | 387 | ICL3 | A => S | missense | 2.472e-05 | 3 | 121370 | 0 | 0.58 | 0.438 | ||
acm5_human | 387 | ICL3 | A => T | missense | 8.239e-06 | 1 | 121370 | 0 | 0.58 | 0.697 | ||
acm5_human | 389 | ICL3 | G => R | missense | 0.0002307 | 28 | 121368 | 0 | 0.1 | 0.931 | ||
acm5_human | 393 | ICL3 | T => S | missense | 8.239e-06 | 1 | 121374 | 0 | 0.89 | 0.02 | ||
acm5_human | 406 | ICL3 | P => A | missense | 8.237e-06 | 1 | 121400 | 0 | 0.77 | 0.02 | ||
acm5_human | 412 | ICL3 | E => K | missense | 0.008295 | 1007 | 121398 | 46 | 0.93 | 0.049 | ||
acm5_human | 413 | ICL3 | P => T | missense | 2.471e-05 | 3 | 121396 | 0 | 0.63 | 0.002 | ||
acm5_human | 415 | ICL3 | T => M | missense | 1.647e-05 | 2 | 121398 | 0 | 0.04 | 0.398 | ||
acm5_human | 423 | ICL3 | S => N | missense | 8.237e-06 | 1 | 121408 | 0 | 0.19 | 0.014 | ||
acm5_human | 427 | ICL3 | T => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.18 | 0.999 | PTM (Phosphorylation) | |
acm5_human | 428 | ICL3 | K => T | missense | 0.001779 | 216 | 121406 | 1 | 0.0 | 1.0 | ||
acm5_human | 429 | ICL3 | R => Q | missense | 8.237e-06 | 1 | 121408 | 0 | 0.02 | 1.0 | ||
acm5_human | 431 | 6.24x24 | TM6 | R => T | missense | 1.647e-05 | 2 | 121408 | 0 | 0.12 | 1.0 | |
acm5_human | 432 | 6.25x25 | TM6 | V => L | missense | 8.237e-06 | 1 | 121408 | 0 | 0.25 | 0.0 | GP (contact) |
acm5_human | 432 | 6.25x25 | TM6 | V => G | missense | 8.237e-06 | 1 | 121408 | 0 | 0.05 | 0.017 | GP (contact) |
acm5_human | 435 | 6.28x28 | TM6 | V => F | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.815 | GP (contact) |
acm5_human | 437 | 6.30x30 | TM6 | E => Q | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
acm5_human | 437 | 6.30x30 | TM6 | E => D | missense | 8.237e-06 | 1 | 121408 | 0 | 0.08 | 0.999 | SodiumPocket MicroSwitch |
acm5_human | 443 | 6.36x36 | TM6 | T => I | missense | 0.0002801 | 34 | 121406 | 0 | 0.03 | 1.0 | GP (contact) |
acm5_human | 447 | 6.40x40 | TM6 | I => V | missense | 4.119e-05 | 5 | 121400 | 0 | 0.0 | 0.998 | GP (contact) |
acm5_human | 450 | 6.43x43 | TM6 | A => V | missense | 2.471e-05 | 3 | 121396 | 0 | 0.02 | 1.0 | |
acm5_human | 464 | 6.57x57 | TM6 | V => I | missense | 1.647e-05 | 2 | 121398 | 0 | 0.62 | 0.039 | |
acm5_human | 464 | 6.57x57 | TM6 | V => A | missense | 8.237e-06 | 1 | 121400 | 0 | 0.1 | 0.741 | |
acm5_human | 467 | 6.60x60 | TM6 | F => L | missense | 8.237e-06 | 1 | 121402 | 0 | 0.01 | 0.372 | |
acm5_human | 470 | ECL3 | K => E | missense | 8.237e-06 | 1 | 121406 | 0 | 0.33 | 0.016 | ||
acm5_human | 470 | ECL3 | K => Q | missense | 8.237e-06 | 1 | 121406 | 0 | 0.19 | 0.048 | ||
acm5_human | 477 | 7.35x34 | TM7 | W => R | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 1.0 | |
acm5_human | 478 | 7.36x35 | TM7 | H => L | missense | 8.237e-06 | 1 | 121410 | 0 | 0.15 | 0.991 | |
acm5_human | 480 | 7.38x37 | TM7 | G => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 1.0 | |
acm5_human | 488 | 7.46x46 | TM7 | S => R | missense | 1.647e-05 | 2 | 121412 | 0 | 0.0 | 1.0 | |
acm5_human | 492 | 7.50x50 | TM7 | P => R | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
acm5_human | 503 | 8.51x51 | H8 | R => S | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.73 | GP (contact) |
acm5_human | 510 | 8.58x58 | H8 | L => F | missense | 2.475e-05 | 3 | 121204 | 0 | 0.0 | 0.985 | |
acm5_human | 513 | C-term | R => Q | missense | 3.31e-05 | 4 | 120830 | 0 | 1.0 | 0.001 | ||
acm5_human | 516 | C-term | K => R | missense | 8.296e-06 | 1 | 120534 | 0 | 0.12 | 0.034 | ||
acm5_human | 518 | C-term | K => N | missense | 1.672e-05 | 2 | 119646 | 0 | 0.0 | 0.193 | ||
acm5_human | 519 | C-term | V => M | missense | 1.672e-05 | 2 | 119628 | 0 | 0.14 | 0.018 | ||
acm5_human | 522 | C-term | K => M | missense | 8.517e-06 | 1 | 117408 | 0 | 0.0 | 0.976 | ||
acm5_human | 523 | C-term | L => M | missense | 0.0009331 | 109 | 116820 | 1 | 0.11 | 0.93 | ||
acm5_human | 528 | C-term | N => S | missense | 9.144e-06 | 1 | 109364 | 0 | 0.13 | 0.028 | ||
acm5_human | 528 | C-term | N => K | missense | 9.153e-06 | 1 | 109250 | 0 | 0.05 | 0.231 | ||
acm5_human | 530 | C-term | K => Q | missense | 9.275e-06 | 1 | 107818 | 0 | nan | 0.717 |
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