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 |
ada1b_human | 366 | C-term | Q => Ter | stop gained | 2.807e-05 | 3 | 106860 | 0 | None | None | ||
ada1b_human | 462 | C-term | P => ArgfsTer? | frameshift | 0.0002695 | 1 | 3710 | 0 | None | None | ||
ada1b_human | 4 | N-term | D => V | missense | 8.682e-06 | 1 | 115176 | 0 | nan | 0.007 | ||
ada1b_human | 4 | N-term | D => E | missense | 8.667e-06 | 1 | 115380 | 0 | nan | 0.001 | ||
ada1b_human | 7 | N-term | T => A | missense | 0.0001969 | 23 | 116822 | 0 | nan | 0.0 | ||
ada1b_human | 7 | N-term | T => S | missense | 8.56e-06 | 1 | 116822 | 0 | nan | 0.002 | ||
ada1b_human | 8 | N-term | G => S | missense | 8.497e-06 | 1 | 117692 | 0 | nan | 0.002 | ||
ada1b_human | 9 | N-term | H => Y | missense | 6.759e-05 | 8 | 118356 | 0 | nan | 0.001 | ||
ada1b_human | 14 | N-term | P => S | missense | 8.333e-06 | 1 | 120000 | 0 | nan | 0.002 | ||
ada1b_human | 17 | N-term | W => R | missense | 8.284e-06 | 1 | 120718 | 0 | nan | 0.031 | ||
ada1b_human | 19 | N-term | E => Q | missense | 4.134e-05 | 5 | 120950 | 0 | nan | 0.032 | ||
ada1b_human | 24 | N-term | N => T | missense | 8.248e-05 | 10 | 121246 | 0 | 0.12 | 0.057 | ||
ada1b_human | 24 | N-term | N => S | missense | 1.65e-05 | 2 | 121246 | 0 | 0.17 | 0.002 | ||
ada1b_human | 26 | N-term | T => S | missense | 3.298e-05 | 4 | 121276 | 0 | 0.56 | 0.001 | ||
ada1b_human | 29 | N-term | N => S | missense | 8.243e-06 | 1 | 121320 | 0 | 0.14 | 0.069 | ||
ada1b_human | 30 | N-term | Q => R | missense | 8.242e-06 | 1 | 121330 | 0 | 0.41 | 0.001 | ||
ada1b_human | 33 | N-term | S => R | missense | 3.296e-05 | 4 | 121342 | 0 | 0.05 | 0.0 | ||
ada1b_human | 38 | N-term | P => T | missense | 8.241e-06 | 1 | 121346 | 0 | 0.09 | 0.115 | ||
ada1b_human | 43 | 1.30x30 | TM1 | T => I | missense | 0.0005521 | 67 | 121356 | 0 | 0.04 | 0.276 | |
ada1b_human | 45 | 1.32x32 | TM1 | A => T | missense | 8.24e-06 | 1 | 121356 | 0 | 0.06 | 0.996 | |
ada1b_human | 46 | 1.33x33 | TM1 | I => T | missense | 8.24e-06 | 1 | 121356 | 0 | 0.01 | 0.185 | |
ada1b_human | 48 | 1.35x35 | TM1 | V => M | missense | 8.24e-06 | 1 | 121354 | 0 | 0.02 | 0.757 | |
ada1b_human | 53 | 1.40x40 | TM1 | G => D | missense | 8.24e-06 | 1 | 121360 | 0 | 0.0 | 0.988 | |
ada1b_human | 57 | 1.44x44 | TM1 | L => V | missense | 8.241e-06 | 1 | 121340 | 0 | 0.34 | 0.002 | |
ada1b_human | 61 | 1.48x48 | TM1 | V => L | missense | 2.472e-05 | 3 | 121340 | 0 | 0.34 | 0.162 | |
ada1b_human | 61 | 1.48x48 | TM1 | V => M | missense | 8.241e-06 | 1 | 121340 | 0 | 0.06 | 0.657 | |
ada1b_human | 67 | 1.54x54 | TM1 | I => N | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 0.999 | |
ada1b_human | 69 | 1.56x56 | TM1 | S => F | missense | 1.648e-05 | 2 | 121346 | 0 | 0.0 | 0.989 | |
ada1b_human | 74 | 12.48x48 | ICL1 | R => P | missense | 3.297e-05 | 4 | 121336 | 0 | 0.03 | 0.958 | |
ada1b_human | 77 | 12.51x51 | ICL1 | R => W | missense | 4.121e-05 | 5 | 121326 | 0 | 0.0 | 1.0 | |
ada1b_human | 78 | 2.37x37 | TM2 | T => M | missense | 8.241e-06 | 1 | 121342 | 0 | 0.0 | 0.846 | |
ada1b_human | 80 | 2.39x39 | TM2 | T => I | missense | 8.24e-06 | 1 | 121352 | 0 | 0.02 | 1.0 | |
ada1b_human | 82 | 2.41x41 | TM2 | Y => C | missense | 8.24e-06 | 1 | 121362 | 0 | 0.0 | 1.0 | |
ada1b_human | 90 | 2.49x49 | TM2 | A => D | missense | 8.239e-06 | 1 | 121372 | 0 | 0.0 | 1.0 | |
ada1b_human | 91 | 2.50x50 | TM2 | D => N | missense | 1.648e-05 | 2 | 121374 | 0 | 0.0 | 0.999 | |
ada1b_human | 96 | 2.55x55 | TM2 | F => S | missense | 3.296e-05 | 4 | 121374 | 0 | 0.25 | 0.036 | |
ada1b_human | 101 | 2.60x59 | TM2 | F => L | missense | 8.239e-06 | 1 | 121374 | 0 | 0.01 | 0.695 | |
ada1b_human | 109 | 2.68x67 | TM2 | G => S | missense | 1.648e-05 | 2 | 121358 | 0 | 0.06 | 0.907 | |
ada1b_human | 113 | 23.52x52 | ECL1 | L => P | missense | 8.24e-06 | 1 | 121362 | 0 | 0.0 | 0.983 | |
ada1b_human | 124 | 3.31x31 | TM3 | V => M | missense | 1.648e-05 | 2 | 121360 | 0 | 0.03 | 0.82 | |
ada1b_human | 126 | 3.33x33 | TM3 | V => I | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 0.998 | LB (polar (hydrogen bond)) |
ada1b_human | 138 | 3.45x45 | TM3 | A => T | missense | 8.242e-06 | 1 | 121334 | 0 | 0.34 | 0.157 | |
ada1b_human | 141 | 3.48x48 | TM3 | I => T | missense | 8.241e-06 | 1 | 121350 | 0 | 0.0 | 0.999 | |
ada1b_human | 143 | 3.50x50 | TM3 | R => H | missense | 8.241e-06 | 1 | 121344 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch GP (contact) |
ada1b_human | 147 | 3.54x54 | TM3 | V => A | missense | 1.648e-05 | 2 | 121350 | 0 | 0.0 | 0.998 | GP (contact) |
ada1b_human | 148 | 3.55x55 | TM3 | R => H | missense | 8.24e-06 | 1 | 121356 | 0 | 0.01 | 0.954 | GP (contact) |
ada1b_human | 155 | 34.55x55 | ICL2 | T => M | missense | 8.24e-06 | 1 | 121362 | 0 | 0.17 | 0.192 | GP (contact) |
ada1b_human | 159 | 4.39x39 | TM4 | R => W | missense | 8.242e-06 | 1 | 121336 | 0 | 0.0 | 0.991 | |
ada1b_human | 159 | 4.39x39 | TM4 | R => Q | missense | 8.24e-06 | 1 | 121352 | 0 | 0.18 | 0.841 | |
ada1b_human | 162 | 4.42x42 | TM4 | A => T | missense | 8.239e-06 | 1 | 121376 | 0 | 0.02 | 0.773 | |
ada1b_human | 164 | 4.44x44 | TM4 | L => F | missense | 8.239e-06 | 1 | 121374 | 0 | 0.05 | 1.0 | |
ada1b_human | 167 | 4.47x47 | TM4 | L => F | missense | 4.943e-05 | 6 | 121380 | 0 | 0.06 | 0.956 | |
ada1b_human | 168 | 4.48x48 | TM4 | S => G | missense | 1.648e-05 | 2 | 121380 | 0 | 0.58 | 0.003 | |
ada1b_human | 175 | 4.55x55 | TM4 | V => I | missense | 2.472e-05 | 3 | 121382 | 0 | 0.1 | 0.708 | |
ada1b_human | 176 | 4.56x56 | TM4 | I => V | missense | 8.238e-06 | 1 | 121384 | 0 | 0.15 | 0.996 | |
ada1b_human | 178 | 4.58x58 | TM4 | I => L | missense | 8.238e-06 | 1 | 121384 | 0 | 0.01 | 0.996 | |
ada1b_human | 179 | 4.59x59 | TM4 | G => E | missense | 1.648e-05 | 2 | 121382 | 0 | 0.0 | 1.0 | |
ada1b_human | 182 | 4.62x62 | TM4 | L => I | missense | 8.238e-06 | 1 | 121390 | 0 | 0.01 | 0.953 | |
ada1b_human | 183 | 4.63x63 | TM4 | G => E | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 1.0 | |
ada1b_human | 186 | ECL2 | E => G | missense | 1.648e-05 | 2 | 121386 | 0 | 0.0 | 0.976 | ||
ada1b_human | 186 | ECL2 | E => D | missense | 8.239e-06 | 1 | 121380 | 0 | 0.05 | 0.892 | ||
ada1b_human | 188 | ECL2 | A => E | missense | 8.24e-06 | 1 | 121366 | 0 | 0.37 | 0.976 | ||
ada1b_human | 191 | ECL2 | D => N | missense | 1.648e-05 | 2 | 121370 | 0 | 0.07 | 0.999 | ||
ada1b_human | 191 | ECL2 | D => E | missense | 8.24e-06 | 1 | 121366 | 0 | 0.0 | 0.998 | ||
ada1b_human | 194 | ECL2 | E => G | missense | 8.24e-06 | 1 | 121364 | 0 | 0.42 | 0.574 | ||
ada1b_human | 194 | ECL2 | E => V | missense | 8.24e-06 | 1 | 121364 | 0 | 0.43 | 0.011 | ||
ada1b_human | 196 | 45.51x51 | ECL2 | G => R | missense | 2.472e-05 | 3 | 121342 | 0 | 0.67 | 0.006 | LB (polar (hydrogen bond), polar (hydrogen bond with backbone)) |
ada1b_human | 201 | 5.36x37 | TM5 | P => S | missense | 8.241e-06 | 1 | 121346 | 0 | 0.0 | 0.995 | |
ada1b_human | 214 | 5.49x49 | TM5 | I => V | missense | 8.239e-06 | 1 | 121372 | 0 | 0.15 | 0.996 | |
ada1b_human | 217 | 5.52x52 | TM5 | A => V | missense | 0.000173 | 21 | 121370 | 0 | 0.67 | 0.033 | |
ada1b_human | 221 | 5.56x56 | TM5 | V => A | missense | 8.238e-06 | 1 | 121388 | 0 | 0.31 | 0.151 | |
ada1b_human | 225 | 5.60x60 | TM5 | R => G | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 0.999 | |
ada1b_human | 225 | 5.60x60 | TM5 | R => H | missense | 1.647e-05 | 2 | 121398 | 0 | 0.0 | 0.999 | |
ada1b_human | 238 | 5.73x73 | TM5 | E => G | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.999 | |
ada1b_human | 244 | ICL3 | E => V | missense | 8.24e-06 | 1 | 121364 | 0 | 0.07 | 0.995 | ||
ada1b_human | 245 | ICL3 | M => L | missense | 3.296e-05 | 4 | 121358 | 0 | 0.21 | 0.233 | ||
ada1b_human | 262 | ICL3 | E => K | missense | 8.256e-06 | 1 | 121130 | 0 | 0.16 | 0.93 | ||
ada1b_human | 264 | ICL3 | T => P | missense | 8.26e-06 | 1 | 121068 | 0 | 0.36 | 0.005 | ||
ada1b_human | 269 | ICL3 | K => N | missense | 8.269e-06 | 1 | 120940 | 0 | 0.13 | 0.66 | ||
ada1b_human | 272 | ICL3 | G => S | missense | 8.274e-06 | 1 | 120862 | 0 | 0.19 | 0.052 | ||
ada1b_human | 275 | ICL3 | P => A | missense | 8.29e-06 | 1 | 120622 | 0 | 0.57 | 0.011 | ||
ada1b_human | 277 | ICL3 | S => I | missense | 8.306e-06 | 1 | 120402 | 0 | 0.01 | 0.87 | ||
ada1b_human | 279 | ICL3 | I => T | missense | 1.664e-05 | 2 | 120192 | 0 | 0.0 | 0.318 | ||
ada1b_human | 281 | ICL3 | V => I | missense | 5.003e-05 | 6 | 119932 | 0 | 0.03 | 0.067 | ||
ada1b_human | 287 | 6.28x28 | TM6 | S => C | missense | 8.389e-06 | 1 | 119208 | 0 | 0.0 | 0.999 | GP (contact) |
ada1b_human | 295 | 6.36x36 | TM6 | T => P | missense | 8.494e-06 | 1 | 117730 | 0 | 0.0 | 1.0 | GP (contact) |
ada1b_human | 295 | 6.36x36 | TM6 | T => M | missense | 4.251e-05 | 5 | 117622 | 0 | 0.0 | 1.0 | GP (contact) |
ada1b_human | 301 | 6.42x42 | TM6 | G => S | missense | 4.329e-05 | 5 | 115502 | 0 | 0.02 | 1.0 | |
ada1b_human | 316 | 6.57x57 | TM6 | L => F | missense | 9.166e-06 | 1 | 109094 | 0 | 0.08 | 0.986 | |
ada1b_human | 327 | 7.32x31 | TM7 | D => Y | missense | 9.084e-06 | 1 | 110080 | 0 | 0.0 | 0.902 | LB (polar (hydrogen bond with backbone), Van der Waals) |
ada1b_human | 327 | 7.32x31 | TM7 | D => E | missense | 9.064e-06 | 1 | 110326 | 0 | 1.0 | 0.009 | LB (polar (hydrogen bond with backbone), Van der Waals) |
ada1b_human | 332 | 7.37x36 | TM7 | V => L | missense | 0.0004788 | 54 | 112784 | 0 | 0.04 | 0.068 | |
ada1b_human | 344 | 7.49x49 | TM7 | N => D | missense | 8.575e-06 | 1 | 116622 | 0 | 0.02 | 0.809 | SodiumPocket MicroSwitch |
ada1b_human | 345 | 7.50x50 | TM7 | P => T | missense | 8.567e-06 | 1 | 116732 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
ada1b_human | 346 | 7.51x51 | TM7 | I => T | missense | 8.564e-06 | 1 | 116770 | 0 | 0.0 | 0.998 | |
ada1b_human | 347 | 7.52x52 | TM7 | I => V | missense | 8.561e-06 | 1 | 116810 | 0 | 0.0 | 0.994 | |
ada1b_human | 351 | 7.56x56 | TM7 | S => P | missense | 8.561e-06 | 1 | 116808 | 0 | 0.12 | 0.276 | GP (contact) |
ada1b_human | 351 | 7.56x56 | TM7 | S => C | missense | 8.56e-06 | 1 | 116818 | 0 | 0.09 | 0.533 | GP (contact) |
ada1b_human | 352 | 8.47x47 | H8 | S => G | missense | 8.56e-06 | 1 | 116818 | 0 | 0.03 | 0.132 | GP (contact) |
ada1b_human | 357 | 8.52x52 | H8 | R => C | missense | 5.172e-05 | 6 | 116008 | 0 | 0.0 | 0.549 | |
ada1b_human | 357 | 8.52x52 | H8 | R => S | missense | 5.172e-05 | 6 | 116008 | 0 | 0.0 | 0.103 | |
ada1b_human | 359 | 8.54x54 | H8 | F => L | missense | 8.655e-06 | 1 | 115536 | 0 | 0.0 | 0.433 | |
ada1b_human | 361 | 8.56x56 | H8 | R => H | missense | 1.753e-05 | 2 | 114062 | 0 | 0.03 | 0.635 | |
ada1b_human | 364 | 8.59x59 | H8 | G => R | missense | 1.792e-05 | 2 | 111632 | 0 | 1.0 | 0.0 | |
ada1b_human | 366 | C-term | Q => H | missense | 8.617e-05 | 9 | 104448 | 0 | 0.11 | 0.005 | ||
ada1b_human | 366 | C-term | Q => H | missense | 9.574e-06 | 1 | 104448 | 0 | 0.11 | 0.005 | ||
ada1b_human | 374 | C-term | R => Q | missense | 0.0008125 | 33 | 40614 | 0 | 0.39 | 0.238 | ||
ada1b_human | 374 | C-term | R => P | missense | 2.462e-05 | 1 | 40614 | 0 | 0.1 | 0.453 | ||
ada1b_human | 376 | C-term | R => C | missense | 5.378e-05 | 1 | 18596 | 0 | 0.01 | 0.183 | ||
ada1b_human | 399 | C-term | R => H | missense | 0.000271 | 1 | 3690 | 0 | nan | 0.047 | PTM (Methylation) | |
ada1b_human | 434 | C-term | G => S | missense | 0.0002897 | 1 | 3452 | 0 | nan | 0.001 | ||
ada1b_human | 466 | C-term | G => D | missense | 0.0002172 | 1 | 4604 | 0 | nan | 0.014 |
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