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 |
hrh3_human | 237 | ICL3 | R => Ter | stop gained | 9.165e-06 | 1 | 109106 | 0 | None | None | ||
hrh3_human | 191 | ECL2 | E => Ter | stop gained | 1.668e-05 | 2 | 119906 | 0 | None | None | ||
hrh3_human | 439 | C-term | S => Y | missense | 3.026e-05 | 1 | 33052 | 0 | 0.01 | 0.747 | ||
hrh3_human | 438 | C-term | S => I | missense | 2.874e-05 | 1 | 34796 | 0 | 0.49 | 0.012 | ||
hrh3_human | 431 | C-term | K => N | missense | 1.945e-05 | 1 | 51410 | 0 | 0.0 | 0.876 | ||
hrh3_human | 421 | 8.52x52 | H8 | R => Q | missense | 3.677e-05 | 3 | 81582 | 0 | 0.04 | 0.516 | |
hrh3_human | 421 | 8.52x52 | H8 | R => P | missense | 1.226e-05 | 1 | 81582 | 0 | 0.0 | 0.956 | |
hrh3_human | 421 | 8.52x52 | H8 | R => W | missense | 1.204e-05 | 1 | 83082 | 0 | 0.0 | 0.982 | |
hrh3_human | 420 | 8.51x51 | H8 | R => H | missense | 3.523e-05 | 3 | 85148 | 1 | 0.0 | 0.975 | GP (contact) |
hrh3_human | 418 | 8.49x49 | H8 | S => T | missense | 1.076e-05 | 1 | 92974 | 0 | 0.01 | 0.883 | GP (contact) |
hrh3_human | 407 | 7.48x48 | TM7 | V => I | missense | 1.816e-05 | 2 | 110132 | 0 | 1.0 | 0.124 | |
hrh3_human | 405 | 7.46x46 | TM7 | S => L | missense | 8.915e-06 | 1 | 112170 | 0 | 0.0 | 1.0 | |
hrh3_human | 403 | 7.44x43 | TM7 | A => V | missense | 8.813e-06 | 1 | 113470 | 0 | 0.71 | 0.01 | SodiumPocket MicroSwitch |
hrh3_human | 389 | ECL3 | V => I | missense | 0.0003738 | 44 | 117704 | 0 | 0.67 | 0.014 | ||
hrh3_human | 387 | ECL3 | H => Y | missense | 8.478e-06 | 1 | 117948 | 0 | 0.02 | 0.002 | ||
hrh3_human | 385 | ECL3 | H => R | missense | 8.463e-06 | 1 | 118158 | 0 | 0.17 | 0.039 | ||
hrh3_human | 383 | 6.60x60 | TM6 | A => S | missense | 8.459e-06 | 1 | 118212 | 0 | 0.0 | 0.713 | |
hrh3_human | 383 | 6.60x60 | TM6 | A => T | missense | 1.692e-05 | 2 | 118212 | 0 | 0.02 | 0.277 | |
hrh3_human | 381 | 6.58x58 | TM6 | R => Q | missense | 8.441e-06 | 1 | 118472 | 0 | 0.0 | 0.757 | |
hrh3_human | 381 | 6.58x58 | TM6 | R => W | missense | 8.44e-06 | 1 | 118478 | 0 | 0.0 | 0.994 | |
hrh3_human | 370 | 6.47x47 | TM6 | C => Y | missense | 8.457e-06 | 1 | 118252 | 0 | 0.0 | 0.999 | |
hrh3_human | 365 | 6.42x42 | TM6 | S => C | missense | 8.538e-06 | 1 | 117130 | 0 | 1.0 | 0.012 | |
hrh3_human | 362 | 6.39x39 | TM6 | V => I | missense | 0.0008549 | 99 | 115800 | 1 | 1.0 | 0.021 | |
hrh3_human | 349 | 6.26x26 | TM6 | R => W | missense | 1.863e-05 | 2 | 107336 | 0 | 0.0 | 0.989 | GP (contact) |
hrh3_human | 347 | 6.24x24 | TM6 | R => C | missense | 2.86e-05 | 3 | 104900 | 0 | 0.03 | 0.502 | |
hrh3_human | 340 | ICL3 | V => L | missense | 1.005e-05 | 1 | 99488 | 0 | 0.13 | 0.017 | ||
hrh3_human | 336 | ICL3 | R => H | missense | 1.079e-05 | 1 | 92666 | 0 | 0.01 | 0.112 | ||
hrh3_human | 332 | ICL3 | S => L | missense | 1.542e-05 | 1 | 64848 | 0 | 0.07 | 0.49 | ||
hrh3_human | 330 | ICL3 | S => L | missense | 1.832e-05 | 1 | 54596 | 0 | 0.1 | 0.227 | ||
hrh3_human | 328 | ICL3 | A => S | missense | 2.192e-05 | 1 | 45620 | 0 | 0.63 | 0.01 | ||
hrh3_human | 320 | ICL3 | L => I | missense | 0.0003515 | 8 | 22758 | 0 | 0.32 | 0.119 | ||
hrh3_human | 311 | ICL3 | S => L | missense | 0.0001298 | 2 | 15404 | 0 | 0.55 | 0.102 | ||
hrh3_human | 308 | ICL3 | G => S | missense | 7.279e-05 | 1 | 13738 | 0 | 0.77 | 0.007 | ||
hrh3_human | 300 | ICL3 | V => M | missense | 8.699e-05 | 1 | 11496 | 0 | 0.24 | 0.002 | ||
hrh3_human | 292 | ICL3 | G => R | missense | 0.0002085 | 3 | 14390 | 0 | 0.51 | 0.995 | ||
hrh3_human | 292 | ICL3 | G => R | missense | 6.949e-05 | 1 | 14390 | 0 | 0.51 | 0.995 | ||
hrh3_human | 290 | ICL3 | T => P | missense | 0.0001234 | 2 | 16210 | 0 | 0.39 | 0.006 | ||
hrh3_human | 289 | ICL3 | A => V | missense | 0.0005746 | 10 | 17402 | 0 | 0.34 | 0.001 | ||
hrh3_human | 287 | ICL3 | G => R | missense | 4.814e-05 | 1 | 20772 | 0 | 0.53 | 0.995 | ||
hrh3_human | 285 | ICL3 | E => K | missense | 4.073e-05 | 1 | 24552 | 0 | 0.58 | 0.126 | ||
hrh3_human | 284 | ICL3 | A => V | missense | 0.0001959 | 5 | 25524 | 0 | 0.17 | 0.014 | ||
hrh3_human | 282 | ICL3 | V => I | missense | 9.949e-05 | 3 | 30154 | 0 | 0.23 | 0.017 | ||
hrh3_human | 280 | ICL3 | A => V | missense | 5.424e-05 | 2 | 36876 | 0 | 0.31 | 0.003 | ||
hrh3_human | 279 | ICL3 | E => K | missense | 2.392e-05 | 1 | 41814 | 0 | 0.55 | 0.085 | ||
hrh3_human | 271 | ICL3 | P => L | missense | 0.0001156 | 7 | 60578 | 0 | 0.18 | 0.065 | ||
hrh3_human | 271 | ICL3 | P => S | missense | 0.0001815 | 11 | 60598 | 0 | 0.29 | 0.009 | ||
hrh3_human | 270 | ICL3 | M => T | missense | 1.581e-05 | 1 | 63258 | 0 | 0.73 | 0.007 | ||
hrh3_human | 267 | ICL3 | G => R | missense | 0.0003705 | 25 | 67478 | 0 | 0.37 | 0.008 | ||
hrh3_human | 267 | ICL3 | G => R | missense | 2.964e-05 | 2 | 67478 | 0 | 0.37 | 0.008 | ||
hrh3_human | 266 | ICL3 | H => Y | missense | 1.442e-05 | 1 | 69372 | 0 | 0.04 | 0.06 | ||
hrh3_human | 265 | ICL3 | G => R | missense | 1.406e-05 | 1 | 71104 | 0 | 0.51 | 0.196 | ||
hrh3_human | 264 | ICL3 | K => R | missense | 1.391e-05 | 1 | 71910 | 0 | 0.38 | 0.005 | ||
hrh3_human | 262 | ICL3 | W => C | missense | 1.371e-05 | 1 | 72918 | 0 | 0.15 | 0.875 | ||
hrh3_human | 258 | ICL3 | C => F | missense | 1.292e-05 | 1 | 77384 | 0 | 0.27 | 0.477 | ||
hrh3_human | 257 | ICL3 | G => A | missense | 5.124e-05 | 4 | 78070 | 0 | 0.25 | 0.023 | ||
hrh3_human | 255 | ICL3 | P => L | missense | 1.266e-05 | 1 | 78960 | 0 | 0.19 | 0.0 | ||
hrh3_human | 254 | ICL3 | P => S | missense | 2.488e-05 | 2 | 80374 | 0 | 0.51 | 0.006 | ||
hrh3_human | 253 | ICL3 | P => L | missense | 1.232e-05 | 1 | 81176 | 0 | 0.22 | 0.059 | ||
hrh3_human | 251 | ICL3 | S => L | missense | 1.207e-05 | 1 | 82838 | 0 | 0.07 | 0.419 | ||
hrh3_human | 248 | ICL3 | A => V | missense | 1.164e-05 | 1 | 85920 | 0 | 0.29 | 0.015 | ||
hrh3_human | 247 | ICL3 | E => K | missense | 5.728e-05 | 5 | 87294 | 0 | 0.43 | 0.146 | ||
hrh3_human | 246 | ICL3 | P => R | missense | 1.112e-05 | 1 | 89962 | 0 | 0.62 | 0.187 | ||
hrh3_human | 243 | ICL3 | E => K | missense | 2.126e-05 | 2 | 94054 | 0 | 0.23 | 0.09 | ||
hrh3_human | 242 | ICL3 | P => L | missense | 1.034e-05 | 1 | 96690 | 0 | 0.33 | 0.016 | ||
hrh3_human | 241 | ICL3 | G => R | missense | 1.007e-05 | 1 | 99288 | 0 | 0.37 | 0.232 | ||
hrh3_human | 237 | ICL3 | R => Q | missense | 0.000176 | 19 | 107944 | 0 | 0.6 | 0.007 | ||
hrh3_human | 237 | ICL3 | R => P | missense | 9.264e-06 | 1 | 107944 | 0 | 0.26 | 0.446 | ||
hrh3_human | 237 | ICL3 | R => G | missense | 9.165e-06 | 1 | 109106 | 0 | 0.38 | 0.165 | ||
hrh3_human | 236 | ICL3 | A => S | missense | 2.711e-05 | 3 | 110664 | 0 | 0.43 | 0.093 | ||
hrh3_human | 234 | 5.74x74 | TM5 | D => H | missense | 8.833e-06 | 1 | 113212 | 0 | 0.19 | 0.983 | GP (contact) |
hrh3_human | 230 | 5.70x70 | TM5 | R => H | missense | 8.633e-06 | 1 | 115834 | 0 | 0.01 | 0.938 | |
hrh3_human | 230 | 5.70x70 | TM5 | R => C | missense | 2.576e-05 | 3 | 116440 | 0 | 0.03 | 0.938 | |
hrh3_human | 230 | 5.70x70 | TM5 | R => S | missense | 8.588e-05 | 10 | 116440 | 0 | 0.26 | 0.668 | |
hrh3_human | 228 | 5.68x68 | TM5 | R => H | missense | 8.511e-06 | 1 | 117492 | 0 | 0.08 | 0.999 | GP (contact) |
hrh3_human | 228 | 5.68x68 | TM5 | R => C | missense | 8.493e-06 | 1 | 117740 | 0 | 0.0 | 0.999 | GP (contact) |
hrh3_human | 214 | 5.54x54 | TM5 | V => I | missense | 7.511e-05 | 9 | 119826 | 0 | 0.0 | 0.995 | |
hrh3_human | 214 | 5.54x54 | TM5 | V => F | missense | 8.345e-06 | 1 | 119826 | 0 | 0.0 | 0.999 | |
hrh3_human | 208 | 5.48x48 | TM5 | F => L | missense | 8.331e-06 | 1 | 120032 | 0 | 0.03 | 0.992 | |
hrh3_human | 201 | 5.41x42 | TM5 | T => M | missense | 6.665e-05 | 8 | 120024 | 0 | 0.14 | 0.845 | |
hrh3_human | 198 | 5.38x39 | TM5 | F => Y | missense | 8.332e-06 | 1 | 120022 | 0 | 0.0 | 0.995 | |
hrh3_human | 186 | ECL2 | G => D | missense | 2.504e-05 | 3 | 119788 | 0 | 0.5 | 0.959 | ||
hrh3_human | 185 | ECL2 | E => K | missense | 1.67e-05 | 2 | 119744 | 0 | 0.33 | 0.362 | ||
hrh3_human | 183 | ECL2 | I => T | missense | 8.351e-06 | 1 | 119748 | 0 | 0.08 | 0.998 | ||
hrh3_human | 179 | ECL2 | G => R | missense | 1.672e-05 | 2 | 119616 | 0 | 0.04 | 1.0 | ||
hrh3_human | 164 | 4.54x54 | TM4 | F => C | missense | 8.404e-06 | 1 | 118996 | 0 | 0.0 | 0.999 | |
hrh3_human | 159 | 4.49x49 | TM4 | V => L | missense | 8.458e-06 | 1 | 118228 | 0 | 0.01 | 0.994 | |
hrh3_human | 156 | 4.46x46 | TM4 | M => T | missense | 8.512e-06 | 1 | 117484 | 0 | 0.01 | 0.985 | |
hrh3_human | 154 | 4.44x44 | TM4 | R => Q | missense | 1.723e-05 | 2 | 116094 | 0 | 0.16 | 0.002 | |
hrh3_human | 154 | 4.44x44 | TM4 | R => W | missense | 8.617e-06 | 1 | 116054 | 0 | 0.07 | 0.003 | |
hrh3_human | 152 | 4.42x42 | TM4 | A => P | missense | 8.697e-06 | 1 | 114982 | 0 | 0.34 | 0.999 | |
hrh3_human | 151 | 4.41x41 | TM4 | R => Q | missense | 8.728e-06 | 1 | 114574 | 0 | 0.43 | 0.019 | |
hrh3_human | 151 | 4.41x41 | TM4 | R => W | missense | 1.746e-05 | 2 | 114538 | 0 | 0.0 | 0.877 | |
hrh3_human | 149 | 4.39x39 | TM4 | T => K | missense | 1.764e-05 | 2 | 113398 | 0 | 0.0 | 0.959 | |
hrh3_human | 149 | 4.39x39 | TM4 | T => M | missense | 8.818e-06 | 1 | 113398 | 0 | 0.08 | 0.989 | |
hrh3_human | 149 | 4.39x39 | TM4 | T => A | missense | 8.817e-06 | 1 | 113412 | 0 | 0.01 | 0.754 | |
hrh3_human | 147 | 34.58x58 | ICL2 | G => R | missense | 8.946e-06 | 1 | 111778 | 0 | 0.02 | 0.969 | |
hrh3_human | 145 | 34.56x56 | ICL2 | Q => R | missense | 9.027e-06 | 1 | 110774 | 0 | 0.06 | 0.992 | GP (contact) |
hrh3_human | 144 | 34.55x55 | ICL2 | A => V | missense | 9.099e-06 | 1 | 109904 | 0 | 0.05 | 0.644 | GP (contact) |
hrh3_human | 143 | 34.54x54 | ICL2 | R => W | missense | 7.373e-05 | 8 | 108498 | 0 | 0.0 | 1.0 | GP (contact) |
hrh3_human | 139 | 34.50x50 | ICL2 | A => V | missense | 9.579e-06 | 1 | 104390 | 0 | 0.02 | 0.688 | GP (contact) |
hrh3_human | 138 | 3.56x56 | TM3 | R => Q | missense | 9.447e-06 | 1 | 105850 | 0 | 0.06 | 0.781 | GP (contact) |
hrh3_human | 131 | 3.49x49 | TM3 | D => N | missense | 8.941e-06 | 1 | 111842 | 0 | 0.02 | 0.807 | SodiumPocket MicroSwitch |
hrh3_human | 129 | 3.47x47 | TM3 | S => G | missense | 8.846e-06 | 1 | 113044 | 0 | 0.0 | 0.668 | |
hrh3_human | 126 | 3.44x44 | TM3 | V => M | missense | 8.781e-06 | 1 | 113876 | 0 | 0.0 | 0.955 | |
hrh3_human | 126 | 3.44x44 | TM3 | V => L | missense | 3.513e-05 | 4 | 113876 | 0 | 0.0 | 0.639 | |
hrh3_human | 125 | 3.43x43 | TM3 | I => L | missense | 8.755e-06 | 1 | 114224 | 0 | 0.0 | 0.376 | |
hrh3_human | 120 | 3.38x38 | TM3 | S => T | missense | 8.7e-06 | 1 | 114940 | 0 | 0.07 | 0.11 | |
hrh3_human | 104 | 3.22x22 | TM3 | R => Q | missense | 0.0001639 | 19 | 115956 | 0 | 0.01 | 0.738 | |
hrh3_human | 104 | 3.22x22 | TM3 | R => W | missense | 8.613e-06 | 1 | 116104 | 0 | 0.0 | 0.983 | |
hrh3_human | 103 | 3.21x21 | TM3 | G => S | missense | 0.0003274 | 38 | 116064 | 0 | 0.0 | 1.0 | |
hrh3_human | 99 | 23.49x49 | ECL1 | R => H | missense | 8.626e-06 | 1 | 115924 | 0 | 0.01 | 0.938 | |
hrh3_human | 99 | 23.49x49 | ECL1 | R => C | missense | 8.625e-06 | 1 | 115940 | 0 | 0.0 | 0.938 | |
hrh3_human | 85 | 2.55x55 | TM2 | A => T | missense | 8.757e-06 | 1 | 114192 | 0 | 0.01 | 0.807 | |
hrh3_human | 69 | 2.39x39 | TM2 | N => H | missense | 8.431e-06 | 1 | 118612 | 0 | 0.03 | 0.998 | |
hrh3_human | 59 | 1.57x57 | TM1 | F => L | missense | 8.515e-06 | 1 | 117436 | 0 | 0.0 | 0.98 | |
hrh3_human | 48 | 1.46x46 | TM1 | T => M | missense | 9.018e-06 | 1 | 110890 | 0 | 0.0 | 0.968 | |
hrh3_human | 41 | 1.39x39 | TM1 | M => L | missense | 1.049e-05 | 1 | 95304 | 0 | 0.02 | 0.14 | |
hrh3_human | 39 | 1.37x37 | TM1 | A => V | missense | 2.213e-05 | 2 | 90356 | 0 | 1.0 | 0.499 | |
hrh3_human | 36 | 1.34x34 | TM1 | V => M | missense | 1.269e-05 | 1 | 78798 | 0 | 0.01 | 0.934 |
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