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 |
bkrb2_human | 329 | 7.50x50 | TM7 | P => HisfsTer5 | frameshift | 1.656e-05 | 2 | 120804 | 0 | None | None | SodiumPocket MicroSwitch |
bkrb2_human | 9 | N-term | M => V | missense | 8.238e-06 | 1 | 121388 | 0 | nan | 0.043 | ||
bkrb2_human | 14 | N-term | R => C | missense | 0.06891 | 8365 | 121384 | 408 | 0.03 | 0.835 | ||
bkrb2_human | 14 | N-term | R => L | missense | 8.238e-06 | 1 | 121390 | 0 | 0.33 | 0.433 | ||
bkrb2_human | 14 | N-term | R => H | missense | 2.471e-05 | 3 | 121390 | 0 | 0.08 | 0.715 | ||
bkrb2_human | 15 | N-term | E => K | missense | 8.238e-06 | 1 | 121388 | 0 | nan | 0.486 | ||
bkrb2_human | 15 | N-term | E => D | missense | 2.471e-05 | 3 | 121384 | 0 | nan | 0.388 | ||
bkrb2_human | 16 | N-term | D => A | missense | 0.0009557 | 116 | 121382 | 1 | nan | 0.728 | ||
bkrb2_human | 18 | N-term | V => M | missense | 8.239e-06 | 1 | 121374 | 0 | 0.13 | 0.791 | ||
bkrb2_human | 19 | N-term | P => H | missense | 8.24e-06 | 1 | 121360 | 0 | nan | 0.95 | ||
bkrb2_human | 21 | N-term | T => M | missense | 1.649e-05 | 2 | 121318 | 0 | 0.2 | 0.897 | ||
bkrb2_human | 25 | N-term | S => I | missense | 1.65e-05 | 2 | 121186 | 0 | nan | 0.216 | ||
bkrb2_human | 25 | N-term | S => R | missense | 9.232e-06 | 1 | 108322 | 0 | nan | 0.216 | ||
bkrb2_human | 26 | N-term | A => T | missense | 3.688e-05 | 4 | 108454 | 0 | nan | 0.002 | ||
bkrb2_human | 27 | N-term | D => N | missense | 2.761e-05 | 3 | 108660 | 0 | nan | 0.028 | ||
bkrb2_human | 27 | N-term | D => G | missense | 9.194e-06 | 1 | 108772 | 0 | nan | 0.001 | ||
bkrb2_human | 27 | N-term | D => E | missense | 9.191e-06 | 1 | 108808 | 0 | 1.0 | 0.001 | ||
bkrb2_human | 33 | N-term | L => F | missense | 9.162e-06 | 1 | 109148 | 0 | nan | 0.095 | ||
bkrb2_human | 34 | N-term | Q => R | missense | 9.159e-06 | 1 | 109188 | 0 | 0.1 | 0.118 | ||
bkrb2_human | 37 | N-term | T => I | missense | 9.147e-06 | 1 | 109322 | 0 | 0.07 | 0.031 | ||
bkrb2_human | 38 | N-term | L => P | missense | 9.146e-06 | 1 | 109340 | 0 | 0.02 | 0.01 | ||
bkrb2_human | 40 | N-term | G => R | missense | 0.000128 | 14 | 109368 | 0 | 0.23 | 0.01 | ||
bkrb2_human | 40 | N-term | G => E | missense | 9.143e-06 | 1 | 109374 | 0 | 0.47 | 0.004 | ||
bkrb2_human | 42 | N-term | F => V | missense | 2.743e-05 | 3 | 109366 | 0 | 0.56 | 0.001 | ||
bkrb2_human | 43 | N-term | A => S | missense | 9.143e-06 | 1 | 109378 | 0 | 1.0 | 0.001 | ||
bkrb2_human | 45 | N-term | S => R | missense | 9.145e-06 | 1 | 109354 | 0 | 0.28 | 0.002 | ||
bkrb2_human | 46 | N-term | K => N | missense | 1.828e-05 | 2 | 109408 | 0 | 0.44 | 0.002 | ||
bkrb2_human | 47 | N-term | C => Y | missense | 9.143e-06 | 1 | 109378 | 0 | 0.0 | 0.999 | ||
bkrb2_human | 48 | N-term | P => L | missense | 9.139e-06 | 1 | 109416 | 0 | 0.68 | 0.002 | ||
bkrb2_human | 50 | N-term | V => L | missense | 7.31e-05 | 8 | 109438 | 0 | 0.36 | 0.001 | ||
bkrb2_human | 61 | 1.36x36 | TM1 | P => L | missense | 9.097e-06 | 1 | 109928 | 0 | 0.01 | 0.33 | |
bkrb2_human | 62 | 1.37x37 | TM1 | P => L | missense | 9.09e-06 | 1 | 110012 | 0 | 0.11 | 0.275 | |
bkrb2_human | 65 | 1.40x40 | TM1 | W => S | missense | 9.078e-06 | 1 | 110162 | 0 | 0.2 | 0.999 | |
bkrb2_human | 69 | 1.44x44 | TM1 | V => L | missense | 9.058e-06 | 1 | 110398 | 0 | 0.22 | 0.011 | |
bkrb2_human | 77 | 1.52x52 | TM1 | F => L | missense | 9.033e-06 | 1 | 110704 | 0 | 0.07 | 0.923 | |
bkrb2_human | 77 | 1.52x52 | TM1 | F => S | missense | 0.0001084 | 12 | 110706 | 1 | 0.0 | 0.991 | |
bkrb2_human | 78 | 1.53x53 | TM1 | V => F | missense | 9.039e-06 | 1 | 110630 | 0 | 0.0 | 1.0 | |
bkrb2_human | 81 | 1.56x56 | TM1 | V => I | missense | 6.326e-05 | 7 | 110656 | 0 | 0.05 | 0.196 | |
bkrb2_human | 90 | 2.37x37 | TM2 | T => M | missense | 9.061e-06 | 1 | 110364 | 0 | 0.0 | 0.989 | |
bkrb2_human | 90 | 2.37x37 | TM2 | T => K | missense | 9.061e-06 | 1 | 110364 | 0 | 0.0 | 0.967 | |
bkrb2_human | 97 | 2.44x44 | TM2 | G => R | missense | 9.039e-06 | 1 | 110632 | 0 | 0.0 | 0.977 | |
bkrb2_human | 100 | 2.47x47 | TM2 | A => V | missense | 9.035e-06 | 1 | 110676 | 0 | 0.0 | 1.0 | |
bkrb2_human | 101 | 2.48x48 | TM2 | A => T | missense | 9.932e-05 | 11 | 110756 | 0 | 0.04 | 0.461 | |
bkrb2_human | 109 | 2.56x56 | TM2 | G => E | missense | 8.992e-06 | 1 | 111208 | 0 | 0.09 | 0.938 | |
bkrb2_human | 115 | 2.62x62 | TM2 | I => T | missense | 8.948e-06 | 1 | 111754 | 0 | 0.02 | 0.212 | |
bkrb2_human | 116 | 2.63x63 | TM2 | T => I | missense | 8.941e-06 | 1 | 111850 | 0 | 0.02 | 0.928 | |
bkrb2_human | 117 | 2.64x64 | TM2 | I => T | missense | 2.679e-05 | 3 | 111968 | 0 | 0.03 | 0.876 | |
bkrb2_human | 120 | 2.67x67 | TM2 | N => S | missense | 8.909e-06 | 1 | 112246 | 0 | 0.31 | 0.11 | |
bkrb2_human | 122 | 23.49x49 | ECL1 | D => N | missense | 3.559e-05 | 4 | 112400 | 0 | 0.48 | 0.036 | |
bkrb2_human | 123 | 23.50x50 | ECL1 | W => R | missense | 8.891e-06 | 1 | 112470 | 0 | 0.0 | 1.0 | |
bkrb2_human | 126 | 3.21x21 | TM3 | G => R | missense | 8.879e-06 | 1 | 112630 | 0 | 0.0 | 0.999 | |
bkrb2_human | 128 | 3.23x23 | TM3 | T => M | missense | 0.000355 | 40 | 112672 | 0 | 0.08 | 0.383 | |
bkrb2_human | 131 | 3.26x26 | TM3 | R => H | missense | 8.866e-06 | 1 | 112786 | 0 | 0.0 | 0.983 | |
bkrb2_human | 132 | 3.27x27 | TM3 | V => M | missense | 1.773e-05 | 2 | 112816 | 0 | 0.13 | 0.249 | |
bkrb2_human | 135 | 3.30x30 | TM3 | A => V | missense | 8.878e-06 | 1 | 112636 | 0 | 0.77 | 0.012 | |
bkrb2_human | 140 | 3.35x35 | TM3 | N => H | missense | 8.89e-06 | 1 | 112486 | 0 | 0.0 | 1.0 | |
bkrb2_human | 149 | 3.44x44 | TM3 | M => T | missense | 3.584e-05 | 4 | 111604 | 0 | 0.69 | 0.101 | |
bkrb2_human | 153 | 3.48x48 | TM3 | I => T | missense | 8.994e-06 | 1 | 111190 | 0 | 0.02 | 0.92 | |
bkrb2_human | 154 | 3.49x49 | TM3 | D => E | missense | 1.801e-05 | 2 | 111038 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
bkrb2_human | 158 | 3.53x53 | TM3 | A => V | missense | 9.02e-06 | 1 | 110864 | 0 | 0.04 | 1.0 | GP (contact) |
bkrb2_human | 167 | 34.55x55 | ICL2 | R => W | missense | 9.032e-06 | 1 | 110712 | 0 | 0.01 | 0.303 | GP (contact) |
bkrb2_human | 168 | 34.56x56 | ICL2 | M => I | missense | 9.034e-06 | 1 | 110698 | 0 | 0.06 | 0.582 | GP (contact) |
bkrb2_human | 169 | 34.57x57 | ICL2 | R => H | missense | 9.033e-06 | 1 | 110710 | 0 | 0.0 | 1.0 | GP (contact) |
bkrb2_human | 170 | 4.38x38 | TM4 | G => S | missense | 4.516e-05 | 5 | 110706 | 0 | 0.18 | 0.542 | |
bkrb2_human | 170 | 4.38x38 | TM4 | G => C | missense | 9.033e-06 | 1 | 110706 | 0 | 0.03 | 0.975 | |
bkrb2_human | 171 | 4.39x39 | TM4 | V => M | missense | 3.612e-05 | 4 | 110734 | 0 | 0.04 | 0.983 | |
bkrb2_human | 171 | 4.39x39 | TM4 | V => A | missense | 9.03e-06 | 1 | 110738 | 0 | 1.0 | 0.654 | |
bkrb2_human | 172 | 4.40x40 | TM4 | R => C | missense | 0.0003974 | 44 | 110716 | 0 | 0.19 | 0.091 | |
bkrb2_human | 172 | 4.40x40 | TM4 | R => H | missense | 8.128e-05 | 9 | 110724 | 0 | 0.55 | 0.04 | |
bkrb2_human | 182 | 4.50x50 | TM4 | W => C | missense | 8.996e-06 | 1 | 111162 | 0 | 0.0 | 1.0 | |
bkrb2_human | 185 | 4.53x53 | TM4 | T => M | missense | 8.984e-06 | 1 | 111304 | 0 | 0.0 | 0.912 | |
bkrb2_human | 194 | 4.62x63 | TM4 | V => M | missense | 8.936e-06 | 1 | 111904 | 0 | 0.25 | 0.065 | |
bkrb2_human | 203 | ECL2 | D => N | missense | 8.918e-06 | 1 | 112130 | 0 | 0.14 | 0.027 | ||
bkrb2_human | 206 | ECL2 | H => Y | missense | 8.912e-06 | 1 | 112210 | 0 | 1.0 | 0.005 | ||
bkrb2_human | 207 | ECL2 | N => K | missense | 4.453e-05 | 5 | 112278 | 0 | 0.02 | 0.941 | ||
bkrb2_human | 208 | ECL2 | V => I | missense | 8.011e-05 | 9 | 112346 | 0 | 0.63 | 0.322 | ||
bkrb2_human | 209 | ECL2 | T => N | missense | 0.0001156 | 13 | 112432 | 0 | 0.04 | 0.991 | ||
bkrb2_human | 209 | ECL2 | T => I | missense | 1.779e-05 | 2 | 112432 | 0 | 0.02 | 0.976 | ||
bkrb2_human | 210 | ECL2 | A => T | missense | 4.443e-05 | 5 | 112540 | 0 | 0.0 | 0.919 | ||
bkrb2_human | 214 | ECL2 | S => N | missense | 1.771e-05 | 2 | 112956 | 0 | 0.49 | 0.001 | ||
bkrb2_human | 215 | ECL2 | Y => C | missense | 8.84e-06 | 1 | 113124 | 0 | 0.0 | 0.999 | ||
bkrb2_human | 218 | 5.32x33 | TM5 | L => V | missense | 8.804e-06 | 1 | 113584 | 0 | 0.31 | 0.018 | |
bkrb2_human | 221 | 5.35x36 | TM5 | E => D | missense | 2.625e-05 | 3 | 114278 | 0 | 0.11 | 0.16 | LB (Van der Waals) |
bkrb2_human | 226 | 5.40x41 | TM5 | M => T | missense | 2.598e-05 | 3 | 115470 | 0 | 0.36 | 0.003 | |
bkrb2_human | 230 | 5.44x45 | TM5 | V => I | missense | 4.287e-05 | 5 | 116630 | 0 | 1.0 | 0.003 | |
bkrb2_human | 231 | 5.45x46 | TM5 | V => M | missense | 5.982e-05 | 7 | 117016 | 0 | 0.02 | 0.841 | |
bkrb2_human | 238 | 5.52x52 | TM5 | S => N | missense | 8.354e-06 | 1 | 119698 | 0 | 0.36 | 0.2 | |
bkrb2_human | 245 | 5.59x59 | TM5 | M => T | missense | 8.283e-06 | 1 | 120724 | 0 | 0.18 | 0.0 | |
bkrb2_human | 247 | 5.61x61 | TM5 | I => S | missense | 8.276e-06 | 1 | 120836 | 0 | 0.0 | 0.991 | GP (contact) |
bkrb2_human | 252 | 5.66x66 | TM5 | R => W | missense | 8.269e-06 | 1 | 120940 | 0 | 0.0 | 0.984 | GP (contact) |
bkrb2_human | 252 | 5.66x66 | TM5 | R => Q | missense | 2.48e-05 | 3 | 120982 | 0 | 0.23 | 0.236 | GP (contact) |
bkrb2_human | 255 | 5.69x69 | TM5 | E => K | missense | 3.304e-05 | 4 | 121054 | 0 | 0.27 | 0.477 | GP (contact) |
bkrb2_human | 262 | 6.27x27 | TM6 | I => F | missense | 8.258e-06 | 1 | 121100 | 0 | 0.04 | 0.736 | |
bkrb2_human | 264 | 6.29x29 | TM6 | T => I | missense | 3.304e-05 | 4 | 121080 | 0 | 0.0 | 0.973 | GP (contact) |
bkrb2_human | 269 | 6.34x34 | TM6 | T => S | missense | 8.301e-06 | 1 | 120466 | 0 | 0.1 | 0.444 | SodiumPocket MicroSwitch |
bkrb2_human | 269 | 6.34x34 | TM6 | T => M | missense | 8.306e-06 | 1 | 120396 | 0 | 0.01 | 0.679 | SodiumPocket MicroSwitch |
bkrb2_human | 270 | 6.35x35 | TM6 | V => M | missense | 8.307e-06 | 1 | 120382 | 0 | 0.36 | 0.016 | |
bkrb2_human | 271 | 6.36x36 | TM6 | L => V | missense | 4.158e-05 | 5 | 120264 | 0 | 0.0 | 0.999 | GP (contact) |
bkrb2_human | 288 | 6.53x53 | TM6 | I => V | missense | 0.0001591 | 19 | 119452 | 0 | 0.55 | 0.058 | |
bkrb2_human | 291 | 6.56x56 | TM6 | F => L | missense | 8.382e-06 | 1 | 119308 | 0 | 0.25 | 0.058 | |
bkrb2_human | 294 | 6.59x59 | TM6 | T => A | missense | 8.383e-06 | 1 | 119282 | 0 | 0.02 | 0.99 | |
bkrb2_human | 294 | 6.59x59 | TM6 | T => M | missense | 2.519e-05 | 3 | 119102 | 0 | 0.06 | 0.998 | |
bkrb2_human | 297 | 6.62x62 | TM6 | R => C | missense | 3.354e-05 | 4 | 119262 | 0 | 0.04 | 0.939 | LB (polar (charge-assisted hydrogen bond), Van der Waals) |
bkrb2_human | 299 | 6.64x64 | TM6 | G => S | missense | 3.348e-05 | 4 | 119488 | 0 | 0.5 | 0.002 | |
bkrb2_human | 299 | 6.64x64 | TM6 | G => R | missense | 8.369e-06 | 1 | 119488 | 0 | 0.42 | 0.004 | |
bkrb2_human | 304 | 7.25x24 | TM7 | C => G | missense | 8.336e-06 | 1 | 119960 | 0 | 0.0 | 1.0 | |
bkrb2_human | 306 | 7.27x26 | TM7 | D => N | missense | 3.33e-05 | 4 | 120116 | 0 | 0.31 | 0.01 | |
bkrb2_human | 307 | 7.28x27 | TM7 | E => K | missense | 2.497e-05 | 3 | 120166 | 0 | 0.23 | 0.046 | LB (polar (charge-assisted hydrogen bond), Van der Waals) |
bkrb2_human | 308 | 7.29x28 | TM7 | R => C | missense | 2.496e-05 | 3 | 120216 | 0 | 0.1 | 0.436 | |
bkrb2_human | 308 | 7.29x28 | TM7 | R => H | missense | 1.663e-05 | 2 | 120264 | 0 | 0.77 | 0.001 | |
bkrb2_human | 311 | 7.32x31 | TM7 | D => N | missense | 4.149e-05 | 5 | 120498 | 0 | 0.06 | 0.661 | LB (polar (charge-assisted hydrogen bond), Van der Waals) |
bkrb2_human | 311 | 7.32x31 | TM7 | D => Y | missense | 8.299e-06 | 1 | 120498 | 0 | 0.01 | 0.997 | LB (polar (charge-assisted hydrogen bond), Van der Waals) |
bkrb2_human | 316 | 7.37x36 | TM7 | I => T | missense | 4.141e-05 | 5 | 120732 | 0 | 0.0 | 0.826 | |
bkrb2_human | 317 | 7.38x37 | TM7 | A => T | missense | 8.282e-06 | 1 | 120742 | 0 | 0.22 | 0.3 | |
bkrb2_human | 320 | 7.41x40 | TM7 | M => T | missense | 8.278e-06 | 1 | 120802 | 0 | 0.02 | 0.08 | |
bkrb2_human | 320 | 7.41x40 | TM7 | M => K | missense | 8.278e-06 | 1 | 120802 | 0 | 0.01 | 0.167 | |
bkrb2_human | 326 | 7.47x47 | TM7 | C => G | missense | 2.483e-05 | 3 | 120812 | 0 | 0.07 | 0.065 | |
bkrb2_human | 329 | 7.50x50 | TM7 | P => R | missense | 8.281e-06 | 1 | 120762 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
bkrb2_human | 333 | 7.54x54 | TM7 | V => M | missense | 0.0001242 | 15 | 120782 | 0 | 0.0 | 0.939 | |
bkrb2_human | 335 | 7.56x56 | TM7 | V => M | missense | 0.0002235 | 27 | 120786 | 0 | 0.0 | 0.999 | GP (contact) |
bkrb2_human | 337 | 8.48x48 | H8 | K => R | missense | 0.001672 | 202 | 120788 | 1 | 0.07 | 0.267 | GP (contact) |
bkrb2_human | 338 | 8.49x49 | H8 | R => C | missense | 2.484e-05 | 3 | 120760 | 0 | 0.01 | 0.794 | GP (contact) |
bkrb2_human | 338 | 8.49x49 | H8 | R => H | missense | 2.483e-05 | 3 | 120802 | 1 | 1.0 | 0.006 | GP (contact) |
bkrb2_human | 340 | 8.51x51 | H8 | R => Q | missense | 4.139e-05 | 5 | 120804 | 0 | 0.3 | 0.041 | GP (contact) |
bkrb2_human | 344 | 8.55x55 | H8 | W => R | missense | 8.278e-06 | 1 | 120800 | 0 | 0.97 | 0.0 | |
bkrb2_human | 349 | C-term | G => R | missense | 5.801e-05 | 7 | 120672 | 0 | 0.68 | 0.004 | ||
bkrb2_human | 349 | C-term | G => A | missense | 0.0001078 | 13 | 120620 | 0 | 0.79 | 0.004 | ||
bkrb2_human | 350 | C-term | V => M | missense | 8.29e-06 | 1 | 120622 | 0 | 0.14 | 0.005 | ||
bkrb2_human | 350 | C-term | V => G | missense | 7.461e-05 | 9 | 120620 | 0 | 0.05 | 0.035 | ||
bkrb2_human | 354 | C-term | G => E | missense | 0.00592 | 712 | 120266 | 19 | 1.0 | 0.008 | ||
bkrb2_human | 360 | C-term | P => L | missense | 1.679e-05 | 2 | 119086 | 0 | 0.07 | 0.478 | ||
bkrb2_human | 368 | C-term | G => V | missense | 8.65e-06 | 1 | 115602 | 0 | 0.01 | 0.901 | ||
bkrb2_human | 371 | C-term | R => G | missense | 8.742e-06 | 1 | 114384 | 0 | 0.0 | 0.838 | ||
bkrb2_human | 371 | C-term | R => W | missense | 1.748e-05 | 2 | 114384 | 0 | 0.0 | 0.989 | ||
bkrb2_human | 371 | C-term | R => Q | missense | 6.991e-05 | 8 | 114434 | 0 | 0.02 | 0.758 | ||
bkrb2_human | 372 | C-term | T => A | missense | 6.127e-05 | 7 | 114240 | 0 | 0.0 | 0.963 | ||
bkrb2_human | 374 | C-term | I => N | missense | 8.825e-06 | 1 | 113314 | 0 | 0.0 | 0.815 | ||
bkrb2_human | 376 | C-term | V => M | missense | 0.0007484 | 84 | 112232 | 0 | 0.19 | 0.033 | ||
bkrb2_human | 378 | C-term | R => C | missense | 8.971e-06 | 1 | 111468 | 0 | 0.04 | 0.871 | ||
bkrb2_human | 378 | C-term | R => H | missense | 1.797e-05 | 2 | 111280 | 0 | 0.25 | 0.018 | ||
bkrb2_human | 383 | C-term | L => Q | missense | 1.818e-05 | 2 | 110038 | 0 | nan | 0.779 | ||
bkrb2_human | 385 | C-term | D => H | missense | 0.0002746 | 30 | 109246 | 0 | nan | 0.365 | ||
bkrb2_human | 386 | C-term | W => C | missense | 5.516e-05 | 6 | 108766 | 0 | nan | 0.635 | ||
bkrb2_human | 390 | C-term | R => K | missense | 9.271e-06 | 1 | 107866 | 0 | nan | 0.002 |
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