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 |
hrh1_human | 10 | N-term | L => Ter | stop gained | 8.588e-06 | 1 | 116438 | 0 | None | None | ||
hrh1_human | 176 | ECL2 | R => Ter | stop gained | 8.238e-06 | 1 | 121394 | 0 | None | None | ||
hrh1_human | 281 | ICL3 | K => Ter | stop gained | 8.258e-06 | 1 | 121096 | 0 | None | None | ||
hrh1_human | 363 | ICL3 | S => Ter | stop gained | 8.252e-06 | 1 | 121190 | 0 | None | None | ||
hrh1_human | 445 | ECL3 | C => Ter | stop gained | 8.241e-06 | 1 | 121350 | 0 | None | None | ||
hrh1_human | 455 | 7.40x39 | TM7 | W => Ter | stop gained | 8.245e-06 | 1 | 121280 | 0 | None | None | |
hrh1_human | 14 | N-term | M => T | missense | 8.489e-06 | 1 | 117796 | 0 | nan | 0.776 | ||
hrh1_human | 14 | N-term | M => I | missense | 0.001026 | 121 | 117952 | 0 | nan | 0.091 | ||
hrh1_human | 18 | N-term | N => H | missense | 8.39e-06 | 1 | 119196 | 0 | 0.01 | 0.99 | ||
hrh1_human | 19 | N-term | K => N | missense | 0.004356 | 522 | 119824 | 1 | 0.29 | 0.118 | ||
hrh1_human | 22 | N-term | M => V | missense | 6.644e-05 | 8 | 120414 | 0 | 0.34 | 0.0 | ||
hrh1_human | 24 | N-term | S => G | missense | 8.278e-06 | 1 | 120796 | 0 | 0.09 | 0.002 | ||
hrh1_human | 26 | N-term | Q => L | missense | 8.258e-06 | 1 | 121090 | 0 | 0.02 | 0.411 | ||
hrh1_human | 31 | 1.36x36 | TM1 | V => L | missense | 8.246e-06 | 1 | 121272 | 0 | 0.15 | 0.231 | |
hrh1_human | 34 | 1.39x39 | TM1 | L => P | missense | 8.244e-06 | 1 | 121304 | 0 | 0.0 | 0.994 | |
hrh1_human | 48 | 1.53x53 | TM1 | V => A | missense | 8.24e-06 | 1 | 121352 | 0 | 0.0 | 1.0 | |
hrh1_human | 50 | 1.55x55 | TM1 | Y => H | missense | 8.24e-06 | 1 | 121360 | 0 | 0.42 | 0.201 | |
hrh1_human | 52 | 1.57x57 | TM1 | V => I | missense | 2.472e-05 | 3 | 121348 | 0 | 0.07 | 0.451 | |
hrh1_human | 53 | 1.58x58 | TM1 | R => W | missense | 1.648e-05 | 2 | 121350 | 0 | 0.03 | 0.993 | |
hrh1_human | 53 | 1.58x58 | TM1 | R => Q | missense | 0.0002555 | 31 | 121342 | 0 | 0.02 | 0.382 | |
hrh1_human | 56 | 12.48x48 | ICL1 | R => W | missense | 3.297e-05 | 4 | 121332 | 0 | 0.0 | 0.999 | |
hrh1_human | 56 | 12.48x48 | ICL1 | R => Q | missense | 8.241e-06 | 1 | 121340 | 0 | 0.01 | 0.984 | |
hrh1_human | 62 | 2.39x39 | TM2 | G => E | missense | 8.242e-06 | 1 | 121324 | 0 | 0.0 | 0.999 | |
hrh1_human | 63 | 2.40x40 | TM2 | N => K | missense | 8.243e-06 | 1 | 121318 | 0 | 0.0 | 1.0 | |
hrh1_human | 66 | 2.43x43 | TM2 | I => V | missense | 2.473e-05 | 3 | 121312 | 0 | 0.02 | 1.0 | |
hrh1_human | 67 | 2.44x44 | TM2 | V => I | missense | 2.474e-05 | 3 | 121284 | 0 | 0.08 | 0.573 | |
hrh1_human | 70 | 2.47x47 | TM2 | S => L | missense | 8.248e-06 | 1 | 121244 | 0 | 0.0 | 0.997 | PTM (Phosphorylation) |
hrh1_human | 76 | 2.53x53 | TM2 | V => M | missense | 2.474e-05 | 3 | 121244 | 0 | 0.0 | 0.999 | |
hrh1_human | 79 | 2.56x551 | TM2 | V => I | missense | 0.0002062 | 25 | 121252 | 2 | 0.16 | 0.021 | |
hrh1_human | 85 | 2.62x61 | TM2 | I => T | missense | 8.245e-06 | 1 | 121284 | 0 | 0.0 | 0.842 | |
hrh1_human | 90 | 2.67x66 | TM2 | M => T | missense | 8.243e-06 | 1 | 121314 | 0 | 0.48 | 0.008 | |
hrh1_human | 97 | 3.22x22 | TM3 | R => H | missense | 4.945e-05 | 6 | 121332 | 0 | 0.43 | 0.052 | |
hrh1_human | 99 | 3.24x24 | TM3 | L => F | missense | 8.242e-06 | 1 | 121334 | 0 | 0.11 | 0.985 | |
hrh1_human | 118 | 3.43x43 | TM3 | V => I | missense | 0.0003297 | 40 | 121328 | 0 | 0.05 | 0.068 | |
hrh1_human | 127 | 3.52x52 | TM3 | R => C | missense | 1.649e-05 | 2 | 121274 | 0 | 0.0 | 1.0 | |
hrh1_human | 127 | 3.52x52 | TM3 | R => H | missense | 2.474e-05 | 3 | 121266 | 0 | 0.02 | 0.909 | |
hrh1_human | 133 | 34.51x51 | ICL2 | L => F | missense | 8.245e-06 | 1 | 121284 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 134 | 34.52x52 | ICL2 | R => M | missense | 8.246e-06 | 1 | 121270 | 0 | 0.0 | 0.928 | GP (contact) |
hrh1_human | 139 | 34.57x57 | ICL2 | R => C | missense | 8.248e-06 | 1 | 121246 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 139 | 34.57x57 | ICL2 | R => H | missense | 5.772e-05 | 7 | 121276 | 1 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 143 | 4.41x41 | TM4 | R => G | missense | 8.246e-06 | 1 | 121278 | 0 | 0.0 | 0.992 | |
hrh1_human | 143 | 4.41x41 | TM4 | R => Q | missense | 0.0001237 | 15 | 121302 | 0 | 0.05 | 0.7 | |
hrh1_human | 145 | 4.43x43 | TM4 | S => L | missense | 2.474e-05 | 3 | 121276 | 0 | 0.18 | 0.055 | |
hrh1_human | 147 | 4.45x45 | TM4 | T => A | missense | 1.649e-05 | 2 | 121268 | 0 | 0.02 | 0.696 | |
hrh1_human | 151 | 4.49x49 | TM4 | A => T | missense | 8.242e-06 | 1 | 121336 | 0 | 0.05 | 0.708 | |
hrh1_human | 153 | 4.51x51 | TM4 | F => S | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 0.208 | |
hrh1_human | 164 | 4.62x63 | TM4 | G => A | missense | 8.238e-06 | 1 | 121396 | 0 | 0.05 | 0.802 | |
hrh1_human | 173 | ECL2 | S => L | missense | 8.237e-06 | 1 | 121398 | 0 | 0.18 | 0.005 | ||
hrh1_human | 174 | ECL2 | V => M | missense | 1.647e-05 | 2 | 121398 | 0 | 0.11 | 0.094 | ||
hrh1_human | 175 | ECL2 | R => C | missense | 2.471e-05 | 3 | 121392 | 0 | 0.14 | 0.001 | ||
hrh1_human | 175 | ECL2 | R => H | missense | 3.295e-05 | 4 | 121390 | 0 | 0.41 | 0.0 | ||
hrh1_human | 176 | ECL2 | R => Q | missense | 4.943e-05 | 6 | 121396 | 0 | 0.51 | 0.009 | ||
hrh1_human | 177 | ECL2 | E => K | missense | 8.238e-06 | 1 | 121396 | 0 | 0.21 | 0.03 | ||
hrh1_human | 184 | ECL2 | F => C | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 1.0 | ||
hrh1_human | 188 | 5.36x37 | TM5 | T => I | missense | 8.238e-06 | 1 | 121388 | 0 | 0.0 | 0.934 | |
hrh1_human | 194 | 5.42x43 | TM5 | T => A | missense | 8.239e-06 | 1 | 121374 | 0 | 0.09 | 0.889 | LB (Van der Waals) |
hrh1_human | 196 | 5.44x45 | TM5 | I => V | missense | 0.0001236 | 15 | 121372 | 0 | 0.3 | 0.456 | |
hrh1_human | 205 | 5.53x53 | TM5 | L => F | missense | 8.241e-06 | 1 | 121348 | 0 | 0.0 | 0.967 | |
hrh1_human | 209 | 5.57x57 | TM5 | F => L | missense | 8.242e-06 | 1 | 121334 | 0 | 0.08 | 0.387 | |
hrh1_human | 210 | 5.58x58 | TM5 | Y => C | missense | 1.648e-05 | 2 | 121326 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
hrh1_human | 213 | 5.61x61 | TM5 | I => M | missense | 1.649e-05 | 2 | 121282 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 217 | 5.65x65 | TM5 | V => I | missense | 8.248e-06 | 1 | 121236 | 0 | 0.0 | 0.97 | GP (contact) |
hrh1_human | 218 | 5.66x66 | TM5 | R => Q | missense | 8.25e-06 | 1 | 121212 | 0 | 0.11 | 0.379 | GP (contact) |
hrh1_human | 220 | 5.68x68 | TM5 | H => R | missense | 8.251e-06 | 1 | 121202 | 0 | 0.0 | 0.923 | GP (contact) |
hrh1_human | 222 | 5.70x70 | TM5 | Q => H | missense | 8.254e-06 | 1 | 121152 | 0 | 0.0 | 0.981 | |
hrh1_human | 223 | 5.71x71 | TM5 | H => R | missense | 8.254e-06 | 1 | 121148 | 0 | 0.03 | 0.71 | GP (contact) |
hrh1_human | 224 | 5.72x72 | TM5 | R => W | missense | 8.255e-05 | 10 | 121136 | 0 | 0.0 | 0.914 | GP (contact) |
hrh1_human | 224 | 5.72x72 | TM5 | R => Q | missense | 0.0002889 | 35 | 121134 | 0 | 0.0 | 0.959 | GP (contact) |
hrh1_human | 229 | ICL3 | R => S | missense | 8.264e-06 | 1 | 121012 | 0 | 0.09 | 0.003 | ||
hrh1_human | 231 | ICL3 | L => F | missense | 8.266e-06 | 1 | 120978 | 0 | 0.7 | 0.006 | ||
hrh1_human | 238 | ICL3 | K => R | missense | 8.287e-06 | 1 | 120674 | 0 | 0.14 | 0.056 | PTM (Ubiquitylation) | |
hrh1_human | 242 | ICL3 | E => D | missense | 1.66e-05 | 2 | 120486 | 0 | 0.22 | 0.01 | ||
hrh1_human | 243 | ICL3 | N => I | missense | 8.301e-06 | 1 | 120472 | 0 | 0.04 | 0.076 | ||
hrh1_human | 245 | ICL3 | K => R | missense | 7.474e-05 | 9 | 120416 | 0 | 0.31 | 0.015 | ||
hrh1_human | 246 | ICL3 | G => E | missense | 8.306e-06 | 1 | 120388 | 0 | 1.0 | 0.002 | ||
hrh1_human | 248 | ICL3 | A => T | missense | 8.309e-06 | 1 | 120358 | 0 | 0.53 | 0.002 | ||
hrh1_human | 258 | ICL3 | E => D | missense | 8.303e-06 | 1 | 120434 | 0 | 0.54 | 0.015 | ||
hrh1_human | 264 | ICL3 | P => A | missense | 8.289e-06 | 1 | 120648 | 0 | 0.58 | 0.002 | ||
hrh1_human | 270 | ICL3 | G => R | missense | 8.272e-06 | 1 | 120884 | 0 | 0.54 | 0.015 | ||
hrh1_human | 270 | ICL3 | G => E | missense | 0.004516 | 546 | 120904 | 17 | 0.96 | 0.006 | ||
hrh1_human | 276 | ICL3 | P => L | missense | 1.653e-05 | 2 | 121010 | 0 | 0.32 | 0.006 | ||
hrh1_human | 286 | ICL3 | P => S | missense | 8.254e-06 | 1 | 121154 | 0 | 0.47 | 0.088 | ||
hrh1_human | 286 | ICL3 | P => A | missense | 8.254e-06 | 1 | 121154 | 0 | 0.28 | 0.076 | ||
hrh1_human | 288 | ICL3 | V => F | missense | 8.252e-06 | 1 | 121186 | 0 | 0.7 | 0.006 | ||
hrh1_human | 294 | ICL3 | D => V | missense | 8.247e-06 | 1 | 121260 | 0 | 0.08 | 0.025 | ||
hrh1_human | 294 | ICL3 | D => G | missense | 8.247e-06 | 1 | 121260 | 0 | 0.33 | 0.01 | ||
hrh1_human | 295 | ICL3 | R => K | missense | 4.123e-05 | 5 | 121266 | 0 | 0.92 | 0.004 | ||
hrh1_human | 302 | ICL3 | C => F | missense | 8.241e-06 | 1 | 121346 | 0 | 0.08 | 0.202 | ||
hrh1_human | 307 | ICL3 | I => V | missense | 8.239e-06 | 1 | 121372 | 0 | 0.67 | 0.01 | ||
hrh1_human | 310 | ICL3 | M => V | missense | 8.239e-06 | 1 | 121370 | 0 | 0.28 | 0.002 | ||
hrh1_human | 310 | ICL3 | M => I | missense | 8.239e-06 | 1 | 121374 | 0 | 0.2 | 0.002 | ||
hrh1_human | 313 | ICL3 | A => V | missense | 0.0002307 | 28 | 121376 | 0 | 0.37 | 0.002 | ||
hrh1_human | 317 | ICL3 | S => C | missense | 0.000313 | 38 | 121392 | 0 | 0.05 | 0.025 | ||
hrh1_human | 319 | ICL3 | R => G | missense | 2.471e-05 | 3 | 121390 | 0 | 0.32 | 0.01 | ||
hrh1_human | 320 | ICL3 | D => V | missense | 8.238e-06 | 1 | 121394 | 0 | 0.2 | 0.079 | ||
hrh1_human | 321 | ICL3 | Y => N | missense | 8.238e-06 | 1 | 121394 | 0 | 0.28 | 0.078 | PTM (Phosphorylation) | |
hrh1_human | 321 | ICL3 | Y => C | missense | 2.471e-05 | 3 | 121390 | 0 | 0.21 | 0.01 | PTM (Phosphorylation) | |
hrh1_human | 323 | ICL3 | A => S | missense | 8.238e-06 | 1 | 121392 | 0 | 0.74 | 0.009 | ||
hrh1_human | 324 | ICL3 | V => I | missense | 0.0004036 | 49 | 121396 | 0 | 0.36 | 0.01 | ||
hrh1_human | 325 | ICL3 | N => S | missense | 8.237e-06 | 1 | 121400 | 0 | 0.58 | 0.005 | ||
hrh1_human | 326 | ICL3 | R => W | missense | 4.943e-05 | 6 | 121392 | 0 | 0.0 | 0.018 | ||
hrh1_human | 326 | ICL3 | R => Q | missense | 0.001969 | 239 | 121396 | 4 | 0.66 | 0.003 | ||
hrh1_human | 334 | ICL3 | D => N | missense | 1.648e-05 | 2 | 121392 | 0 | 0.28 | 0.017 | ||
hrh1_human | 334 | ICL3 | D => Y | missense | 8.238e-06 | 1 | 121392 | 0 | 0.01 | 0.827 | ||
hrh1_human | 334 | ICL3 | D => G | missense | 3.295e-05 | 4 | 121392 | 0 | 0.24 | 0.005 | ||
hrh1_human | 337 | ICL3 | G => S | missense | 2.471e-05 | 3 | 121386 | 0 | 0.79 | 0.003 | ||
hrh1_human | 337 | ICL3 | G => D | missense | 8.239e-06 | 1 | 121380 | 0 | 0.63 | 0.007 | ||
hrh1_human | 340 | ICL3 | T => S | missense | 8.239e-06 | 1 | 121376 | 0 | 0.7 | 0.079 | ||
hrh1_human | 345 | ICL3 | E => K | missense | 6.593e-05 | 8 | 121350 | 0 | 0.42 | 0.027 | ||
hrh1_human | 345 | ICL3 | E => V | missense | 8.24e-06 | 1 | 121352 | 0 | 0.13 | 0.17 | ||
hrh1_human | 346 | ICL3 | I => K | missense | 8.24e-06 | 1 | 121352 | 0 | 0.91 | 0.004 | ||
hrh1_human | 349 | ICL3 | D => H | missense | 0.001558 | 189 | 121320 | 2 | 0.13 | 0.764 | ||
hrh1_human | 353 | ICL3 | G => S | missense | 8.244e-06 | 1 | 121300 | 0 | 0.56 | 0.032 | ||
hrh1_human | 354 | ICL3 | D => E | missense | 8.245e-06 | 1 | 121284 | 0 | 0.27 | 0.01 | ||
hrh1_human | 356 | ICL3 | Q => R | missense | 2.474e-05 | 3 | 121270 | 0 | 0.49 | 0.071 | ||
hrh1_human | 360 | ICL3 | R => Q | missense | 1.65e-05 | 2 | 121204 | 0 | 0.35 | 0.007 | ||
hrh1_human | 361 | ICL3 | T => M | missense | 2.475e-05 | 3 | 121210 | 0 | 0.08 | 0.126 | ||
hrh1_human | 363 | ICL3 | S => P | missense | 0.0006849 | 83 | 121194 | 0 | 0.11 | 0.015 | ||
hrh1_human | 364 | ICL3 | D => G | missense | 8.252e-06 | 1 | 121190 | 0 | 0.19 | 0.257 | ||
hrh1_human | 368 | ICL3 | E => G | missense | 1.65e-05 | 2 | 121176 | 0 | 0.14 | 0.015 | ||
hrh1_human | 371 | ICL3 | P => S | missense | 8.254e-06 | 1 | 121148 | 0 | 0.77 | 0.003 | ||
hrh1_human | 377 | ICL3 | R => S | missense | 8.255e-06 | 1 | 121132 | 0 | 0.36 | 0.124 | ||
hrh1_human | 378 | ICL3 | S => N | missense | 8.255e-06 | 1 | 121136 | 0 | 0.69 | 0.004 | PTM (Phosphorylation) | |
hrh1_human | 379 | ICL3 | G => R | missense | 0.0001733 | 21 | 121144 | 0 | 0.57 | 0.002 | ||
hrh1_human | 379 | ICL3 | G => E | missense | 2.477e-05 | 3 | 121128 | 0 | 1.0 | 0.002 | ||
hrh1_human | 386 | ICL3 | Y => H | missense | 8.255e-06 | 1 | 121136 | 0 | 0.09 | 0.986 | PTM (Phosphorylation) | |
hrh1_human | 388 | ICL3 | K => E | missense | 8.255e-06 | 1 | 121140 | 0 | 0.0 | 0.886 | ||
hrh1_human | 395 | ICL3 | R => C | missense | 4.127e-05 | 5 | 121154 | 0 | 0.12 | 0.212 | ||
hrh1_human | 395 | ICL3 | R => S | missense | 8.254e-06 | 1 | 121154 | 0 | 0.16 | 0.927 | ||
hrh1_human | 395 | ICL3 | R => H | missense | 1.651e-05 | 2 | 121152 | 0 | 0.37 | 0.212 | ||
hrh1_human | 396 | ICL3 | S => P | missense | 8.254e-06 | 1 | 121160 | 0 | 0.02 | 0.702 | PTM (Phosphorylation) | |
hrh1_human | 396 | ICL3 | S => W | missense | 8.254e-06 | 1 | 121160 | 0 | 0.0 | 0.948 | PTM (Phosphorylation) | |
hrh1_human | 401 | ICL3 | Y => C | missense | 1.65e-05 | 2 | 121198 | 0 | 0.13 | 0.06 | PTM (Phosphorylation) | |
hrh1_human | 409 | 6.29x29 | TM6 | R => C | missense | 8.249e-06 | 1 | 121230 | 0 | 0.0 | 0.996 | GP (contact) |
hrh1_human | 409 | 6.29x29 | TM6 | R => H | missense | 1.65e-05 | 2 | 121228 | 0 | 0.0 | 0.996 | GP (contact) |
hrh1_human | 410 | 6.30x30 | TM6 | E => K | missense | 3.299e-05 | 4 | 121242 | 0 | 0.0 | 0.996 | SodiumPocket MicroSwitch |
hrh1_human | 412 | 6.32x32 | TM6 | K => N | missense | 8.246e-06 | 1 | 121276 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 414 | 6.34x34 | TM6 | A => T | missense | 8.246e-06 | 1 | 121266 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
hrh1_human | 415 | 6.35x35 | TM6 | K => R | missense | 8.244e-06 | 1 | 121300 | 0 | 0.13 | 0.434 | |
hrh1_human | 416 | 6.36x36 | TM6 | Q => L | missense | 8.243e-06 | 1 | 121310 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 417 | 6.37x37 | TM6 | L => F | missense | 8.244e-06 | 1 | 121306 | 0 | 0.0 | 1.0 | GP (contact) |
hrh1_human | 422 | 6.42x42 | TM6 | A => V | missense | 4.946e-05 | 6 | 121302 | 0 | 0.06 | 0.169 | |
hrh1_human | 433 | 6.53x53 | TM6 | I => V | missense | 8.241e-06 | 1 | 121338 | 0 | 1.0 | 0.022 | |
hrh1_human | 437 | 6.57x57 | TM6 | V => F | missense | 0.0001154 | 14 | 121348 | 0 | 0.0 | 0.999 | |
hrh1_human | 438 | 6.58x58 | TM6 | I => V | missense | 1.648e-05 | 2 | 121348 | 0 | 0.1 | 0.042 | |
hrh1_human | 438 | 6.58x58 | TM6 | I => T | missense | 8.241e-06 | 1 | 121348 | 0 | 0.1 | 0.189 | |
hrh1_human | 441 | 6.61x61 | TM6 | C => Y | missense | 8.24e-06 | 1 | 121354 | 0 | 0.08 | 0.995 | |
hrh1_human | 442 | ECL3 | K => E | missense | 2.472e-05 | 3 | 121352 | 0 | 0.84 | 0.004 | ||
hrh1_human | 446 | 7.31x30 | TM7 | N => D | missense | 8.241e-06 | 1 | 121348 | 0 | 0.2 | 0.142 | |
hrh1_human | 446 | 7.31x30 | TM7 | N => S | missense | 8.241e-05 | 10 | 121346 | 0 | 0.42 | 0.034 | |
hrh1_human | 448 | 7.33x32 | TM7 | H => R | missense | 8.241e-06 | 1 | 121342 | 0 | 0.43 | 0.002 | |
hrh1_human | 453 | 7.38x37 | TM7 | T => S | missense | 8.243e-06 | 1 | 121310 | 0 | 0.0 | 0.996 | |
hrh1_human | 455 | 7.40x39 | TM7 | W => C | missense | 8.246e-06 | 1 | 121266 | 0 | 0.0 | 1.0 | |
hrh1_human | 468 | 7.53x53 | TM7 | Y => D | missense | 8.353e-06 | 1 | 119716 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
hrh1_human | 469 | 7.54x54 | TM7 | P => R | missense | 8.374e-06 | 1 | 119412 | 0 | 0.0 | 0.998 | |
hrh1_human | 475 | 8.50x50 | H8 | F => S | missense | 8.504e-06 | 1 | 117592 | 0 | 0.0 | 1.0 | |
hrh1_human | 477 | 8.52x52 | H8 | K => T | missense | 1.712e-05 | 2 | 116822 | 0 | 0.02 | 0.566 | |
hrh1_human | 479 | 8.54x54 | H8 | F => S | missense | 1.719e-05 | 2 | 116320 | 0 | 0.0 | 1.0 | |
hrh1_human | 486 | C-term | R => G | missense | 2.634e-05 | 3 | 113892 | 0 | 0.08 | 0.012 | ||
hrh1_human | 486 | C-term | R => H | missense | 8.804e-06 | 1 | 113588 | 0 | 0.39 | 0.004 |
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