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 |
gnrhr_human | 325 | 7.55x55 | TM7 | Y => Ter | stop gained | 8.264e-06 | 1 | 121008 | 0 | None | None | GP (contact) |
gnrhr_human | 283 | 6.51x51 | TM6 | Y => Ter | stop gained | 8.238e-06 | 1 | 121396 | 0 | None | None | LB (polar (hydrogen bond)) |
gnrhr_human | 217 | 5.44x45 | TM5 | S => Ter | stop gained | 8.239e-06 | 1 | 121368 | 0 | None | None | |
gnrhr_human | 248 | ICL3 | E => ProfsTer47 | frameshift | 8.301e-06 | 1 | 120472 | 0 | None | None | ||
gnrhr_human | 205 | 5.32x33 | TM5 | W => Ter | stop gained | 2.489e-05 | 3 | 120536 | 0 | None | None | |
gnrhr_human | 74 | 12.51x51 | ICL1 | S => Ter | stop gained | 8.238e-06 | 1 | 121382 | 0 | None | None | |
gnrhr_human | 38 | 1.35x35 | TM1 | R => Ter | stop gained | 1.655e-05 | 2 | 120878 | 0 | None | None | |
gnrhr_human | 319 | 7.49x49 | TM7 | D => H | missense | 8.253e-06 | 1 | 121174 | 0 | 0.0 | 0.962 | SodiumPocket MicroSwitch |
gnrhr_human | 318 | 7.48x48 | TM7 | F => L | missense | 1.65e-05 | 2 | 121196 | 0 | 1.0 | 0.009 | |
gnrhr_human | 317 | 7.47x47 | TM7 | C => S | missense | 8.249e-06 | 1 | 121222 | 0 | 0.04 | 0.999 | |
gnrhr_human | 313 | 7.43x42 | TM7 | F => L | missense | 8.244e-06 | 1 | 121300 | 0 | 1.0 | 0.003 | |
gnrhr_human | 305 | 7.35x34 | TM7 | N => K | missense | 8.239e-06 | 1 | 121370 | 0 | 0.03 | 0.345 | LB (polar (hydrogen bond with backbone), Van der Waals) |
gnrhr_human | 305 | 7.35x34 | TM7 | N => Y | missense | 8.239e-06 | 1 | 121376 | 0 | 0.06 | 0.038 | LB (polar (hydrogen bond with backbone), Van der Waals) |
gnrhr_human | 296 | ECL3 | M => I | missense | 8.238e-06 | 1 | 121394 | 0 | 0.14 | 0.044 | ||
gnrhr_human | 287 | 6.55x55 | TM6 | G => E | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 1.0 | LB (Van der Waals) |
gnrhr_human | 284 | 6.52x52 | TM6 | Y => C | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.974 | LB (aromatic (edge-to-face), Van der Waals) |
gnrhr_human | 279 | 6.47x47 | TM6 | C => Y | missense | 7.414e-05 | 9 | 121398 | 0 | 0.0 | 1.0 | |
gnrhr_human | 269 | 6.37x37 | TM6 | T => M | missense | 1.648e-05 | 2 | 121392 | 0 | 0.0 | 0.999 | GP (contact) |
gnrhr_human | 268 | 6.36x36 | TM6 | M => T | missense | 2.471e-05 | 3 | 121396 | 0 | 0.0 | 0.997 | GP (contact) |
gnrhr_human | 266 | 6.34x34 | TM6 | L => R | missense | 8.238e-06 | 1 | 121394 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
gnrhr_human | 262 | 6.30x30 | TM6 | R => Q | missense | 0.002035 | 247 | 121380 | 1 | 0.0 | 0.924 | SodiumPocket MicroSwitch |
gnrhr_human | 251 | ICL3 | L => R | missense | 8.249e-06 | 1 | 121232 | 0 | 0.06 | 0.887 | ||
gnrhr_human | 250 | ICL3 | Q => P | missense | 8.253e-06 | 1 | 121174 | 0 | 0.3 | 0.012 | ||
gnrhr_human | 249 | ICL3 | L => R | missense | 8.254e-06 | 1 | 121152 | 0 | 0.21 | 0.114 | ||
gnrhr_human | 246 | 5.73x73 | TM5 | P => L | missense | 1.658e-05 | 2 | 120660 | 0 | 0.11 | 0.111 | |
gnrhr_human | 243 | 5.70x70 | TM5 | H => R | missense | 8.277e-06 | 1 | 120820 | 0 | 0.81 | 0.001 | |
gnrhr_human | 241 | 5.68x68 | TM5 | V => A | missense | 8.271e-06 | 1 | 120906 | 0 | 0.34 | 0.338 | GP (contact) |
gnrhr_human | 240 | 5.67x67 | TM5 | R => Q | missense | 0.0004382 | 53 | 120962 | 0 | 0.38 | 0.006 | GP (contact) |
gnrhr_human | 237 | 5.64x64 | TM5 | T => I | missense | 8.252e-06 | 1 | 121182 | 0 | 0.02 | 0.309 | GP (contact) |
gnrhr_human | 222 | 5.49x49 | TM5 | I => T | missense | 1.648e-05 | 2 | 121360 | 0 | 0.21 | 0.011 | |
gnrhr_human | 218 | 5.45x46 | TM5 | C => F | missense | 8.239e-06 | 1 | 121368 | 0 | 0.1 | 0.02 | |
gnrhr_human | 213 | 5.40x41 | TM5 | F => V | missense | 8.24e-06 | 1 | 121366 | 0 | 0.01 | 0.077 | |
gnrhr_human | 205 | 5.32x33 | TM5 | W => R | missense | 7.415e-05 | 9 | 121374 | 0 | 1.0 | 0.126 | |
gnrhr_human | 200 | ECL2 | C => Y | missense | 4.12e-05 | 5 | 121366 | 0 | 0.0 | 0.544 | ||
gnrhr_human | 191 | ECL2 | K => E | missense | 1.648e-05 | 2 | 121332 | 0 | 1.0 | 0.0 | ||
gnrhr_human | 188 | ECL2 | G => V | missense | 8.243e-06 | 1 | 121312 | 0 | 0.08 | 0.97 | ||
gnrhr_human | 188 | ECL2 | G => A | missense | 8.243e-06 | 1 | 121312 | 0 | 0.45 | 0.827 | ||
gnrhr_human | 187 | ECL2 | S => C | missense | 8.243e-06 | 1 | 121308 | 0 | 0.05 | 0.494 | ||
gnrhr_human | 174 | 4.60x61 | TM4 | Q => L | missense | 9.791e-06 | 1 | 102134 | 0 | 0.02 | 0.399 | |
gnrhr_human | 172 | 4.58x59 | TM4 | G => R | missense | 1.897e-05 | 2 | 105442 | 0 | 0.03 | 0.998 | |
gnrhr_human | 171 | 4.57x57 | TM4 | A => T | missense | 9.343e-06 | 1 | 107034 | 0 | 0.0 | 0.982 | |
gnrhr_human | 166 | 4.52x52 | TM4 | L => F | missense | 8.952e-06 | 1 | 111702 | 0 | 0.04 | 0.646 | |
gnrhr_human | 156 | 4.42x42 | TM4 | G => E | missense | 8.549e-06 | 1 | 116968 | 0 | 0.15 | 0.009 | |
gnrhr_human | 156 | 4.42x42 | TM4 | G => R | missense | 3.416e-05 | 4 | 117080 | 0 | 0.1 | 0.015 | |
gnrhr_human | 155 | 4.41x41 | TM4 | V => L | missense | 1.698e-05 | 2 | 117776 | 0 | 0.39 | 0.002 | |
gnrhr_human | 154 | 4.40x40 | TM4 | K => Q | missense | 2.537e-05 | 3 | 118234 | 0 | 0.13 | 0.055 | |
gnrhr_human | 154 | 4.40x40 | TM4 | K => E | missense | 4.229e-05 | 5 | 118234 | 0 | 0.02 | 0.307 | |
gnrhr_human | 153 | 4.39x39 | TM4 | S => R | missense | 8.432e-06 | 1 | 118602 | 0 | 0.7 | 0.008 | |
gnrhr_human | 152 | 4.38x38 | TM4 | N => S | missense | 5.893e-05 | 7 | 118782 | 0 | 0.15 | 0.004 | |
gnrhr_human | 151 | ICL2 | S => C | missense | 8.378e-06 | 1 | 119358 | 0 | 0.01 | 0.882 | ||
gnrhr_human | 146 | 34.50x50 | ICL2 | P => S | missense | 0.00132 | 159 | 120412 | 1 | 0.0 | 1.0 | GP (contact) |
gnrhr_human | 144 | 3.55x55 | TM3 | T => M | missense | 8.288e-06 | 1 | 120658 | 0 | 0.02 | 1.0 | GP (contact) |
gnrhr_human | 141 | 3.52x52 | TM3 | L => R | missense | 1.654e-05 | 2 | 120938 | 0 | 0.2 | 0.991 | |
gnrhr_human | 139 | 3.50x50 | TM3 | R => H | missense | 0.0001736 | 21 | 120978 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
gnrhr_human | 135 | 3.46x46 | TM3 | I => V | missense | 8.256e-06 | 1 | 121124 | 0 | 0.02 | 0.997 | |
gnrhr_human | 134 | 3.45x45 | TM3 | V => G | missense | 8.255e-06 | 1 | 121136 | 0 | 0.0 | 0.905 | |
gnrhr_human | 132 | 3.43x43 | TM3 | M => V | missense | 1.651e-05 | 2 | 121162 | 0 | 0.52 | 0.005 | |
gnrhr_human | 129 | 3.40x40 | TM3 | A => D | missense | 8.251e-06 | 1 | 121198 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
gnrhr_human | 129 | 3.40x40 | TM3 | A => G | missense | 8.251e-06 | 1 | 121198 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
gnrhr_human | 129 | 3.40x40 | TM3 | A => T | missense | 8.251e-06 | 1 | 121200 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
gnrhr_human | 127 | 3.38x38 | TM3 | A => V | missense | 0.0001238 | 15 | 121194 | 0 | 0.01 | 0.043 | |
gnrhr_human | 126 | 3.37x37 | TM3 | Y => C | missense | 8.25e-06 | 1 | 121212 | 0 | 0.0 | 1.0 | |
gnrhr_human | 125 | 3.36x36 | TM3 | M => V | missense | 8.25e-06 | 1 | 121212 | 0 | 0.0 | 0.994 | |
gnrhr_human | 116 | 3.27x27 | TM3 | V => A | missense | 8.245e-06 | 1 | 121280 | 0 | 0.14 | 0.076 | |
gnrhr_human | 113 | 3.24x24 | TM3 | L => V | missense | 8.245e-06 | 1 | 121284 | 0 | 0.25 | 0.999 | |
gnrhr_human | 113 | 3.24x24 | TM3 | L => F | missense | 8.245e-06 | 1 | 121284 | 0 | 0.05 | 1.0 | |
gnrhr_human | 108 | 23.51x51 | ECL1 | Y => C | missense | 8.243e-06 | 1 | 121320 | 0 | 0.01 | 0.979 | |
gnrhr_human | 106 | 23.49x49 | ECL1 | Q => R | missense | 0.002522 | 306 | 121330 | 0 | 0.0 | 0.974 | |
gnrhr_human | 105 | ECL1 | V => I | missense | 8.242e-06 | 1 | 121332 | 0 | 0.05 | 0.44 | ||
gnrhr_human | 96 | 2.59x58 | TM2 | P => S | missense | 8.24e-06 | 1 | 121366 | 0 | 0.0 | 1.0 | |
gnrhr_human | 94 | 2.57x56 | TM2 | V => A | missense | 0.0001401 | 17 | 121370 | 0 | 0.0 | 0.999 | |
gnrhr_human | 91 | 2.54x54 | TM2 | T => P | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 1.0 | |
gnrhr_human | 90 | 2.53x53 | TM2 | E => K | missense | 3.295e-05 | 4 | 121388 | 0 | 0.01 | 0.999 | |
gnrhr_human | 77 | 2.40x40 | TM2 | K => E | missense | 1.648e-05 | 2 | 121384 | 0 | 0.0 | 0.805 | |
gnrhr_human | 75 | 2.38x38 | TM2 | R => S | missense | 2.472e-05 | 3 | 121380 | 0 | 0.01 | 0.956 | |
gnrhr_human | 74 | 12.51x51 | ICL1 | S => P | missense | 2.471e-05 | 3 | 121384 | 0 | 0.04 | 0.185 | |
gnrhr_human | 70 | ICL1 | G => R | missense | 1.648e-05 | 2 | 121372 | 0 | 0.26 | 0.035 | ||
gnrhr_human | 69 | ICL1 | K => T | missense | 8.239e-06 | 1 | 121370 | 0 | 0.04 | 0.759 | ||
gnrhr_human | 68 | ICL1 | E => K | missense | 8.239e-06 | 1 | 121374 | 0 | 0.21 | 0.068 | ||
gnrhr_human | 63 | 1.60x60 | TM1 | W => C | missense | 2.473e-05 | 3 | 121330 | 0 | 0.0 | 0.819 | |
gnrhr_human | 63 | 1.60x60 | TM1 | W => L | missense | 1.649e-05 | 2 | 121322 | 0 | 0.03 | 0.197 | |
gnrhr_human | 62 | 1.59x59 | TM1 | K => N | missense | 1.649e-05 | 2 | 121322 | 0 | 0.06 | 0.024 | |
gnrhr_human | 54 | 1.51x51 | TM1 | A => T | missense | 8.252e-06 | 1 | 121190 | 0 | 0.12 | 0.025 | |
gnrhr_human | 51 | 1.48x48 | TM1 | T => I | missense | 8.252e-06 | 1 | 121178 | 0 | 0.44 | 0.007 | |
gnrhr_human | 50 | 1.47x47 | TM1 | A => V | missense | 5.778e-05 | 7 | 121152 | 0 | 0.04 | 0.044 | |
gnrhr_human | 46 | 1.43x43 | TM1 | F => S | missense | 8.258e-06 | 1 | 121100 | 0 | 0.0 | 0.999 | |
gnrhr_human | 45 | 1.42x42 | TM1 | L => F | missense | 8.258e-06 | 1 | 121100 | 0 | 0.05 | 1.0 | |
gnrhr_human | 43 | 1.40x40 | TM1 | F => L | missense | 8.262e-06 | 1 | 121040 | 0 | 0.11 | 0.891 | |
gnrhr_human | 40 | 1.37x37 | TM1 | T => M | missense | 2.48e-05 | 3 | 120950 | 0 | 0.08 | 0.22 | |
gnrhr_human | 34 | 1.31x31 | TM1 | S => P | missense | 8.276e-06 | 1 | 120836 | 0 | 0.0 | 0.999 | |
gnrhr_human | 33 | 1.30x30 | TM1 | L => S | missense | 8.276e-06 | 1 | 120832 | 0 | 0.11 | 0.8 | |
gnrhr_human | 30 | N-term | T => S | missense | 8.278e-06 | 1 | 120802 | 0 | 0.03 | 0.495 | ||
gnrhr_human | 27 | N-term | N => T | missense | 8.282e-06 | 1 | 120748 | 0 | 0.18 | 0.005 | ||
gnrhr_human | 26 | N-term | G => D | missense | 8.284e-06 | 1 | 120718 | 0 | 0.08 | 0.03 | ||
gnrhr_human | 25 | N-term | Q => R | missense | 8.285e-06 | 1 | 120696 | 0 | 0.09 | 0.197 | ||
gnrhr_human | 25 | N-term | Q => E | missense | 8.286e-06 | 1 | 120680 | 0 | 0.49 | 0.007 | ||
gnrhr_human | 25 | N-term | Q => K | missense | 8.286e-06 | 1 | 120680 | 0 | 0.18 | 0.023 | ||
gnrhr_human | 23 | N-term | L => V | missense | 8.291e-06 | 1 | 120610 | 0 | 0.27 | 0.024 | ||
gnrhr_human | 18 | N-term | N => S | missense | 0.0001495 | 18 | 120386 | 0 | 0.08 | 0.999 | ||
gnrhr_human | 11 | N-term | Q => K | missense | 0.0001751 | 21 | 119924 | 0 | 0.51 | 0.023 | ||
gnrhr_human | 10 | N-term | N => K | missense | 0.0001752 | 21 | 119892 | 0 | 0.15 | 0.037 | ||
gnrhr_human | 5 | N-term | A => V | missense | 8.373e-06 | 1 | 119426 | 0 | 0.12 | 0.024 | ||
gnrhr_human | 5 | N-term | A => T | missense | 8.375e-06 | 1 | 119396 | 0 | 0.18 | 0.043 | ||
gnrhr_human | 4 | N-term | S => R | missense | 8.377e-05 | 10 | 119374 | 0 | 0.14 | 0.017 | ||
gnrhr_human | 4 | N-term | S => N | missense | 8.377e-06 | 1 | 119378 | 0 | 0.31 | 0.006 | ||
gnrhr_human | 2 | N-term | A => T | missense | 8.392e-06 | 1 | 119162 | 0 | 0.01 | 0.53 |
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