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 |
hrh2_human | 354 | C-term | Q => ArgfsTer19 | frameshift | 8.333e-06 | 1 | 120000 | 0 | None | None | ||
hrh2_human | 4 | N-term | N => S | missense | 8.29e-06 | 1 | 120620 | 0 | 0.05 | 0.008 | ||
hrh2_human | 15 | 1.29x29 | TM1 | T => S | missense | 8.24e-06 | 1 | 121354 | 0 | 0.58 | 0.016 | |
hrh2_human | 16 | 1.30x30 | TM1 | A => T | missense | 2.472e-05 | 3 | 121366 | 0 | 0.29 | 0.005 | |
hrh2_human | 17 | 1.31x31 | TM1 | C => R | missense | 8.239e-06 | 1 | 121380 | 0 | 0.35 | 0.014 | |
hrh2_human | 20 | 1.34x34 | TM1 | T => A | missense | 1.648e-05 | 2 | 121390 | 0 | 0.45 | 0.006 | |
hrh2_human | 23 | 1.37x37 | TM1 | V => M | missense | 1.647e-05 | 2 | 121412 | 0 | 0.07 | 0.021 | |
hrh2_human | 26 | 1.40x40 | TM1 | A => V | missense | 1.647e-05 | 2 | 121412 | 0 | 0.65 | 0.0 | |
hrh2_human | 26 | 1.40x40 | TM1 | A => E | missense | 8.236e-06 | 1 | 121412 | 0 | 0.28 | 0.036 | |
hrh2_human | 33 | 1.47x47 | TM1 | V => I | missense | 0.0001647 | 20 | 121412 | 0 | 1.0 | 0.002 | |
hrh2_human | 34 | 1.48x48 | TM1 | A => G | missense | 4.118e-05 | 5 | 121412 | 0 | 0.49 | 0.652 | |
hrh2_human | 38 | 1.52x52 | TM1 | V => L | missense | 8.236e-06 | 1 | 121412 | 0 | 1.0 | 0.173 | |
hrh2_human | 39 | 1.53x53 | TM1 | V => I | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.999 | |
hrh2_human | 42 | 1.56x56 | TM1 | A => V | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.951 | |
hrh2_human | 47 | 12.48x48 | ICL1 | R => C | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.998 | |
hrh2_human | 48 | 12.49x49 | ICL1 | R => Q | missense | 8.237e-06 | 1 | 121410 | 0 | 0.05 | 0.499 | |
hrh2_human | 50 | 12.51x51 | ICL1 | R => H | missense | 8.237e-06 | 1 | 121410 | 0 | 0.01 | 1.0 | |
hrh2_human | 58 | 2.44x44 | TM2 | V => M | missense | 9.06e-05 | 11 | 121408 | 0 | 0.03 | 0.73 | |
hrh2_human | 77 | 2.63x62 | TM2 | I => V | missense | 8.237e-06 | 1 | 121406 | 0 | 0.4 | 0.023 | |
hrh2_human | 85 | 23.51x51 | ECL1 | S => N | missense | 8.237e-06 | 1 | 121406 | 0 | 0.16 | 0.035 | |
hrh2_human | 92 | 3.26x26 | TM3 | N => S | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 0.262 | |
hrh2_human | 108 | 3.42x42 | TM3 | N => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.28 | 0.437 | |
hrh2_human | 116 | 3.50x50 | TM3 | R => W | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
hrh2_human | 121 | 3.55x55 | TM3 | M => T | missense | 8.237e-06 | 1 | 121398 | 0 | 1.0 | 0.0 | GP (contact) |
hrh2_human | 125 | 34.52x52 | ICL2 | R => W | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.999 | GP (contact) |
hrh2_human | 125 | 34.52x52 | ICL2 | R => Q | missense | 8.238e-06 | 1 | 121390 | 0 | 0.04 | 0.985 | GP (contact) |
hrh2_human | 136 | 4.43x43 | TM4 | A => T | missense | 8.239e-06 | 1 | 121372 | 0 | 0.26 | 0.081 | |
hrh2_human | 137 | 4.44x44 | TM4 | I => V | missense | 8.238e-06 | 1 | 121386 | 0 | 0.86 | 0.009 | |
hrh2_human | 144 | 4.51x51 | TM4 | V => F | missense | 8.238e-06 | 1 | 121388 | 0 | 0.05 | 0.913 | |
hrh2_human | 154 | 4.61x61 | TM4 | I => T | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 1.0 | |
hrh2_human | 155 | 4.62x62 | TM4 | H => N | missense | 8.238e-06 | 1 | 121392 | 0 | 0.03 | 0.992 | |
hrh2_human | 157 | 4.64x64 | TM4 | G => E | missense | 8.238e-06 | 1 | 121392 | 0 | 0.07 | 0.558 | |
hrh2_human | 162 | ECL2 | N => H | missense | 3.295e-05 | 4 | 121402 | 0 | 0.04 | 0.078 | ||
hrh2_human | 172 | ECL2 | S => F | missense | 1.647e-05 | 2 | 121400 | 0 | 0.05 | 0.005 | ||
hrh2_human | 200 | 5.56x56 | TM5 | I => V | missense | 1.648e-05 | 2 | 121384 | 0 | 0.94 | 0.006 | |
hrh2_human | 204 | 5.60x60 | TM5 | R => C | missense | 8.239e-06 | 1 | 121378 | 0 | 0.1 | 1.0 | |
hrh2_human | 204 | 5.60x60 | TM5 | R => H | missense | 8.239e-06 | 1 | 121370 | 0 | 0.01 | 0.998 | |
hrh2_human | 229 | 6.30x30 | TM6 | E => K | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 0.895 | SodiumPocket MicroSwitch |
hrh2_human | 238 | 6.39x39 | TM6 | A => T | missense | 1.648e-05 | 2 | 121356 | 0 | 0.15 | 0.477 | |
hrh2_human | 238 | 6.39x39 | TM6 | A => V | missense | 8.24e-06 | 1 | 121356 | 0 | 0.47 | 0.107 | |
hrh2_human | 239 | 6.40x40 | TM6 | V => I | missense | 2.472e-05 | 3 | 121338 | 0 | 0.04 | 0.982 | GP (contact) |
hrh2_human | 253 | 6.54x54 | TM6 | A => T | missense | 1.648e-05 | 2 | 121374 | 0 | 0.09 | 0.011 | |
hrh2_human | 253 | 6.54x54 | TM6 | A => V | missense | 8.239e-06 | 1 | 121376 | 0 | 1.0 | 0.006 | |
hrh2_human | 257 | 6.58x58 | TM6 | R => C | missense | 8.238e-06 | 1 | 121390 | 0 | 0.11 | 0.993 | |
hrh2_human | 260 | 6.61x61 | TM6 | R => K | missense | 8.237e-06 | 1 | 121398 | 0 | 0.95 | 0.004 | |
hrh2_human | 266 | 7.31x30 | TM7 | N => S | missense | 0.003171 | 385 | 121402 | 3 | 0.59 | 0.068 | |
hrh2_human | 284 | 7.49x49 | TM7 | N => K | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.998 | SodiumPocket MicroSwitch |
hrh2_human | 286 | 7.51x51 | TM7 | I => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.899 | |
hrh2_human | 288 | 7.53x53 | TM7 | Y => C | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
hrh2_human | 290 | 7.55x55 | TM7 | A => V | missense | 8.237e-06 | 1 | 121406 | 0 | 0.07 | 0.221 | GP (contact) |
hrh2_human | 296 | 8.51x51 | H8 | R => H | missense | 8.238e-06 | 1 | 121394 | 0 | 0.0 | 0.999 | GP (contact) |
hrh2_human | 297 | 8.52x52 | H8 | T => A | missense | 8.238e-06 | 1 | 121394 | 0 | 0.53 | 0.016 | |
hrh2_human | 298 | 8.53x53 | H8 | G => R | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.251 | |
hrh2_human | 309 | C-term | N => S | missense | 1.648e-05 | 2 | 121394 | 0 | 0.82 | 0.0 | ||
hrh2_human | 310 | C-term | R => C | missense | 4.943e-05 | 6 | 121394 | 0 | 0.18 | 0.003 | ||
hrh2_human | 310 | C-term | R => H | missense | 2.471e-05 | 3 | 121394 | 0 | 0.58 | 0.001 | ||
hrh2_human | 311 | C-term | N => S | missense | 8.238e-06 | 1 | 121394 | 0 | 0.34 | 0.003 | ||
hrh2_human | 314 | C-term | K => R | missense | 8.238e-06 | 1 | 121392 | 0 | 0.53 | 0.001 | ||
hrh2_human | 315 | C-term | T => N | missense | 8.238e-06 | 1 | 121390 | 0 | 0.07 | 0.081 | ||
hrh2_human | 317 | C-term | L => R | missense | 8.239e-06 | 1 | 121378 | 0 | 0.19 | 0.048 | ||
hrh2_human | 317 | C-term | L => P | missense | 8.239e-06 | 1 | 121378 | 0 | 0.15 | 0.041 | ||
hrh2_human | 321 | C-term | A => T | missense | 5.768e-05 | 7 | 121356 | 0 | 0.57 | 0.003 | ||
hrh2_human | 326 | C-term | R => M | missense | 8.243e-06 | 1 | 121308 | 0 | 0.03 | 0.935 | ||
hrh2_human | 328 | C-term | Q => E | missense | 1.649e-05 | 2 | 121286 | 0 | 0.29 | 0.004 | ||
hrh2_human | 330 | C-term | R => Q | missense | 3.299e-05 | 4 | 121244 | 0 | 0.84 | 0.001 | ||
hrh2_human | 339 | C-term | P => H | missense | 8.265e-06 | 1 | 120998 | 0 | 0.04 | 0.838 | ||
hrh2_human | 341 | C-term | K => N | missense | 8.268e-06 | 1 | 120950 | 0 | 0.14 | 0.007 | ||
hrh2_human | 343 | C-term | Q => H | missense | 8.272e-06 | 1 | 120888 | 0 | 0.1 | 0.017 | ||
hrh2_human | 350 | C-term | V => I | missense | 8.31e-06 | 1 | 120344 | 0 | 0.2 | 0.003 | ||
hrh2_human | 351 | C-term | T => M | missense | 9.16e-05 | 11 | 120090 | 0 | 0.08 | 0.032 | ||
hrh2_human | 354 | C-term | Q => K | missense | 8.362e-06 | 1 | 119588 | 0 | 0.17 | 0.033 | ||
hrh2_human | 354 | C-term | Q => H | missense | 8.36e-06 | 1 | 119612 | 0 | 0.02 | 0.45 |
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