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 |
agtr1_human | 56 | 1.60x60 | TM1 | Y => IlefsTer2 | frameshift | 1.649e-05 | 2 | 121322 | 0 | None | None | |
agtr1_human | 100 | 3.24x24 | TM3 | L => TyrfsTer35 | frameshift | 2.487e-05 | 3 | 120622 | 0 | None | None | |
agtr1_human | 113 | 3.37x37 | TM3 | Y => LeufsTer3 | frameshift | 1.663e-05 | 2 | 120248 | 0 | None | None | LB (hydrophobic, Van der Waals) |
agtr1_human | 114 | 3.38x38 | TM3 | A => LeufsTer21 | frameshift | 8.319e-06 | 1 | 120212 | 0 | None | None | |
agtr1_human | 126 | 3.50x50 | TM3 | R => Ter | stop gained | 1.667e-05 | 2 | 119974 | 0 | None | None | SodiumPocket MicroSwitch GP (contact) |
agtr1_human | 167 | 4.64x65 | TM4 | R => Ter | stop gained | 8.25e-06 | 1 | 121210 | 0 | None | None | LB (polar (charge-assisted hydrogen bond)) |
agtr1_human | 171 | ECL2 | F => HisfsTer2 | frameshift | 8.249e-06 | 1 | 121224 | 0 | None | None | ||
agtr1_human | 248 | 6.43x43 | TM6 | F => LeufsTer25 | frameshift | 2.492e-05 | 3 | 120376 | 0 | None | None | |
agtr1_human | 257 | 6.52x52 | TM6 | Q => Ter | stop gained | 8.287e-06 | 1 | 120676 | 0 | None | None | |
agtr1_human | 347 | C-term | S => Ter | stop gained | 8.287e-06 | 1 | 120666 | 0 | None | None | ||
agtr1_human | 2 | N-term | I => V | missense | 4.972e-05 | 6 | 120664 | 0 | nan | 0.0 | ||
agtr1_human | 2 | N-term | I => F | missense | 1.657e-05 | 2 | 120664 | 0 | nan | 0.024 | ||
agtr1_human | 2 | N-term | I => S | missense | 8.287e-06 | 1 | 120666 | 0 | nan | 0.0 | ||
agtr1_human | 4 | N-term | N => H | missense | 8.282e-06 | 1 | 120750 | 0 | 0.02 | 0.825 | ||
agtr1_human | 10 | N-term | G => V | missense | 4.96e-05 | 6 | 120974 | 0 | 0.26 | 0.034 | ||
agtr1_human | 11 | N-term | I => V | missense | 8.265e-06 | 1 | 120986 | 0 | 0.48 | 0.001 | ||
agtr1_human | 27 | 1.31x31 | TM1 | I => V | missense | 1.649e-05 | 2 | 121280 | 0 | 0.63 | 0.16 | |
agtr1_human | 28 | 1.32x32 | TM1 | F => L | missense | 8.245e-06 | 1 | 121288 | 0 | 0.07 | 0.038 | |
agtr1_human | 36 | 1.40x40 | TM1 | S => C | missense | 1.648e-05 | 2 | 121344 | 0 | 0.09 | 0.847 | |
agtr1_human | 36 | 1.40x40 | TM1 | S => N | missense | 1.648e-05 | 2 | 121346 | 0 | 0.03 | 0.372 | |
agtr1_human | 38 | 1.42x42 | TM1 | I => T | missense | 8.24e-06 | 1 | 121352 | 0 | 0.1 | 0.948 | |
agtr1_human | 49 | 1.53x53 | TM1 | V => L | missense | 8.241e-06 | 1 | 121350 | 0 | 0.0 | 0.974 | |
agtr1_human | 49 | 1.53x53 | TM1 | V => A | missense | 8.241e-06 | 1 | 121350 | 0 | 0.0 | 0.993 | |
agtr1_human | 52 | 1.56x56 | TM1 | V => G | missense | 7.417e-05 | 9 | 121338 | 0 | 0.0 | 0.824 | |
agtr1_human | 57 | 12.48x48 | ICL1 | M => T | missense | 2.473e-05 | 3 | 121322 | 0 | 0.26 | 0.886 | |
agtr1_human | 58 | 12.49x49 | ICL1 | K => T | missense | 8.243e-06 | 1 | 121320 | 0 | 0.07 | 0.998 | |
agtr1_human | 59 | 12.50x50 | ICL1 | L => P | missense | 1.649e-05 | 2 | 121302 | 0 | 0.14 | 0.904 | |
agtr1_human | 65 | 2.41x41 | TM2 | V => I | missense | 0.000363 | 44 | 121220 | 0 | 1.0 | 0.003 | |
agtr1_human | 77 | 2.53x53 | TM2 | F => C | missense | 8.262e-06 | 1 | 121030 | 0 | 0.23 | 1.0 | LB (hydrophobic, Van der Waals) |
agtr1_human | 85 | 2.61x61 | TM2 | A => T | missense | 8.266e-06 | 1 | 120982 | 0 | 0.0 | 1.0 | |
agtr1_human | 85 | 2.61x61 | TM2 | A => D | missense | 8.266e-06 | 1 | 120980 | 0 | 0.0 | 1.0 | |
agtr1_human | 86 | 2.62x62 | TM2 | V => L | missense | 8.266e-06 | 1 | 120984 | 0 | 0.07 | 0.174 | |
agtr1_human | 87 | 2.63x63 | TM2 | Y => C | missense | 8.266e-06 | 1 | 120984 | 0 | 0.01 | 0.956 | LB (Van der Waals, polar (hydrogen bond)) |
agtr1_human | 90 | 2.66x66 | TM2 | M => V | missense | 8.271e-06 | 1 | 120908 | 0 | 0.21 | 0.703 | |
agtr1_human | 93 | 23.49x49 | ECL1 | R => H | missense | 1.656e-05 | 2 | 120790 | 0 | 1.0 | 0.001 | |
agtr1_human | 101 | 3.25x25 | TM3 | C => R | missense | 8.292e-06 | 1 | 120604 | 0 | 0.0 | 1.0 | |
agtr1_human | 103 | 3.27x27 | TM3 | I => F | missense | 6.636e-05 | 8 | 120556 | 0 | 0.03 | 0.076 | |
agtr1_human | 103 | 3.27x27 | TM3 | I => T | missense | 0.0007549 | 91 | 120540 | 0 | 0.25 | 0.046 | |
agtr1_human | 108 | 3.32x32 | TM3 | V => I | missense | 2.492e-05 | 3 | 120380 | 0 | 0.59 | 0.005 | LB (hydrophobic, Van der Waals) |
agtr1_human | 109 | 3.33x33 | TM3 | S => R | missense | 8.307e-06 | 1 | 120384 | 0 | 0.06 | 0.894 | LB (Van der Waals, polar (hydrogen bond)) |
agtr1_human | 112 | 3.36x36 | TM3 | L => R | missense | 8.316e-06 | 1 | 120248 | 0 | 0.0 | 0.996 | LB (Van der Waals, hydrophobic) |
agtr1_human | 114 | 3.38x38 | TM3 | A => T | missense | 4.159e-05 | 5 | 120208 | 0 | 0.6 | 0.065 | |
agtr1_human | 115 | 3.39x39 | TM3 | S => T | missense | 0.0002828 | 34 | 120210 | 0 | 0.11 | 0.507 | |
agtr1_human | 120 | 3.44x44 | TM3 | T => M | missense | 1.666e-05 | 2 | 120070 | 0 | 0.02 | 0.903 | |
agtr1_human | 120 | 3.44x44 | TM3 | T => R | missense | 8.328e-06 | 1 | 120070 | 0 | 0.0 | 0.991 | |
agtr1_human | 126 | 3.50x50 | TM3 | R => Q | missense | 0.0001 | 12 | 119996 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
agtr1_human | 132 | 3.56x56 | TM3 | H => N | missense | 8.332e-06 | 1 | 120016 | 0 | 0.0 | 0.911 | GP (contact) |
agtr1_human | 134 | 34.51x51 | ICL2 | M => V | missense | 6.662e-05 | 8 | 120086 | 0 | 0.89 | 0.015 | GP (contact) |
agtr1_human | 136 | 34.53x53 | ICL2 | S => Y | missense | 8.324e-06 | 1 | 120128 | 0 | 0.0 | 0.954 | GP (contact) |
agtr1_human | 137 | 34.54x54 | ICL2 | R => H | missense | 1.665e-05 | 2 | 120152 | 0 | 0.03 | 0.999 | GP (contact) |
agtr1_human | 139 | 34.56x56 | ICL2 | R => Q | missense | 8.319e-06 | 1 | 120210 | 0 | 0.29 | 0.256 | GP (contact) |
agtr1_human | 140 | 34.57x57 | ICL2 | R => C | missense | 5.821e-05 | 7 | 120248 | 0 | 0.0 | 1.0 | GP (contact) |
agtr1_human | 140 | 34.57x57 | ICL2 | R => H | missense | 4.157e-05 | 5 | 120268 | 0 | 0.0 | 1.0 | GP (contact) |
agtr1_human | 143 | 4.40x40 | TM4 | L => I | missense | 3.321e-05 | 4 | 120440 | 0 | 0.52 | 0.026 | |
agtr1_human | 156 | 4.53x53 | TM4 | A => T | missense | 8.273e-06 | 1 | 120872 | 0 | 0.0 | 0.989 | |
agtr1_human | 163 | 4.60x61 | TM4 | A => T | missense | 0.0006688 | 81 | 121118 | 1 | 1.0 | 0.001 | LB (Van der Waals) |
agtr1_human | 167 | 4.64x65 | TM4 | R => Q | missense | 3.3e-05 | 4 | 121214 | 0 | 0.0 | 0.995 | LB (polar (charge-assisted hydrogen bond)) |
agtr1_human | 172 | ECL2 | I => T | missense | 1.65e-05 | 2 | 121216 | 0 | 0.02 | 0.345 | ||
agtr1_human | 176 | ECL2 | N => S | missense | 8.252e-06 | 1 | 121190 | 0 | 0.06 | 0.965 | ||
agtr1_human | 179 | ECL2 | V => L | missense | 1.651e-05 | 2 | 121166 | 0 | 0.13 | 0.153 | ||
agtr1_human | 184 | ECL2 | Y => H | missense | 1.652e-05 | 2 | 121090 | 0 | 0.47 | 0.465 | ||
agtr1_human | 185 | ECL2 | E => K | missense | 8.26e-06 | 1 | 121064 | 0 | 0.75 | 0.002 | ||
agtr1_human | 186 | ECL2 | S => P | missense | 8.261e-06 | 1 | 121048 | 0 | 0.15 | 0.15 | ||
agtr1_human | 188 | ECL2 | N => Y | missense | 5.786e-05 | 7 | 120992 | 0 | 0.34 | 0.074 | ||
agtr1_human | 189 | ECL2 | S => L | missense | 8.273e-06 | 1 | 120870 | 0 | 0.32 | 0.049 | ||
agtr1_human | 191 | 5.34x35 | TM5 | L => F | missense | 8.275e-06 | 1 | 120844 | 0 | 0.2 | 0.009 | |
agtr1_human | 192 | 5.35x36 | TM5 | P => L | missense | 4.972e-05 | 6 | 120672 | 0 | 0.75 | 0.0 | LB (hydrophobic, Van der Waals) |
agtr1_human | 197 | 5.40x41 | TM5 | L => Q | missense | 8.294e-06 | 1 | 120570 | 0 | 0.0 | 0.994 | |
agtr1_human | 208 | 5.51x51 | TM5 | F => L | missense | 3.322e-05 | 4 | 120426 | 0 | 0.74 | 0.204 | |
agtr1_human | 218 | 5.61x61 | TM5 | I => S | missense | 8.306e-06 | 1 | 120398 | 0 | 0.0 | 1.0 | GP (contact) |
agtr1_human | 221 | 5.64x64 | TM5 | A => D | missense | 8.306e-06 | 1 | 120400 | 0 | 0.15 | 0.292 | GP (contact) |
agtr1_human | 231 | ICL3 | N => T | missense | 8.308e-06 | 1 | 120370 | 0 | 0.13 | 0.046 | ||
agtr1_human | 233 | 6.28x28 | TM6 | P => T | missense | 5.816e-05 | 7 | 120348 | 0 | 0.58 | 0.001 | GP (contact) |
agtr1_human | 236 | 6.31x31 | TM6 | D => H | missense | 2.494e-05 | 3 | 120296 | 0 | 0.0 | 0.998 | |
agtr1_human | 236 | 6.31x31 | TM6 | D => A | missense | 8.311e-06 | 1 | 120320 | 0 | 0.0 | 0.996 | |
agtr1_human | 237 | 6.32x32 | TM6 | D => E | missense | 8.311e-06 | 1 | 120316 | 0 | 1.0 | 0.014 | GP (contact) |
agtr1_human | 240 | 6.35x35 | TM6 | K => N | missense | 8.31e-06 | 1 | 120330 | 0 | 0.04 | 0.075 | |
agtr1_human | 242 | 6.37x37 | TM6 | I => T | missense | 8.309e-06 | 1 | 120356 | 0 | 0.01 | 0.984 | GP (contact) |
agtr1_human | 243 | 6.38x38 | TM6 | M => I | missense | 8.308e-06 | 1 | 120366 | 0 | 0.74 | 0.001 | |
agtr1_human | 244 | 6.39x39 | TM6 | A => S | missense | 0.004055 | 488 | 120352 | 6 | 0.03 | 0.492 | |
agtr1_human | 245 | 6.40x40 | TM6 | I => V | missense | 7.476e-05 | 9 | 120392 | 0 | 1.0 | 0.03 | GP (contact) |
agtr1_human | 245 | 6.40x40 | TM6 | I => T | missense | 8.307e-06 | 1 | 120386 | 0 | 0.08 | 0.114 | GP (contact) |
agtr1_human | 246 | 6.41x41 | TM6 | V => L | missense | 8.308e-06 | 1 | 120372 | 0 | 0.0 | 0.987 | |
agtr1_human | 248 | 6.43x43 | TM6 | F => L | missense | 4.983e-05 | 6 | 120404 | 1 | 1.0 | 0.002 | |
agtr1_human | 248 | 6.43x43 | TM6 | F => C | missense | 8.305e-06 | 1 | 120408 | 0 | 0.07 | 0.421 | |
agtr1_human | 256 | 6.51x51 | TM6 | H => N | missense | 8.29e-06 | 1 | 120630 | 0 | 0.11 | 0.98 | LB (Van der Waals) |
agtr1_human | 258 | 6.53x53 | TM6 | I => T | missense | 8.28e-06 | 1 | 120778 | 0 | 0.01 | 0.608 | |
agtr1_human | 260 | 6.55x55 | TM6 | T => I | missense | 8.272e-06 | 1 | 120888 | 0 | 0.04 | 0.565 | |
agtr1_human | 263 | 6.58x58 | TM6 | D => G | missense | 8.264e-06 | 1 | 121012 | 0 | 0.01 | 0.915 | LB (polar (charge-assisted hydrogen bond)) |
agtr1_human | 269 | 6.64x64 | TM6 | G => S | missense | 1.651e-05 | 2 | 121146 | 0 | 0.66 | 0.033 | |
agtr1_human | 270 | ECL3 | I => V | missense | 8.253e-06 | 1 | 121166 | 0 | 1.0 | 0.001 | ||
agtr1_human | 272 | ECL3 | R => C | missense | 2.475e-05 | 3 | 121192 | 0 | 0.05 | 0.443 | ||
agtr1_human | 278 | 7.29x28 | TM7 | D => G | missense | 8.25e-06 | 1 | 121216 | 0 | 0.4 | 0.953 | |
agtr1_human | 283 | 7.34x33 | TM7 | A => T | missense | 8.25e-06 | 1 | 121218 | 0 | 0.06 | 0.926 | |
agtr1_human | 287 | 7.38x37 | TM7 | T => I | missense | 8.25e-06 | 1 | 121210 | 0 | 0.03 | 1.0 | |
agtr1_human | 288 | 7.39x38 | TM7 | I => V | missense | 8.25e-06 | 1 | 121210 | 0 | 0.0 | 0.779 | LB (hydrophobic, Van der Waals) |
agtr1_human | 288 | 7.39x38 | TM7 | I => M | missense | 8.25e-06 | 1 | 121208 | 0 | 0.0 | 0.998 | LB (hydrophobic, Van der Waals) |
agtr1_human | 289 | 7.40x39 | TM7 | C => Y | missense | 8.25e-06 | 1 | 121210 | 0 | 0.0 | 1.0 | PTM (S-nitrosylation) |
agtr1_human | 290 | 7.41x40 | TM7 | I => V | missense | 1.65e-05 | 2 | 121212 | 0 | 0.16 | 0.058 | |
agtr1_human | 292 | 7.43x42 | TM7 | Y => C | missense | 1.65e-05 | 2 | 121186 | 0 | 0.0 | 0.998 | LB (hydrophobic, Van der Waals) |
agtr1_human | 293 | 7.44x43 | TM7 | F => C | missense | 8.252e-06 | 1 | 121186 | 0 | 0.05 | 0.995 | SodiumPocket MicroSwitch |
agtr1_human | 298 | 7.49x49 | TM7 | N => S | missense | 4.953e-05 | 6 | 121138 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
agtr1_human | 302 | 7.53x53 | TM7 | Y => C | missense | 8.262e-06 | 1 | 121040 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch PTM (Phosphorylation) |
agtr1_human | 309 | 8.50x50 | H8 | F => I | missense | 8.286e-06 | 1 | 120688 | 0 | 0.0 | 0.548 | |
agtr1_human | 314 | 8.55x55 | H8 | L => R | missense | 7.477e-05 | 9 | 120376 | 0 | 0.34 | 0.962 | |
agtr1_human | 315 | 8.56x56 | H8 | Q => P | missense | 8.306e-06 | 1 | 120402 | 0 | 0.04 | 0.795 | |
agtr1_human | 318 | 8.59x59 | H8 | K => T | missense | 8.306e-06 | 1 | 120392 | 0 | 0.02 | 0.328 | |
agtr1_human | 318 | 8.59x59 | H8 | K => N | missense | 1.661e-05 | 2 | 120380 | 0 | 0.02 | 0.4 | |
agtr1_human | 325 | C-term | K => R | missense | 0.0001494 | 18 | 120506 | 0 | 1.0 | 0.0 | ||
agtr1_human | 327 | C-term | H => P | missense | 8.295e-06 | 1 | 120554 | 0 | 0.01 | 0.261 | ||
agtr1_human | 334 | C-term | M => I | missense | 5.804e-05 | 7 | 120604 | 0 | 0.17 | 0.002 | ||
agtr1_human | 336 | C-term | T => M | missense | 5.804e-05 | 7 | 120598 | 0 | 0.06 | 0.005 | PTM (Phosphorylation) | |
agtr1_human | 339 | C-term | Y => C | missense | 1.658e-05 | 2 | 120628 | 0 | 0.04 | 0.944 | ||
agtr1_human | 340 | C-term | R => C | missense | 8.29e-06 | 1 | 120626 | 0 | 0.04 | 0.013 | ||
agtr1_human | 340 | C-term | R => H | missense | 1.658e-05 | 2 | 120620 | 0 | 0.05 | 0.008 | ||
agtr1_human | 344 | C-term | N => Y | missense | 8.288e-06 | 1 | 120652 | 0 | 0.07 | 0.068 | ||
agtr1_human | 349 | C-term | T => I | missense | 9.944e-05 | 12 | 120678 | 0 | 0.13 | 0.0 | ||
agtr1_human | 350 | C-term | K => R | missense | 8.286e-06 | 1 | 120688 | 0 | 0.34 | 0.009 | ||
agtr1_human | 351 | C-term | K => M | missense | 8.285e-06 | 1 | 120694 | 0 | 0.06 | 0.868 | ||
agtr1_human | 352 | C-term | P => S | missense | 8.285e-06 | 1 | 120706 | 0 | 0.78 | 0.0 | ||
agtr1_human | 354 | C-term | P => L | missense | 8.284e-06 | 1 | 120718 | 0 | 0.79 | 0.0 | ||
agtr1_human | 356 | C-term | F => V | missense | 3.314e-05 | 4 | 120714 | 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