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 |
ednrb_human | 404 | C-term | W => Ter | stop gained | 0.0001626 | 5 | 30744 | 0 | None | None | ||
ednrb_human | 401 | 8.58x58 | H8 | L => Ter | frameshift | 8.291e-06 | 1 | 120612 | 0 | None | None | |
ednrb_human | 391 | 8.48x48 | H8 | K => Ter | frameshift | 8.282e-06 | 1 | 120748 | 0 | None | None | GP (contact) |
ednrb_human | 383 | 7.50x50 | TM7 | P => IlefsTer3 | frameshift | 8.28e-06 | 1 | 120766 | 0 | None | None | SodiumPocket MicroSwitch |
ednrb_human | 291 | 5.56x56 | TM5 | F => Ter | stop gained | 8.279e-06 | 1 | 120786 | 0 | None | None | |
ednrb_human | 57 | N-term | G => Ter | stop gained | 0.000209 | 24 | 114810 | 0 | None | None | ||
ednrb_human | 50 | N-term | T => TrpfsTer38 | frameshift | 3.485e-05 | 4 | 114770 | 0 | None | None | ||
ednrb_human | 50 | N-term | T => LeufsTer25 | frameshift | 8.713e-06 | 1 | 114770 | 0 | None | None | ||
ednrb_human | 32 | N-term | P => Ter | stop gained | 3.524e-05 | 4 | 113506 | 0 | None | None | ||
ednrb_human | 16 | N-term | V => GlyfsTer60 | frameshift | 9.049e-06 | 1 | 110504 | 0 | None | None | ||
ednrb_human | 13 | N-term | V => ArgfsTer63 | frameshift | 9.162e-06 | 1 | 109146 | 0 | None | None | ||
ednrb_human | 6 | N-term | S => Ter | stop gained | 5.063e-05 | 5 | 98764 | 0 | None | None | ||
ednrb_human | 441 | C-term | S => L | missense | 8.638e-06 | 1 | 115768 | 0 | nan | 0.878 | PTM (Phosphorylation) | |
ednrb_human | 436 | C-term | S => T | missense | 8.485e-06 | 1 | 117854 | 0 | 0.15 | 0.249 | PTM (Phosphorylation) | |
ednrb_human | 436 | C-term | S => G | missense | 8.474e-06 | 1 | 118006 | 0 | 0.05 | 0.747 | PTM (Phosphorylation) | |
ednrb_human | 435 | C-term | S => Y | missense | 8.46e-06 | 1 | 118208 | 0 | 0.02 | 0.993 | PTM (Phosphorylation) | |
ednrb_human | 434 | C-term | R => H | missense | 1.689e-05 | 2 | 118392 | 0 | 0.04 | 0.052 | ||
ednrb_human | 434 | C-term | R => C | missense | 8.437e-06 | 1 | 118530 | 0 | 0.0 | 0.119 | ||
ednrb_human | 434 | C-term | R => S | missense | 1.687e-05 | 2 | 118530 | 0 | 0.1 | 0.236 | ||
ednrb_human | 430 | C-term | Y => H | missense | 8.388e-06 | 1 | 119222 | 0 | 0.22 | 0.702 | PTM (Phosphorylation) | |
ednrb_human | 429 | C-term | G => R | missense | 0.0001257 | 15 | 119360 | 0 | 0.01 | 0.956 | ||
ednrb_human | 427 | C-term | D => G | missense | 8.361e-06 | 1 | 119608 | 0 | 0.26 | 0.713 | ||
ednrb_human | 425 | C-term | A => P | missense | 8.347e-06 | 1 | 119804 | 0 | 0.09 | 0.905 | ||
ednrb_human | 422 | C-term | K => E | missense | 0.0002583 | 31 | 120008 | 0 | 0.02 | 0.776 | ||
ednrb_human | 419 | C-term | S => L | missense | 5.828e-05 | 7 | 120114 | 0 | 0.0 | 0.951 | PTM (Phosphorylation) | |
ednrb_human | 399 | 8.56x56 | H8 | S => T | missense | 2.502e-05 | 3 | 119884 | 1 | 0.03 | 0.033 | |
ednrb_human | 393 | 8.50x50 | H8 | F => L | missense | 8.321e-06 | 1 | 120178 | 0 | 0.01 | 0.987 | |
ednrb_human | 391 | 8.48x48 | H8 | K => R | missense | 6.649e-05 | 8 | 120324 | 0 | 0.17 | 0.274 | GP (contact) |
ednrb_human | 384 | 7.51x51 | TM7 | I => V | missense | 8.3e-05 | 10 | 120476 | 0 | 0.17 | 0.893 | |
ednrb_human | 380 | 7.47x47 | TM7 | C => S | missense | 8.304e-06 | 1 | 120420 | 0 | 0.0 | 0.888 | |
ednrb_human | 371 | 7.38x37 | TM7 | G => S | missense | 8.335e-06 | 1 | 119976 | 0 | 0.2 | 0.148 | |
ednrb_human | 364 | 7.31x30 | TM7 | L => V | missense | 8.392e-05 | 10 | 119168 | 0 | 0.0 | 0.193 | LB (hydrophobic, Van der Waals) |
ednrb_human | 348 | 6.60x60 | TM6 | T => S | missense | 8.276e-06 | 1 | 120828 | 0 | 0.04 | 0.511 | |
ednrb_human | 325 | 6.37x37 | TM6 | V => I | missense | 8.301e-06 | 1 | 120466 | 0 | 0.0 | 0.957 | GP (contact) |
ednrb_human | 319 | 6.31x31 | TM6 | R => L | missense | 8.329e-06 | 1 | 120060 | 0 | 0.01 | 0.878 | |
ednrb_human | 319 | 6.31x31 | TM6 | R => W | missense | 2.499e-05 | 3 | 120062 | 0 | 0.02 | 0.431 | |
ednrb_human | 308 | ICL3 | Q => K | missense | 1.657e-05 | 2 | 120704 | 0 | 0.32 | 0.377 | ||
ednrb_human | 305 | 5.70x70 | TM5 | S => N | missense | 0.008911 | 1076 | 120756 | 5 | 0.76 | 0.021 | PTM (Phosphorylation) |
ednrb_human | 304 | 5.69x69 | TM5 | K => I | missense | 8.281e-06 | 1 | 120758 | 0 | 0.01 | 0.929 | GP (contact) |
ednrb_human | 296 | 5.61x61 | TM5 | M => L | missense | 8.281e-06 | 1 | 120754 | 0 | 0.01 | 0.253 | GP (contact) |
ednrb_human | 294 | 5.59x59 | TM5 | T => I | missense | 8.282e-06 | 1 | 120746 | 0 | 0.0 | 0.673 | |
ednrb_human | 275 | 5.40x41 | TM5 | W => S | missense | 8.328e-06 | 1 | 120084 | 0 | 0.0 | 0.985 | |
ednrb_human | 274 | 5.39x40 | TM5 | D => V | missense | 8.342e-06 | 1 | 119882 | 0 | 0.07 | 0.934 | LB (polar (charge-assisted hydrogen bond)) |
ednrb_human | 274 | 5.39x40 | TM5 | D => Y | missense | 8.342e-06 | 1 | 119882 | 0 | 0.01 | 0.997 | LB (polar (charge-assisted hydrogen bond)) |
ednrb_human | 274 | 5.39x40 | TM5 | D => N | missense | 5.839e-05 | 7 | 119882 | 0 | 0.01 | 0.992 | LB (polar (charge-assisted hydrogen bond)) |
ednrb_human | 270 | 5.35x36 | TM5 | K => Q | missense | 8.376e-06 | 1 | 119390 | 0 | 0.3 | 0.111 | LB (Van der Waals, polar (charge-assisted hydrogen bond)) |
ednrb_human | 260 | ECL2 | V => F | missense | 0.0007518 | 91 | 121042 | 0 | 0.69 | 0.022 | ||
ednrb_human | 260 | ECL2 | V => I | missense | 0.0001652 | 20 | 121042 | 1 | 0.43 | 0.008 | ||
ednrb_human | 259 | ECL2 | P => S | missense | 8.26e-06 | 1 | 121066 | 0 | 0.07 | 0.969 | ||
ednrb_human | 258 | ECL2 | H => Q | missense | 1.652e-05 | 2 | 121078 | 0 | 0.31 | 0.022 | ||
ednrb_human | 258 | ECL2 | H => D | missense | 3.303e-05 | 4 | 121086 | 0 | 0.06 | 0.027 | ||
ednrb_human | 254 | ECL2 | I => T | missense | 8.256e-06 | 1 | 121128 | 0 | 0.68 | 0.02 | ||
ednrb_human | 254 | ECL2 | I => L | missense | 8.256e-06 | 1 | 121126 | 0 | 0.13 | 0.063 | ||
ednrb_human | 253 | ECL2 | R => Q | missense | 4.954e-05 | 6 | 121118 | 0 | 0.14 | 0.041 | ||
ednrb_human | 252 | ECL2 | L => P | missense | 8.254e-06 | 1 | 121150 | 0 | 0.01 | 0.979 | ||
ednrb_human | 250 | ECL2 | S => I | missense | 8.255e-06 | 1 | 121140 | 0 | 0.16 | 0.275 | ||
ednrb_human | 250 | ECL2 | S => G | missense | 8.253e-06 | 1 | 121168 | 0 | 0.28 | 0.022 | ||
ednrb_human | 249 | ECL2 | G => R | missense | 8.255e-06 | 1 | 121138 | 0 | 0.01 | 0.962 | ||
ednrb_human | 248 | ECL2 | K => T | missense | 1.65e-05 | 2 | 121178 | 0 | 0.2 | 0.358 | ||
ednrb_human | 247 | ECL2 | Y => C | missense | 1.65e-05 | 2 | 121190 | 0 | 0.0 | 0.917 | ||
ednrb_human | 246 | ECL2 | D => G | missense | 8.252e-06 | 1 | 121190 | 0 | 0.03 | 0.287 | ||
ednrb_human | 245 | ECL2 | M => I | missense | 8.252e-06 | 1 | 121176 | 0 | 0.32 | 0.003 | ||
ednrb_human | 244 | ECL2 | T => M | missense | 0.001048 | 127 | 121172 | 0 | 0.04 | 0.84 | ||
ednrb_human | 241 | ECL2 | D => A | missense | 1.65e-05 | 2 | 121182 | 0 | 0.01 | 0.356 | ||
ednrb_human | 241 | ECL2 | D => N | missense | 8.251e-06 | 1 | 121198 | 0 | 0.26 | 0.029 | ||
ednrb_human | 238 | 4.62x63 | TM4 | I => V | missense | 8.25e-06 | 1 | 121208 | 0 | 0.47 | 0.008 | |
ednrb_human | 225 | 4.49x49 | TM4 | I => T | missense | 8.248e-06 | 1 | 121236 | 0 | 0.0 | 0.997 | |
ednrb_human | 224 | 4.48x48 | TM4 | L => S | missense | 8.248e-06 | 1 | 121236 | 0 | 0.25 | 0.959 | |
ednrb_human | 211 | 34.55x55 | ICL2 | G => V | missense | 8.252e-06 | 1 | 121186 | 0 | 0.01 | 0.373 | GP (contact) |
ednrb_human | 207 | 34.51x51 | ICL2 | S => N | missense | 8.256e-06 | 1 | 121126 | 0 | 0.17 | 0.062 | GP (contact) |
ednrb_human | 203 | 3.54x54 | TM3 | V => L | missense | 8.264e-06 | 1 | 121014 | 0 | 0.0 | 0.756 | GP (contact) |
ednrb_human | 201 | 3.52x52 | TM3 | R => P | missense | 8.272e-06 | 1 | 120894 | 0 | 0.0 | 0.992 | |
ednrb_human | 201 | 3.52x52 | TM3 | R => Q | missense | 8.272e-06 | 1 | 120894 | 0 | 0.02 | 0.755 | |
ednrb_human | 194 | 3.45x45 | TM3 | A => V | missense | 3.31e-05 | 4 | 120864 | 0 | 0.02 | 0.986 | |
ednrb_human | 185 | 3.36x36 | TM3 | V => M | missense | 0.0001157 | 14 | 120976 | 0 | 0.0 | 0.989 | LB (hydrophobic, Van der Waals) |
ednrb_human | 180 | 3.31x31 | TM3 | I => M | missense | 2.484e-05 | 3 | 120758 | 0 | 0.0 | 0.81 | |
ednrb_human | 178 | 3.29x29 | TM3 | P => T | missense | 1.657e-05 | 2 | 120706 | 0 | 0.0 | 0.994 | LB (hydrophobic, Van der Waals) |
ednrb_human | 176 | 3.27x27 | TM3 | L => V | missense | 9.116e-05 | 11 | 120666 | 0 | 0.02 | 0.344 | |
ednrb_human | 172 | 3.23x23 | TM3 | E => D | missense | 8.292e-06 | 1 | 120594 | 0 | 0.2 | 0.065 | |
ednrb_human | 172 | 3.23x23 | TM3 | E => A | missense | 8.293e-06 | 1 | 120582 | 0 | 0.51 | 0.012 | |
ednrb_human | 157 | 2.60x59 | TM2 | I => V | missense | 1.648e-05 | 2 | 121388 | 0 | 0.13 | 0.051 | LB (hydrophobic, Van der Waals) |
ednrb_human | 154 | 2.57x56 | TM2 | D => G | missense | 8.237e-06 | 1 | 121402 | 0 | 0.44 | 0.014 | LB (Van der Waals, polar (charge-assisted hydrogen bond)) |
ednrb_human | 151 | 2.54x54 | TM2 | I => V | missense | 8.237e-06 | 1 | 121404 | 0 | 0.03 | 0.906 | |
ednrb_human | 141 | 2.44x44 | TM2 | A => S | missense | 8.237e-06 | 1 | 121402 | 0 | 0.1 | 0.733 | |
ednrb_human | 141 | 2.44x44 | TM2 | A => T | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.405 | |
ednrb_human | 139 | 2.42x42 | TM2 | L => F | missense | 8.237e-06 | 1 | 121406 | 0 | 0.09 | 0.456 | |
ednrb_human | 139 | 2.42x42 | TM2 | L => F | missense | 1.647e-05 | 2 | 121406 | 0 | 0.09 | 0.456 | |
ednrb_human | 139 | 2.42x42 | TM2 | L => V | missense | 8.237e-06 | 1 | 121406 | 0 | 0.01 | 0.775 | |
ednrb_human | 135 | 2.38x38 | TM2 | G => S | missense | 8.238e-06 | 1 | 121392 | 0 | 0.02 | 0.765 | |
ednrb_human | 130 | 12.48x48 | ICL1 | K => T | missense | 8.239e-06 | 1 | 121380 | 0 | 0.01 | 0.749 | |
ednrb_human | 124 | 1.55x55 | TM1 | R => K | missense | 8.24e-06 | 1 | 121362 | 0 | 0.1 | 0.083 | |
ednrb_human | 114 | 1.45x45 | TM1 | L => P | missense | 8.239e-06 | 1 | 121370 | 0 | 0.0 | 0.935 | |
ednrb_human | 113 | 1.44x44 | TM1 | V => M | missense | 8.239e-06 | 1 | 121368 | 0 | 0.04 | 0.921 | |
ednrb_human | 105 | 1.36x36 | TM1 | T => M | missense | 9.063e-05 | 11 | 121378 | 0 | 0.0 | 0.941 | |
ednrb_human | 104 | 1.35x35 | TM1 | N => I | missense | 3.295e-05 | 4 | 121384 | 0 | 0.0 | 0.343 | |
ednrb_human | 99 | 1.30x30 | TM1 | T => P | missense | 8.238e-06 | 1 | 121396 | 0 | 0.02 | 0.343 | |
ednrb_human | 95 | 1.26x26 | TM1 | E => V | missense | 8.238e-06 | 1 | 121394 | 0 | 0.02 | 0.36 | |
ednrb_human | 92 | 1.23x23 | TM1 | G => E | missense | 8.238e-06 | 1 | 121388 | 0 | 0.69 | 0.036 | |
ednrb_human | 88 | N-term | P => L | missense | 1.648e-05 | 2 | 121378 | 0 | 0.0 | 0.743 | ||
ednrb_human | 87 | N-term | P => S | missense | 8.24e-06 | 1 | 121362 | 0 | 0.01 | 0.26 | ||
ednrb_human | 84 | N-term | T => I | missense | 8.241e-06 | 1 | 121340 | 0 | 0.07 | 0.012 | ||
ednrb_human | 84 | N-term | T => N | missense | 8.241e-06 | 1 | 121340 | 0 | 0.24 | 0.007 | ||
ednrb_human | 83 | N-term | R => C | missense | 8.243e-06 | 1 | 121310 | 0 | 0.0 | 0.947 | ||
ednrb_human | 81 | N-term | P => L | missense | 8.247e-06 | 1 | 121256 | 0 | 0.16 | 0.012 | ||
ednrb_human | 76 | N-term | R => M | missense | 0.0001903 | 23 | 120862 | 0 | 0.01 | 0.712 | ||
ednrb_human | 72 | N-term | P => S | missense | 1.667e-05 | 2 | 119984 | 0 | 0.06 | 0.164 | ||
ednrb_human | 70 | N-term | E => K | missense | 5.018e-05 | 6 | 119566 | 0 | 0.33 | 0.005 | ||
ednrb_human | 64 | N-term | R => L | missense | 8.48e-06 | 1 | 117928 | 0 | 0.3 | 0.001 | PTM (Proteolytic Cleavage) | |
ednrb_human | 64 | N-term | R => P | missense | 3.392e-05 | 4 | 117928 | 0 | 0.29 | 0.001 | PTM (Proteolytic Cleavage) | |
ednrb_human | 64 | N-term | R => W | missense | 8.495e-06 | 1 | 117714 | 0 | 0.07 | 0.001 | PTM (Proteolytic Cleavage) | |
ednrb_human | 64 | N-term | R => G | missense | 8.495e-06 | 1 | 117714 | 0 | 0.36 | 0.001 | PTM (Proteolytic Cleavage) | |
ednrb_human | 60 | N-term | A => P | missense | 8.599e-06 | 1 | 116286 | 0 | 0.15 | 0.559 | ||
ednrb_human | 60 | N-term | A => T | missense | 1.72e-05 | 2 | 116286 | 0 | 0.15 | 0.006 | ||
ednrb_human | 57 | N-term | G => S | missense | 0.00652 | 753 | 115482 | 7 | 0.19 | 0.015 | ||
ednrb_human | 56 | N-term | K => T | missense | 3.467e-05 | 4 | 115360 | 0 | 0.15 | 0.002 | ||
ednrb_human | 55 | N-term | P => R | missense | 1.738e-05 | 2 | 115066 | 0 | 0.03 | 0.23 | ||
ednrb_human | 53 | N-term | L => S | missense | 8.739e-06 | 1 | 114432 | 0 | 0.69 | 0.002 | ||
ednrb_human | 44 | N-term | E => V | missense | 8.895e-06 | 1 | 112424 | 0 | 0.03 | 0.376 | ||
ednrb_human | 38 | N-term | P => L | missense | 8.943e-06 | 1 | 111822 | 0 | nan | 0.002 | ||
ednrb_human | 36 | N-term | A => D | missense | 8.962e-06 | 1 | 111586 | 0 | nan | 0.009 | ||
ednrb_human | 34 | N-term | D => E | missense | 6.273e-05 | 7 | 111586 | 0 | nan | 0.04 | ||
ednrb_human | 32 | N-term | P => S | missense | 1.794e-05 | 2 | 111508 | 0 | nan | 0.023 | ||
ednrb_human | 30 | N-term | G => D | missense | 8.973e-06 | 1 | 111450 | 0 | nan | 0.49 | ||
ednrb_human | 23 | N-term | R => W | missense | 1.794e-05 | 2 | 111486 | 0 | nan | 0.784 | ||
ednrb_human | 20 | N-term | G => S | missense | 1.792e-05 | 2 | 111632 | 0 | nan | 0.04 | ||
ednrb_human | 17 | N-term | L => F | missense | 0.001564 | 175 | 111860 | 0 | nan | 0.019 | ||
ednrb_human | 16 | N-term | V => F | missense | 1.791e-05 | 2 | 111664 | 0 | nan | 0.407 | ||
ednrb_human | 11 | N-term | A => V | missense | 8.971e-06 | 1 | 111466 | 0 | nan | 0.056 | ||
ednrb_human | 8 | N-term | C => G | missense | 9.042e-06 | 1 | 110598 | 0 | nan | 0.002 | ||
ednrb_human | 5 | N-term | P => T | missense | 4.573e-05 | 5 | 109330 | 0 | nan | 0.015 | ||
ednrb_human | 4 | N-term | P => A | missense | 9.229e-06 | 1 | 108356 | 0 | nan | 0.117 | ||
ednrb_human | 3 | N-term | P => L | missense | 2.771e-05 | 3 | 108246 | 0 | nan | 0.009 |
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