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 |
pf2r_human | 33 | 1.39x39 | TM1 | S => PhefsTer27 | frameshift | 2.473e-05 | 3 | 121292 | 0 | None | None | LB (polar (hydrogen bond), Van der Waals, polar (hydrogen bond with backbone)) |
pf2r_human | 83 | 2.56x56 | TM2 | I => SerfsTer14 | frameshift | 1.647e-05 | 2 | 121410 | 0 | None | None | |
pf2r_human | 151 | 4.41x41 | TM4 | H => ArgfsTer27 | frameshift | 5.766e-05 | 7 | 121396 | 0 | None | None | |
pf2r_human | 161 | 4.51x51 | TM4 | L => PhefsTer6 | frameshift | 8.238e-06 | 1 | 121386 | 0 | None | None | |
pf2r_human | 292 | 7.41x40 | TM7 | M => Ter | stop gained | 8.495e-06 | 1 | 117718 | 0 | None | None | |
pf2r_human | 274 | 6.60x60 | TM6 | I => AsnfsTer3 | frameshift | 8.373e-06 | 1 | 119436 | 0 | None | None | |
pf2r_human | 291 | 7.40x39 | TM7 | R => Ter | stop gained | 3.309e-05 | 4 | 120894 | 0 | None | None | LB (polar (charge-assisted hydrogen bond)) |
pf2r_human | 8 | N-term | Q => L | missense | 0.005935 | 705 | 118786 | 7 | 0.17 | 0.005 | ||
pf2r_human | 10 | N-term | V => A | missense | 0.0001923 | 23 | 119634 | 0 | 1.0 | 0.002 | ||
pf2r_human | 11 | N-term | S => A | missense | 8.347e-06 | 1 | 119802 | 0 | 0.51 | 0.043 | ||
pf2r_human | 14 | N-term | A => V | missense | 2.487e-05 | 3 | 120650 | 0 | 0.3 | 0.005 | ||
pf2r_human | 25 | N-term | E => G | missense | 8.247e-06 | 1 | 121256 | 0 | 0.04 | 0.096 | ||
pf2r_human | 26 | N-term | N => I | missense | 8.246e-06 | 1 | 121264 | 0 | 0.07 | 0.382 | ||
pf2r_human | 27 | N-term | R => W | missense | 8.246e-06 | 1 | 121264 | 0 | 0.03 | 0.003 | ||
pf2r_human | 27 | N-term | R => G | missense | 8.246e-06 | 1 | 121264 | 0 | 0.37 | 0.001 | ||
pf2r_human | 27 | N-term | R => Q | missense | 8.247e-06 | 1 | 121256 | 0 | 0.46 | 0.065 | ||
pf2r_human | 30 | 1.36x36 | TM1 | V => E | missense | 8.244e-06 | 1 | 121296 | 0 | 0.01 | 0.972 | |
pf2r_human | 37 | 1.43x43 | TM1 | M => V | missense | 8.241e-06 | 1 | 121348 | 0 | 0.0 | 0.992 | LB (hydrophobic, Van der Waals) |
pf2r_human | 41 | 1.47x47 | TM1 | I => L | missense | 8.24e-06 | 1 | 121366 | 0 | 0.01 | 0.891 | |
pf2r_human | 45 | 1.51x51 | TM1 | S => R | missense | 8.239e-06 | 1 | 121370 | 0 | 0.04 | 0.992 | |
pf2r_human | 47 | 1.53x53 | TM1 | A => V | missense | 1.648e-05 | 2 | 121380 | 0 | 0.0 | 1.0 | |
pf2r_human | 49 | 1.55x55 | TM1 | A => T | missense | 8.239e-06 | 1 | 121380 | 0 | 0.25 | 0.733 | |
pf2r_human | 54 | 1.60x60 | TM1 | A => P | missense | 2.471e-05 | 3 | 121404 | 1 | 0.0 | 0.997 | |
pf2r_human | 60 | 1.66x66 | TM1 | Q => R | missense | 8.237e-06 | 1 | 121404 | 0 | 1.0 | 0.012 | |
pf2r_human | 63 | ICL1 | K => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.995 | ||
pf2r_human | 64 | 2.37x37 | TM2 | A => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.933 | |
pf2r_human | 67 | 2.40x40 | TM2 | L => R | missense | 7.413e-05 | 9 | 121408 | 0 | 0.0 | 1.0 | |
pf2r_human | 70 | 2.43x43 | TM2 | A => T | missense | 1.647e-05 | 2 | 121408 | 0 | 0.0 | 1.0 | |
pf2r_human | 75 | 2.48x48 | TM2 | I => T | missense | 8.237e-06 | 1 | 121408 | 0 | 0.05 | 0.189 | |
pf2r_human | 78 | 2.51x51 | TM2 | F => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.02 | 0.723 | |
pf2r_human | 91 | 2.64x64 | TM2 | V => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 0.999 | |
pf2r_human | 100 | 23.52x52 | ECL1 | R => H | missense | 8.236e-06 | 1 | 121412 | 0 | 0.15 | 0.009 | |
pf2r_human | 104 | ECL1 | S => L | missense | 2.471e-05 | 3 | 121410 | 0 | 0.17 | 0.314 | ||
pf2r_human | 106 | 3.23x23 | TM3 | V => I | missense | 1.647e-05 | 2 | 121410 | 0 | 0.49 | 0.008 | |
pf2r_human | 109 | 3.26x26 | TM3 | S => G | missense | 8.237e-06 | 1 | 121410 | 0 | 0.19 | 0.867 | |
pf2r_human | 109 | 3.26x26 | TM3 | S => R | missense | 8.237e-06 | 1 | 121408 | 0 | 0.27 | 0.969 | |
pf2r_human | 110 | 3.27x27 | TM3 | I => V | missense | 8.237e-06 | 1 | 121410 | 0 | 0.34 | 0.012 | |
pf2r_human | 115 | 3.32x32 | TM3 | M => L | missense | 8.237e-06 | 1 | 121410 | 0 | 0.04 | 0.993 | LB (hydrophobic, Van der Waals) |
pf2r_human | 130 | 3.47x47 | TM3 | A => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
pf2r_human | 133 | 3.50x50 | TM3 | R => Q | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
pf2r_human | 138 | 3.55x55 | TM3 | T => S | missense | 8.237e-06 | 1 | 121408 | 0 | 0.03 | 0.957 | GP (contact) |
pf2r_human | 142 | 34.52x52 | ICL2 | F => C | missense | 1.647e-05 | 2 | 121408 | 0 | 0.0 | 1.0 | GP (contact) |
pf2r_human | 145 | 34.55x55 | ICL2 | T => M | missense | 0.0002801 | 34 | 121402 | 0 | 0.06 | 0.993 | GP (contact) |
pf2r_human | 147 | 34.57x57 | ICL2 | I => N | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.74 | GP (contact) |
pf2r_human | 148 | 4.38x38 | TM4 | T => A | missense | 9.061e-05 | 11 | 121398 | 0 | 0.13 | 0.401 | |
pf2r_human | 149 | 4.39x39 | TM4 | S => P | missense | 8.238e-06 | 1 | 121396 | 0 | 0.03 | 0.953 | |
pf2r_human | 149 | 4.39x39 | TM4 | S => F | missense | 1.648e-05 | 2 | 121396 | 0 | 0.12 | 0.816 | |
pf2r_human | 151 | 4.41x41 | TM4 | H => D | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.924 | |
pf2r_human | 152 | 4.42x42 | TM4 | V => M | missense | 8.238e-06 | 1 | 121382 | 0 | 0.29 | 0.525 | |
pf2r_human | 155 | 4.45x45 | TM4 | M => I | missense | 0.003584 | 435 | 121384 | 1 | 0.59 | 0.002 | |
pf2r_human | 159 | 4.49x49 | TM4 | V => M | missense | 8.238e-06 | 1 | 121384 | 0 | 0.01 | 0.824 | |
pf2r_human | 159 | 4.49x49 | TM4 | V => A | missense | 1.648e-05 | 2 | 121388 | 0 | 0.05 | 0.02 | |
pf2r_human | 162 | 4.52x52 | TM4 | F => L | missense | 8.238e-06 | 1 | 121382 | 0 | 1.0 | 0.006 | |
pf2r_human | 163 | 4.53x53 | TM4 | A => D | missense | 1.648e-05 | 2 | 121374 | 0 | 0.0 | 0.995 | |
pf2r_human | 164 | 4.54x54 | TM4 | V => L | missense | 8.239e-06 | 1 | 121374 | 0 | 1.0 | 0.014 | |
pf2r_human | 166 | 4.56x56 | TM4 | I => T | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 0.392 | |
pf2r_human | 172 | 4.62x62 | TM4 | L => F | missense | 3.296e-05 | 4 | 121354 | 0 | 0.54 | 0.25 | |
pf2r_human | 174 | ECL2 | H => Y | missense | 8.24e-06 | 1 | 121362 | 0 | 0.88 | 0.102 | ||
pf2r_human | 175 | ECL2 | R => Q | missense | 8.24e-06 | 1 | 121358 | 0 | 0.28 | 0.783 | ||
pf2r_human | 178 | ECL2 | K => T | missense | 8.24e-06 | 1 | 121354 | 0 | 0.65 | 0.013 | ||
pf2r_human | 179 | ECL2 | I => V | missense | 3.296e-05 | 4 | 121354 | 0 | 0.85 | 0.272 | ||
pf2r_human | 186 | 45.50x50 | ECL2 | C => R | missense | 8.241e-06 | 1 | 121340 | 0 | 0.0 | 1.0 | |
pf2r_human | 191 | ECL2 | E => V | missense | 8.243e-06 | 1 | 121318 | 0 | 0.26 | 0.868 | ||
pf2r_human | 192 | ECL2 | D => N | missense | 5.77e-05 | 7 | 121314 | 0 | 0.6 | 0.002 | ||
pf2r_human | 192 | ECL2 | D => G | missense | 1.649e-05 | 2 | 121320 | 0 | 0.46 | 0.002 | ||
pf2r_human | 194 | ECL2 | K => E | missense | 8.244e-06 | 1 | 121300 | 0 | 1.0 | 0.006 | ||
pf2r_human | 196 | 5.32x32 | TM5 | W => R | missense | 8.245e-06 | 1 | 121280 | 0 | 0.35 | 1.0 | |
pf2r_human | 196 | 5.32x32 | TM5 | W => L | missense | 8.246e-06 | 1 | 121274 | 0 | 0.14 | 1.0 | |
pf2r_human | 196 | 5.32x32 | TM5 | W => C | missense | 8.246e-06 | 1 | 121272 | 0 | 0.04 | 1.0 | |
pf2r_human | 199 | 5.35x35 | TM5 | R => G | missense | 8.248e-06 | 1 | 121240 | 0 | 0.01 | 0.777 | |
pf2r_human | 218 | 5.54x54 | TM5 | L => S | missense | 0.001299 | 157 | 120824 | 2 | 0.03 | 0.038 | |
pf2r_human | 229 | 5.65x65 | TM5 | R => K | missense | 3.337e-05 | 4 | 119880 | 0 | 0.22 | 0.02 | GP (contact) |
pf2r_human | 230 | 5.66x66 | TM5 | V => A | missense | 0.0002674 | 32 | 119680 | 0 | 1.0 | 0.07 | GP (contact) |
pf2r_human | 235 | 5.71x71 | TM5 | Q => R | missense | 8.434e-06 | 1 | 118570 | 0 | 0.59 | 0.542 | GP (contact) |
pf2r_human | 236 | ICL3 | Q => R | missense | 8.461e-06 | 1 | 118190 | 0 | 0.5 | 0.02 | ||
pf2r_human | 243 | 6.29x29 | TM6 | H => R | missense | 8.622e-06 | 1 | 115978 | 0 | 0.05 | 0.919 | GP (contact) |
pf2r_human | 248 | 6.34x34 | TM6 | V => G | missense | 1.752e-05 | 2 | 114170 | 0 | 0.0 | 0.901 | SodiumPocket MicroSwitch |
pf2r_human | 253 | 6.39x39 | TM6 | A => V | missense | 6.277e-05 | 7 | 111518 | 0 | 0.03 | 0.411 | |
pf2r_human | 255 | 6.41x41 | TM6 | M => T | missense | 9.017e-06 | 1 | 110902 | 0 | 0.0 | 0.999 | |
pf2r_human | 267 | 6.53x53 | TM6 | V => I | missense | 8.542e-06 | 1 | 117072 | 0 | 0.68 | 0.004 | |
pf2r_human | 272 | 6.58x58 | TM6 | I => T | missense | 8.373e-06 | 1 | 119436 | 0 | 0.23 | 0.372 | |
pf2r_human | 279 | ECL3 | S => F | missense | 8.301e-06 | 1 | 120468 | 0 | 0.11 | 0.01 | ||
pf2r_human | 288 | 7.37x36 | TM7 | F => S | missense | 1.655e-05 | 2 | 120872 | 0 | 0.02 | 0.186 | |
pf2r_human | 305 | 7.54x54 | TM7 | I => T | missense | 8.26e-06 | 1 | 121062 | 0 | 0.0 | 0.999 | |
pf2r_human | 308 | 8.47x47 | H8 | R => Q | missense | 2.478e-05 | 3 | 121064 | 0 | 0.0 | 0.999 | GP (contact) |
pf2r_human | 309 | 8.48x48 | H8 | K => T | missense | 0.0001074 | 13 | 121066 | 0 | 0.01 | 0.886 | GP (contact) |
pf2r_human | 310 | 8.49x49 | H8 | A => T | missense | 8.26e-06 | 1 | 121072 | 0 | 0.18 | 0.382 | GP (contact) |
pf2r_human | 313 | 8.52x52 | H8 | K => R | missense | 0.0002643 | 32 | 121082 | 0 | 1.0 | 0.003 | |
pf2r_human | 314 | 8.53x53 | H8 | N => H | missense | 5.781e-05 | 7 | 121082 | 0 | 0.01 | 0.45 | |
pf2r_human | 314 | 8.53x53 | H8 | N => Y | missense | 8.259e-06 | 1 | 121082 | 0 | 0.0 | 0.547 | |
pf2r_human | 316 | 8.55x55 | H8 | Y => C | missense | 3.304e-05 | 4 | 121080 | 0 | 0.05 | 0.847 | |
pf2r_human | 316 | 8.55x55 | H8 | Y => S | missense | 8.259e-06 | 1 | 121080 | 0 | 0.0 | 0.649 | |
pf2r_human | 326 | 8.65x65 | H8 | H => Q | missense | 8.265e-06 | 1 | 120994 | 0 | 0.14 | 0.002 | |
pf2r_human | 328 | C-term | I => V | missense | 8.268e-06 | 1 | 120954 | 0 | 0.6 | 0.002 | ||
pf2r_human | 331 | C-term | H => R | missense | 2.482e-05 | 3 | 120892 | 0 | 0.55 | 0.391 | ||
pf2r_human | 338 | C-term | I => V | missense | 0.003772 | 455 | 120638 | 1 | 0.31 | 0.012 | ||
pf2r_human | 338 | C-term | I => T | missense | 8.29e-06 | 1 | 120632 | 0 | 0.01 | 0.25 | ||
pf2r_human | 339 | C-term | K => N | missense | 8.298e-06 | 1 | 120504 | 0 | 0.28 | 0.726 | ||
pf2r_human | 340 | C-term | N => S | missense | 1.66e-05 | 2 | 120500 | 0 | 1.0 | 0.0 | ||
pf2r_human | 343 | C-term | K => Q | missense | 1.663e-05 | 2 | 120296 | 0 | 0.07 | 0.728 | ||
pf2r_human | 344 | C-term | V => F | missense | 8.319e-06 | 1 | 120208 | 0 | 0.05 | 0.157 | ||
pf2r_human | 344 | C-term | V => G | missense | 2.498e-05 | 3 | 120074 | 0 | 0.41 | 0.002 | ||
pf2r_human | 345 | C-term | A => T | missense | 8.329e-06 | 1 | 120062 | 0 | 0.05 | 0.804 | ||
pf2r_human | 353 | C-term | A => S | missense | 8.421e-06 | 1 | 118748 | 0 | 0.66 | 0.001 | ||
pf2r_human | 353 | C-term | A => V | missense | 8.446e-06 | 1 | 118404 | 0 | 0.42 | 0.001 | ||
pf2r_human | 354 | C-term | E => K | missense | 8.447e-06 | 1 | 118384 | 0 | nan | 0.002 | ||
pf2r_human | 355 | C-term | K => E | missense | 1.695e-05 | 2 | 118016 | 1 | nan | 0.165 | ||
pf2r_human | 356 | C-term | S => A | missense | 1.7e-05 | 2 | 117652 | 0 | nan | 0.0 | ||
pf2r_human | 356 | C-term | S => L | missense | 8.52e-06 | 1 | 117376 | 0 | nan | 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