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 |
5ht5a_human | 16 | N-term | S => ProfsTer81 | frameshift | 8.261e-06 | 1 | 121052 | 0 | None | None | ||
5ht5a_human | 181 | ECL2 | W => Ter | stop gained | 8.25e-06 | 1 | 121210 | 0 | None | None | ||
5ht5a_human | 210 | 5.48x48 | TM5 | Y => Ter | stop gained | 8.244e-06 | 1 | 121298 | 0 | None | None | |
5ht5a_human | 223 | 5.61x61 | TM5 | I => SerfsTer26 | frameshift | 8.241e-06 | 1 | 121342 | 0 | None | None | GP (contact) |
5ht5a_human | 292 | 6.42x42 | TM6 | G => AlafsTer45 | frameshift | 8.239e-06 | 1 | 121374 | 0 | None | None | |
5ht5a_human | 310 | 6.60x60 | TM6 | L => SerfsTer27 | frameshift | 2.471e-05 | 3 | 121404 | 0 | None | None | |
5ht5a_human | 313 | ECL3 | C => LeufsTer3 | frameshift | 8.237e-06 | 1 | 121406 | 0 | None | None | ||
5ht5a_human | 338 | 7.53x53 | TM7 | Y => Ter | stop gained | 8.244e-06 | 1 | 121294 | 0 | None | None | SodiumPocket MicroSwitch |
5ht5a_human | 4 | N-term | P => L | missense | 8.462e-06 | 1 | 118176 | 0 | nan | 0.002 | ||
5ht5a_human | 14 | N-term | T => S | missense | 8.26e-06 | 1 | 121072 | 0 | 0.6 | 0.002 | ||
5ht5a_human | 15 | N-term | P => S | missense | 0.04337 | 5254 | 121142 | 140 | 0.52 | 0.001 | ||
5ht5a_human | 15 | N-term | P => T | missense | 8.255e-06 | 1 | 121142 | 0 | 0.12 | 0.001 | ||
5ht5a_human | 17 | N-term | P => R | missense | 8.249e-06 | 1 | 121220 | 0 | 0.01 | 0.068 | ||
5ht5a_human | 20 | N-term | T => A | missense | 8.245e-06 | 1 | 121284 | 0 | 0.47 | 0.0 | ||
5ht5a_human | 22 | N-term | H => Y | missense | 8.243e-06 | 1 | 121314 | 0 | 0.12 | 0.024 | ||
5ht5a_human | 23 | N-term | S => T | missense | 4.945e-05 | 6 | 121340 | 0 | 0.36 | 0.001 | ||
5ht5a_human | 25 | N-term | G => S | missense | 2.472e-05 | 3 | 121352 | 0 | 0.17 | 0.002 | ||
5ht5a_human | 25 | N-term | G => R | missense | 8.24e-06 | 1 | 121352 | 0 | 0.04 | 0.171 | ||
5ht5a_human | 27 | N-term | D => H | missense | 8.24e-06 | 1 | 121364 | 0 | 0.1 | 0.001 | ||
5ht5a_human | 28 | N-term | D => N | missense | 1.648e-05 | 2 | 121374 | 0 | 0.57 | 0.001 | ||
5ht5a_human | 30 | N-term | R => C | missense | 8.239e-06 | 1 | 121380 | 0 | 0.05 | 0.339 | ||
5ht5a_human | 30 | N-term | R => S | missense | 1.648e-05 | 2 | 121380 | 0 | 0.73 | 0.001 | ||
5ht5a_human | 30 | N-term | R => H | missense | 3.296e-05 | 4 | 121376 | 0 | 0.12 | 0.002 | ||
5ht5a_human | 31 | N-term | P => L | missense | 8.238e-06 | 1 | 121388 | 0 | 0.14 | 0.004 | ||
5ht5a_human | 35 | N-term | L => M | missense | 8.238e-06 | 1 | 121396 | 0 | 0.27 | 0.221 | ||
5ht5a_human | 37 | 1.29x29 | TM1 | S => L | missense | 3.295e-05 | 4 | 121388 | 0 | 0.0 | 0.148 | |
5ht5a_human | 38 | 1.30x30 | TM1 | V => F | missense | 8.238e-06 | 1 | 121386 | 0 | 0.02 | 0.049 | |
5ht5a_human | 40 | 1.32x32 | TM1 | G => R | missense | 8.238e-06 | 1 | 121382 | 0 | 0.22 | 0.006 | |
5ht5a_human | 41 | 1.33x33 | TM1 | V => M | missense | 0.0001236 | 15 | 121384 | 0 | 0.06 | 0.059 | |
5ht5a_human | 44 | 1.36x36 | TM1 | L => F | missense | 1.648e-05 | 2 | 121384 | 0 | 0.29 | 0.062 | |
5ht5a_human | 52 | 1.44x44 | TM1 | A => T | missense | 8.242e-06 | 1 | 121328 | 0 | 1.0 | 0.695 | |
5ht5a_human | 52 | 1.44x44 | TM1 | A => V | missense | 1.649e-05 | 2 | 121316 | 0 | 0.27 | 0.682 | |
5ht5a_human | 139 | 3.50x50 | TM3 | R => C | missense | 8.27e-06 | 1 | 120922 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch GP (contact) |
5ht5a_human | 139 | 3.50x50 | TM3 | R => H | missense | 8.269e-06 | 1 | 120930 | 0 | 0.0 | 0.998 | SodiumPocket MicroSwitch GP (contact) |
5ht5a_human | 141 | 3.52x52 | TM3 | W => L | missense | 8.265e-06 | 1 | 120986 | 0 | 0.01 | 0.651 | |
5ht5a_human | 143 | 3.54x54 | TM3 | I => T | missense | 8.263e-06 | 1 | 121018 | 0 | 0.0 | 0.72 | GP (contact) |
5ht5a_human | 144 | 3.55x55 | TM3 | T => M | missense | 8.262e-06 | 1 | 121042 | 0 | 0.01 | 0.843 | GP (contact) |
5ht5a_human | 144 | 3.55x55 | TM3 | T => K | missense | 1.652e-05 | 2 | 121042 | 0 | 0.01 | 0.591 | GP (contact) |
5ht5a_human | 145 | 3.56x56 | TM3 | R => C | missense | 8.26e-06 | 1 | 121060 | 0 | 0.0 | 0.248 | GP (contact) |
5ht5a_human | 145 | 3.56x56 | TM3 | R => H | missense | 5.783e-05 | 7 | 121050 | 0 | 0.06 | 0.178 | GP (contact) |
5ht5a_human | 149 | 34.53x53 | ICL2 | Y => H | missense | 8.257e-05 | 10 | 121116 | 0 | 0.0 | 1.0 | GP (contact) |
5ht5a_human | 150 | 34.54x54 | ICL2 | T => S | missense | 8.256e-06 | 1 | 121126 | 0 | 0.02 | 0.236 | GP (contact) |
5ht5a_human | 150 | 34.54x54 | ICL2 | T => A | missense | 8.256e-06 | 1 | 121126 | 0 | 0.1 | 0.371 | GP (contact) |
5ht5a_human | 153 | 4.37x37 | TM4 | T => I | missense | 1.651e-05 | 2 | 121162 | 0 | 0.12 | 0.03 | |
5ht5a_human | 154 | 4.38x38 | TM4 | R => H | missense | 3.301e-05 | 4 | 121166 | 0 | 0.02 | 0.982 | |
5ht5a_human | 154 | 4.38x38 | TM4 | R => L | missense | 2.476e-05 | 3 | 121166 | 0 | 0.01 | 0.95 | |
5ht5a_human | 157 | 4.41x41 | TM4 | V => I | missense | 0.0003383 | 41 | 121190 | 0 | 0.51 | 0.001 | |
5ht5a_human | 159 | 4.43x43 | TM4 | N => S | missense | 8.25e-06 | 1 | 121206 | 0 | 0.4 | 0.155 | |
5ht5a_human | 161 | 4.45x45 | TM4 | M => I | missense | 8.25e-06 | 1 | 121210 | 0 | 0.04 | 0.734 | |
5ht5a_human | 163 | 4.47x47 | TM4 | A => V | missense | 0.000561 | 68 | 121212 | 0 | 0.15 | 0.027 | |
5ht5a_human | 169 | 4.53x53 | TM4 | S => Y | missense | 8.25e-06 | 1 | 121212 | 0 | 0.0 | 0.98 | |
5ht5a_human | 170 | 4.54x54 | TM4 | A => S | missense | 2.475e-05 | 3 | 121218 | 0 | 0.24 | 0.176 | |
5ht5a_human | 170 | 4.54x54 | TM4 | A => T | missense | 4.95e-05 | 6 | 121218 | 0 | 0.41 | 0.103 | |
5ht5a_human | 170 | 4.54x54 | TM4 | A => V | missense | 1.65e-05 | 2 | 121214 | 0 | 0.97 | 0.264 | |
5ht5a_human | 175 | 4.59x59 | TM4 | A => P | missense | 8.249e-06 | 1 | 121222 | 0 | 0.29 | 0.174 | |
5ht5a_human | 181 | ECL2 | W => C | missense | 8.251e-06 | 1 | 121200 | 0 | 0.0 | 1.0 | ||
5ht5a_human | 183 | ECL2 | E => K | missense | 8.25e-06 | 1 | 121218 | 0 | 0.12 | 0.364 | ||
5ht5a_human | 184 | ECL2 | T => M | missense | 0.000297 | 36 | 121214 | 0 | 0.06 | 0.148 | ||
5ht5a_human | 196 | ECL2 | R => S | missense | 8.248e-06 | 1 | 121236 | 0 | 0.0 | 0.341 | ||
5ht5a_human | 198 | 5.36x37 | TM5 | P => A | missense | 8.249e-06 | 1 | 121234 | 0 | 0.12 | 0.271 | |
5ht5a_human | 206 | 5.44x45 | TM5 | V => A | missense | 8.247e-06 | 1 | 121262 | 0 | 0.41 | 0.062 | |
5ht5a_human | 214 | 5.52x52 | TM5 | C => Y | missense | 8.243e-06 | 1 | 121310 | 0 | 0.33 | 0.392 | |
5ht5a_human | 230 | 5.68x68 | TM5 | R => C | missense | 8.242e-06 | 1 | 121336 | 0 | 0.01 | 0.643 | GP (contact) |
5ht5a_human | 231 | 5.69x69 | TM5 | V => L | missense | 8.242e-06 | 1 | 121332 | 0 | 0.11 | 0.015 | GP (contact) |
5ht5a_human | 231 | 5.69x69 | TM5 | V => M | missense | 1.648e-05 | 2 | 121332 | 0 | 0.06 | 0.045 | GP (contact) |
5ht5a_human | 238 | 5.76x76 | TM5 | S => G | missense | 8.247e-06 | 1 | 121262 | 0 | 0.07 | 0.008 | |
5ht5a_human | 238 | 5.76x76 | TM5 | S => T | missense | 1.649e-05 | 2 | 121252 | 0 | 0.47 | 0.014 | |
5ht5a_human | 238 | 5.76x76 | TM5 | S => N | missense | 1.649e-05 | 2 | 121252 | 0 | 0.2 | 0.062 | |
5ht5a_human | 238 | 5.76x76 | TM5 | S => R | missense | 8.249e-06 | 1 | 121232 | 0 | 0.09 | 0.025 | |
5ht5a_human | 243 | ICL3 | S => F | missense | 1.654e-05 | 2 | 120944 | 0 | 0.05 | 0.17 | ||
5ht5a_human | 244 | ICL3 | E => Q | missense | 0.0001489 | 18 | 120870 | 0 | 0.29 | 0.426 | ||
5ht5a_human | 245 | ICL3 | A => D | missense | 1.656e-05 | 2 | 120768 | 0 | 0.08 | 0.02 | ||
5ht5a_human | 250 | ICL3 | D => Y | missense | 9.234e-06 | 1 | 108290 | 0 | 0.02 | 0.005 | ||
5ht5a_human | 254 | ICL3 | Q => K | missense | 7.096e-05 | 8 | 112738 | 0 | 0.46 | 0.003 | ||
5ht5a_human | 255 | ICL3 | P => R | missense | 1.751e-05 | 2 | 114244 | 0 | 0.02 | 0.072 | ||
5ht5a_human | 260 | ICL3 | T => M | missense | 2.553e-05 | 3 | 117518 | 0 | 0.04 | 0.291 | PTM (Phosphorylation) | |
5ht5a_human | 262 | ICL3 | R => C | missense | 3.366e-05 | 4 | 118852 | 0 | 0.01 | 0.021 | ||
5ht5a_human | 263 | ICL3 | H => P | missense | 8.353e-06 | 1 | 119722 | 0 | 0.16 | 0.003 | ||
5ht5a_human | 264 | ICL3 | A => T | missense | 0.0001834 | 22 | 119934 | 0 | 0.1 | 0.013 | ||
5ht5a_human | 266 | ICL3 | V => F | missense | 1.661e-05 | 2 | 120436 | 0 | 0.09 | 0.619 | ||
5ht5a_human | 266 | ICL3 | V => L | missense | 8.303e-06 | 1 | 120436 | 0 | 0.2 | 0.014 | ||
5ht5a_human | 266 | ICL3 | V => I | missense | 3.321e-05 | 4 | 120436 | 0 | 0.24 | 0.023 | ||
5ht5a_human | 273 | ICL3 | D => Y | missense | 6.612e-05 | 8 | 120998 | 0 | 0.0 | 0.759 | ||
5ht5a_human | 273 | ICL3 | D => A | missense | 8.264e-06 | 1 | 121014 | 0 | 0.17 | 0.012 | ||
5ht5a_human | 274 | 6.24x24 | TM6 | T => M | missense | 4.131e-05 | 5 | 121030 | 0 | 0.04 | 0.094 | |
5ht5a_human | 275 | 6.25x25 | TM6 | W => G | missense | 8.259e-06 | 1 | 121076 | 0 | 0.09 | 0.333 | GP (contact) |
5ht5a_human | 275 | 6.25x25 | TM6 | W => R | missense | 8.259e-06 | 1 | 121076 | 0 | 0.13 | 0.467 | GP (contact) |
5ht5a_human | 276 | 6.26x26 | TM6 | R => W | missense | 4.955e-05 | 6 | 121096 | 0 | 0.0 | 0.969 | GP (contact) |
5ht5a_human | 276 | 6.26x26 | TM6 | R => Q | missense | 4.128e-05 | 5 | 121114 | 0 | 0.05 | 0.393 | GP (contact) |
5ht5a_human | 280 | 6.30x30 | TM6 | E => D | missense | 1.649e-05 | 2 | 121264 | 0 | 0.01 | 0.314 | SodiumPocket MicroSwitch |
5ht5a_human | 281 | 6.31x31 | TM6 | Q => E | missense | 8.246e-06 | 1 | 121270 | 0 | 0.02 | 0.232 | |
5ht5a_human | 282 | 6.32x32 | TM6 | R => W | missense | 8.244e-06 | 1 | 121294 | 0 | 0.0 | 0.958 | GP (contact) |
5ht5a_human | 282 | 6.32x32 | TM6 | R => L | missense | 8.245e-05 | 10 | 121292 | 0 | 0.0 | 0.58 | GP (contact) |
5ht5a_human | 282 | 6.32x32 | TM6 | R => Q | missense | 3.298e-05 | 4 | 121292 | 0 | 0.05 | 0.18 | GP (contact) |
5ht5a_human | 284 | 6.34x34 | TM6 | A => T | missense | 8.242e-06 | 1 | 121328 | 0 | 0.01 | 0.7 | SodiumPocket MicroSwitch |
5ht5a_human | 284 | 6.34x34 | TM6 | A => S | missense | 8.242e-06 | 1 | 121328 | 0 | 0.01 | 0.803 | SodiumPocket MicroSwitch |
5ht5a_human | 286 | 6.36x36 | TM6 | M => T | missense | 8.24e-06 | 1 | 121358 | 0 | 0.77 | 0.019 | GP (contact) |
5ht5a_human | 288 | 6.38x38 | TM6 | G => V | missense | 8.24e-06 | 1 | 121360 | 0 | 0.0 | 0.997 | |
5ht5a_human | 293 | 6.43x43 | TM6 | V => M | missense | 8.239e-06 | 1 | 121376 | 0 | 0.02 | 0.818 | |
5ht5a_human | 295 | 6.45x45 | TM6 | V => M | missense | 9.063e-05 | 11 | 121374 | 0 | 0.02 | 0.967 | |
5ht5a_human | 295 | 6.45x45 | TM6 | V => L | missense | 8.239e-06 | 1 | 121374 | 0 | 0.01 | 0.804 | |
5ht5a_human | 298 | 6.48x48 | TM6 | W => R | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.998 | SodiumPocket MicroSwitch LB (Van der Waals) |
5ht5a_human | 299 | 6.49x49 | TM6 | I => T | missense | 9.062e-05 | 11 | 121392 | 0 | 0.08 | 0.021 | |
5ht5a_human | 302 | 6.52x52 | TM6 | F => L | missense | 8.238e-06 | 1 | 121396 | 0 | 0.0 | 1.0 | LB (aromatic (edge-to-face), Van der Waals, hydrophobic) |
5ht5a_human | 305 | 6.55x55 | TM6 | E => K | missense | 1.647e-05 | 2 | 121398 | 0 | 0.06 | 0.981 | LB (polar (charge-assisted hydrogen bond)) |
5ht5a_human | 306 | 6.56x56 | TM6 | L => F | missense | 8.237e-06 | 1 | 121398 | 0 | 0.03 | 0.656 | |
5ht5a_human | 307 | 6.57x57 | TM6 | I => L | missense | 8.237e-06 | 1 | 121400 | 0 | 0.38 | 0.003 | |
5ht5a_human | 308 | 6.58x58 | TM6 | S => N | missense | 4.118e-05 | 5 | 121404 | 0 | 0.56 | 0.021 | |
5ht5a_human | 309 | 6.59x59 | TM6 | P => S | missense | 2.471e-05 | 3 | 121398 | 0 | 0.03 | 0.989 | |
5ht5a_human | 312 | ECL3 | S => F | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.595 | ||
5ht5a_human | 316 | 7.31x30 | TM7 | P => L | missense | 1.647e-05 | 2 | 121406 | 0 | 0.0 | 0.992 | |
5ht5a_human | 317 | 7.32x31 | TM7 | A => T | missense | 3.295e-05 | 4 | 121406 | 0 | 0.03 | 0.009 | |
5ht5a_human | 317 | 7.32x31 | TM7 | A => V | missense | 8.237e-06 | 1 | 121406 | 0 | 0.02 | 0.143 | |
5ht5a_human | 318 | 7.33x32 | TM7 | I => T | missense | 8.237e-06 | 1 | 121406 | 0 | 0.26 | 0.007 | |
5ht5a_human | 321 | 7.36x35 | TM7 | S => N | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.981 | |
5ht5a_human | 331 | 7.46x46 | TM7 | S => T | missense | 2.471e-05 | 3 | 121392 | 0 | 0.0 | 1.0 | |
5ht5a_human | 332 | 7.47x47 | TM7 | F => L | missense | 1.648e-05 | 2 | 121372 | 0 | 0.49 | 0.075 | |
5ht5a_human | 335 | 7.50x50 | TM7 | P => R | missense | 8.241e-06 | 1 | 121348 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
5ht5a_human | 338 | 7.53x53 | TM7 | Y => C | missense | 8.244e-06 | 1 | 121298 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
5ht5a_human | 339 | 7.54x54 | TM7 | T => M | missense | 2.474e-05 | 3 | 121270 | 0 | 0.02 | 0.849 | |
5ht5a_human | 339 | 7.54x54 | TM7 | T => R | missense | 1.649e-05 | 2 | 121270 | 0 | 0.0 | 0.989 | |
5ht5a_human | 340 | 7.55x55 | TM7 | A => T | missense | 1.649e-05 | 2 | 121266 | 0 | 0.13 | 0.968 | GP (contact) |
5ht5a_human | 344 | 8.49x49 | H8 | N => S | missense | 8.258e-06 | 1 | 121090 | 0 | 0.09 | 0.005 | GP (contact) |
5ht5a_human | 344 | 8.49x49 | H8 | N => K | missense | 8.264e-06 | 1 | 121002 | 0 | 0.02 | 0.012 | GP (contact) |
5ht5a_human | 348 | 8.53x53 | H8 | A => T | missense | 1.659e-05 | 2 | 120556 | 0 | 0.04 | 0.984 | |
5ht5a_human | 348 | 8.53x53 | H8 | A => D | missense | 8.301e-06 | 1 | 120464 | 0 | 0.0 | 0.993 | |
5ht5a_human | 350 | 8.55x55 | H8 | K => Q | missense | 3.325e-05 | 4 | 120288 | 0 | 0.01 | 0.083 | |
5ht5a_human | 351 | 8.56x56 | H8 | N => K | missense | 8.338e-06 | 1 | 119938 | 0 | 1.0 | 0.007 | |
5ht5a_human | 357 | C-term | H => L | missense | 8.474e-06 | 1 | 118008 | 0 | 0.01 | 0.017 |
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