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 |
5ht4r_human | 335 | C-term | R => Ter | stop gained | 8.272e-06 | 1 | 120894 | 0 | None | None | ||
5ht4r_human | 261 | 6.37x37 | TM6 | L => CysfsTer25 | frameshift | 8.252e-06 | 1 | 121182 | 0 | None | None | GP (contact) |
5ht4r_human | 93 | 3.25x25 | TM3 | C => Ter | stop gained | 9.166e-06 | 1 | 109098 | 0 | None | None | |
5ht4r_human | 74 | 2.58x57 | TM2 | M => LeufsTer19 | frameshift | 0.0001588 | 19 | 119634 | 1 | None | None | |
5ht4r_human | 66 | 2.50x50 | TM2 | D => Ter | stop gained | 0.0002789 | 3 | 10758 | 0 | None | None | |
5ht4r_human | 375 | C-term | P => R | missense | 8.238e-06 | 1 | 121396 | 0 | nan | 0.132 | ||
5ht4r_human | 366 | C-term | G => R | missense | 8.238e-06 | 1 | 121390 | 0 | nan | 0.021 | ||
5ht4r_human | 362 | C-term | V => I | missense | 3.296e-05 | 4 | 121374 | 0 | nan | 0.029 | ||
5ht4r_human | 356 | C-term | H => R | missense | 8.844e-06 | 1 | 113076 | 0 | nan | 0.865 | ||
5ht4r_human | 352 | C-term | N => K | missense | 8.652e-06 | 1 | 115584 | 0 | nan | 0.967 | ||
5ht4r_human | 350 | C-term | T => S | missense | 8.555e-06 | 1 | 116884 | 0 | 0.41 | 0.106 | ||
5ht4r_human | 350 | C-term | T => A | missense | 2.564e-05 | 3 | 116998 | 0 | 0.04 | 0.452 | ||
5ht4r_human | 349 | C-term | T => A | missense | 8.517e-06 | 1 | 117410 | 0 | 0.16 | 0.051 | ||
5ht4r_human | 348 | C-term | T => N | missense | 8.495e-06 | 1 | 117718 | 0 | 0.06 | 0.049 | ||
5ht4r_human | 343 | C-term | T => I | missense | 8.361e-06 | 1 | 119596 | 0 | 0.01 | 0.419 | ||
5ht4r_human | 339 | C-term | I => S | missense | 8.295e-06 | 1 | 120560 | 0 | 0.2 | 0.011 | ||
5ht4r_human | 333 | C-term | R => H | missense | 3.307e-05 | 4 | 120956 | 0 | nan | 0.039 | ||
5ht4r_human | 333 | C-term | R => C | missense | 1.653e-05 | 2 | 120990 | 0 | nan | 0.91 | ||
5ht4r_human | 332 | C-term | E => G | missense | 2.479e-05 | 3 | 121018 | 0 | 0.03 | 0.281 | ||
5ht4r_human | 330 | C-term | D => E | missense | 8.261e-06 | 1 | 121054 | 0 | 0.05 | 0.253 | ||
5ht4r_human | 322 | 8.53x53 | H8 | A => V | missense | 8.256e-06 | 1 | 121126 | 0 | 0.0 | 1.0 | |
5ht4r_human | 321 | 8.52x52 | H8 | R => H | missense | 1.651e-05 | 2 | 121120 | 0 | 0.04 | 0.087 | |
5ht4r_human | 321 | 8.52x52 | H8 | R => C | missense | 8.256e-05 | 10 | 121128 | 0 | 0.01 | 0.959 | |
5ht4r_human | 318 | 8.49x49 | H8 | S => C | missense | 1.651e-05 | 2 | 121148 | 0 | 0.02 | 0.952 | GP (contact) |
5ht4r_human | 313 | 7.54x54 | TM7 | A => T | missense | 2.476e-05 | 3 | 121160 | 0 | 0.01 | 0.995 | |
5ht4r_human | 306 | 7.47x47 | TM7 | G => V | missense | 8.253e-06 | 1 | 121172 | 0 | 0.04 | 0.85 | |
5ht4r_human | 306 | 7.47x47 | TM7 | G => R | missense | 8.254e-06 | 1 | 121160 | 0 | 0.02 | 0.976 | |
5ht4r_human | 302 | 7.43x42 | TM7 | Y => F | missense | 2.475e-05 | 3 | 121188 | 0 | 0.0 | 1.0 | |
5ht4r_human | 291 | 7.32x31 | TM7 | G => R | missense | 8.251e-06 | 1 | 121202 | 0 | 0.51 | 0.043 | |
5ht4r_human | 283 | 6.59x59 | TM6 | P => L | missense | 8.251e-06 | 1 | 121196 | 0 | 0.0 | 1.0 | |
5ht4r_human | 279 | 6.55x55 | TM6 | N => S | missense | 2.476e-05 | 3 | 121182 | 0 | 0.0 | 1.0 | |
5ht4r_human | 278 | 6.54x54 | TM6 | T => S | missense | 8.251e-06 | 1 | 121196 | 0 | 0.05 | 0.879 | LB (polar (hydrogen bond)) |
5ht4r_human | 277 | 6.53x53 | TM6 | V => I | missense | 8.252e-06 | 1 | 121180 | 0 | 0.97 | 0.024 | |
5ht4r_human | 263 | 6.39x39 | TM6 | I => N | missense | 9.077e-05 | 11 | 121182 | 0 | 0.0 | 0.988 | |
5ht4r_human | 260 | 6.36x36 | TM6 | T => N | missense | 6.602e-05 | 8 | 121180 | 1 | 0.0 | 1.0 | GP (contact) |
5ht4r_human | 260 | 6.36x36 | TM6 | T => A | missense | 8.252e-06 | 1 | 121178 | 0 | 0.0 | 1.0 | GP (contact) |
5ht4r_human | 258 | 6.34x34 | TM6 | A => T | missense | 8.253e-06 | 1 | 121162 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
5ht4r_human | 255 | 6.31x31 | TM6 | T => I | missense | 8.253e-06 | 1 | 121172 | 0 | 0.0 | 0.992 | |
5ht4r_human | 253 | 6.29x29 | TM6 | T => I | missense | 8.253e-06 | 1 | 121168 | 0 | 0.13 | 0.102 | GP (contact) |
5ht4r_human | 252 | 6.28x28 | TM6 | R => K | missense | 8.254e-06 | 1 | 121148 | 0 | 0.96 | 0.02 | GP (contact) |
5ht4r_human | 250 | 6.26x26 | TM6 | R => H | missense | 6.603e-05 | 8 | 121160 | 0 | 0.04 | 0.993 | GP (contact) |
5ht4r_human | 250 | 6.26x26 | TM6 | R => C | missense | 2.476e-05 | 3 | 121160 | 0 | 0.0 | 0.993 | GP (contact) |
5ht4r_human | 247 | ICL3 | S => N | missense | 6.603e-05 | 8 | 121152 | 0 | 0.44 | 0.008 | ||
5ht4r_human | 246 | ICL3 | H => R | missense | 8.255e-06 | 1 | 121146 | 0 | 0.27 | 0.036 | ||
5ht4r_human | 246 | ICL3 | H => Y | missense | 8.254e-06 | 1 | 121148 | 0 | 0.01 | 0.745 | ||
5ht4r_human | 244 | ICL3 | D => E | missense | 8.254e-06 | 1 | 121154 | 0 | 0.31 | 0.02 | ||
5ht4r_human | 243 | ICL3 | A => S | missense | 4.128e-05 | 5 | 121120 | 0 | 0.63 | 0.023 | ||
5ht4r_human | 242 | ICL3 | S => L | missense | 2.477e-05 | 3 | 121134 | 0 | 0.17 | 0.108 | ||
5ht4r_human | 237 | ICL3 | E => K | missense | 0.0001816 | 22 | 121126 | 0 | 0.39 | 0.166 | ||
5ht4r_human | 232 | 5.78x78 | TM5 | A => S | missense | 2.477e-05 | 3 | 121118 | 0 | 0.05 | 0.783 | |
5ht4r_human | 231 | 5.77x77 | TM5 | R => Q | missense | 1.651e-05 | 2 | 121114 | 0 | 0.04 | 0.842 | |
5ht4r_human | 231 | 5.77x77 | TM5 | R => W | missense | 0.0001899 | 23 | 121102 | 0 | 0.0 | 0.996 | |
5ht4r_human | 230 | 5.76x76 | TM5 | Q => R | missense | 8.256e-06 | 1 | 121122 | 0 | 0.0 | 0.881 | |
5ht4r_human | 228 | 5.74x74 | TM5 | M => I | missense | 1.651e-05 | 2 | 121106 | 0 | 0.22 | 0.005 | GP (contact) |
5ht4r_human | 228 | 5.74x74 | TM5 | M => T | missense | 8.258e-06 | 1 | 121102 | 0 | 0.76 | 0.012 | GP (contact) |
5ht4r_human | 218 | 5.64x64 | TM5 | T => I | missense | 8.263e-06 | 1 | 121016 | 0 | 0.02 | 0.844 | GP (contact) |
5ht4r_human | 217 | 5.63x63 | TM5 | V => I | missense | 8.265e-06 | 1 | 120990 | 0 | 0.29 | 0.03 | |
5ht4r_human | 216 | 5.62x62 | TM5 | Y => C | missense | 8.266e-06 | 1 | 120976 | 0 | 0.0 | 0.999 | |
5ht4r_human | 214 | 5.60x60 | TM5 | R => H | missense | 2.481e-05 | 3 | 120918 | 0 | 0.0 | 0.994 | |
5ht4r_human | 214 | 5.60x60 | TM5 | R => C | missense | 4.962e-05 | 6 | 120912 | 0 | 0.0 | 0.997 | |
5ht4r_human | 208 | 5.54x54 | TM5 | M => V | missense | 8.282e-06 | 1 | 120746 | 0 | 0.0 | 0.944 | |
5ht4r_human | 204 | 5.50x50 | TM5 | P => L | missense | 8.29e-06 | 1 | 120620 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
5ht4r_human | 203 | 5.49x49 | TM5 | I => F | missense | 8.293e-06 | 1 | 120580 | 0 | 0.02 | 0.071 | |
5ht4r_human | 200 | 5.46x461 | TM5 | A => V | missense | 8.307e-06 | 1 | 120386 | 0 | 0.0 | 0.998 | |
5ht4r_human | 199 | 5.45x46 | TM5 | V => A | missense | 8.312e-06 | 1 | 120304 | 0 | 0.0 | 0.973 | LB (Van der Waals) |
5ht4r_human | 195 | 5.41x42 | TM5 | T => I | missense | 1.668e-05 | 2 | 119922 | 0 | 0.7 | 0.071 | LB (polar (hydrogen bond with backbone), Van der Waals, polar (hydrogen bond)) |
5ht4r_human | 191 | 5.37x38 | TM5 | P => H | missense | 8.387e-06 | 1 | 119238 | 0 | 0.01 | 0.997 | LB (Van der Waals, polar (hydrogen bond)) |
5ht4r_human | 191 | 5.37x38 | TM5 | P => T | missense | 8.389e-06 | 1 | 119198 | 0 | 0.13 | 0.99 | LB (Van der Waals, polar (hydrogen bond)) |
5ht4r_human | 187 | ECL2 | M => T | missense | 9.323e-05 | 11 | 117986 | 0 | 0.0 | 0.9 | ||
5ht4r_human | 187 | ECL2 | M => L | missense | 8.477e-06 | 1 | 117968 | 0 | 0.88 | 0.042 | ||
5ht4r_human | 183 | ECL2 | Y => H | missense | 1.732e-05 | 2 | 115462 | 0 | 0.41 | 0.024 | ||
5ht4r_human | 182 | ECL2 | T => M | missense | 0.0002433 | 28 | 115106 | 0 | 0.06 | 0.99 | ||
5ht4r_human | 182 | ECL2 | T => A | missense | 8.745e-06 | 1 | 114354 | 0 | 0.09 | 0.771 | ||
5ht4r_human | 177 | ECL2 | Q => H | missense | 9.103e-06 | 1 | 109854 | 0 | 0.18 | 0.008 | ||
5ht4r_human | 174 | ECL2 | K => T | missense | 2.856e-05 | 3 | 105054 | 0 | 0.17 | 0.568 | ||
5ht4r_human | 173 | ECL2 | R => K | missense | 7.692e-05 | 8 | 104004 | 0 | 0.17 | 0.348 | ||
5ht4r_human | 172 | ECL2 | K => R | missense | 9.744e-06 | 1 | 102630 | 0 | 0.33 | 0.038 | ||
5ht4r_human | 158 | 4.62x62 | TM4 | M => T | missense | 8.263e-06 | 1 | 121026 | 0 | 0.0 | 0.735 | |
5ht4r_human | 150 | 4.54x54 | TM4 | T => M | missense | 5.786e-05 | 7 | 120986 | 0 | 0.27 | 0.044 | |
5ht4r_human | 149 | 4.53x53 | TM4 | P => S | missense | 1.653e-05 | 2 | 120980 | 0 | 0.05 | 1.0 | |
5ht4r_human | 148 | 4.52x52 | TM4 | I => V | missense | 8.265e-06 | 1 | 120988 | 0 | 0.31 | 0.091 | |
5ht4r_human | 143 | 4.47x47 | TM4 | G => V | missense | 8.268e-06 | 1 | 120944 | 0 | 0.4 | 0.091 | |
5ht4r_human | 140 | 4.44x44 | TM4 | L => S | missense | 8.273e-06 | 1 | 120878 | 0 | 0.0 | 0.597 | |
5ht4r_human | 139 | 4.43x43 | TM4 | A => T | missense | 8.276e-06 | 1 | 120830 | 0 | 0.22 | 0.08 | |
5ht4r_human | 137 | 4.41x41 | TM4 | R => H | missense | 4.14e-05 | 5 | 120774 | 0 | 0.03 | 0.189 | |
5ht4r_human | 137 | 4.41x41 | TM4 | R => P | missense | 8.28e-06 | 1 | 120774 | 0 | 0.01 | 0.979 | |
5ht4r_human | 137 | 4.41x41 | TM4 | R => C | missense | 1.656e-05 | 2 | 120782 | 0 | 0.0 | 0.973 | |
5ht4r_human | 135 | 4.39x39 | TM4 | P => R | missense | 8.282e-06 | 1 | 120750 | 0 | 0.22 | 0.962 | |
5ht4r_human | 131 | 34.55x55 | ICL2 | N => K | missense | 8.293e-06 | 1 | 120588 | 0 | 0.28 | 0.232 | GP (contact) |
5ht4r_human | 123 | 3.55x55 | TM3 | C => W | missense | 8.356e-06 | 1 | 119670 | 0 | 0.0 | 1.0 | GP (contact) |
5ht4r_human | 121 | 3.53x53 | TM3 | A => T | missense | 8.399e-06 | 1 | 119064 | 0 | 0.0 | 0.984 | GP (contact) |
5ht4r_human | 117 | 3.49x49 | TM3 | D => G | missense | 1.636e-05 | 1 | 61124 | 0 | 0.0 | 0.994 | SodiumPocket MicroSwitch |
5ht4r_human | 107 | 3.39x39 | TM3 | S => L | missense | 1.245e-05 | 1 | 80290 | 0 | 0.0 | 1.0 | |
5ht4r_human | 105 | 3.37x37 | TM3 | T => M | missense | 2.319e-05 | 2 | 86236 | 0 | 0.0 | 1.0 | |
5ht4r_human | 96 | 3.28x28 | TM3 | R => Q | missense | 9.686e-06 | 1 | 103240 | 0 | 0.15 | 0.984 | |
5ht4r_human | 96 | 3.28x28 | TM3 | R => W | missense | 9.596e-06 | 1 | 104214 | 0 | 0.22 | 0.534 | |
5ht4r_human | 95 | 3.27x27 | TM3 | V => I | missense | 9.386e-06 | 1 | 106536 | 0 | 0.35 | 0.107 | |
5ht4r_human | 93 | 3.25x25 | TM3 | C => R | missense | 9.067e-06 | 1 | 110288 | 0 | 0.0 | 1.0 | |
5ht4r_human | 92 | 3.24x24 | TM3 | F => C | missense | 8.994e-06 | 1 | 111190 | 0 | 0.0 | 0.998 | |
5ht4r_human | 88 | 23.52x52 | ECL1 | Y => H | missense | 8.62e-06 | 1 | 116006 | 0 | 0.05 | 0.733 | |
5ht4r_human | 85 | 23.49x49 | ECL1 | I => V | missense | 8.431e-06 | 1 | 118604 | 0 | 0.5 | 0.004 | |
5ht4r_human | 77 | 2.61x60 | TM2 | G => R | missense | 1.662e-05 | 2 | 120366 | 0 | 0.0 | 0.992 | |
5ht4r_human | 75 | 2.59x58 | TM2 | P => T | missense | 8.303e-06 | 1 | 120436 | 0 | 0.05 | 0.545 | |
5ht4r_human | 71 | 2.55x55 | TM2 | V => A | missense | 8.305e-06 | 1 | 120416 | 0 | 0.0 | 0.578 | |
5ht4r_human | 70 | 2.54x54 | TM2 | S => L | missense | 8.312e-06 | 1 | 120312 | 0 | 0.0 | 0.806 | |
5ht4r_human | 65 | 2.49x49 | TM2 | A => V | missense | 2.508e-05 | 3 | 119628 | 0 | 0.0 | 1.0 | |
5ht4r_human | 65 | 2.49x49 | TM2 | A => E | missense | 8.359e-06 | 1 | 119628 | 0 | 0.0 | 1.0 | |
5ht4r_human | 62 | 2.46x46 | TM2 | L => P | missense | 8.435e-06 | 1 | 118548 | 0 | 0.0 | 1.0 | |
5ht4r_human | 44 | 1.57x57 | TM1 | V => M | missense | 8.268e-06 | 1 | 120954 | 0 | 0.0 | 0.995 | |
5ht4r_human | 42 | 1.55x55 | TM1 | V => A | missense | 8.262e-06 | 1 | 121040 | 0 | 0.11 | 0.585 | |
5ht4r_human | 32 | 1.45x45 | TM1 | M => T | missense | 8.245e-06 | 1 | 121282 | 0 | 0.15 | 0.669 | |
5ht4r_human | 27 | 1.40x40 | TM1 | S => L | missense | 0.0001979 | 24 | 121294 | 0 | 0.08 | 0.265 | |
5ht4r_human | 24 | 1.37x37 | TM1 | T => M | missense | 0.0002556 | 31 | 121302 | 0 | 0.23 | 0.025 | |
5ht4r_human | 16 | N-term | S => T | missense | 1.649e-05 | 2 | 121290 | 0 | 0.42 | 0.098 | ||
5ht4r_human | 15 | N-term | G => R | missense | 0.0008081 | 98 | 121276 | 1 | 0.15 | 0.006 | ||
5ht4r_human | 9 | N-term | S => N | missense | 8.265e-06 | 1 | 120992 | 0 | 0.05 | 0.005 | ||
5ht4r_human | 7 | N-term | N => K | missense | 8.262e-06 | 1 | 121030 | 0 | nan | 0.055 | ||
5ht4r_human | 7 | N-term | N => K | missense | 1.652e-05 | 2 | 121030 | 0 | nan | 0.055 | ||
5ht4r_human | 5 | N-term | D => E | missense | 8.261e-06 | 1 | 121052 | 0 | nan | 0.005 |
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