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 |
aa1r_human | 8 | 1.31x31 | TM1 | F => SerfsTer23 | frameshift | 8.701e-06 | 1 | 114930 | 0 | None | None | |
aa1r_human | 100 | 3.45x45 | TM3 | A => GlufsTer20 | frameshift | 8.274e-06 | 1 | 120854 | 0 | None | None | |
aa1r_human | 146 | ECL2 | W => Ter | stop gained | 8.925e-06 | 1 | 112046 | 0 | None | None | ||
aa1r_human | 178 | 5.36x38 | TM5 | E => Ter | stop gained | 8.327e-06 | 1 | 120096 | 0 | None | None | |
aa1r_human | 216 | ICL3 | S => Ter | stop gained | 8.254e-06 | 1 | 121158 | 0 | None | None | ||
aa1r_human | 265 | ECL3 | K => SerfsTer19 | frameshift | 8.341e-06 | 1 | 119894 | 0 | None | None | ||
aa1r_human | 323 | C-term | R => SerfsTer36 | frameshift | 9.097e-06 | 1 | 109926 | 0 | None | None | ||
aa1r_human | 3 | N-term | P => S | missense | 1.773e-05 | 2 | 112828 | 0 | nan | 0.002 | ||
aa1r_human | 11 | 1.34x34 | TM1 | A => S | missense | 8.547e-06 | 1 | 117004 | 0 | 0.36 | 0.209 | |
aa1r_human | 14 | 1.37x37 | TM1 | G => S | missense | 2.524e-05 | 3 | 118836 | 0 | 0.59 | 0.002 | |
aa1r_human | 31 | 1.54x54 | TM1 | I => M | missense | 8.245e-06 | 1 | 121282 | 0 | 0.02 | 0.936 | |
aa1r_human | 39 | 12.49x49 | ICL1 | A => V | missense | 0.000239 | 29 | 121342 | 0 | 0.01 | 0.442 | |
aa1r_human | 46 | 2.41x41 | TM2 | C => R | missense | 8.24e-06 | 1 | 121366 | 0 | 0.04 | 0.654 | |
aa1r_human | 46 | 2.41x41 | TM2 | C => Y | missense | 1.648e-05 | 2 | 121366 | 0 | 1.0 | 0.011 | |
aa1r_human | 53 | 2.48x48 | TM2 | V => M | missense | 0.0006426 | 78 | 121382 | 0 | 0.03 | 0.588 | |
aa1r_human | 65 | 2.60x59 | TM2 | L => F | missense | 8.238e-06 | 1 | 121388 | 0 | 0.2 | 0.991 | |
aa1r_human | 71 | 2.66x65 | TM2 | I => T | missense | 8.238e-06 | 1 | 121392 | 0 | 0.03 | 0.355 | |
aa1r_human | 72 | 2.67x66 | TM2 | G => E | missense | 8.238e-06 | 1 | 121390 | 0 | 0.06 | 0.988 | |
aa1r_human | 74 | 23.51x51 | ECL1 | Q => H | missense | 3.295e-05 | 4 | 121394 | 0 | 0.21 | 0.008 | |
aa1r_human | 79 | 3.24x24 | TM3 | T => A | missense | 8.238e-06 | 1 | 121392 | 0 | 0.14 | 0.411 | |
aa1r_human | 85 | 3.30x30 | TM3 | C => G | missense | 4.12e-05 | 5 | 121372 | 0 | 0.0 | 0.996 | |
aa1r_human | 86 | 3.31x31 | TM3 | P => L | missense | 8.24e-06 | 1 | 121366 | 0 | 1.0 | 0.009 | |
aa1r_human | 93 | 3.38x38 | TM3 | S => I | missense | 8.249e-06 | 1 | 121228 | 0 | 0.0 | 0.994 | |
aa1r_human | 100 | 3.45x45 | TM3 | A => V | missense | 8.278e-06 | 1 | 120806 | 0 | 0.0 | 1.0 | |
aa1r_human | 110 | 3.55x55 | TM3 | K => R | missense | 8.52e-06 | 1 | 117374 | 0 | 0.02 | 0.246 | GP (contact) |
aa1r_human | 113 | 34.51x51 | ICL2 | L => F | missense | 8.582e-06 | 1 | 116518 | 0 | 0.06 | 0.227 | GP (contact) |
aa1r_human | 117 | 34.55x55 | ICL2 | M => I | missense | 8.896e-06 | 1 | 112404 | 0 | 0.22 | 0.0 | GP (contact) |
aa1r_human | 118 | 34.56x56 | ICL2 | V => L | missense | 9.784e-05 | 11 | 112428 | 0 | 0.38 | 0.03 | GP (contact) |
aa1r_human | 118 | 34.56x56 | ICL2 | V => M | missense | 8.895e-06 | 1 | 112428 | 0 | 0.01 | 0.292 | GP (contact) |
aa1r_human | 122 | 4.40x40 | TM4 | R => W | missense | 8.998e-06 | 1 | 111130 | 0 | 0.0 | 0.883 | |
aa1r_human | 122 | 4.40x40 | TM4 | R => Q | missense | 8.983e-06 | 1 | 111326 | 0 | 0.06 | 0.02 | |
aa1r_human | 125 | 4.43x43 | TM4 | A => V | missense | 8.1e-05 | 9 | 111116 | 0 | 0.49 | 0.0 | |
aa1r_human | 130 | 4.48x48 | TM4 | G => S | missense | 1.796e-05 | 2 | 111350 | 0 | 0.02 | 0.313 | |
aa1r_human | 137 | 4.55x55 | TM4 | V => M | missense | 2.694e-05 | 3 | 111358 | 0 | 0.0 | 0.482 | |
aa1r_human | 137 | 4.55x55 | TM4 | V => L | missense | 8.98e-06 | 1 | 111358 | 0 | 1.0 | 0.006 | |
aa1r_human | 143 | 4.61x61 | TM4 | M => V | missense | 8.946e-06 | 1 | 111780 | 0 | 0.03 | 0.004 | |
aa1r_human | 143 | 4.61x61 | TM4 | M => I | missense | 8.944e-06 | 1 | 111806 | 0 | 0.01 | 0.029 | |
aa1r_human | 151 | ECL2 | A => V | missense | 6.226e-05 | 7 | 112426 | 0 | 0.21 | 0.002 | ||
aa1r_human | 152 | ECL2 | V => M | missense | 1.771e-05 | 2 | 112938 | 0 | 0.2 | 0.004 | ||
aa1r_human | 154 | ECL2 | R => W | missense | 8.842e-06 | 1 | 113094 | 0 | 0.01 | 0.512 | ||
aa1r_human | 154 | ECL2 | R => Q | missense | 3.526e-05 | 4 | 113458 | 0 | 0.47 | 0.001 | ||
aa1r_human | 156 | ECL2 | W => S | missense | 8.766e-06 | 1 | 114076 | 0 | 0.41 | 0.129 | ||
aa1r_human | 158 | ECL2 | A => S | missense | 6.986e-05 | 8 | 114508 | 0 | 0.8 | 0.056 | ||
aa1r_human | 159 | ECL2 | N => S | missense | 8.689e-06 | 1 | 115092 | 0 | 0.24 | 0.93 | ||
aa1r_human | 159 | ECL2 | N => K | missense | 8.686e-06 | 1 | 115122 | 0 | 0.27 | 0.988 | ||
aa1r_human | 160 | ECL2 | G => S | missense | 8.666e-06 | 1 | 115398 | 0 | 0.51 | 0.028 | ||
aa1r_human | 161 | ECL2 | S => T | missense | 6.042e-05 | 7 | 115850 | 0 | 0.49 | 0.037 | ||
aa1r_human | 161 | ECL2 | S => N | missense | 8.632e-06 | 1 | 115850 | 0 | 0.17 | 0.599 | ||
aa1r_human | 162 | ECL2 | M => V | missense | 3.443e-05 | 4 | 116182 | 0 | 0.51 | 0.0 | ||
aa1r_human | 163 | ECL2 | G => V | missense | 8.578e-06 | 1 | 116584 | 0 | 0.17 | 0.003 | ||
aa1r_human | 166 | ECL2 | V => M | missense | 0.000136 | 16 | 117660 | 1 | 0.2 | 0.019 | ||
aa1r_human | 166 | ECL2 | V => L | missense | 8.499e-06 | 1 | 117660 | 0 | 0.67 | 0.005 | ||
aa1r_human | 168 | ECL2 | K => T | missense | 1.688e-05 | 2 | 118496 | 0 | 0.62 | 0.001 | ||
aa1r_human | 168 | ECL2 | K => N | missense | 8.435e-06 | 1 | 118560 | 0 | 0.48 | 0.034 | ||
aa1r_human | 169 | 45.50x50 | ECL2 | C => Y | missense | 8.423e-06 | 1 | 118720 | 0 | 0.0 | 0.994 | |
aa1r_human | 170 | 45.51x51 | ECL2 | E => D | missense | 8.396e-06 | 1 | 119100 | 0 | 0.18 | 0.079 | |
aa1r_human | 173 | ECL2 | K => T | missense | 8.355e-06 | 1 | 119686 | 0 | 0.47 | 0.001 | ||
aa1r_human | 182 | 5.40x411 | TM5 | Y => C | missense | 8.314e-06 | 1 | 120286 | 0 | 0.0 | 1.0 | |
aa1r_human | 191 | 5.49x49 | TM5 | P => S | missense | 1.66e-05 | 2 | 120508 | 0 | 0.03 | 0.862 | |
aa1r_human | 192 | 5.50x50 | TM5 | P => Q | missense | 8.293e-06 | 1 | 120590 | 0 | 0.0 | 0.997 | SodiumPocket MicroSwitch |
aa1r_human | 197 | 5.55x55 | TM5 | V => A | missense | 1.656e-05 | 2 | 120794 | 0 | 0.14 | 0.003 | |
aa1r_human | 208 | 5.66x66 | TM5 | R => C | missense | 0.0001404 | 17 | 121078 | 0 | 0.06 | 0.071 | GP (contact) |
aa1r_human | 208 | 5.66x66 | TM5 | R => H | missense | 1.651e-05 | 2 | 121104 | 0 | 0.19 | 0.008 | GP (contact) |
aa1r_human | 212 | 5.70x70 | TM5 | N => S | missense | 0.001271 | 154 | 121168 | 0 | 1.0 | 0.005 | |
aa1r_human | 220 | ICL3 | G => S | missense | 1.651e-05 | 2 | 121158 | 0 | 0.59 | 0.003 | ||
aa1r_human | 221 | 6.22x22 | TM6 | D => N | missense | 2.476e-05 | 3 | 121152 | 0 | 0.28 | 0.986 | |
aa1r_human | 222 | 6.23x23 | TM6 | P => L | missense | 8.255e-06 | 1 | 121138 | 0 | 0.09 | 0.977 | |
aa1r_human | 234 | 6.35x35 | TM6 | K => Q | missense | 8.287e-06 | 1 | 120678 | 0 | 0.0 | 0.999 | |
aa1r_human | 235 | 6.36x36 | TM6 | S => L | missense | 2.488e-05 | 3 | 120568 | 0 | 0.0 | 1.0 | GP (contact) |
aa1r_human | 237 | 6.38x38 | TM6 | A => T | missense | 8.297e-06 | 1 | 120520 | 0 | 0.02 | 0.953 | |
aa1r_human | 252 | 6.53x53 | TM6 | I => T | missense | 8.349e-06 | 1 | 119770 | 0 | 0.09 | 0.057 | |
aa1r_human | 252 | 6.53x53 | TM6 | I => M | missense | 2.505e-05 | 3 | 119746 | 0 | 0.0 | 0.825 | |
aa1r_human | 256 | 6.57x57 | TM6 | I => V | missense | 8.35e-06 | 1 | 119754 | 0 | 0.48 | 0.015 | |
aa1r_human | 259 | 6.60x60 | TM6 | F => L | missense | 8.353e-06 | 1 | 119722 | 0 | 0.0 | 0.998 | |
aa1r_human | 261 | ECL3 | P => L | missense | 2.506e-05 | 3 | 119712 | 0 | 0.04 | 0.944 | ||
aa1r_human | 270 | 7.35x34 | TM7 | T => I | missense | 8.319e-06 | 1 | 120208 | 0 | 0.51 | 0.001 | |
aa1r_human | 279 | 7.44x43 | TM7 | G => S | missense | 8.292e-06 | 1 | 120592 | 0 | 0.1 | 0.993 | SodiumPocket MicroSwitch LB (polar (hydrogen bond with backbone), Van der Waals) |
aa1r_human | 282 | 7.47x47 | TM7 | A => S | missense | 8.292e-06 | 1 | 120602 | 0 | 0.01 | 0.994 | LB (Van der Waals) |
aa1r_human | 283 | 7.48x48 | TM7 | M => K | missense | 8.292e-06 | 1 | 120600 | 0 | 0.0 | 0.646 | LB (polar (hydrogen bond)) |
aa1r_human | 286 | 7.51x51 | TM7 | I => T | missense | 8.3e-06 | 1 | 120484 | 0 | 0.0 | 0.672 | |
aa1r_human | 291 | 7.56x56 | TM7 | R => H | missense | 8.338e-06 | 1 | 119928 | 0 | 0.0 | 0.465 | GP (contact) |
aa1r_human | 296 | 8.51x51 | H8 | R => H | missense | 1.685e-05 | 2 | 118678 | 0 | 0.03 | 0.033 | GP (contact) |
aa1r_human | 297 | 8.52x52 | H8 | V => I | missense | 8.442e-06 | 1 | 118462 | 0 | 0.38 | 0.003 | |
aa1r_human | 308 | 8.63x63 | H8 | R => C | missense | 1.75e-05 | 2 | 114286 | 0 | 0.23 | 0.001 | |
aa1r_human | 308 | 8.63x63 | H8 | R => H | missense | 2.627e-05 | 3 | 114194 | 0 | 0.07 | 0.315 | |
aa1r_human | 308 | 8.63x63 | H8 | R => L | missense | 8.757e-06 | 1 | 114194 | 0 | 1.0 | 0.002 | |
aa1r_human | 309 | 8.64x64 | H8 | C => Y | missense | 8.791e-06 | 1 | 113750 | 0 | 0.01 | 0.976 | PTM (Palmitoylation) |
aa1r_human | 312 | 8.67x67 | H8 | A => V | missense | 1.775e-05 | 2 | 112672 | 0 | 0.18 | 0.0 | |
aa1r_human | 315 | C-term | I => T | missense | 2.694e-05 | 3 | 111376 | 0 | 0.35 | 0.0 | ||
aa1r_human | 322 | C-term | E => D | missense | 7.278e-05 | 8 | 109926 | 0 | 0.49 | 0.001 |
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