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 |
pe2r1_human | 365 | 8.57x57 | H8 | L => SerfsTer17 | frameshift | 0.0005729 | 52 | 90770 | 0 | None | None | |
pe2r1_human | 356 | 8.48x48 | H8 | Q => Ter | stop gained | 1.112e-05 | 1 | 89914 | 0 | None | None | GP (contact) |
pe2r1_human | 395 | C-term | R => Q | missense | 0.000139 | 12 | 86336 | 0 | 0.18 | 0.0 | ||
pe2r1_human | 390 | C-term | S => W | missense | 3.412e-05 | 3 | 87936 | 0 | 0.0 | 0.0 | ||
pe2r1_human | 390 | C-term | S => L | missense | 1.137e-05 | 1 | 87936 | 0 | 0.0 | 0.0 | ||
pe2r1_human | 390 | C-term | S => T | missense | 4.535e-05 | 4 | 88206 | 0 | 0.0 | 0.0 | ||
pe2r1_human | 388 | C-term | A => V | missense | 3.414e-05 | 3 | 87882 | 0 | 0.54 | 0.0 | ||
pe2r1_human | 386 | C-term | W => C | missense | 2.274e-05 | 2 | 87948 | 0 | 0.0 | 0.0 | ||
pe2r1_human | 385 | C-term | A => V | missense | 1.139e-05 | 1 | 87814 | 0 | 1.0 | 0.0 | ||
pe2r1_human | 383 | C-term | P => Q | missense | 1.145e-05 | 1 | 87342 | 0 | 0.31 | 0.0 | ||
pe2r1_human | 381 | C-term | L => P | missense | 1.146e-05 | 1 | 87276 | 0 | 0.1 | 0.0 | ||
pe2r1_human | 376 | C-term | P => H | missense | 1.149e-05 | 1 | 87052 | 0 | 0.21 | 0.0 | ||
pe2r1_human | 376 | C-term | P => L | missense | 1.149e-05 | 1 | 87052 | 0 | 0.18 | 0.0 | ||
pe2r1_human | 371 | 8.63x63 | H8 | G => A | missense | 0.0001137 | 10 | 87962 | 0 | 0.09 | 0.0 | |
pe2r1_human | 368 | 8.60x60 | H8 | P => L | missense | 2.247e-05 | 2 | 89002 | 0 | 0.33 | 0.0 | |
pe2r1_human | 364 | 8.56x56 | H8 | R => C | missense | 3.291e-05 | 3 | 91164 | 0 | 0.08 | 0.0 | |
pe2r1_human | 362 | 8.54x54 | H8 | L => M | missense | 1.089e-05 | 1 | 91816 | 0 | 0.01 | 0.0 | |
pe2r1_human | 360 | 8.52x52 | H8 | R => H | missense | 1.095e-05 | 1 | 91356 | 0 | 0.06 | 0.0 | |
pe2r1_human | 359 | 8.51x51 | H8 | L => Q | missense | 1.093e-05 | 1 | 91500 | 0 | 0.0 | 0.0 | GP (contact) |
pe2r1_human | 357 | 8.49x49 | H8 | A => D | missense | 2.21e-05 | 2 | 90502 | 0 | 0.0 | 0.0 | GP (contact) |
pe2r1_human | 355 | 8.47x47 | H8 | R => H | missense | 2.234e-05 | 2 | 89510 | 0 | 0.0 | 0.0 | GP (contact) |
pe2r1_human | 352 | 7.54x54 | TM7 | I => M | missense | 1.143e-05 | 1 | 87476 | 0 | 0.0 | 0.703 | |
pe2r1_human | 352 | 7.54x54 | TM7 | I => T | missense | 1.151e-05 | 1 | 86872 | 0 | 0.0 | 0.507 | |
pe2r1_human | 347 | 7.49x49 | TM7 | D => A | missense | 3.72e-05 | 3 | 80648 | 0 | 0.0 | 0.96 | SodiumPocket MicroSwitch |
pe2r1_human | 346 | 7.48x48 | TM7 | L => P | missense | 1.266e-05 | 1 | 78970 | 0 | 0.0 | 0.973 | |
pe2r1_human | 338 | 7.40x39 | TM7 | R => H | missense | 1.613e-05 | 1 | 62010 | 0 | 0.02 | 0.954 | |
pe2r1_human | 338 | 7.40x39 | TM7 | R => S | missense | 3.331e-05 | 2 | 60050 | 0 | 0.0 | 0.913 | |
pe2r1_human | 336 | 7.38x37 | TM7 | A => D | missense | 1.773e-05 | 1 | 56392 | 0 | 0.0 | 0.975 | |
pe2r1_human | 332 | 7.34x33 | TM7 | P => S | missense | 2.696e-05 | 1 | 37096 | 0 | 0.41 | 0.046 | |
pe2r1_human | 331 | 7.33x32 | TM7 | R => P | missense | 8.319e-05 | 3 | 36064 | 0 | 0.04 | 0.357 | |
pe2r1_human | 331 | 7.33x32 | TM7 | R => Q | missense | 2.773e-05 | 1 | 36064 | 0 | 0.19 | 0.003 | |
pe2r1_human | 330 | 7.32x31 | TM7 | Q => R | missense | 3.006e-05 | 1 | 33272 | 0 | 0.33 | 0.728 | |
pe2r1_human | 321 | 6.59x59 | TM6 | V => F | missense | 5.412e-05 | 1 | 18478 | 0 | 0.09 | 0.289 | |
pe2r1_human | 320 | 6.58x58 | TM6 | A => T | missense | 5.55e-05 | 1 | 18018 | 0 | 0.07 | 0.945 | |
pe2r1_human | 313 | 6.51x51 | TM6 | M => V | missense | 0.00015 | 5 | 33334 | 0 | 0.05 | 0.0 | |
pe2r1_human | 308 | 6.46x46 | TM6 | I => V | missense | 2.379e-05 | 1 | 42028 | 0 | 0.1 | 0.006 | |
pe2r1_human | 296 | 6.34x34 | TM6 | V => M | missense | 2.016e-05 | 1 | 49608 | 0 | 0.0 | 0.992 | SodiumPocket MicroSwitch |
pe2r1_human | 294 | 6.32x32 | TM6 | E => D | missense | 6.215e-05 | 3 | 48272 | 0 | 0.01 | 0.973 | GP (contact) |
pe2r1_human | 293 | 6.31x31 | TM6 | V => G | missense | 2.114e-05 | 1 | 47302 | 0 | 0.0 | 0.981 | |
pe2r1_human | 292 | 6.30x30 | TM6 | D => V | missense | 2.157e-05 | 1 | 46364 | 0 | 0.0 | 0.983 | SodiumPocket MicroSwitch |
pe2r1_human | 291 | 6.29x29 | TM6 | H => R | missense | 6.574e-05 | 3 | 45632 | 0 | 0.0 | 0.803 | GP (contact) |
pe2r1_human | 290 | 6.28x28 | TM6 | A => S | missense | 2.235e-05 | 1 | 44740 | 0 | 1.0 | 0.954 | GP (contact) |
pe2r1_human | 290 | 6.28x28 | TM6 | A => T | missense | 2.235e-05 | 1 | 44740 | 0 | 0.07 | 0.948 | GP (contact) |
pe2r1_human | 275 | ICL3 | F => L | missense | 2.746e-05 | 1 | 36416 | 0 | nan | 0.0 | ||
pe2r1_human | 274 | ICL3 | T => I | missense | 2.787e-05 | 1 | 35884 | 0 | nan | 0.02 | ||
pe2r1_human | 274 | ICL3 | T => S | missense | 2.787e-05 | 1 | 35884 | 0 | nan | 0.006 | ||
pe2r1_human | 266 | ICL3 | A => V | missense | 4.45e-05 | 1 | 22470 | 0 | nan | 0.052 | ||
pe2r1_human | 259 | ICL3 | R => G | missense | 7.26e-05 | 1 | 13774 | 0 | nan | 0.913 | ||
pe2r1_human | 256 | ICL3 | H => R | missense | 0.02256 | 266 | 11790 | 35 | 1.0 | 0.0 | ||
pe2r1_human | 255 | ICL3 | A => V | missense | 0.0003029 | 3 | 9904 | 0 | nan | 0.021 | ||
pe2r1_human | 252 | ICL3 | R => L | missense | 0.0001297 | 1 | 7712 | 0 | nan | 0.017 | ||
pe2r1_human | 240 | 5.74x74 | TM5 | R => W | missense | 0.0001921 | 1 | 5206 | 0 | 0.0 | 0.579 | GP (contact) |
pe2r1_human | 231 | 5.65x65 | TM5 | R => G | missense | 0.000153 | 1 | 6534 | 0 | 0.04 | 0.913 | GP (contact) |
pe2r1_human | 189 | 45.51x51 | ECL2 | F => L | missense | 0.000105 | 1 | 9526 | 0 | 0.0 | 0.999 | |
pe2r1_human | 127 | 3.42x42 | TM3 | L => P | missense | 0.0001004 | 1 | 9964 | 0 | 0.0 | 0.999 | |
pe2r1_human | 126 | 3.41x41 | TM3 | L => P | missense | 0.0001971 | 2 | 10148 | 0 | 0.0 | 0.998 | |
pe2r1_human | 118 | 3.33x33 | TM3 | V => A | missense | 0.0002818 | 3 | 10644 | 0 | 0.0 | 0.928 | |
pe2r1_human | 108 | 3.23x23 | TM3 | G => R | missense | 9.372e-05 | 1 | 10670 | 0 | 0.53 | 0.067 | |
pe2r1_human | 105 | 23.51x51 | ECL1 | P => L | missense | 0.000375 | 4 | 10668 | 0 | 0.01 | 0.734 | |
pe2r1_human | 100 | 2.66x66 | TM2 | T => A | missense | 9.362e-05 | 1 | 10682 | 0 | 1.0 | 0.002 | |
pe2r1_human | 83 | 2.49x49 | TM2 | T => N | missense | 0.0007536 | 8 | 10616 | 0 | 0.0 | 0.974 | |
pe2r1_human | 41 | 1.41x41 | TM1 | F => I | missense | 9.915e-05 | 1 | 10086 | 0 | 0.67 | 0.235 | |
pe2r1_human | 40 | 1.40x40 | TM1 | I => V | missense | 9.889e-05 | 1 | 10112 | 0 | 0.32 | 0.118 | |
pe2r1_human | 20 | N-term | A => V | missense | 9.645e-05 | 1 | 10368 | 0 | 0.32 | 0.002 | ||
pe2r1_human | 19 | N-term | A => V | missense | 9.63e-05 | 1 | 10384 | 0 | 0.12 | 0.004 | ||
pe2r1_human | 6 | N-term | P => S | missense | 0.0001972 | 2 | 10140 | 0 | nan | 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