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 |
pe2r2_human | 53 | ICL1 | D => ThrfsTer19 | frameshift | 9.631e-06 | 1 | 103836 | 0 | None | None | ||
pe2r2_human | 93 | 2.65x65 | TM2 | Y => Ter | stop gained | 8.566e-06 | 1 | 116740 | 0 | None | None | LB (polar (hydrogen bond)) |
pe2r2_human | 153 | 4.42x42 | TM4 | G => AlafsTer117 | frameshift | 8.448e-06 | 1 | 118374 | 0 | None | None | |
pe2r2_human | 232 | 5.73x73 | TM5 | S => ArgfsTer40 | frameshift | 8.396e-06 | 1 | 119100 | 0 | None | None | |
pe2r2_human | 273 | 6.44x44 | TM6 | F => SerfsTer16 | frameshift | 8.367e-06 | 1 | 119512 | 0 | None | None | SodiumPocket MicroSwitch |
pe2r2_human | 292 | ECL3 | R => Ter | stop gained | 6.645e-05 | 8 | 120388 | 0 | None | None | ||
pe2r2_human | 349 | C-term | Q => Ter | stop gained | 1.65e-05 | 2 | 121226 | 0 | None | None | ||
pe2r2_human | 3 | N-term | N => S | missense | 1.897e-05 | 2 | 105416 | 0 | nan | 0.008 | ||
pe2r2_human | 11 | N-term | E => G | missense | 9.484e-06 | 1 | 105440 | 0 | 0.12 | 0.002 | ||
pe2r2_human | 12 | N-term | D => N | missense | 1.897e-05 | 2 | 105420 | 0 | 0.65 | 0.002 | ||
pe2r2_human | 17 | N-term | Q => H | missense | 9.493e-06 | 1 | 105340 | 0 | 0.26 | 0.003 | ||
pe2r2_human | 18 | N-term | W => R | missense | 9.496e-06 | 1 | 105312 | 0 | 0.39 | 0.096 | ||
pe2r2_human | 22 | N-term | G => S | missense | 9.531e-06 | 1 | 104926 | 0 | 0.15 | 0.064 | ||
pe2r2_human | 23 | N-term | E => D | missense | 9.535e-06 | 1 | 104882 | 0 | 0.2 | 0.006 | ||
pe2r2_human | 26 | 1.37x37 | TM1 | A => G | missense | 9.529e-06 | 1 | 104942 | 0 | 0.22 | 0.608 | |
pe2r2_human | 33 | 1.44x44 | TM1 | S => L | missense | 1.904e-05 | 2 | 105062 | 0 | 0.2 | 0.202 | PTM (Phosphorylation) |
pe2r2_human | 40 | 1.51x51 | TM1 | L => F | missense | 1.899e-05 | 2 | 105304 | 0 | 0.03 | 0.983 | |
pe2r2_human | 42 | 1.53x53 | TM1 | A => V | missense | 1.899e-05 | 2 | 105326 | 0 | 0.0 | 1.0 | |
pe2r2_human | 43 | 1.54x54 | TM1 | L => V | missense | 9.535e-06 | 1 | 104878 | 0 | 0.0 | 0.999 | |
pe2r2_human | 44 | 1.55x55 | TM1 | A => E | missense | 1.905e-05 | 2 | 104998 | 0 | 0.02 | 0.763 | |
pe2r2_human | 47 | 1.58x58 | TM1 | A => T | missense | 9.549e-06 | 1 | 104718 | 0 | 0.6 | 0.075 | |
pe2r2_human | 48 | 1.59x59 | TM1 | R => H | missense | 9.572e-06 | 1 | 104472 | 0 | 0.54 | 0.005 | |
pe2r2_human | 51 | ICL1 | R => L | missense | 3.852e-05 | 4 | 103838 | 0 | 0.03 | 0.009 | ||
pe2r2_human | 51 | ICL1 | R => Q | missense | 2.889e-05 | 3 | 103838 | 0 | 0.06 | 0.066 | ||
pe2r2_human | 53 | ICL1 | D => N | missense | 9.584e-06 | 1 | 104340 | 0 | 0.15 | 0.22 | ||
pe2r2_human | 59 | ICL1 | G => R | missense | 9.391e-06 | 1 | 106482 | 0 | 0.57 | 0.029 | ||
pe2r2_human | 60 | ICL1 | R => H | missense | 3.733e-05 | 4 | 107158 | 0 | 0.15 | 0.027 | ||
pe2r2_human | 61 | ICL1 | R => S | missense | 9.255e-06 | 1 | 108044 | 0 | 0.05 | 0.043 | ||
pe2r2_human | 62 | ICL1 | S => R | missense | 9.217e-06 | 1 | 108490 | 0 | 0.65 | 0.001 | PTM (Phosphorylation) | |
pe2r2_human | 71 | 2.43x43 | TM2 | V => L | missense | 8.853e-06 | 1 | 112962 | 0 | 0.01 | 0.649 | |
pe2r2_human | 71 | 2.43x43 | TM2 | V => M | missense | 8.853e-06 | 1 | 112962 | 0 | 0.0 | 0.995 | |
pe2r2_human | 73 | 2.45x45 | TM2 | E => K | missense | 2.633e-05 | 3 | 113934 | 0 | 0.84 | 0.617 | |
pe2r2_human | 73 | 2.45x45 | TM2 | E => Q | missense | 8.777e-06 | 1 | 113934 | 0 | 0.53 | 0.925 | |
pe2r2_human | 78 | 2.50x50 | TM2 | D => N | missense | 8.658e-06 | 1 | 115498 | 0 | 0.0 | 1.0 | LB (Van der Waals) |
pe2r2_human | 81 | 2.53x53 | TM2 | G => R | missense | 8.616e-06 | 1 | 116062 | 0 | 0.0 | 1.0 | LB (Van der Waals) |
pe2r2_human | 83 | 2.55x55 | TM2 | C => G | missense | 0.005392 | 628 | 116464 | 6 | 0.0 | 0.999 | |
pe2r2_human | 88 | 2.60x60 | TM2 | V => L | missense | 8.567e-06 | 1 | 116726 | 0 | 0.63 | 0.268 | |
pe2r2_human | 89 | 2.61x61 | TM2 | V => I | missense | 8.568e-06 | 1 | 116718 | 0 | 0.0 | 1.0 | LB (hydrophobic, Van der Waals) |
pe2r2_human | 104 | ECL1 | P => L | missense | 1.712e-05 | 2 | 116824 | 0 | 0.15 | 0.875 | ||
pe2r2_human | 105 | ECL1 | E => K | missense | 8.558e-06 | 1 | 116846 | 0 | 0.69 | 0.003 | ||
pe2r2_human | 109 | 3.25x25 | TM3 | C => R | missense | 8.556e-06 | 1 | 116874 | 0 | 0.0 | 1.0 | |
pe2r2_human | 116 | 3.32x32 | TM3 | M => V | missense | 8.55e-06 | 1 | 116958 | 0 | 0.0 | 0.999 | LB (hydrophobic, Van der Waals) |
pe2r2_human | 116 | 3.32x32 | TM3 | M => T | missense | 8.55e-06 | 1 | 116958 | 0 | 0.0 | 1.0 | LB (hydrophobic, Van der Waals) |
pe2r2_human | 123 | 3.39x39 | TM3 | T => A | missense | 8.543e-06 | 1 | 117052 | 0 | 0.06 | 0.986 | LB (Van der Waals) |
pe2r2_human | 126 | 3.42x42 | TM3 | M => V | missense | 8.538e-06 | 1 | 117130 | 0 | 0.33 | 0.027 | |
pe2r2_human | 128 | 3.44x44 | TM3 | F => L | missense | 8.538e-06 | 1 | 117118 | 0 | 0.24 | 0.116 | |
pe2r2_human | 129 | 3.45x45 | TM3 | A => S | missense | 8.538e-06 | 1 | 117126 | 0 | 0.09 | 0.773 | |
pe2r2_human | 130 | 3.46x46 | TM3 | M => I | missense | 8.531e-06 | 1 | 117216 | 0 | 0.0 | 0.992 | |
pe2r2_human | 136 | 3.52x52 | TM3 | L => V | missense | 0.0001192 | 14 | 117430 | 0 | 0.02 | 0.11 | |
pe2r2_human | 143 | 34.52x52 | ICL2 | F => S | missense | 8.481e-06 | 1 | 117908 | 0 | 0.0 | 0.846 | GP (contact) |
pe2r2_human | 146 | 34.55x55 | ICL2 | R => H | missense | 8.468e-06 | 1 | 118088 | 0 | 0.0 | 0.957 | GP (contact) |
pe2r2_human | 147 | 34.56x56 | ICL2 | R => C | missense | 8.466e-06 | 1 | 118126 | 0 | 0.08 | 0.013 | GP (contact) |
pe2r2_human | 150 | 4.39x39 | TM4 | R => C | missense | 8.453e-06 | 1 | 118302 | 0 | 0.13 | 0.015 | |
pe2r2_human | 161 | 4.50x50 | TM4 | Y => F | missense | 5.858e-05 | 7 | 119496 | 0 | 0.18 | 0.717 | |
pe2r2_human | 164 | 4.53x53 | TM4 | S => P | missense | 8.36e-06 | 1 | 119624 | 0 | 0.06 | 0.972 | |
pe2r2_human | 165 | 4.54x54 | TM4 | L => M | missense | 2.507e-05 | 3 | 119676 | 0 | 0.1 | 0.944 | |
pe2r2_human | 172 | 4.61x61 | TM4 | L => Q | missense | 2.503e-05 | 3 | 119844 | 0 | 0.05 | 0.996 | |
pe2r2_human | 178 | ECL2 | Y => C | missense | 8.341e-06 | 1 | 119894 | 0 | 0.0 | 0.999 | ||
pe2r2_human | 180 | ECL2 | Q => R | missense | 8.335e-06 | 1 | 119970 | 0 | 0.0 | 0.984 | ||
pe2r2_human | 180 | ECL2 | Q => H | missense | 5.837e-05 | 7 | 119918 | 0 | 0.0 | 0.994 | ||
pe2r2_human | 187 | 45.50x50 | ECL2 | C => W | missense | 8.291e-06 | 1 | 120616 | 0 | 0.0 | 1.0 | |
pe2r2_human | 190 | ECL2 | R => W | missense | 8.285e-06 | 1 | 120694 | 0 | 0.03 | 0.013 | ||
pe2r2_human | 190 | ECL2 | R => Q | missense | 8.284e-06 | 1 | 120710 | 0 | 0.78 | 0.004 | ||
pe2r2_human | 192 | ECL2 | G => A | missense | 8.28e-06 | 1 | 120778 | 0 | 0.22 | 0.063 | ||
pe2r2_human | 195 | 5.36x36 | TM5 | A => S | missense | 2.483e-05 | 3 | 120838 | 0 | 0.21 | 0.055 | |
pe2r2_human | 197 | 5.38x38 | TM5 | L => P | missense | 8.273e-06 | 1 | 120870 | 0 | 0.32 | 0.962 | |
pe2r2_human | 204 | 5.45x45 | TM5 | L => P | missense | 1.654e-05 | 2 | 120894 | 0 | 0.0 | 0.998 | |
pe2r2_human | 210 | 5.51x51 | TM5 | S => P | missense | 3.311e-05 | 4 | 120792 | 0 | 0.01 | 0.529 | |
pe2r2_human | 216 | 5.57x57 | TM5 | F => C | missense | 4.145e-05 | 5 | 120620 | 0 | 0.05 | 0.014 | |
pe2r2_human | 221 | 5.62x62 | TM5 | N => Y | missense | 8.306e-06 | 1 | 120400 | 0 | 0.0 | 0.493 | |
pe2r2_human | 221 | 5.62x62 | TM5 | N => S | missense | 8.311e-06 | 1 | 120326 | 0 | 0.51 | 0.038 | |
pe2r2_human | 223 | 5.64x64 | TM5 | I => L | missense | 3.327e-05 | 4 | 120238 | 0 | 0.31 | 0.002 | GP (contact) |
pe2r2_human | 230 | 5.71x71 | TM5 | R => Q | missense | 8.396e-06 | 1 | 119100 | 0 | 0.62 | 0.023 | GP (contact) |
pe2r2_human | 233 | 5.74x74 | TM5 | R => H | missense | 8.384e-06 | 1 | 119274 | 0 | 0.0 | 0.982 | GP (contact) |
pe2r2_human | 235 | 5.76x76 | TM5 | G => R | missense | 8.389e-06 | 1 | 119198 | 0 | 0.05 | 0.777 | |
pe2r2_human | 242 | ICL3 | R => W | missense | 1.686e-05 | 2 | 118626 | 0 | 0.0 | 0.806 | ||
pe2r2_human | 242 | ICL3 | R => G | missense | 8.43e-06 | 1 | 118626 | 0 | 0.05 | 0.011 | ||
pe2r2_human | 242 | ICL3 | R => Q | missense | 7.589e-05 | 9 | 118596 | 0 | 0.09 | 0.019 | ||
pe2r2_human | 242 | ICL3 | R => P | missense | 8.432e-06 | 1 | 118596 | 0 | 0.07 | 0.019 | ||
pe2r2_human | 247 | ICL3 | A => V | missense | 8.425e-06 | 1 | 118696 | 0 | 0.39 | 0.021 | ||
pe2r2_human | 247 | ICL3 | A => D | missense | 8.425e-06 | 1 | 118696 | 0 | 0.6 | 0.094 | ||
pe2r2_human | 248 | ICL3 | R => H | missense | 8.42e-06 | 1 | 118758 | 0 | 0.06 | 0.015 | ||
pe2r2_human | 249 | ICL3 | R => K | missense | 1.681e-05 | 2 | 118980 | 0 | 0.29 | 0.012 | ||
pe2r2_human | 249 | ICL3 | R => S | missense | 8.401e-06 | 1 | 119030 | 0 | 0.1 | 0.063 | ||
pe2r2_human | 252 | ICL3 | E => Q | missense | 0.0001006 | 12 | 119230 | 0 | 0.28 | 0.533 | ||
pe2r2_human | 252 | ICL3 | E => K | missense | 2.516e-05 | 3 | 119230 | 0 | 0.14 | 0.038 | ||
pe2r2_human | 262 | 6.33x33 | TM6 | H => Q | missense | 8.354e-06 | 1 | 119708 | 0 | 0.0 | 0.972 | GP (contact) |
pe2r2_human | 263 | 6.34x34 | TM6 | L => F | missense | 8.353e-06 | 1 | 119716 | 0 | 0.0 | 0.998 | SodiumPocket MicroSwitch |
pe2r2_human | 264 | 6.35x35 | TM6 | I => T | missense | 5.012e-05 | 6 | 119720 | 0 | 0.0 | 0.629 | |
pe2r2_human | 265 | 6.36x36 | TM6 | L => P | missense | 8.352e-06 | 1 | 119736 | 0 | 0.0 | 0.942 | GP (contact) |
pe2r2_human | 268 | 6.39x39 | TM6 | I => V | missense | 8.358e-06 | 1 | 119648 | 0 | 0.2 | 0.026 | |
pe2r2_human | 271 | 6.42x42 | TM6 | I => V | missense | 8.368e-06 | 1 | 119502 | 0 | 0.26 | 0.37 | |
pe2r2_human | 271 | 6.42x42 | TM6 | I => T | missense | 8.371e-06 | 1 | 119466 | 0 | 0.02 | 0.961 | |
pe2r2_human | 274 | 6.45x45 | TM6 | A => D | missense | 8.389e-06 | 1 | 119206 | 0 | 0.0 | 0.925 | |
pe2r2_human | 277 | 6.48x48 | TM6 | S => C | missense | 8.399e-06 | 1 | 119060 | 0 | 0.0 | 0.995 | SodiumPocket MicroSwitch |
pe2r2_human | 281 | 6.52x52 | TM6 | T => M | missense | 4.217e-05 | 5 | 118568 | 0 | 0.0 | 0.896 | |
pe2r2_human | 285 | 6.56x56 | TM6 | Y => C | missense | 0.001669 | 199 | 119248 | 3 | 0.0 | 0.566 | |
pe2r2_human | 287 | ECL3 | N => S | missense | 2.505e-05 | 3 | 119768 | 0 | 0.06 | 0.191 | ||
pe2r2_human | 292 | ECL3 | R => Q | missense | 1.661e-05 | 2 | 120438 | 0 | 0.45 | 0.009 | ||
pe2r2_human | 293 | ECL3 | K => E | missense | 2.489e-05 | 3 | 120522 | 0 | 0.86 | 0.004 | ||
pe2r2_human | 299 | 7.37x36 | TM7 | Q => H | missense | 1.655e-05 | 2 | 120818 | 0 | 0.12 | 0.617 | |
pe2r2_human | 300 | 7.38x37 | TM7 | A => V | missense | 8.275e-06 | 1 | 120840 | 0 | 0.04 | 0.458 | |
pe2r2_human | 306 | 7.44x43 | TM7 | I => V | missense | 0.0001157 | 14 | 121034 | 0 | 0.5 | 0.008 | SodiumPocket MicroSwitch |
pe2r2_human | 312 | 7.50x50 | TM7 | P => L | missense | 8.249e-06 | 1 | 121228 | 0 | 0.0 | 0.997 | SodiumPocket MicroSwitch |
pe2r2_human | 313 | 7.51x51 | TM7 | W => L | missense | 8.248e-06 | 1 | 121242 | 0 | 0.02 | 0.651 | |
pe2r2_human | 327 | 8.55x55 | H8 | R => C | missense | 8.24e-06 | 1 | 121364 | 0 | 0.01 | 0.891 | |
pe2r2_human | 327 | 8.55x55 | H8 | R => H | missense | 8.24e-06 | 1 | 121366 | 0 | 0.04 | 0.891 | |
pe2r2_human | 331 | 8.59x59 | H8 | C => S | missense | 1.648e-05 | 2 | 121372 | 0 | 0.05 | 0.965 | |
pe2r2_human | 333 | C-term | R => W | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 0.724 | ||
pe2r2_human | 338 | C-term | T => S | missense | 1.648e-05 | 2 | 121352 | 0 | 0.52 | 0.003 | ||
pe2r2_human | 342 | C-term | T => I | missense | 8.242e-06 | 1 | 121326 | 0 | 0.28 | 0.001 | ||
pe2r2_human | 345 | C-term | S => F | missense | 8.245e-06 | 1 | 121292 | 0 | 0.05 | 0.59 | ||
pe2r2_human | 346 | C-term | C => Y | missense | 0.0001319 | 16 | 121280 | 0 | 0.23 | 0.248 | ||
pe2r2_human | 357 | C-term | D => E | missense | 3.318e-05 | 4 | 120542 | 0 | 0.19 | 0.004 |
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