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 |
acm2_human | 55 | 12.51x51 | ICL1 | Q => Ter | stop gained | 8.252e-06 | 1 | 121188 | 0 | None | None | |
acm2_human | 288 | ICL3 | S => Ter | stop gained | 8.281e-06 | 1 | 120760 | 0 | None | None | PTM (Phosphorylation) | |
acm2_human | 375 | ICL3 | K => Ter | stop gained | 8.256e-06 | 1 | 121130 | 0 | None | None | ||
acm2_human | 403 | 6.51x51 | TM6 | Y => Ter | stop gained | 8.26e-06 | 1 | 121060 | 0 | None | None | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
acm2_human | 3 | N-term | N => S | missense | 8.294e-06 | 1 | 120566 | 0 | 0.43 | 0.0 | PTM (N-linked Glycosylation) | |
acm2_human | 6 | N-term | N => K | missense | 1.657e-05 | 2 | 120668 | 0 | 0.18 | 0.0 | PTM (N-linked Glycosylation) | |
acm2_human | 9 | N-term | N => D | missense | 8.285e-06 | 1 | 120696 | 0 | 0.39 | 0.0 | ||
acm2_human | 11 | N-term | S => C | missense | 8.283e-06 | 1 | 120736 | 0 | 0.02 | 0.0 | ||
acm2_human | 13 | N-term | A => D | missense | 1.656e-05 | 2 | 120774 | 0 | 0.62 | 0.0 | ||
acm2_human | 15 | N-term | T => S | missense | 8.279e-06 | 1 | 120794 | 0 | 0.73 | 0.0 | ||
acm2_human | 16 | N-term | S => N | missense | 8.278e-06 | 1 | 120808 | 0 | 0.09 | 0.0 | ||
acm2_human | 17 | N-term | P => L | missense | 8.277e-06 | 1 | 120824 | 0 | 0.02 | 1.0 | ||
acm2_human | 19 | 1.28x28 | TM1 | K => E | missense | 8.275e-06 | 1 | 120846 | 0 | 0.47 | 0.009 | |
acm2_human | 20 | 1.29x29 | TM1 | T => I | missense | 8.274e-06 | 1 | 120860 | 0 | 0.44 | 0.548 | |
acm2_human | 25 | 1.34x34 | TM1 | F => L | missense | 8.271e-06 | 1 | 120910 | 0 | 1.0 | 0.016 | |
acm2_human | 31 | 1.40x40 | TM1 | G => A | missense | 8.267e-06 | 1 | 120960 | 0 | 0.34 | 0.082 | |
acm2_human | 36 | 1.45x45 | TM1 | V => L | missense | 8.265e-06 | 1 | 120998 | 0 | 0.04 | 0.085 | |
acm2_human | 38 | 1.47x47 | TM1 | I => T | missense | 8.263e-06 | 1 | 121020 | 0 | 0.01 | 0.005 | |
acm2_human | 52 | 12.48x48 | ICL1 | R => H | missense | 1.651e-05 | 2 | 121158 | 0 | 0.01 | 0.998 | |
acm2_human | 57 | 2.38x38 | TM2 | V => I | missense | 7.427e-05 | 9 | 121176 | 0 | 0.03 | 0.927 | |
acm2_human | 78 | 2.59x58 | TM2 | N => K | missense | 8.244e-06 | 1 | 121300 | 0 | 0.0 | 1.0 | |
acm2_human | 79 | 2.60x59 | TM2 | L => F | missense | 8.245e-06 | 1 | 121290 | 0 | 0.01 | 0.942 | |
acm2_human | 80 | 2.61x60 | TM2 | Y => F | missense | 8.244e-06 | 1 | 121300 | 0 | 0.1 | 0.999 | LB (polar (hydrogen bond), Van der Waals) |
acm2_human | 86 | 2.67x66 | TM2 | I => T | missense | 8.243e-06 | 1 | 121314 | 0 | 0.06 | 0.159 | |
acm2_human | 133 | 34.55x55 | ICL2 | V => L | missense | 8.257e-06 | 1 | 121112 | 0 | 0.01 | 0.643 | GP (contact) |
acm2_human | 142 | 4.44x44 | TM4 | M => I | missense | 8.273e-06 | 1 | 120870 | 0 | 0.92 | 0.01 | |
acm2_human | 154 | 4.56x56 | TM4 | L => V | missense | 8.286e-06 | 1 | 120684 | 0 | 0.0 | 0.999 | |
acm2_human | 158 | 4.60x60 | TM4 | A => D | missense | 8.282e-06 | 1 | 120742 | 0 | 0.0 | 1.0 | |
acm2_human | 172 | ECL2 | E => D | missense | 1.654e-05 | 2 | 120902 | 0 | 0.04 | 0.09 | ||
acm2_human | 174 | ECL2 | G => E | missense | 8.269e-06 | 1 | 120932 | 0 | 0.32 | 0.236 | ||
acm2_human | 197 | 5.49x49 | TM5 | L => F | missense | 8.275e-06 | 1 | 120846 | 0 | 0.01 | 0.998 | |
acm2_human | 199 | 5.51x51 | TM5 | V => M | missense | 8.276e-06 | 1 | 120830 | 0 | 0.0 | 0.996 | |
acm2_human | 210 | 5.62x62 | TM5 | S => T | missense | 8.303e-06 | 1 | 120432 | 0 | 0.02 | 0.934 | |
acm2_human | 211 | 5.63x63 | TM5 | R => Q | missense | 1.662e-05 | 2 | 120328 | 0 | 0.23 | 0.015 | |
acm2_human | 211 | 5.63x63 | TM5 | R => L | missense | 8.311e-06 | 1 | 120328 | 0 | 0.29 | 0.007 | |
acm2_human | 225 | ICL3 | V => D | missense | 8.35e-05 | 10 | 119764 | 0 | 0.51 | 0.016 | ||
acm2_human | 227 | ICL3 | N => S | missense | 8.352e-06 | 1 | 119736 | 0 | 0.69 | 0.004 | ||
acm2_human | 227 | ICL3 | N => K | missense | 8.353e-06 | 1 | 119714 | 0 | 0.84 | 0.009 | ||
acm2_human | 229 | ICL3 | D => G | missense | 1.671e-05 | 2 | 119694 | 0 | 0.45 | 0.004 | ||
acm2_human | 230 | ICL3 | P => S | missense | 8.355e-06 | 1 | 119690 | 0 | 0.88 | 0.014 | ||
acm2_human | 231 | ICL3 | V => I | missense | 0.002983 | 357 | 119660 | 1 | 0.21 | 0.009 | ||
acm2_human | 235 | ICL3 | L => M | missense | 0.0002924 | 35 | 119718 | 0 | 0.28 | 0.726 | ||
acm2_human | 238 | ICL3 | G => A | missense | 6.677e-05 | 8 | 119810 | 0 | 0.35 | 0.023 | ||
acm2_human | 240 | ICL3 | I => R | missense | 1.669e-05 | 2 | 119844 | 0 | 0.4 | 0.024 | ||
acm2_human | 241 | ICL3 | V => M | missense | 8.346e-06 | 1 | 119822 | 0 | 0.14 | 0.026 | ||
acm2_human | 242 | ICL3 | K => R | missense | 1.669e-05 | 2 | 119862 | 0 | 0.3 | 0.05 | ||
acm2_human | 243 | ICL3 | P => S | missense | 8.344e-06 | 1 | 119848 | 0 | 0.42 | 0.004 | ||
acm2_human | 246 | ICL3 | N => D | missense | 1.668e-05 | 2 | 119932 | 0 | 0.49 | 0.188 | ||
acm2_human | 246 | ICL3 | N => K | missense | 3.335e-05 | 4 | 119926 | 0 | 0.66 | 0.135 | ||
acm2_human | 253 | ICL3 | D => N | missense | 0.000125 | 15 | 119998 | 0 | 0.45 | 0.146 | ||
acm2_human | 254 | ICL3 | G => V | missense | 1.666e-05 | 2 | 120072 | 0 | 0.24 | 0.014 | ||
acm2_human | 255 | ICL3 | L => V | missense | 8.328e-06 | 1 | 120076 | 0 | 0.34 | 0.014 | ||
acm2_human | 258 | ICL3 | N => S | missense | 0.001449 | 174 | 120100 | 0 | 0.74 | 0.004 | ||
acm2_human | 258 | ICL3 | N => K | missense | 8.328e-06 | 1 | 120084 | 0 | 0.62 | 0.009 | ||
acm2_human | 262 | ICL3 | N => S | missense | 8.324e-06 | 1 | 120140 | 0 | 0.95 | 0.377 | ||
acm2_human | 274 | ICL3 | C => R | missense | 8.309e-06 | 1 | 120356 | 0 | 0.17 | 0.02 | ||
acm2_human | 274 | ICL3 | C => S | missense | 8.309e-06 | 1 | 120354 | 0 | 0.48 | 0.216 | ||
acm2_human | 275 | ICL3 | V => A | missense | 8.308e-06 | 1 | 120372 | 0 | 0.59 | 0.005 | ||
acm2_human | 277 | ICL3 | G => E | missense | 1.66e-05 | 2 | 120464 | 0 | 0.44 | 0.691 | ||
acm2_human | 287 | ICL3 | T => S | missense | 0.000174 | 21 | 120718 | 0 | 1.0 | 0.015 | PTM (Phosphorylation) | |
acm2_human | 292 | ICL3 | V => A | missense | 8.277e-06 | 1 | 120814 | 0 | 0.74 | 0.002 | ||
acm2_human | 296 | ICL3 | M => T | missense | 8.275e-06 | 1 | 120840 | 0 | 0.59 | 0.002 | ||
acm2_human | 303 | ICL3 | Q => P | missense | 8.271e-06 | 1 | 120910 | 0 | 0.27 | 0.002 | ||
acm2_human | 304 | ICL3 | D => V | missense | 8.27e-06 | 1 | 120914 | 0 | 0.17 | 0.004 | ||
acm2_human | 311 | ICL3 | S => Y | missense | 8.263e-06 | 1 | 121024 | 0 | 0.04 | 0.903 | PTM (Phosphorylation) | |
acm2_human | 312 | ICL3 | L => Q | missense | 8.262e-06 | 1 | 121034 | 0 | 0.62 | 0.004 | ||
acm2_human | 312 | ICL3 | L => P | missense | 8.262e-06 | 1 | 121034 | 0 | 0.3 | 0.18 | ||
acm2_human | 321 | ICL3 | K => T | missense | 8.258e-06 | 1 | 121102 | 0 | 0.2 | 0.201 | ||
acm2_human | 325 | ICL3 | I => F | missense | 2.477e-05 | 3 | 121138 | 0 | 0.54 | 0.03 | ||
acm2_human | 326 | ICL3 | R => K | missense | 1.651e-05 | 2 | 121126 | 0 | 1.0 | 0.004 | ||
acm2_human | 329 | ICL3 | T => S | missense | 8.256e-06 | 1 | 121130 | 0 | 0.7 | 0.402 | ||
acm2_human | 331 | ICL3 | T => S | missense | 0.001651 | 200 | 121132 | 3 | 0.85 | 0.004 | ||
acm2_human | 337 | ICL3 | C => Y | missense | 8.257e-06 | 1 | 121114 | 0 | 0.65 | 0.004 | ||
acm2_human | 343 | ICL3 | T => I | missense | 8.26e-06 | 1 | 121072 | 0 | 0.2 | 0.148 | ||
acm2_human | 344 | ICL3 | V => M | missense | 2.478e-05 | 3 | 121084 | 0 | 0.23 | 0.327 | ||
acm2_human | 344 | ICL3 | V => G | missense | 5.78e-05 | 7 | 121098 | 0 | 0.37 | 0.493 | ||
acm2_human | 344 | ICL3 | V => A | missense | 8.258e-06 | 1 | 121098 | 0 | 0.58 | 0.02 | ||
acm2_human | 348 | ICL3 | G => R | missense | 8.259e-06 | 1 | 121086 | 0 | 0.51 | 0.756 | ||
acm2_human | 352 | ICL3 | Q => K | missense | 8.258e-06 | 1 | 121088 | 0 | 1.0 | 0.027 | ||
acm2_human | 358 | ICL3 | Q => H | missense | 8.257e-06 | 1 | 121104 | 0 | 0.18 | 0.91 | ||
acm2_human | 363 | ICL3 | R => C | missense | 8.258e-06 | 1 | 121088 | 0 | 0.15 | 0.12 | ||
acm2_human | 363 | ICL3 | R => H | missense | 3.304e-05 | 4 | 121070 | 0 | 0.06 | 0.911 | ||
acm2_human | 368 | ICL3 | M => T | missense | 8.257e-06 | 1 | 121116 | 0 | 0.45 | 0.216 | ||
acm2_human | 372 | ICL3 | P => A | missense | 0.001263 | 153 | 121108 | 0 | 0.75 | 0.036 | ||
acm2_human | 372 | ICL3 | P => H | missense | 8.257e-06 | 1 | 121106 | 0 | 0.13 | 0.873 | ||
acm2_human | 373 | ICL3 | A => T | missense | 8.257e-06 | 1 | 121110 | 0 | 0.6 | 0.266 | ||
acm2_human | 378 | 6.26x26 | TM6 | P => L | missense | 8.255e-06 | 1 | 121132 | 0 | 0.32 | 0.063 | GP (contact) |
acm2_human | 379 | 6.27x27 | TM6 | P => A | missense | 8.256e-06 | 1 | 121128 | 0 | 0.83 | 0.004 | |
acm2_human | 390 | 6.38x38 | TM6 | L => S | missense | 8.257e-06 | 1 | 121106 | 0 | 0.11 | 0.836 | |
acm2_human | 397 | 6.45x45 | TM6 | I => V | missense | 3.303e-05 | 4 | 121096 | 0 | 0.19 | 0.107 | |
acm2_human | 410 | 6.58x58 | TM6 | N => S | missense | 8.264e-06 | 1 | 121012 | 0 | 0.97 | 0.145 | LB (polar (hydrogen bond), Van der Waals) |
acm2_human | 411 | 6.59x59 | TM6 | T => N | missense | 8.264e-06 | 1 | 121008 | 0 | 0.0 | 0.756 | |
acm2_human | 420 | 7.33x32 | TM7 | T => S | missense | 8.259e-06 | 1 | 121086 | 0 | 0.48 | 0.223 | |
acm2_human | 456 | 8.59x59 | H8 | M => T | missense | 8.267e-06 | 1 | 120966 | 0 | 0.03 | 0.007 | |
acm2_human | 456 | 8.59x59 | H8 | M => R | missense | 8.267e-06 | 1 | 120966 | 0 | 0.04 | 0.003 | |
acm2_human | 462 | C-term | I => T | missense | 8.282e-06 | 1 | 120746 | 0 | 0.1 | 0.703 | ||
acm2_human | 463 | C-term | G => S | missense | 8.291e-06 | 1 | 120610 | 0 | 0.18 | 0.77 | ||
acm2_human | 464 | C-term | A => T | missense | 1.659e-05 | 2 | 120584 | 0 | 1.0 | 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