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 |
aa3r_human | 317 | C-term | S => GlyfsTer9 | frameshift | 0.0003229 | 39 | 120768 | 0 | None | None | ||
aa3r_human | 265 | 7.36x35 | TM7 | Y => Ter | stop gained | 8.322e-06 | 1 | 120166 | 0 | None | None | |
aa3r_human | 227 | 6.32x32 | TM6 | K => Ter | stop gained | 8.245e-06 | 1 | 121286 | 0 | None | None | GP (contact) |
aa3r_human | 199 | 5.60x60 | TM5 | D => SerfsTer13 | frameshift | 8.238e-06 | 1 | 121382 | 0 | None | None | |
aa3r_human | 174 | 5.35x37 | TM5 | M => Ter | frameshift | 8.239e-06 | 1 | 121374 | 0 | None | None | LB (hydrophobic, Van der Waals) |
aa3r_human | 161 | ECL2 | V => GlyfsTer34 | frameshift | 8.328e-06 | 1 | 120080 | 0 | None | None | ||
aa3r_human | 121 | 34.56x56 | ICL2 | V => LeufsTer12 | frameshift | 8.332e-06 | 1 | 120020 | 0 | None | None | GP (contact) |
aa3r_human | 175 | 5.36x38 | TM5 | D => ThrfsTer36 | frameshift | 8.237e-06 | 1 | 121404 | 0 | None | None | |
aa3r_human | 166 | 45.50x50 | ECL2 | C => Ter | stop gained | 8.237e-06 | 1 | 121410 | 0 | None | None | |
aa3r_human | 124 | 4.39x39 | TM4 | H => GlnfsTer75 | frameshift | 8.274e-06 | 1 | 120862 | 0 | None | None | |
aa3r_human | 108 | 3.50x50 | TM3 | R => Ter | stop gained | 2.492e-05 | 3 | 120368 | 0 | None | None | SodiumPocket MicroSwitch GP (contact) |
aa3r_human | 95 | 3.37x37 | TM3 | H => ArgfsTer64 | frameshift | 8.27e-06 | 1 | 120918 | 0 | None | None | LB (Van der Waals) |
aa3r_human | 81 | 3.23x23 | TM3 | Y => Ter | stop gained | 0.000124 | 15 | 120990 | 0 | None | None | |
aa3r_human | 20 | 1.40x40 | TM1 | I => Ter | stop gained | 1.657e-05 | 2 | 120670 | 0 | None | None | |
aa3r_human | 10 | 1.30x30 | TM1 | L => Ter | stop gained | 8.284e-06 | 1 | 120718 | 0 | None | None | |
aa3r_human | 316 | C-term | N => Y | missense | 2.478e-05 | 3 | 121052 | 0 | 0.03 | 0.054 | ||
aa3r_human | 315 | C-term | K => N | missense | 8.258e-06 | 1 | 121090 | 0 | 0.15 | 0.014 | ||
aa3r_human | 314 | C-term | E => G | missense | 8.252e-06 | 1 | 121182 | 0 | 0.14 | 0.033 | ||
aa3r_human | 311 | C-term | T => K | missense | 8.245e-06 | 1 | 121292 | 0 | 0.69 | 0.021 | ||
aa3r_human | 311 | C-term | T => A | missense | 8.244e-06 | 1 | 121300 | 0 | 0.57 | 0.008 | ||
aa3r_human | 309 | C-term | L => S | missense | 8.242e-06 | 1 | 121324 | 0 | 0.11 | 0.003 | ||
aa3r_human | 307 | 8.68x68 | H8 | D => Y | missense | 0.0001071 | 13 | 121344 | 1 | 0.01 | 0.429 | |
aa3r_human | 305 | 8.66x66 | H8 | P => L | missense | 9.063e-05 | 11 | 121368 | 0 | 0.19 | 0.002 | |
aa3r_human | 303 | 8.64x64 | H8 | C => F | missense | 8.239e-06 | 1 | 121376 | 0 | 0.02 | 0.838 | |
aa3r_human | 300 | 8.61x61 | H8 | C => S | missense | 8.238e-06 | 1 | 121384 | 0 | 0.21 | 0.013 | |
aa3r_human | 296 | 8.57x57 | H8 | I => N | missense | 8.239e-06 | 1 | 121372 | 0 | 0.0 | 0.99 | |
aa3r_human | 296 | 8.57x57 | H8 | I => V | missense | 8.239e-06 | 1 | 121370 | 0 | 0.03 | 0.685 | |
aa3r_human | 294 | 8.55x55 | H8 | L => F | missense | 1.648e-05 | 2 | 121360 | 0 | 0.59 | 0.005 | |
aa3r_human | 293 | 8.54x54 | H8 | Y => C | missense | 8.24e-06 | 1 | 121356 | 0 | 0.08 | 0.093 | |
aa3r_human | 293 | 8.54x54 | H8 | Y => H | missense | 1.648e-05 | 2 | 121360 | 0 | 0.0 | 0.94 | |
aa3r_human | 289 | 8.50x50 | H8 | F => L | missense | 1.648e-05 | 2 | 121356 | 0 | 0.0 | 0.967 | |
aa3r_human | 282 | 7.53x53 | TM7 | Y => C | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
aa3r_human | 281 | 7.52x52 | TM7 | V => G | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 0.962 | |
aa3r_human | 281 | 7.52x52 | TM7 | V => I | missense | 2.472e-05 | 3 | 121352 | 0 | 0.42 | 0.08 | |
aa3r_human | 273 | 7.44x43 | TM7 | A => V | missense | 8.241e-06 | 1 | 121348 | 0 | 0.18 | 0.531 | SodiumPocket MicroSwitch |
aa3r_human | 268 | 7.39x38 | TM7 | I => V | missense | 4.945e-05 | 6 | 121344 | 0 | 0.0 | 0.921 | LB (hydrophobic, Van der Waals) |
aa3r_human | 267 | 7.38x37 | TM7 | G => D | missense | 4.946e-05 | 6 | 121320 | 0 | 0.0 | 0.914 | |
aa3r_human | 266 | 7.37x36 | TM7 | M => K | missense | 0.0178 | 2160 | 121322 | 35 | 0.0 | 0.012 | |
aa3r_human | 259 | ECL3 | V => L | missense | 8.243e-06 | 1 | 121312 | 0 | 0.33 | 0.168 | ||
aa3r_human | 257 | ECL3 | G => S | missense | 8.244e-06 | 1 | 121306 | 0 | 0.79 | 0.014 | ||
aa3r_human | 254 | 6.59x59 | TM6 | Y => H | missense | 8.244e-06 | 1 | 121306 | 0 | 0.1 | 0.188 | |
aa3r_human | 251 | 6.56x56 | TM6 | C => G | missense | 0.0005276 | 64 | 121304 | 0 | 0.0 | 0.934 | |
aa3r_human | 250 | 6.55x55 | TM6 | N => S | missense | 9.068e-05 | 11 | 121300 | 0 | 0.01 | 0.913 | LB (polar (hydrogen bond), Van der Waals) |
aa3r_human | 249 | 6.54x54 | TM6 | I => V | missense | 8.244e-06 | 1 | 121304 | 0 | 0.03 | 0.021 | |
aa3r_human | 248 | 6.53x53 | TM6 | I => L | missense | 0.0947 | 11483 | 121256 | 707 | 0.0 | 0.9 | |
aa3r_human | 244 | 6.49x49 | TM6 | L => Q | missense | 8.245e-06 | 1 | 121282 | 0 | 0.0 | 0.998 | |
aa3r_human | 236 | 6.41x41 | TM6 | L => I | missense | 8.245e-06 | 1 | 121290 | 0 | 0.01 | 0.679 | |
aa3r_human | 232 | 6.37x37 | TM6 | L => F | missense | 8.245e-06 | 1 | 121290 | 0 | 0.0 | 0.951 | GP (contact) |
aa3r_human | 232 | 6.37x37 | TM6 | L => S | missense | 1.649e-05 | 2 | 121294 | 0 | 0.0 | 0.998 | GP (contact) |
aa3r_human | 231 | 6.36x36 | TM6 | S => F | missense | 8.245e-06 | 1 | 121288 | 0 | 0.0 | 0.979 | GP (contact) |
aa3r_human | 228 | 6.33x33 | TM6 | T => M | missense | 5.773e-05 | 7 | 121264 | 0 | 0.26 | 0.418 | GP (contact) |
aa3r_human | 224 | 6.29x29 | TM6 | R => Q | missense | 9.071e-05 | 11 | 121260 | 0 | 0.16 | 0.219 | GP (contact) |
aa3r_human | 224 | 6.29x29 | TM6 | R => W | missense | 3.299e-05 | 4 | 121264 | 0 | 0.0 | 0.132 | GP (contact) |
aa3r_human | 222 | 6.27x27 | TM6 | Y => H | missense | 8.246e-06 | 1 | 121274 | 0 | 0.06 | 0.984 | |
aa3r_human | 221 | 6.26x26 | TM6 | F => L | missense | 1.649e-05 | 2 | 121274 | 0 | 0.16 | 0.088 | GP (contact) |
aa3r_human | 216 | ICL3 | K => R | missense | 1.649e-05 | 2 | 121280 | 0 | 0.75 | 0.004 | ||
aa3r_human | 215 | ICL3 | S => C | missense | 8.246e-06 | 1 | 121272 | 0 | 0.19 | 0.287 | ||
aa3r_human | 212 | 5.73x73 | TM5 | L => S | missense | 8.245e-06 | 1 | 121286 | 0 | 0.53 | 0.007 | |
aa3r_human | 205 | 5.66x66 | TM5 | R => Q | missense | 2.473e-05 | 3 | 121306 | 0 | 0.07 | 0.903 | GP (contact) |
aa3r_human | 205 | 5.66x66 | TM5 | R => W | missense | 1.649e-05 | 2 | 121308 | 0 | 0.15 | 0.785 | GP (contact) |
aa3r_human | 197 | 5.58x58 | TM5 | Y => F | missense | 8.24e-06 | 1 | 121356 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
aa3r_human | 197 | 5.58x58 | TM5 | Y => H | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
aa3r_human | 195 | 5.56x56 | TM5 | A => D | missense | 8.24e-06 | 1 | 121364 | 0 | 0.01 | 0.873 | |
aa3r_human | 195 | 5.56x56 | TM5 | A => T | missense | 0.0004614 | 56 | 121364 | 0 | 0.1 | 0.124 | |
aa3r_human | 193 | 5.54x54 | TM5 | M => T | missense | 2.472e-05 | 3 | 121368 | 0 | 0.0 | 0.956 | |
aa3r_human | 191 | 5.52x52 | TM5 | V => I | missense | 4.944e-05 | 6 | 121370 | 0 | 0.19 | 0.012 | |
aa3r_human | 190 | 5.51x51 | TM5 | L => P | missense | 8.239e-06 | 1 | 121376 | 0 | 0.0 | 0.997 | |
aa3r_human | 189 | 5.50x50 | TM5 | P => H | missense | 8.239e-06 | 1 | 121374 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
aa3r_human | 186 | 5.47x47 | TM5 | I => V | missense | 8.238e-06 | 1 | 121384 | 0 | 1.0 | 0.07 | SodiumPocket MicroSwitch |
aa3r_human | 184 | 5.45x46 | TM5 | T => P | missense | 4.119e-05 | 5 | 121394 | 0 | 0.17 | 0.74 | |
aa3r_human | 181 | 5.42x43 | TM5 | S => G | missense | 1.648e-05 | 2 | 121396 | 0 | 0.16 | 0.316 | |
aa3r_human | 180 | 5.41x42 | TM5 | F => L | missense | 1.647e-05 | 2 | 121398 | 0 | 0.05 | 0.366 | |
aa3r_human | 179 | 5.40x411 | TM5 | Y => S | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.803 | |
aa3r_human | 178 | 5.39x41 | TM5 | V => I | missense | 8.237e-06 | 1 | 121398 | 0 | 0.03 | 0.968 | |
aa3r_human | 177 | 5.38x40 | TM5 | M => V | missense | 8.237e-06 | 1 | 121400 | 0 | 0.18 | 0.665 | LB (hydrophobic, Van der Waals) |
aa3r_human | 176 | 5.37x39 | TM5 | Y => C | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 1.0 | |
aa3r_human | 174 | 5.35x37 | TM5 | M => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.03 | 0.292 | LB (hydrophobic, Van der Waals) |
aa3r_human | 172 | ECL2 | M => I | missense | 8.237e-06 | 1 | 121404 | 0 | 0.63 | 0.009 | ||
aa3r_human | 172 | ECL2 | M => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.098 | ||
aa3r_human | 171 | ECL2 | V => I | missense | 0.0004201 | 51 | 121404 | 0 | 0.02 | 0.595 | ||
aa3r_human | 170 | ECL2 | S => F | missense | 1.647e-05 | 2 | 121408 | 0 | 0.0 | 0.099 | ||
aa3r_human | 164 | ECL2 | L => F | missense | 8.237e-06 | 1 | 121408 | 0 | 0.08 | 0.033 | ||
aa3r_human | 154 | ECL2 | T => I | missense | 8.237e-06 | 1 | 121410 | 0 | 0.25 | 0.009 | ||
aa3r_human | 146 | 4.61x61 | TM4 | M => I | missense | 1.647e-05 | 2 | 121410 | 0 | 0.01 | 0.141 | |
aa3r_human | 146 | 4.61x61 | TM4 | M => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.735 | |
aa3r_human | 146 | 4.61x61 | TM4 | M => K | missense | 3.295e-05 | 4 | 121410 | 0 | 0.0 | 0.821 | |
aa3r_human | 133 | 4.48x48 | TM4 | L => F | missense | 8.249e-06 | 1 | 121232 | 0 | 0.09 | 0.208 | |
aa3r_human | 131 | 4.46x46 | TM4 | L => P | missense | 8.267e-06 | 1 | 120966 | 0 | 0.0 | 0.986 | |
aa3r_human | 129 | 4.44x44 | TM4 | L => V | missense | 4.128e-05 | 5 | 121118 | 0 | 1.0 | 0.05 | |
aa3r_human | 122 | 34.57x57 | ICL2 | T => A | missense | 1.662e-05 | 2 | 120350 | 0 | 0.05 | 0.042 | GP (contact) |
aa3r_human | 120 | 34.55x55 | ICL2 | R => S | missense | 1.665e-05 | 2 | 120112 | 0 | 0.74 | 0.023 | GP (contact) |
aa3r_human | 116 | 34.51x51 | ICL2 | V => I | missense | 1.687e-05 | 2 | 118582 | 0 | nan | 0.02 | GP (contact) |
aa3r_human | 114 | 3.56x56 | TM3 | L => P | missense | 3.353e-05 | 4 | 119292 | 0 | nan | 0.999 | GP (contact) |
aa3r_human | 111 | 3.53x53 | TM3 | R => Q | missense | 8.349e-06 | 1 | 119770 | 0 | 0.01 | 0.999 | GP (contact) |
aa3r_human | 111 | 3.53x53 | TM3 | R => W | missense | 3.338e-05 | 4 | 119836 | 0 | 0.01 | 1.0 | GP (contact) |
aa3r_human | 108 | 3.50x50 | TM3 | R => Q | missense | 6.65e-05 | 8 | 120292 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch GP (contact) |
aa3r_human | 105 | 3.47x47 | TM3 | A => T | missense | 8.291e-06 | 1 | 120608 | 0 | nan | 0.908 | |
aa3r_human | 102 | 3.44x44 | TM3 | L => R | missense | 8.28e-06 | 1 | 120780 | 0 | nan | 1.0 | |
aa3r_human | 99 | 3.41x41 | TM3 | M => R | missense | 8.274e-06 | 1 | 120856 | 0 | nan | 0.952 | |
aa3r_human | 96 | 3.38x38 | TM3 | A => V | missense | 1.654e-05 | 2 | 120904 | 0 | 0.01 | 0.999 | |
aa3r_human | 96 | 3.38x38 | TM3 | A => G | missense | 8.271e-06 | 1 | 120904 | 0 | nan | 0.999 | |
aa3r_human | 96 | 3.38x38 | TM3 | A => T | missense | 2.481e-05 | 3 | 120908 | 0 | nan | 0.999 | |
aa3r_human | 90 | 3.32x32 | TM3 | L => V | missense | 0.004133 | 500 | 120978 | 11 | nan | 0.02 | |
aa3r_human | 84 | 3.26x26 | TM3 | L => H | missense | 1.653e-05 | 2 | 120996 | 0 | nan | 1.0 | |
aa3r_human | 77 | 23.51x51 | ECL1 | T => R | missense | 5.785e-05 | 7 | 120998 | 0 | nan | 0.014 | |
aa3r_human | 77 | 23.51x51 | ECL1 | T => I | missense | 1.653e-05 | 2 | 120998 | 0 | nan | 0.043 | |
aa3r_human | 69 | 2.61x60 | TM2 | A => D | missense | 8.26e-06 | 1 | 121072 | 0 | nan | 0.995 | |
aa3r_human | 67 | 2.59x58 | TM2 | P => H | missense | 8.258e-06 | 1 | 121098 | 0 | nan | 1.0 | |
aa3r_human | 66 | 2.58x57 | TM2 | M => L | missense | 8.258e-06 | 1 | 121102 | 0 | nan | 0.378 | |
aa3r_human | 64 | 2.56x551 | TM2 | L => P | missense | 1.651e-05 | 2 | 121108 | 0 | nan | 0.998 | |
aa3r_human | 61 | 2.53x53 | TM2 | V => A | missense | 8.258e-06 | 1 | 121100 | 0 | 0.0 | 0.996 | |
aa3r_human | 53 | 2.45x45 | TM2 | S => C | missense | 8.261e-06 | 1 | 121058 | 0 | 0.0 | 1.0 | |
aa3r_human | 51 | 2.43x43 | TM2 | I => S | missense | 1.653e-05 | 2 | 121022 | 0 | nan | 0.995 | |
aa3r_human | 49 | 2.41x41 | TM2 | Y => D | missense | 8.266e-06 | 1 | 120982 | 0 | nan | 0.993 | |
aa3r_human | 48 | 2.40x40 | TM2 | F => L | missense | 8.267e-06 | 1 | 120964 | 0 | nan | 0.348 | |
aa3r_human | 47 | 2.39x39 | TM2 | T => N | missense | 8.269e-06 | 1 | 120934 | 0 | nan | 0.999 | |
aa3r_human | 45 | 2.37x37 | TM2 | T => N | missense | 8.273e-06 | 1 | 120878 | 0 | nan | 0.026 | |
aa3r_human | 42 | 12.49x49 | ICL1 | S => N | missense | 8.282e-06 | 1 | 120742 | 0 | 0.05 | 0.924 | |
aa3r_human | 37 | 1.57x57 | TM1 | V => G | missense | 8.3e-06 | 1 | 120484 | 0 | nan | 0.979 | |
aa3r_human | 36 | 1.56x56 | TM1 | V => M | missense | 0.0001329 | 16 | 120374 | 0 | 0.0 | 0.903 | |
aa3r_human | 31 | 1.51x51 | TM1 | V => M | missense | 0.0002002 | 24 | 119852 | 0 | 0.05 | 0.149 | |
aa3r_human | 31 | 1.51x51 | TM1 | V => L | missense | 1.669e-05 | 2 | 119852 | 0 | 0.03 | 0.039 | |
aa3r_human | 27 | 1.47x47 | TM1 | I => L | missense | 8.399e-06 | 1 | 119058 | 0 | nan | 0.143 | |
aa3r_human | 22 | 1.42x42 | TM1 | I => T | missense | 8.48e-05 | 10 | 117926 | 0 | nan | 0.995 | |
aa3r_human | 18 | 1.38x38 | TM1 | M => V | missense | 8.621e-06 | 1 | 115998 | 0 | 0.55 | 0.001 | |
aa3r_human | 10 | 1.30x30 | TM1 | L => M | missense | 9.29e-06 | 1 | 107646 | 0 | nan | 0.046 | |
aa3r_human | 8 | N-term | L => V | missense | 9.604e-06 | 1 | 104122 | 0 | 0.24 | 0.004 | ||
aa3r_human | 7 | N-term | A => V | missense | 9.662e-06 | 1 | 103498 | 0 | nan | 0.047 | ||
aa3r_human | 6 | N-term | T => S | missense | 0.0001282 | 13 | 101426 | 0 | nan | 0.112 | ||
aa3r_human | 5 | N-term | S => R | missense | 1.01e-05 | 1 | 99050 | 0 | nan | 0.675 | ||
aa3r_human | 5 | N-term | S => C | missense | 1.018e-05 | 1 | 98238 | 0 | nan | 0.896 | ||
aa3r_human | 2 | N-term | P => L | missense | 1.102e-05 | 1 | 90722 | 0 | nan | 0.033 |
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