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 |
ednra_human | 251 | 5.34x35 | TM5 | Y => SerfsTer30 | frameshift | 8.238e-06 | 1 | 121394 | 0 | None | None | |
ednra_human | 420 | C-term | S => AlafsTer7 | frameshift | 8.271e-06 | 1 | 120900 | 0 | None | None | PTM (Phosphorylation) | |
ednra_human | 3 | N-term | T => I | missense | 8.826e-06 | 1 | 113302 | 0 | nan | 0.51 | ||
ednra_human | 4 | N-term | L => V | missense | 1.759e-05 | 2 | 113724 | 0 | nan | 0.234 | ||
ednra_human | 9 | N-term | S => Y | missense | 8.609e-06 | 1 | 116158 | 0 | nan | 0.067 | ||
ednra_human | 16 | N-term | G => E | missense | 8.393e-06 | 1 | 119142 | 0 | nan | 1.0 | ||
ednra_human | 20 | N-term | S => I | missense | 8.32e-06 | 1 | 120198 | 0 | nan | 0.865 | ||
ednra_human | 28 | N-term | T => R | missense | 2.474e-05 | 3 | 121252 | 0 | nan | 0.907 | ||
ednra_human | 33 | N-term | H => R | missense | 8.242e-06 | 1 | 121328 | 0 | nan | 0.005 | ||
ednra_human | 38 | N-term | T => I | missense | 8.24e-06 | 1 | 121362 | 0 | 0.02 | 0.892 | ||
ednra_human | 41 | N-term | R => C | missense | 2.472e-05 | 3 | 121364 | 0 | nan | 0.764 | ||
ednra_human | 41 | N-term | R => H | missense | 4.944e-05 | 6 | 121368 | 0 | nan | 0.002 | ||
ednra_human | 46 | N-term | S => R | missense | 8.238e-06 | 1 | 121382 | 0 | nan | 0.087 | ||
ednra_human | 49 | N-term | V => I | missense | 8.238e-06 | 1 | 121388 | 0 | nan | 0.966 | ||
ednra_human | 52 | N-term | H => R | missense | 8.238e-06 | 1 | 121388 | 0 | 0.56 | 0.976 | ||
ednra_human | 58 | N-term | V => I | missense | 8.238e-06 | 1 | 121386 | 0 | nan | 0.167 | ||
ednra_human | 60 | N-term | P => S | missense | 8.238e-06 | 1 | 121388 | 0 | 0.15 | 0.996 | ||
ednra_human | 60 | N-term | P => H | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 0.999 | ||
ednra_human | 65 | N-term | M => V | missense | 8.237e-06 | 1 | 121398 | 0 | nan | 0.002 | ||
ednra_human | 70 | 1.22x22 | TM1 | P => L | missense | 8.237e-06 | 1 | 121406 | 0 | 0.36 | 0.997 | |
ednra_human | 86 | 1.38x38 | TM1 | I => V | missense | 0.00196 | 238 | 121412 | 2 | 0.8 | 0.902 | |
ednra_human | 86 | 1.38x38 | TM1 | I => L | missense | 4.118e-05 | 5 | 121412 | 0 | 0.47 | 0.902 | |
ednra_human | 86 | 1.38x38 | TM1 | I => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.993 | |
ednra_human | 92 | 1.44x44 | TM1 | I => V | missense | 8.237e-06 | 1 | 121410 | 0 | 0.27 | 0.902 | |
ednra_human | 94 | 1.46x46 | TM1 | G => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
ednra_human | 96 | 1.48x48 | TM1 | V => M | missense | 4.118e-05 | 5 | 121412 | 0 | 0.0 | 0.997 | |
ednra_human | 103 | 1.55x55 | TM1 | R => M | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 0.999 | |
ednra_human | 108 | 1.60x60 | TM1 | N => K | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.999 | |
ednra_human | 117 | 2.41x41 | TM2 | A => T | missense | 1.65e-05 | 2 | 121220 | 0 | 0.09 | 0.999 | |
ednra_human | 117 | 2.41x41 | TM2 | A => V | missense | 3.3e-05 | 4 | 121206 | 0 | 0.24 | 0.999 | |
ednra_human | 145 | 23.49x49 | ECL1 | R => C | missense | 8.242e-06 | 1 | 121324 | 0 | 0.01 | 0.857 | LB (Van der Waals) |
ednra_human | 145 | 23.49x49 | ECL1 | R => H | missense | 3.297e-05 | 4 | 121322 | 0 | 0.11 | 0.016 | LB (Van der Waals) |
ednra_human | 150 | ECL1 | H => Y | missense | 8.239e-06 | 1 | 121378 | 0 | 0.79 | 0.005 | ||
ednra_human | 155 | 3.22x22 | TM3 | V => I | missense | 3.295e-05 | 4 | 121390 | 0 | 0.09 | 0.006 | |
ednra_human | 178 | 3.45x45 | TM3 | A => T | missense | 1.649e-05 | 2 | 121312 | 0 | 0.0 | 0.999 | |
ednra_human | 209 | 4.49x49 | TM4 | I => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.08 | 0.309 | |
ednra_human | 220 | 4.60x61 | TM4 | E => K | missense | 8.237e-06 | 1 | 121404 | 0 | 0.01 | 0.986 | |
ednra_human | 222 | 4.62x63 | TM4 | I => V | missense | 8.237e-06 | 1 | 121400 | 0 | 0.63 | 0.037 | |
ednra_human | 225 | ECL2 | V => I | missense | 1.648e-05 | 2 | 121394 | 0 | 0.01 | 0.265 | ||
ednra_human | 233 | ECL2 | G => D | missense | 8.242e-06 | 1 | 121334 | 0 | 0.21 | 0.023 | ||
ednra_human | 243 | ECL2 | A => P | missense | 8.254e-06 | 1 | 121152 | 0 | 1.0 | 0.004 | ||
ednra_human | 248 | 5.31x32 | TM5 | M => V | missense | 3.306e-05 | 4 | 120990 | 0 | 0.03 | 0.068 | |
ednra_human | 250 | 5.33x34 | TM5 | F => Y | missense | 8.238e-06 | 1 | 121396 | 0 | 0.04 | 0.352 | |
ednra_human | 259 | 5.42x43 | TM5 | L => F | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.656 | LB (hydrophobic, Van der Waals) |
ednra_human | 287 | 5.70x70 | TM5 | N => D | missense | 8.237e-06 | 1 | 121402 | 0 | 0.07 | 0.077 | |
ednra_human | 290 | ICL3 | L => W | missense | 4.942e-05 | 6 | 121398 | 0 | 0.0 | 1.0 | ||
ednra_human | 297 | 6.26x26 | TM6 | H => R | missense | 2.472e-05 | 3 | 121378 | 0 | 0.05 | 0.919 | GP (contact) |
ednra_human | 301 | 6.30x30 | TM6 | R => H | missense | 8.335e-06 | 1 | 119982 | 0 | 0.0 | 0.985 | SodiumPocket MicroSwitch |
ednra_human | 302 | 6.31x31 | TM6 | R => Q | missense | 8.313e-06 | 1 | 120288 | 0 | 0.01 | 0.915 | |
ednra_human | 308 | 6.37x37 | TM6 | V => I | missense | 8.256e-06 | 1 | 121128 | 0 | 0.0 | 0.621 | GP (contact) |
ednra_human | 316 | 6.45x45 | TM6 | A => D | missense | 8.242e-06 | 1 | 121330 | 0 | 0.0 | 0.979 | |
ednra_human | 317 | 6.46x46 | TM6 | L => V | missense | 1.648e-05 | 2 | 121336 | 0 | 0.11 | 0.999 | |
ednra_human | 335 | ECL3 | E => K | missense | 8.241e-06 | 1 | 121340 | 0 | 0.04 | 0.81 | ||
ednra_human | 336 | ECL3 | M => T | missense | 1.653e-05 | 2 | 120962 | 0 | 0.57 | 0.402 | ||
ednra_human | 354 | 7.38x37 | TM7 | G => S | missense | 1.688e-05 | 2 | 118454 | 0 | 0.22 | 0.972 | |
ednra_human | 356 | 7.40x39 | TM7 | N => D | missense | 9.256e-05 | 11 | 118842 | 0 | 0.0 | 0.984 | |
ednra_human | 363 | 7.47x47 | TM7 | C => S | missense | 8.423e-06 | 1 | 118718 | 0 | 0.0 | 0.995 | |
ednra_human | 368 | 7.52x52 | TM7 | A => T | missense | 8.508e-06 | 1 | 117542 | 0 | 0.03 | 0.908 | |
ednra_human | 370 | 7.54x54 | TM7 | Y => H | missense | 8.606e-06 | 1 | 116196 | 0 | 0.0 | 0.998 | |
ednra_human | 375 | 8.49x49 | H8 | K => E | missense | 9.169e-06 | 1 | 109066 | 0 | 0.0 | 0.998 | GP (contact) |
ednra_human | 391 | C-term | S => C | missense | 1.648e-05 | 2 | 121344 | 1 | 0.02 | 0.843 | PTM (Phosphorylation) | |
ednra_human | 396 | C-term | T => N | missense | 8.241e-06 | 1 | 121350 | 0 | 0.22 | 0.607 | PTM (Phosphorylation) | |
ednra_human | 397 | C-term | S => L | missense | 6.593e-05 | 8 | 121348 | 0 | 0.43 | 0.519 | PTM (Phosphorylation) | |
ednra_human | 402 | C-term | G => A | missense | 8.242e-06 | 1 | 121326 | 0 | 0.06 | 0.899 | ||
ednra_human | 419 | C-term | R => W | missense | 1.654e-05 | 2 | 120920 | 0 | nan | 0.835 | ||
ednra_human | 419 | C-term | R => Q | missense | 2.481e-05 | 3 | 120910 | 0 | nan | 0.417 | ||
ednra_human | 422 | C-term | H => R | missense | 8.257e-06 | 1 | 121116 | 0 | 0.69 | 0.402 |
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