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 |
5ht2a_human | 306 | ICL3 | Y => Ter | stop gained | 1.649e-05 | 2 | 121254 | 0 | None | None | ||
5ht2a_human | 280 | ICL3 | S => LeufsTer56 | frameshift | 8.25e-06 | 1 | 121218 | 0 | None | None | PTM (Phosphorylation) | |
5ht2a_human | 53 | N-term | T => AsnfsTer58 | frameshift | 6.061e-05 | 1 | 16498 | 0 | None | None | ||
5ht2a_human | 467 | C-term | K => N | missense | 8.43e-06 | 1 | 118628 | 0 | nan | 0.009 | ||
5ht2a_human | 465 | C-term | N => D | missense | 8.368e-06 | 1 | 119504 | 0 | nan | 0.004 | ||
5ht2a_human | 463 | C-term | G => R | missense | 8.328e-06 | 1 | 120074 | 0 | 0.53 | 0.079 | ||
5ht2a_human | 462 | C-term | D => N | missense | 3.32e-05 | 4 | 120470 | 0 | nan | 0.001 | ||
5ht2a_human | 460 | C-term | N => S | missense | 8.275e-06 | 1 | 120842 | 0 | nan | 0.002 | ||
5ht2a_human | 454 | C-term | E => Q | missense | 8.252e-06 | 1 | 121186 | 0 | nan | 0.276 | ||
5ht2a_human | 453 | C-term | S => C | missense | 3.3e-05 | 4 | 121196 | 0 | nan | 0.004 | ||
5ht2a_human | 453 | C-term | S => T | missense | 8.249e-06 | 1 | 121226 | 0 | 0.57 | 0.003 | ||
5ht2a_human | 452 | C-term | H => L | missense | 8.248e-06 | 1 | 121238 | 0 | nan | 0.002 | ||
5ht2a_human | 452 | C-term | H => Y | missense | 0.07896 | 9574 | 121246 | 429 | nan | 0.178 | ||
5ht2a_human | 450 | C-term | K => E | missense | 8.245e-06 | 1 | 121286 | 0 | nan | 0.037 | ||
5ht2a_human | 447 | C-term | A => V | missense | 0.001484 | 180 | 121296 | 0 | nan | 0.003 | ||
5ht2a_human | 447 | C-term | A => T | missense | 6.596e-05 | 8 | 121294 | 0 | nan | 0.001 | ||
5ht2a_human | 446 | C-term | V => A | missense | 8.244e-06 | 1 | 121298 | 0 | nan | 0.002 | ||
5ht2a_human | 443 | C-term | C => G | missense | 8.242e-06 | 1 | 121324 | 0 | 0.33 | 0.002 | ||
5ht2a_human | 436 | C-term | A => G | missense | 1.648e-05 | 2 | 121336 | 0 | nan | 0.006 | ||
5ht2a_human | 434 | C-term | Q => R | missense | 8.241e-06 | 1 | 121342 | 0 | nan | 0.0 | ||
5ht2a_human | 424 | C-term | L => F | missense | 8.241e-06 | 1 | 121350 | 0 | 0.01 | 0.894 | ||
5ht2a_human | 421 | C-term | S => Y | missense | 8.241e-06 | 1 | 121350 | 0 | 0.01 | 0.999 | ||
5ht2a_human | 419 | C-term | Y => C | missense | 3.297e-05 | 4 | 121338 | 0 | nan | 0.019 | PTM (Phosphorylation) | |
5ht2a_human | 415 | C-term | P => L | missense | 8.241e-06 | 1 | 121344 | 0 | 0.06 | 0.999 | ||
5ht2a_human | 410 | C-term | L => I | missense | 1.648e-05 | 2 | 121328 | 0 | nan | 0.998 | ||
5ht2a_human | 409 | C-term | I => F | missense | 8.242e-06 | 1 | 121332 | 0 | nan | 0.099 | ||
5ht2a_human | 401 | C-term | E => Q | missense | 8.246e-06 | 1 | 121270 | 0 | 0.23 | 0.953 | ||
5ht2a_human | 400 | C-term | K => Q | missense | 8.247e-06 | 1 | 121258 | 0 | 0.24 | 0.029 | ||
5ht2a_human | 393 | 8.56x56 | H8 | R => Q | missense | 1.65e-05 | 2 | 121196 | 0 | 0.01 | 0.998 | |
5ht2a_human | 386 | 8.49x49 | H8 | T => N | missense | 8.252e-06 | 1 | 121188 | 0 | 0.0 | 0.999 | GP (contact) |
5ht2a_human | 363 | 7.36x35 | TM7 | N => K | missense | 2.475e-05 | 3 | 121214 | 0 | 0.04 | 0.312 | LB (Van der Waals) |
5ht2a_human | 358 | 7.31x30 | TM7 | I => T | missense | 8.247e-06 | 1 | 121252 | 0 | 0.0 | 0.234 | |
5ht2a_human | 355 | 7.28x27 | TM7 | E => K | missense | 8.246e-06 | 1 | 121278 | 0 | 0.41 | 0.047 | |
5ht2a_human | 351 | ECL3 | E => G | missense | 8.245e-06 | 1 | 121292 | 0 | 0.3 | 0.086 | ||
5ht2a_human | 348 | 6.60x60 | TM6 | I => V | missense | 1.649e-05 | 2 | 121310 | 0 | 0.24 | 0.005 | |
5ht2a_human | 347 | 6.59x59 | TM6 | V => I | missense | 2.473e-05 | 3 | 121314 | 0 | 0.0 | 0.998 | |
5ht2a_human | 344 | 6.56x56 | TM6 | I => V | missense | 8.242e-06 | 1 | 121328 | 0 | 0.93 | 0.007 | |
5ht2a_human | 339 | 6.51x51 | TM6 | F => C | missense | 8.242e-06 | 1 | 121326 | 0 | 0.0 | 0.999 | LB (hydrophobic, Van der Waals, aromatic (edge-to-face)) |
5ht2a_human | 333 | 6.45x45 | TM6 | V => M | missense | 8.243e-06 | 1 | 121318 | 0 | 0.0 | 1.0 | LB (hydrophobic, Van der Waals) |
5ht2a_human | 330 | 6.42x42 | TM6 | F => L | missense | 8.243e-06 | 1 | 121316 | 0 | 0.14 | 0.365 | |
5ht2a_human | 328 | 6.40x40 | TM6 | V => I | missense | 3.297e-05 | 4 | 121306 | 0 | 0.0 | 0.998 | GP (contact) |
5ht2a_human | 312 | 6.24x24 | TM6 | M => V | missense | 2.474e-05 | 3 | 121266 | 0 | 0.15 | 0.986 | |
5ht2a_human | 310 | ICL3 | R => T | missense | 8.247e-06 | 1 | 121252 | 0 | 0.02 | 0.907 | ||
5ht2a_human | 307 | ICL3 | T => R | missense | 8.247e-06 | 1 | 121260 | 0 | 0.53 | 0.075 | ||
5ht2a_human | 305 | ICL3 | S => F | missense | 8.247e-06 | 1 | 121252 | 0 | 0.0 | 0.169 | PTM (Phosphorylation) | |
5ht2a_human | 304 | ICL3 | G => E | missense | 8.247e-06 | 1 | 121252 | 0 | 0.18 | 0.016 | ||
5ht2a_human | 303 | ICL3 | P => L | missense | 6.598e-05 | 8 | 121244 | 0 | 0.16 | 0.001 | ||
5ht2a_human | 302 | ICL3 | E => K | missense | 2.474e-05 | 3 | 121240 | 0 | 0.42 | 0.528 | ||
5ht2a_human | 297 | ICL3 | R => Q | missense | 4.125e-05 | 5 | 121208 | 0 | 0.15 | 0.753 | ||
5ht2a_human | 297 | ICL3 | R => W | missense | 1.65e-05 | 2 | 121194 | 0 | 0.02 | 0.997 | ||
5ht2a_human | 296 | ICL3 | Q => R | missense | 8.25e-06 | 1 | 121214 | 0 | 0.56 | 0.057 | ||
5ht2a_human | 294 | ICL3 | L => R | missense | 8.249e-06 | 1 | 121226 | 0 | 0.09 | 0.989 | ||
5ht2a_human | 294 | ICL3 | L => I | missense | 8.249e-06 | 1 | 121224 | 0 | 0.16 | 0.83 | ||
5ht2a_human | 287 | ICL3 | S => G | missense | 8.25e-06 | 1 | 121216 | 0 | 0.09 | 0.057 | PTM (Phosphorylation) | |
5ht2a_human | 284 | ICL3 | L => F | missense | 8.25e-06 | 1 | 121216 | 0 | 0.17 | 0.023 | ||
5ht2a_human | 280 | ICL3 | S => P | missense | 8.25e-06 | 1 | 121218 | 0 | 0.12 | 0.838 | PTM (Phosphorylation) | |
5ht2a_human | 277 | ICL3 | K => R | missense | 1.65e-05 | 2 | 121220 | 0 | 0.34 | 0.855 | ||
5ht2a_human | 275 | ICL3 | R => P | missense | 8.25e-06 | 1 | 121212 | 0 | 0.04 | 0.932 | ||
5ht2a_human | 275 | ICL3 | R => Q | missense | 8.25e-06 | 1 | 121212 | 0 | 0.11 | 0.587 | ||
5ht2a_human | 275 | ICL3 | R => W | missense | 2.475e-05 | 3 | 121216 | 0 | 0.0 | 0.971 | ||
5ht2a_human | 274 | ICL3 | T => I | missense | 1.65e-05 | 2 | 121216 | 0 | 0.1 | 0.055 | ||
5ht2a_human | 271 | 5.75x75 | TM5 | D => Y | missense | 3.3e-05 | 4 | 121216 | 0 | 0.01 | 0.748 | GP (contact) |
5ht2a_human | 258 | 5.62x62 | TM5 | I => V | missense | 1.65e-05 | 2 | 121196 | 0 | 0.25 | 0.996 | |
5ht2a_human | 255 | 5.59x59 | TM5 | F => L | missense | 8.251e-06 | 1 | 121200 | 0 | 0.25 | 0.781 | |
5ht2a_human | 245 | 5.49x49 | TM5 | I => T | missense | 8.252e-06 | 1 | 121184 | 0 | 0.09 | 0.761 | |
5ht2a_human | 245 | 5.49x49 | TM5 | I => N | missense | 8.252e-06 | 1 | 121184 | 0 | 0.0 | 0.942 | |
5ht2a_human | 241 | 5.45x46 | TM5 | V => M | missense | 8.253e-06 | 1 | 121162 | 0 | 0.05 | 0.965 | |
5ht2a_human | 235 | 5.39x40 | TM5 | V => I | missense | 8.254e-06 | 1 | 121150 | 0 | 0.34 | 0.194 | LB (hydrophobic, Van der Waals) |
5ht2a_human | 234 | 5.38x39 | TM5 | F => C | missense | 8.254e-06 | 1 | 121148 | 0 | 0.0 | 0.996 | LB (hydrophobic, Van der Waals) |
5ht2a_human | 230 | ECL2 | A => T | missense | 0.0001156 | 14 | 121120 | 0 | 0.9 | 0.009 | ||
5ht2a_human | 224 | ECL2 | E => G | missense | 1.653e-05 | 2 | 120998 | 0 | 0.03 | 0.004 | ||
5ht2a_human | 222 | ECL2 | F => L | missense | 8.273e-06 | 1 | 120882 | 0 | 0.12 | 0.996 | ||
5ht2a_human | 221 | ECL2 | V => F | missense | 8.277e-06 | 1 | 120820 | 0 | 0.02 | 0.937 | ||
5ht2a_human | 218 | ECL2 | D => N | missense | 2.49e-05 | 3 | 120492 | 0 | 0.29 | 0.843 | ||
5ht2a_human | 214 | 4.64x65 | TM4 | G => V | missense | 8.336e-06 | 1 | 119966 | 0 | 0.0 | 1.0 | |
5ht2a_human | 210 | 4.60x61 | TM4 | I => V | missense | 8.416e-06 | 1 | 118816 | 0 | 0.21 | 0.007 | LB (hydrophobic, Van der Waals) |
5ht2a_human | 197 | 4.47x47 | TM4 | I => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.16 | 0.214 | |
5ht2a_human | 197 | 4.47x47 | TM4 | I => V | missense | 0.006499 | 789 | 121412 | 27 | 0.72 | 0.536 | |
5ht2a_human | 185 | 34.55x55 | ICL2 | R => H | missense | 1.647e-05 | 2 | 121412 | 0 | 0.05 | 1.0 | GP (contact) |
5ht2a_human | 175 | 3.52x52 | TM3 | V => I | missense | 1.647e-05 | 2 | 121412 | 0 | 1.0 | 0.016 | |
5ht2a_human | 173 | 3.50x50 | TM3 | R => C | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
5ht2a_human | 168 | 3.45x45 | TM3 | A => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 1.0 | |
5ht2a_human | 155 | 3.32x32 | TM3 | D => E | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.999 | LB (polar (charge-assisted hydrogen bond), polar (charge-charge)) |
5ht2a_human | 140 | 23.49x49 | ECL1 | R => Q | missense | 1.65e-05 | 2 | 121248 | 0 | 0.55 | 0.005 | |
5ht2a_human | 126 | 2.56x551 | TM2 | L => V | missense | 8.295e-06 | 1 | 120552 | 0 | 0.01 | 0.765 | |
5ht2a_human | 118 | 2.48x48 | TM2 | I => V | missense | 8.251e-06 | 1 | 121202 | 0 | 1.0 | 0.164 | |
5ht2a_human | 102 | 1.60x60 | TM1 | E => K | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.999 | |
5ht2a_human | 97 | 1.55x55 | TM1 | M => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.438 | |
5ht2a_human | 95 | 1.53x53 | TM1 | V => I | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.998 | |
5ht2a_human | 93 | 1.51x51 | TM1 | I => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.03 | 0.999 | |
5ht2a_human | 83 | 1.41x41 | TM1 | V => I | missense | 1.647e-05 | 2 | 121410 | 0 | 0.83 | 0.002 | |
5ht2a_human | 78 | 1.36x36 | TM1 | A => V | missense | 8.237e-06 | 1 | 121410 | 0 | 0.01 | 0.905 | |
5ht2a_human | 76 | 1.34x34 | TM1 | W => L | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.998 | |
5ht2a_human | 68 | N-term | L => F | missense | 8.237e-06 | 1 | 121410 | 0 | 0.72 | 0.002 | ||
5ht2a_human | 60 | N-term | C => F | missense | 8.237e-06 | 1 | 121410 | 0 | nan | 0.005 | ||
5ht2a_human | 60 | N-term | C => Y | missense | 8.237e-06 | 1 | 121410 | 0 | 1.0 | 0.0 | ||
5ht2a_human | 52 | N-term | R => Q | missense | 2.471e-05 | 3 | 121410 | 0 | 0.49 | 0.001 | ||
5ht2a_human | 48 | N-term | D => N | missense | 6.589e-05 | 8 | 121410 | 0 | 0.37 | 0.001 | ||
5ht2a_human | 46 | N-term | T => I | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.996 | ||
5ht2a_human | 40 | N-term | S => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.24 | 0.411 | ||
5ht2a_human | 38 | N-term | N => K | missense | 8.237e-06 | 1 | 121404 | 0 | 0.01 | 0.255 | ||
5ht2a_human | 31 | N-term | D => Y | missense | 1.647e-05 | 2 | 121398 | 0 | nan | 0.172 | ||
5ht2a_human | 30 | N-term | N => Y | missense | 5.766e-05 | 7 | 121394 | 0 | nan | 0.033 | ||
5ht2a_human | 29 | N-term | S => G | missense | 8.238e-06 | 1 | 121390 | 0 | nan | 0.002 | ||
5ht2a_human | 25 | N-term | T => N | missense | 0.01854 | 2250 | 121354 | 24 | nan | 0.01 | ||
5ht2a_human | 25 | N-term | T => S | missense | 3.296e-05 | 4 | 121354 | 0 | nan | 0.0 | ||
5ht2a_human | 24 | N-term | D => N | missense | 8.243e-06 | 1 | 121322 | 0 | nan | 0.001 | ||
5ht2a_human | 23 | N-term | D => G | missense | 8.243e-06 | 1 | 121316 | 0 | nan | 0.0 | ||
5ht2a_human | 21 | N-term | L => I | missense | 8.246e-06 | 1 | 121264 | 0 | nan | 0.001 | ||
5ht2a_human | 19 | N-term | M => I | missense | 1.65e-05 | 2 | 121218 | 0 | nan | 0.0 | ||
5ht2a_human | 17 | N-term | S => T | missense | 8.272e-06 | 1 | 120894 | 0 | nan | 0.001 | ||
5ht2a_human | 15 | N-term | T => M | missense | 8.292e-06 | 1 | 120602 | 0 | nan | 0.001 | ||
5ht2a_human | 14 | N-term | T => I | missense | 8.308e-06 | 1 | 120366 | 0 | nan | 0.001 | ||
5ht2a_human | 14 | N-term | T => A | missense | 1.663e-05 | 2 | 120290 | 0 | nan | 0.001 | ||
5ht2a_human | 12 | N-term | S => N | missense | 0.0008264 | 99 | 119802 | 3 | 1.0 | 0.0 |
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