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 |
smo_human | 206 | N-term | W => Ter | stop gained | 8.278e-06 | 1 | 120796 | 0 | None | None | ||
smo_human | 256 | 12.47x47 | ICL1 | W => Ter | stop gained | 8.25e-06 | 1 | 121210 | 0 | None | None | |
smo_human | 331 | 3.42x42 | TM3 | W => GlyfsTer56 | frameshift | 8.265e-06 | 1 | 120986 | 0 | None | None | |
smo_human | 426 | 5.69x69 | TM5 | L => ValfsTer13 | frameshift | 8.522e-06 | 1 | 117344 | 0 | None | None | GP (contact) |
smo_human | 670 | C-term | G => AlafsTer106 | frameshift | 2.449e-05 | 1 | 40840 | 0 | None | None | ||
smo_human | 726 | C-term | R => Ter | stop gained | 1.546e-05 | 1 | 64698 | 0 | None | None | ||
smo_human | 54 | N-term | V => M | missense | 0.0004078 | 2 | 4904 | 0 | nan | 0.608 | ||
smo_human | 60 | N-term | P => L | missense | 0.0004136 | 4 | 9672 | 1 | 0.4 | 0.086 | ||
smo_human | 68 | N-term | A => G | missense | 0.001316 | 14 | 10640 | 0 | 0.17 | 0.027 | ||
smo_human | 89 | N-term | S => C | missense | 8.724e-05 | 1 | 11462 | 0 | 0.0 | 0.981 | ||
smo_human | 107 | N-term | V => L | missense | 8.718e-05 | 1 | 11470 | 0 | 0.85 | 0.01 | ||
smo_human | 113 | N-term | R => Q | missense | 5.502e-05 | 1 | 18174 | 0 | 0.09 | 0.49 | ||
smo_human | 129 | N-term | V => I | missense | 0.0001719 | 4 | 23270 | 0 | 0.17 | 0.106 | ||
smo_human | 138 | N-term | R => Q | missense | 0.0001237 | 4 | 32342 | 0 | 0.65 | 0.022 | ||
smo_human | 144 | N-term | R => H | missense | 0.000153 | 7 | 45758 | 0 | 0.18 | 0.148 | ||
smo_human | 152 | N-term | G => R | missense | 1.349e-05 | 1 | 74124 | 0 | 0.3 | 0.048 | ||
smo_human | 153 | N-term | P => S | missense | 1.284e-05 | 1 | 77906 | 0 | 0.0 | 0.989 | ||
smo_human | 156 | N-term | I => V | missense | 1.142e-05 | 1 | 87574 | 0 | 0.08 | 0.401 | ||
smo_human | 157 | N-term | V => M | missense | 2.214e-05 | 2 | 90322 | 0 | 0.0 | 0.99 | ||
smo_human | 161 | N-term | R => W | missense | 2.116e-05 | 2 | 94526 | 0 | 0.01 | 0.964 | ||
smo_human | 161 | N-term | R => Q | missense | 2.104e-05 | 2 | 95048 | 0 | 0.16 | 0.19 | ||
smo_human | 168 | N-term | R => C | missense | 1.029e-05 | 1 | 97206 | 0 | 0.0 | 0.93 | ||
smo_human | 168 | N-term | R => H | missense | 0.009458 | 923 | 97586 | 20 | 0.0 | 0.909 | ||
smo_human | 170 | N-term | T => A | missense | 1.038e-05 | 1 | 96384 | 0 | 0.25 | 0.029 | ||
smo_human | 171 | N-term | P => T | missense | 1.042e-05 | 1 | 95986 | 0 | 0.62 | 0.004 | ||
smo_human | 173 | N-term | R => C | missense | 0.0004695 | 44 | 93708 | 0 | 0.16 | 0.849 | ||
smo_human | 173 | N-term | R => H | missense | 0.001453 | 135 | 92888 | 0 | 0.87 | 0.009 | ||
smo_human | 175 | N-term | P => R | missense | 1.122e-05 | 1 | 89122 | 0 | 0.02 | 0.733 | ||
smo_human | 179 | N-term | T => M | missense | 0.0009094 | 74 | 81368 | 0 | 0.02 | 0.806 | ||
smo_human | 186 | N-term | K => R | missense | 1.649e-05 | 2 | 121316 | 0 | 0.1 | 0.263 | ||
smo_human | 189 | N-term | S => T | missense | 8.243e-06 | 1 | 121308 | 0 | 0.92 | 0.002 | ||
smo_human | 191 | N-term | G => S | missense | 8.243e-06 | 1 | 121314 | 0 | 0.05 | 0.562 | ||
smo_human | 192 | N-term | Q => H | missense | 8.244e-06 | 1 | 121306 | 0 | 0.2 | 0.005 | ||
smo_human | 194 | N-term | E => K | missense | 3.298e-05 | 4 | 121302 | 0 | 0.04 | 0.139 | ||
smo_human | 195 | N-term | V => M | missense | 6.595e-05 | 8 | 121300 | 0 | 0.02 | 0.012 | ||
smo_human | 195 | N-term | V => A | missense | 8.244e-06 | 1 | 121294 | 0 | 1.0 | 0.0 | ||
smo_human | 199 | N-term | R => W | missense | 3.299e-05 | 4 | 121250 | 0 | 0.01 | 0.069 | ||
smo_human | 199 | N-term | R => Q | missense | 2.474e-05 | 3 | 121240 | 0 | 0.41 | 0.011 | ||
smo_human | 202 | N-term | N => S | missense | 8.252e-06 | 1 | 121188 | 0 | 0.12 | 0.096 | ||
smo_human | 204 | N-term | K => R | missense | 8.261e-06 | 1 | 121054 | 0 | 0.36 | 0.041 | ||
smo_human | 204 | N-term | K => N | missense | 2.48e-05 | 3 | 120952 | 0 | 0.37 | 0.01 | ||
smo_human | 204 | N-term | K => N | missense | 8.268e-06 | 1 | 120952 | 0 | 0.37 | 0.01 | ||
smo_human | 212 | N-term | G => A | missense | 8.322e-06 | 1 | 120164 | 0 | 0.0 | 0.99 | ||
smo_human | 214 | N-term | G => S | missense | 8.347e-06 | 1 | 119802 | 0 | 0.0 | 0.966 | ||
smo_human | 224 | 1.26x26 | TM1 | E => D | missense | 0.0001712 | 20 | 116794 | 0 | 0.53 | 0.015 | |
smo_human | 227 | 1.29x29 | TM1 | H => Y | missense | 3.45e-05 | 4 | 115926 | 0 | 0.04 | 0.596 | |
smo_human | 228 | 1.30x30 | TM1 | Q => E | missense | 8.669e-06 | 1 | 115354 | 0 | 0.32 | 0.017 | |
smo_human | 228 | 1.30x30 | TM1 | Q => R | missense | 1.734e-05 | 2 | 115364 | 0 | 1.0 | 0.006 | |
smo_human | 235 | 1.37x37 | TM1 | A => T | missense | 9.242e-06 | 1 | 108206 | 0 | 0.01 | 0.658 | |
smo_human | 235 | 1.37x37 | TM1 | A => V | missense | 0.0001666 | 18 | 108052 | 0 | 0.04 | 0.44 | |
smo_human | 237 | 1.39x39 | TM1 | F => L | missense | 9.484e-06 | 1 | 105440 | 0 | 0.34 | 0.01 | |
smo_human | 238 | 1.40x40 | TM1 | G => R | missense | 0.0001046 | 11 | 105204 | 0 | 0.01 | 0.117 | |
smo_human | 240 | 1.42x42 | TM1 | V => I | missense | 1.942e-05 | 2 | 102972 | 1 | 0.74 | 0.016 | |
smo_human | 245 | 1.47x47 | TM1 | T => M | missense | 1.008e-05 | 1 | 99252 | 0 | 0.0 | 0.982 | |
smo_human | 257 | 12.48x48 | ICL1 | R => Q | missense | 8.259e-06 | 1 | 121086 | 0 | 0.14 | 0.104 | |
smo_human | 261 | 2.38x38 | TM2 | R => C | missense | 8.244e-06 | 1 | 121298 | 0 | 0.0 | 0.982 | |
smo_human | 261 | 2.38x38 | TM2 | R => H | missense | 1.649e-05 | 2 | 121308 | 0 | 0.0 | 0.982 | |
smo_human | 262 | 2.39x39 | TM2 | Y => F | missense | 8.242e-06 | 1 | 121334 | 0 | 0.03 | 0.946 | |
smo_human | 270 | 2.47x47 | TM2 | V => I | missense | 0.007414 | 900 | 121396 | 3 | 1.0 | 0.024 | |
smo_human | 272 | 2.49x49 | TM2 | A => V | missense | 1.648e-05 | 2 | 121392 | 0 | 0.41 | 0.169 | |
smo_human | 279 | 2.56x56 | TM2 | I => T | missense | 3.295e-05 | 4 | 121386 | 0 | 0.0 | 0.937 | |
smo_human | 281 | 2.58x58 | TM2 | W => C | missense | 8.238e-06 | 1 | 121382 | 0 | 0.01 | 0.512 | LB (hydrophobic, aromatic (edge-to-face), Van der Waals) |
smo_human | 286 | ECL1 | M => T | missense | 8.241e-06 | 1 | 121340 | 0 | 0.43 | 0.029 | ||
smo_human | 290 | ECL1 | R => H | missense | 1.649e-05 | 2 | 121280 | 0 | 0.0 | 0.968 | ||
smo_human | 294 | ECL1 | V => I | missense | 2.476e-05 | 3 | 121180 | 0 | 0.08 | 0.692 | ||
smo_human | 294 | ECL1 | V => F | missense | 8.252e-06 | 1 | 121180 | 0 | 0.0 | 0.996 | ||
smo_human | 296 | ECL1 | R => C | missense | 8.256e-05 | 10 | 121126 | 0 | 0.0 | 0.977 | ||
smo_human | 296 | ECL1 | R => H | missense | 1.651e-05 | 2 | 121116 | 0 | 0.06 | 0.577 | ||
smo_human | 301 | ECL1 | M => V | missense | 8.271e-06 | 1 | 120898 | 0 | 0.13 | 0.036 | ||
smo_human | 301 | ECL1 | M => R | missense | 8.273e-06 | 1 | 120878 | 0 | 0.06 | 0.065 | ||
smo_human | 303 | ECL1 | L => F | missense | 8.282e-06 | 1 | 120750 | 0 | 0.28 | 0.053 | ||
smo_human | 309 | ECL1 | N => S | missense | 6.224e-05 | 7 | 112466 | 0 | 0.34 | 0.006 | ||
smo_human | 316 | 3.27x27 | TM3 | I => V | missense | 8.655e-06 | 1 | 115538 | 0 | 0.52 | 0.041 | |
smo_human | 325 | 3.36x36 | TM3 | L => P | missense | 8.33e-06 | 1 | 120042 | 0 | 0.0 | 0.98 | LB (hydrophobic) |
smo_human | 327 | 3.38x38 | TM3 | A => T | missense | 3.321e-05 | 4 | 120432 | 0 | 0.0 | 0.982 | |
smo_human | 329 | 3.40x40 | TM3 | V => G | missense | 8.272e-06 | 1 | 120894 | 0 | 0.0 | 0.763 | SodiumPocket MicroSwitch LB (hydrophobic) |
smo_human | 334 | 3.45x45 | TM3 | V => I | missense | 8.247e-06 | 1 | 121250 | 0 | 0.85 | 0.011 | |
smo_human | 340 | 3.51x51 | TM3 | H => N | missense | 8.24e-06 | 1 | 121366 | 0 | 0.08 | 0.118 | |
smo_human | 340 | 3.51x51 | TM3 | H => Y | missense | 8.24e-06 | 1 | 121366 | 0 | 0.07 | 0.145 | |
smo_human | 351 | ICL2 | Q => K | missense | 1.647e-05 | 2 | 121408 | 0 | 0.13 | 0.065 | ||
smo_human | 353 | ICL2 | L => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.16 | 0.206 | ||
smo_human | 361 | 4.46x46 | TM4 | H => Y | missense | 2.471e-05 | 3 | 121406 | 0 | 0.0 | 0.997 | |
smo_human | 363 | 4.48x48 | TM4 | L => F | missense | 8.237e-06 | 1 | 121406 | 0 | 0.04 | 0.068 | |
smo_human | 368 | 4.53x53 | TM4 | P => A | missense | 4.942e-05 | 6 | 121398 | 0 | 0.0 | 0.998 | |
smo_human | 368 | 4.53x53 | TM4 | P => S | missense | 1.647e-05 | 2 | 121398 | 0 | 0.0 | 0.998 | |
smo_human | 373 | 4.58x58 | TM4 | V => M | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 0.989 | |
smo_human | 378 | 4.63x63 | TM4 | V => M | missense | 3.295e-05 | 4 | 121384 | 0 | 0.1 | 0.309 | |
smo_human | 379 | 4.64x64 | TM4 | A => V | missense | 1.648e-05 | 2 | 121372 | 0 | 0.01 | 0.338 | |
smo_human | 386 | ECL2 | V => G | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.968 | ||
smo_human | 387 | ECL2 | S => N | missense | 8.238e-06 | 1 | 121390 | 0 | 0.02 | 0.969 | ||
smo_human | 397 | 5.40x41 | TM5 | Y => C | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 0.962 | |
smo_human | 398 | 5.41x42 | TM5 | R => Q | missense | 6.589e-05 | 8 | 121412 | 0 | 0.3 | 0.067 | |
smo_human | 400 | 5.43x44 | TM5 | R => C | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.997 | LB (polar (charge-assisted hydrogen bond)) |
smo_human | 400 | 5.43x44 | TM5 | R => H | missense | 1.647e-05 | 2 | 121410 | 0 | 0.0 | 0.997 | LB (polar (charge-assisted hydrogen bond)) |
smo_human | 401 | 5.44x45 | TM5 | A => T | missense | 1.647e-05 | 2 | 121410 | 0 | 0.03 | 0.958 | |
smo_human | 401 | 5.44x45 | TM5 | A => V | missense | 4.118e-05 | 5 | 121410 | 0 | 0.12 | 0.464 | |
smo_human | 406 | 5.49x49 | TM5 | A => T | missense | 8.237e-06 | 1 | 121400 | 0 | 0.06 | 0.491 | |
smo_human | 408 | 5.51x51 | TM5 | I => V | missense | 2.471e-05 | 3 | 121398 | 0 | 0.4 | 0.124 | SodiumPocket MicroSwitch LB (hydrophobic, Van der Waals) |
smo_human | 415 | 5.58x58 | TM5 | G => E | missense | 1.648e-05 | 2 | 121336 | 0 | 0.0 | 0.999 | |
smo_human | 423 | 5.66x66 | TM5 | V => I | missense | 8.606e-06 | 1 | 116192 | 0 | 0.03 | 0.403 | LB (hydrophobic) |
smo_human | 423 | 5.66x66 | TM5 | V => F | missense | 8.606e-06 | 1 | 116192 | 0 | 0.01 | 0.088 | LB (hydrophobic) |
smo_human | 425 | 5.68x68 | TM5 | T => I | missense | 8.509e-06 | 1 | 117520 | 0 | 0.08 | 0.444 | GP (contact) |
smo_human | 446 | 6.27x27 | TM6 | N => S | missense | 8.544e-06 | 1 | 117040 | 0 | 0.05 | 0.281 | |
smo_human | 451 | 6.32x32 | TM6 | R => C | missense | 8.834e-06 | 1 | 113198 | 0 | 0.0 | 1.0 | GP (contact) |
smo_human | 473 | 6.54x54 | TM6 | D => N | missense | 4.125e-05 | 5 | 121214 | 0 | 0.01 | 0.791 | LB (polar (charge-assisted hydrogen bond)) |
smo_human | 482 | 6.63x63 | TM6 | R => C | missense | 1.662e-05 | 2 | 120326 | 0 | 0.01 | 0.892 | |
smo_human | 482 | 6.63x63 | TM6 | R => H | missense | 3.327e-05 | 4 | 120212 | 0 | 0.01 | 0.227 | |
smo_human | 485 | 6.66x66 | TM6 | R => W | missense | 2.506e-05 | 3 | 119718 | 0 | 0.0 | 0.993 | LB (polar (hydrogen bond with backbone), Van der Waals) |
smo_human | 485 | 6.66x66 | TM6 | R => Q | missense | 8.367e-06 | 1 | 119524 | 0 | 0.06 | 0.44 | LB (polar (hydrogen bond with backbone), Van der Waals) |
smo_human | 488 | 6.69x69 | TM6 | V => M | missense | 4.229e-05 | 5 | 118218 | 0 | 0.17 | 0.42 | LB (hydrophobic, Van der Waals) |
smo_human | 497 | ECL3 | G => R | missense | 2.472e-05 | 3 | 121348 | 0 | 0.05 | 0.146 | ||
smo_human | 499 | ECL3 | P => S | missense | 8.239e-06 | 1 | 121368 | 0 | 0.79 | 0.032 | ||
smo_human | 512 | ECL3 | R => L | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.878 | ||
smo_human | 514 | 7.34x34 | TM7 | S => C | missense | 1.647e-05 | 2 | 121402 | 0 | 0.0 | 0.986 | |
smo_human | 514 | 7.34x34 | TM7 | S => N | missense | 8.237e-06 | 1 | 121402 | 0 | 0.04 | 0.467 | |
smo_human | 516 | 7.36x36 | TM7 | L => V | missense | 8.237e-06 | 1 | 121404 | 0 | 0.48 | 0.06 | |
smo_human | 516 | 7.36x36 | TM7 | L => P | missense | 8.237e-06 | 1 | 121404 | 0 | 0.19 | 0.808 | |
smo_human | 520 | 7.40x40 | TM7 | I => T | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.371 | |
smo_human | 526 | 7.46x46 | TM7 | F => L | missense | 8.238e-06 | 1 | 121384 | 0 | 0.03 | 0.126 | SodiumPocket MicroSwitch |
smo_human | 531 | 7.51x51 | TM7 | A => T | missense | 8.239e-06 | 1 | 121368 | 0 | 0.29 | 0.041 | |
smo_human | 540 | 8.49x49 | H8 | A => V | missense | 2.475e-05 | 3 | 121218 | 0 | nan | 0.971 | GP (contact) |
smo_human | 543 | 8.52x52 | H8 | L => F | missense | 8.253e-06 | 1 | 121166 | 0 | nan | 0.986 | |
smo_human | 546 | 8.55x55 | H8 | R => K | missense | 8.264e-06 | 1 | 121002 | 0 | 1.0 | 0.001 | |
smo_human | 547 | 8.56x56 | H8 | R => C | missense | 8.266e-06 | 1 | 120978 | 0 | nan | 0.992 | |
smo_human | 547 | 8.56x56 | H8 | R => H | missense | 8.269e-06 | 1 | 120940 | 0 | 0.02 | 0.989 | |
smo_human | 555 | C-term | Q => K | missense | 8.623e-06 | 1 | 115968 | 0 | nan | 0.017 | ||
smo_human | 556 | C-term | S => N | missense | 8.578e-06 | 1 | 116584 | 0 | nan | 0.603 | ||
smo_human | 556 | C-term | S => T | missense | 8.578e-06 | 1 | 116584 | 0 | nan | 0.184 | ||
smo_human | 558 | C-term | D => N | missense | 8.515e-06 | 1 | 117444 | 0 | 0.31 | 0.638 | ||
smo_human | 562 | C-term | R => W | missense | 3.358e-05 | 4 | 119122 | 0 | nan | 0.952 | ||
smo_human | 562 | C-term | R => Q | missense | 2.514e-05 | 3 | 119344 | 0 | nan | 0.613 | ||
smo_human | 563 | C-term | I => M | missense | 8.359e-06 | 1 | 119626 | 0 | nan | 0.413 | ||
smo_human | 570 | C-term | A => S | missense | 8.306e-06 | 1 | 120398 | 0 | nan | 0.98 | ||
smo_human | 571 | C-term | K => R | missense | 8.297e-06 | 1 | 120532 | 0 | nan | 0.969 | ||
smo_human | 574 | C-term | S => C | missense | 8.293e-06 | 1 | 120590 | 0 | 0.0 | 0.992 | ||
smo_human | 575 | C-term | K => M | missense | 0.0001078 | 13 | 120598 | 0 | nan | 0.847 | ||
smo_human | 576 | C-term | R => W | missense | 1.658e-05 | 2 | 120608 | 0 | nan | 0.999 | ||
smo_human | 576 | C-term | R => Q | missense | 8.291e-06 | 1 | 120616 | 0 | nan | 0.992 | ||
smo_human | 577 | C-term | H => Q | missense | 1.658e-05 | 2 | 120600 | 1 | 0.02 | 0.081 | LB (polar (charge-assisted hydrogen bond)) | |
smo_human | 583 | C-term | P => A | missense | 8.311e-06 | 1 | 120318 | 0 | nan | 0.987 | ||
smo_human | 588 | C-term | S => T | missense | 5.016e-05 | 6 | 119606 | 0 | nan | 0.943 | LB (hydrophobic, Van der Waals) | |
smo_human | 588 | C-term | S => Y | missense | 5.016e-05 | 6 | 119606 | 0 | nan | 0.99 | LB (hydrophobic, Van der Waals) | |
smo_human | 590 | C-term | S => T | missense | 2.514e-05 | 3 | 119334 | 0 | nan | 0.916 | ||
smo_human | 590 | C-term | S => N | missense | 1.676e-05 | 2 | 119334 | 0 | nan | 0.916 | ||
smo_human | 591 | C-term | M => V | missense | 1.678e-05 | 2 | 119162 | 0 | nan | 0.007 | ||
smo_human | 598 | C-term | G => R | missense | 1.716e-05 | 2 | 116558 | 0 | nan | 0.998 | ||
smo_human | 600 | C-term | V => L | missense | 8.623e-06 | 1 | 115974 | 0 | 0.15 | 0.94 | ||
smo_human | 600 | C-term | V => M | missense | 8.623e-06 | 1 | 115974 | 0 | nan | 0.987 | ||
smo_human | 602 | C-term | G => S | missense | 8.303e-06 | 1 | 120436 | 0 | 0.01 | 0.983 | ||
smo_human | 608 | C-term | N => S | missense | 4.131e-05 | 5 | 121022 | 0 | 0.04 | 0.542 | ||
smo_human | 612 | C-term | A => G | missense | 8.255e-06 | 1 | 121146 | 0 | 0.41 | 0.001 | ||
smo_human | 617 | C-term | A => G | missense | 8.247e-06 | 1 | 121258 | 0 | 0.01 | 0.366 | ||
smo_human | 628 | C-term | R => W | missense | 8.245e-06 | 1 | 121280 | 0 | 0.0 | 0.999 | ||
smo_human | 628 | C-term | R => Q | missense | 2.473e-05 | 3 | 121316 | 0 | 0.0 | 0.99 | ||
smo_human | 628 | C-term | R => L | missense | 8.243e-06 | 1 | 121316 | 0 | 0.0 | 0.992 | ||
smo_human | 634 | C-term | P => S | missense | 8.241e-06 | 1 | 121342 | 0 | 0.1 | 0.016 | ||
smo_human | 641 | C-term | P => A | missense | 0.0003711 | 45 | 121276 | 0 | 0.04 | 0.505 | ||
smo_human | 643 | C-term | A => T | missense | 1.65e-05 | 2 | 121228 | 0 | 0.04 | 0.575 | ||
smo_human | 646 | C-term | V => M | missense | 8.252e-06 | 1 | 121178 | 0 | 0.01 | 0.851 | ||
smo_human | 647 | C-term | P => S | missense | 0.00872 | 425 | 48738 | 2 | 0.24 | 0.556 | ||
smo_human | 651 | C-term | Q => R | missense | 1.975e-05 | 1 | 50630 | 0 | 1.0 | 0.001 | ||
smo_human | 652 | C-term | A => T | missense | 1.991e-05 | 1 | 50230 | 0 | 0.56 | 0.024 | ||
smo_human | 653 | C-term | N => S | missense | 1.972e-05 | 1 | 50704 | 0 | 0.09 | 0.002 | ||
smo_human | 668 | C-term | R => C | missense | 4.756e-05 | 2 | 42056 | 0 | 0.0 | 0.732 | ||
smo_human | 668 | C-term | R => H | missense | 4.823e-05 | 2 | 41464 | 0 | 0.01 | 0.67 | ||
smo_human | 671 | C-term | R => W | missense | 0.0002867 | 11 | 38368 | 0 | 0.01 | 0.328 | ||
smo_human | 673 | C-term | K => N | missense | 3.093e-05 | 1 | 32336 | 0 | 0.01 | 0.617 | ||
smo_human | 677 | C-term | K => E | missense | 9.812e-05 | 3 | 30576 | 0 | 0.02 | 0.152 | ||
smo_human | 681 | C-term | E => A | missense | 3.694e-05 | 1 | 27072 | 0 | nan | 0.53 | ||
smo_human | 684 | C-term | P => L | missense | 8.755e-05 | 2 | 22844 | 0 | nan | 0.852 | ||
smo_human | 687 | C-term | P => L | missense | 0.001164 | 25 | 21474 | 0 | nan | 0.009 | ||
smo_human | 689 | C-term | P => H | missense | 4.755e-05 | 1 | 21032 | 0 | nan | 0.339 | ||
smo_human | 693 | C-term | P => S | missense | 0.0001454 | 3 | 20630 | 0 | nan | 0.005 | ||
smo_human | 694 | C-term | P => R | missense | 0.0002459 | 5 | 20334 | 0 | nan | 0.0 | ||
smo_human | 697 | C-term | A => G | missense | 4.832e-05 | 1 | 20694 | 0 | nan | 0.002 | ||
smo_human | 698 | C-term | P => R | missense | 0.003008 | 63 | 20944 | 0 | nan | 0.001 | ||
smo_human | 703 | C-term | R => P | missense | 4.459e-05 | 1 | 22426 | 0 | nan | 0.902 | ||
smo_human | 703 | C-term | R => Q | missense | 4.459e-05 | 1 | 22426 | 0 | nan | 0.632 | ||
smo_human | 708 | C-term | P => L | missense | 3.899e-05 | 1 | 25646 | 0 | nan | 0.997 | ||
smo_human | 709 | C-term | R => W | missense | 3.835e-05 | 1 | 26074 | 0 | nan | 0.424 | ||
smo_human | 709 | C-term | R => Q | missense | 0.0001505 | 4 | 26582 | 0 | nan | 0.002 | ||
smo_human | 712 | C-term | C => R | missense | 3.354e-05 | 1 | 29816 | 0 | nan | 0.001 | ||
smo_human | 716 | C-term | A => E | missense | 2.778e-05 | 1 | 35998 | 0 | 1.0 | 0.016 | ||
smo_human | 717 | C-term | G => C | missense | 2.638e-05 | 1 | 37910 | 0 | nan | 0.24 | ||
smo_human | 722 | C-term | G => E | missense | 1.921e-05 | 1 | 52050 | 0 | nan | 0.0 | ||
smo_human | 723 | C-term | D => V | missense | 1.81e-05 | 1 | 55236 | 0 | nan | 0.011 | ||
smo_human | 726 | C-term | R => G | missense | 3.091e-05 | 2 | 64698 | 0 | nan | 0.002 | ||
smo_human | 726 | C-term | R => Q | missense | 0.0009642 | 65 | 67416 | 0 | nan | 0.058 | ||
smo_human | 728 | C-term | G => A | missense | 1.283e-05 | 1 | 77952 | 0 | nan | 0.007 | ||
smo_human | 729 | C-term | A => S | missense | 1.24e-05 | 1 | 80632 | 0 | nan | 0.004 | ||
smo_human | 729 | C-term | A => V | missense | 1.222e-05 | 1 | 81846 | 0 | nan | 0.001 | ||
smo_human | 735 | C-term | N => S | missense | 1.883e-05 | 2 | 106194 | 0 | nan | 0.004 | ||
smo_human | 735 | C-term | N => T | missense | 9.417e-06 | 1 | 106194 | 0 | nan | 0.026 | ||
smo_human | 736 | C-term | P => T | missense | 9.298e-06 | 1 | 107552 | 0 | nan | 0.328 | ||
smo_human | 736 | C-term | P => L | missense | 9.224e-06 | 1 | 108416 | 0 | nan | 0.004 | ||
smo_human | 743 | C-term | P => T | missense | 0.0002374 | 28 | 117962 | 0 | nan | 0.115 | ||
smo_human | 743 | C-term | P => S | missense | 3.391e-05 | 4 | 117962 | 0 | nan | 0.007 | ||
smo_human | 744 | C-term | P => T | missense | 8.435e-06 | 1 | 118558 | 0 | nan | 0.025 | ||
smo_human | 744 | C-term | P => H | missense | 8.422e-06 | 1 | 118732 | 0 | nan | 0.001 | ||
smo_human | 745 | C-term | Q => R | missense | 2.517e-05 | 3 | 119172 | 0 | nan | 0.014 | ||
smo_human | 751 | C-term | S => N | missense | 1.668e-05 | 2 | 119894 | 0 | nan | 0.049 | ||
smo_human | 753 | C-term | P => L | missense | 8.351e-06 | 1 | 119752 | 0 | nan | 0.0 | ||
smo_human | 755 | C-term | P => T | missense | 8.349e-06 | 1 | 119778 | 0 | nan | 0.031 | ||
smo_human | 756 | C-term | V => M | missense | 5.015e-05 | 6 | 119632 | 0 | nan | 0.001 | ||
smo_human | 756 | C-term | V => L | missense | 8.359e-06 | 1 | 119632 | 0 | nan | 0.002 | ||
smo_human | 759 | C-term | A => V | missense | 8.385e-06 | 1 | 119266 | 0 | nan | 0.001 | ||
smo_human | 760 | C-term | H => R | missense | 1.678e-05 | 2 | 119172 | 0 | nan | 0.0 | ||
smo_human | 762 | C-term | R => H | missense | 4.198e-05 | 5 | 119098 | 0 | nan | 0.379 | ||
smo_human | 765 | C-term | G => V | missense | 8.398e-06 | 1 | 119074 | 0 | nan | 0.008 | ||
smo_human | 769 | C-term | I => L | missense | 2.525e-05 | 3 | 118800 | 0 | nan | 0.009 | ||
smo_human | 772 | C-term | R => C | missense | 0.000312 | 37 | 118582 | 0 | nan | 0.877 | ||
smo_human | 772 | C-term | R => G | missense | 8.433e-06 | 1 | 118582 | 0 | nan | 0.645 | ||
smo_human | 772 | C-term | R => H | missense | 5.064e-05 | 6 | 118472 | 0 | nan | 0.828 | ||
smo_human | 774 | C-term | N => S | missense | 1.691e-05 | 2 | 118306 | 0 | nan | 0.985 | ||
smo_human | 776 | C-term | M => V | missense | 8.463e-06 | 1 | 118164 | 0 | nan | 0.004 | ||
smo_human | 777 | C-term | D => N | missense | 1.694e-05 | 2 | 118066 | 0 | nan | 0.004 | ||
smo_human | 778 | C-term | T => I | missense | 2.545e-05 | 3 | 117896 | 0 | nan | 0.0 | ||
smo_human | 779 | C-term | E => A | missense | 8.49e-06 | 1 | 117784 | 0 | nan | 0.989 | ||
smo_human | 781 | C-term | M => T | missense | 3.408e-05 | 4 | 117368 | 0 | nan | 0.073 | ||
smo_human | 787 | C-term | F => L | missense | 1.73e-05 | 2 | 115606 | 0 | nan | 0.97 |
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