Variation Browser

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Receptor 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
pth1r_human 228 2.55x55 TM2 L => CysfsTer8 frameshift 8.406e-06 1 118966 0 None None
pth1r_human 297 3.45x45 TM3 Y => Ter stop gained 8.246e-06 1 121272 0 None None
pth1r_human 339 4.60x60 TM4 W => Ter stop gained 2.729e-05 1 36640 0 None None
pth1r_human 587 C-term E => Ter stop gained 8.373e-06 1 119430 0 None None
pth1r_human 18 N-term V => M missense 0.0001564 2 12786 0 0.07 0.022
pth1r_human 27 N-term D => V missense 8.59e-06 1 116414 0 0.0 0.935
pth1r_human 28 N-term A => V missense 8.536e-06 1 117146 0 0.04 0.016
pth1r_human 30 N-term D => Y missense 2.543e-05 3 117988 0 0.01 1.0
pth1r_human 31 N-term V => I missense 2.536e-05 3 118308 0 0.04 0.997
pth1r_human 43 N-term R => G missense 8.306e-06 1 120390 0 0.34 0.014
pth1r_human 43 N-term R => H missense 0.0007723 93 120418 0 0.02 0.67
pth1r_human 45 N-term Q => R missense 8.299e-06 1 120492 0 0.09 0.968
pth1r_human 46 N-term A => T missense 3.32e-05 4 120500 0 0.18 0.867
pth1r_human 46 N-term A => D missense 7.469e-05 9 120492 0 0.15 0.942
pth1r_human 47 N-term Q => E missense 8.297e-06 1 120522 0 0.07 0.444
pth1r_human 49 N-term E => K missense 8.299e-06 1 120492 0 0.03 0.273
pth1r_human 51 N-term R => W missense 8.301e-06 1 120474 0 0.0 0.339
pth1r_human 52 N-term L => P missense 8.304e-06 1 120422 0 0.0 0.998
pth1r_human 54 N-term E => K missense 8.308e-06 1 120370 0 0.04 0.98
pth1r_human 61 N-term S => R missense 8.237e-06 1 121402 0 0.26 0.006
pth1r_human 61 N-term S => N missense 0.0002059 25 121402 0 nan 0.0
pth1r_human 61 N-term S => T missense 8.237e-06 1 121402 0 0.3 0.004
pth1r_human 62 N-term I => M missense 8.237e-06 1 121402 0 0.04 0.052
pth1r_human 66 N-term D => E missense 8.237e-06 1 121398 0 0.15 0.018
pth1r_human 68 N-term G => E missense 8.238e-06 1 121394 0 0.09 0.43
pth1r_human 69 N-term W => C missense 8.238e-06 1 121388 0 0.01 0.628
pth1r_human 72 N-term A => V missense 3.295e-05 4 121384 0 0.12 0.001
pth1r_human 76 N-term G => R missense 0.0004038 49 121358 0 0.02 0.454
pth1r_human 76 N-term G => E missense 8.241e-06 1 121346 0 0.04 0.017
pth1r_human 78 N-term P => S missense 8.241e-06 1 121338 0 0.15 0.903
pth1r_human 79 N-term R => S missense 8.243e-06 1 121314 0 0.15 0.014
pth1r_human 83 N-term A => V missense 8.251e-06 1 121194 0 0.07 0.001
pth1r_human 84 N-term S => C missense 4.128e-05 5 121116 1 0.04 0.514
pth1r_human 86 N-term K => N missense 8.264e-06 1 121010 0 0.08 0.343
pth1r_human 89 N-term P => S missense 8.273e-06 1 120868 0 0.21 0.0
pth1r_human 89 N-term P => R missense 1.656e-05 2 120808 0 0.09 0.0
pth1r_human 92 N-term E => K missense 8.299e-06 1 120502 0 0.17 0.0
pth1r_human 92 N-term E => D missense 1.664e-05 2 120202 0 0.12 0.01
pth1r_human 100 N-term G => D missense 0.002345 275 117262 2 0.05 0.004
pth1r_human 104 N-term R => Q missense 0.000115 13 113018 0 0.29 0.001
pth1r_human 106 N-term R => H missense 3.335e-05 4 119942 0 0.15 0.009
pth1r_human 122 N-term A => T missense 2.483e-05 3 120800 0 0.59 0.911
pth1r_human 130 N-term P => S missense 1.653e-05 2 120980 0 0.1 0.686
pth1r_human 130 N-term P => L missense 8.265e-06 1 120996 0 0.09 0.686
pth1r_human 133 N-term D => A missense 8.258e-06 1 121096 0 0.11 0.966
pth1r_human 134 N-term Y => D missense 8.257e-06 1 121112 0 0.0 0.999
pth1r_human 135 N-term I => N missense 8.255e-06 1 121138 0 0.0 0.997
pth1r_human 142 N-term G => A missense 8.238e-06 1 121386 0 0.0 1.0
pth1r_human 146 N-term R => Q missense 8.239e-06 1 121380 0 0.0 1.0
pth1r_human 147 N-term R => L missense 0.0001071 13 121382 0 0.02 0.945
pth1r_human 147 N-term R => H missense 1.648e-05 2 121382 0 0.51 0.297
pth1r_human 150 N-term R => C missense 0.001862 226 121388 1 0.18 0.885
pth1r_human 150 N-term R => L missense 8.238e-06 1 121388 0 0.66 0.591
pth1r_human 150 N-term R => H missense 9.886e-05 12 121388 0 0.54 0.012
pth1r_human 155 N-term E => K missense 8.238e-06 1 121392 0 0.03 0.5
pth1r_human 156 N-term L => P missense 4.119e-05 5 121392 0 0.01 0.745
pth1r_human 158 N-term P => H missense 8.238e-06 1 121390 0 0.58 0.989
pth1r_human 160 N-term H => P missense 8.238e-06 1 121392 0 0.21 0.958
pth1r_human 163 N-term T => M missense 1.648e-05 2 121390 0 0.0 0.999
pth1r_human 165 N-term A => V missense 8.238e-06 1 121392 0 0.03 1.0
pth1r_human 167 N-term Y => F missense 8.238e-06 1 121388 0 0.0 1.0
pth1r_human 169 N-term E => K missense 8.238e-06 1 121388 0 0.0 0.996
pth1r_human 171 N-term V => A missense 8.238e-06 1 121392 0 0.65 0.055
pth1r_human 172 N-term K => T missense 8.238e-06 1 121392 0 0.35 0.185
pth1r_human 173 1.25x25 TM1 F => Y missense 1.648e-05 2 121390 0 0.26 0.012
pth1r_human 175 1.27x27 TM1 T => S missense 8.238e-06 1 121392 0 0.43 0.001
pth1r_human 176 1.28x28 TM1 N => S missense 6.59e-05 8 121392 0 0.52 0.76
pth1r_human 177 1.29x29 TM1 E => D missense 8.238e-06 1 121394 0 0.24 0.672 LB (Van der Waals)
pth1r_human 178 1.30x30 TM1 T => A missense 8.238e-06 1 121386 0 0.17 0.444
pth1r_human 179 1.31x31 TM1 R => H missense 8.238e-06 1 121390 0 0.11 0.019
pth1r_human 181 1.33x33 TM1 R => W missense 8.238e-06 1 121388 0 0.0 0.965 LB (Van der Waals, polar (charge-assisted hydrogen bond))
pth1r_human 181 1.33x33 TM1 R => Q missense 2.471e-05 3 121390 0 0.47 0.565 LB (Van der Waals, polar (charge-assisted hydrogen bond))
pth1r_human 182 1.34x34 TM1 E => K missense 8.249e-06 1 121226 0 0.1 0.76
pth1r_human 186 1.38x38 TM1 R => C missense 8.248e-06 1 121238 0 0.0 0.998
pth1r_human 186 1.38x38 TM1 R => L missense 8.249e-06 1 121234 0 0.01 0.997
pth1r_human 189 1.41x41 TM1 M => L missense 8.248e-06 1 121238 0 1.0 0.001
pth1r_human 190 1.42x42 TM1 I => S missense 8.249e-06 1 121232 0 0.0 0.958
pth1r_human 193 1.45x45 TM1 V => M missense 8.249e-06 1 121224 0 0.0 0.994
pth1r_human 195 1.47x47 TM1 Y => C missense 8.251e-06 1 121204 0 0.0 0.999 LB (polar (hydrogen bond), Van der Waals)
pth1r_human 196 1.48x48 TM1 S => A missense 8.251e-06 1 121198 0 0.05 0.965
pth1r_human 204 1.56x56 TM1 V => A missense 8.259e-06 1 121084 0 0.02 0.957
pth1r_human 205 1.57x57 TM1 A => S missense 8.261e-06 1 121058 0 0.01 0.919
pth1r_human 210 1.62x62 TM1 A => V missense 4.972e-05 6 120664 0 0.12 0.998
pth1r_human 212 1.64x64 TM1 F => S missense 8.328e-06 1 120082 0 0.0 0.995
pth1r_human 216 12.51x51 ICL1 H => R missense 2.53e-05 3 118580 0 0.0 0.984
pth1r_human 219 2.46x46 TM2 R => L missense 1.684e-05 2 118782 0 0.01 0.38 LB (polar (charge-assisted hydrogen bond))
pth1r_human 221 2.48x48 TM2 Y => C missense 8.411e-06 1 118894 0 0.01 0.988
pth1r_human 224 2.51x51 TM2 M => V missense 1.681e-05 2 118990 0 0.2 0.019
pth1r_human 224 2.51x51 TM2 M => L missense 8.404e-06 1 118990 0 0.18 0.023
pth1r_human 225 2.52x52 TM2 H => Y missense 8.403e-06 1 119004 0 0.0 0.982
pth1r_human 242 2.69x69 TM2 A => D missense 2.629e-05 3 114128 0 0.37 0.371
pth1r_human 248 2.75x75 TM2 A => S missense 0.0007896 77 97514 0 0.51 0.094
pth1r_human 249 2.76x76 TM2 T => M missense 2.985e-05 3 100492 0 0.13 0.322
pth1r_human 250 ECL1 L => P missense 1.026e-05 1 97492 0 0.18 0.017
pth1r_human 252 ECL1 E => K missense 1.078e-05 1 92768 0 0.05 0.098
pth1r_human 261 ECL1 L => R missense 3.053e-05 2 65518 0 0.02 0.936
pth1r_human 261 ECL1 L => P missense 1.526e-05 1 65518 0 0.05 0.953
pth1r_human 262 ECL1 R => H missense 1.65e-05 1 60604 0 0.22 0.005
pth1r_human 267 ECL1 A => E missense 3.105e-05 1 32206 0 0.16 0.158
pth1r_human 269 ECL1 P => L missense 3.425e-05 1 29200 0 0.35 0.006
pth1r_human 276 ECL1 A => T missense 5.024e-05 1 19906 0 0.41 0.042
pth1r_human 277 3.25x25 TM3 G => S missense 5.424e-05 1 18436 0 0.66 0.15
pth1r_human 279 3.27x27 TM3 A => V missense 8.253e-06 1 121166 0 1.0 0.027
pth1r_human 284 3.32x32 TM3 A => S missense 8.249e-06 1 121234 0 0.02 0.764
pth1r_human 296 3.44x44 TM3 Y => C missense 8.246e-06 1 121272 0 0.0 0.999 SodiumPocket MicroSwitch LB (hydrophobic, Van der Waals)
pth1r_human 297 3.45x45 TM3 Y => C missense 8.246e-06 1 121274 0 0.0 0.999
pth1r_human 298 3.46x46 TM3 W => C missense 8.246e-06 1 121270 0 0.0 1.0
pth1r_human 310 3.58x58 TM3 I => V missense 1.65e-05 2 121224 0 0.01 0.999 GP (contact)
pth1r_human 314 ICL2 F => V missense 8.252e-06 1 121188 0 0.0 0.998
pth1r_human 314 ICL2 F => I missense 8.252e-06 1 121188 0 0.0 0.998
pth1r_human 314 ICL2 F => S missense 8.252e-06 1 121180 0 0.0 0.999
pth1r_human 319 4.40x41 TM4 K => N missense 8.259e-06 1 121082 0 0.31 0.998
pth1r_human 320 4.41x42 TM4 Y => H missense 8.259e-06 1 121082 0 0.01 0.999 PTM (Phosphorylation)
pth1r_human 321 4.42x43 TM4 L => M missense 8.261e-06 1 121058 0 0.01 0.999
pth1r_human 328 4.49x491 TM4 G => S missense 8.284e-06 1 120712 0 0.0 1.0
pth1r_human 344 4.65x65 TM4 A => D missense 2.827e-05 1 35368 0 0.0 0.939
pth1r_human 347 4.68x68 TM4 A => P missense 2.907e-05 1 34394 0 0.0 0.992
pth1r_human 349 ECL2 T => A missense 2.947e-05 1 33932 0 0.27 0.816
pth1r_human 350 ECL2 G => R missense 5.984e-05 2 33424 0 1.0 0.014
pth1r_human 371 5.47x47 TM5 I => T missense 0.0001139 3 26330 0 0.0 0.112
pth1r_human 372 5.48x48 TM5 V => M missense 3.844e-05 1 26014 0 0.25 0.596
pth1r_human 380 5.56x56 TM5 N => S missense 8.266e-06 1 120984 0 0.0 0.956
pth1r_human 382 5.58x58 TM5 V => I missense 4.133e-05 5 120968 0 0.34 0.03
pth1r_human 386 5.62x62 TM5 A => T missense 1.654e-05 2 120898 0 0.0 1.0 GP (contact)
pth1r_human 390 ICL3 R => W missense 1.656e-05 2 120788 0 0.11 0.079
pth1r_human 390 ICL3 R => Q missense 8.28e-06 1 120772 0 0.34 0.964
pth1r_human 394 ICL3 A => T missense 9.128e-05 11 120504 0 0.33 0.572
pth1r_human 395 ICL3 G => S missense 8.301e-06 1 120474 0 0.11 0.99
pth1r_human 396 ICL3 R => W missense 8.306e-06 1 120392 0 0.0 0.995
pth1r_human 396 ICL3 R => Q missense 8.307e-06 1 120376 0 0.08 0.96
pth1r_human 397 ICL3 C => Y missense 8.315e-06 1 120266 0 1.0 0.979
pth1r_human 399 6.31x31 TM6 T => A missense 8.334e-06 1 119996 0 0.06 0.026 GP (contact)
pth1r_human 400 6.32x32 TM6 R => G missense 8.34e-06 1 119900 0 0.03 0.036
pth1r_human 400 6.32x32 TM6 R => W missense 3.336e-05 4 119900 0 0.0 0.988
pth1r_human 404 6.36x36 TM6 R => W missense 2.523e-05 3 118910 0 0.0 0.999
pth1r_human 404 6.36x36 TM6 R => Q missense 2.523e-05 3 118912 0 0.02 0.99
pth1r_human 410 6.42x42 TM6 T => M missense 9.208e-06 1 108606 0 0.0 1.0 GP (contact)
pth1r_human 412 6.44x44 TM6 V => M missense 9.047e-06 1 110534 0 0.0 1.0 LB (hydrophobic, Van der Waals)
pth1r_human 413 6.45x45 TM6 L => F missense 8.979e-06 1 111374 0 0.0 1.0 LB (hydrophobic, Van der Waals) GP (contact)
pth1r_human 418 6.50x50 TM6 G => A missense 8.656e-06 1 115522 0 0.0 1.0
pth1r_human 419 6.51x51 TM6 V => I missense 5.166e-05 6 116138 0 0.06 0.999
pth1r_human 419 6.51x51 TM6 V => A missense 8.589e-06 1 116430 0 0.0 0.999
pth1r_human 431 ECL3 E => K missense 8.313e-06 1 120288 0 0.0 0.958
pth1r_human 435 7.33x32 TM7 T => M missense 5.798e-05 7 120738 0 0.04 0.965
pth1r_human 435 7.33x32 TM7 T => K missense 8.282e-06 1 120738 0 0.0 0.934
pth1r_human 437 7.35x34 TM7 W => R missense 8.271e-06 1 120908 0 0.0 1.0 LB (hydrophobic, Van der Waals, polar (hydrogen bond))
pth1r_human 443 7.41x40 TM7 Y => S missense 8.253e-06 1 121168 0 0.02 1.0
pth1r_human 453 7.51x51 TM7 F => L missense 2.49e-05 3 120476 0 0.0 1.0
pth1r_human 455 7.53x53 TM7 V => L missense 8.303e-06 1 120434 0 0.0 0.999 SodiumPocket MicroSwitch
pth1r_human 456 7.54x54 TM7 A => T missense 2.491e-05 3 120424 0 0.0 1.0 SodiumPocket MicroSwitch
pth1r_human 458 7.56x56 TM7 I => L missense 1.661e-05 2 120426 0 0.01 0.995 LB (hydrophobic, Van der Waals, polar (hydrogen bond with backbone))
pth1r_human 464 8.48x48 H8 G => S missense 1.663e-05 2 120242 0 0.0 1.0 GP (contact)
pth1r_human 467 8.51x51 H8 Q => R missense 2.622e-05 3 114406 0 0.0 0.533 GP (contact)
pth1r_human 472 8.56x56 H8 K => N missense 8.643e-06 1 115696 0 0.0 1.0
pth1r_human 475 8.59x59 H8 S => N missense 8.593e-06 1 116378 0 0.11 0.883
pth1r_human 476 8.60x60 H8 R => C missense 8.584e-06 1 116496 0 0.0 1.0
pth1r_human 476 8.60x60 H8 R => H missense 3.429e-05 4 116662 0 0.0 0.999
pth1r_human 485 8.69x69 H8 R => Q missense 8.424e-06 1 118712 0 0.35 0.918
pth1r_human 488 8.72x72 H8 R => C missense 5.045e-05 6 118930 0 0.0 0.998
pth1r_human 488 8.72x72 H8 R => H missense 8.41e-06 1 118906 0 0.02 0.996
pth1r_human 490 C-term G => R missense 3.358e-05 4 119124 0 0.0 0.632
pth1r_human 491 C-term S => N missense 8.384e-06 1 119280 0 0.04 0.999 PTM (Phosphorylation)
pth1r_human 497 C-term G => S missense 1.674e-05 2 119484 0 0.04 0.971
pth1r_human 508 C-term V => I missense 8.365e-06 1 119550 0 0.11 0.079
pth1r_human 511 C-term R => H missense 3.346e-05 4 119538 0 0.01 0.995
pth1r_human 513 C-term G => E missense 8.372e-06 1 119446 0 nan 1.0
pth1r_human 515 C-term G => S missense 1.674e-05 2 119494 0 nan 0.268
pth1r_human 517 C-term P => H missense 8.368e-06 1 119496 0 0.6 0.938
pth1r_human 521 C-term R => C missense 5.021e-05 6 119500 0 0.0 0.999
pth1r_human 521 C-term R => H missense 2.511e-05 3 119464 0 nan 0.998
pth1r_human 529 C-term N => S missense 8.354e-06 1 119698 0 0.24 0.996
pth1r_human 532 C-term P => H missense 8.345e-06 1 119834 0 0.27 0.605
pth1r_human 546 C-term E => K missense 0.01661 2000 120398 27 0.34 0.979
pth1r_human 547 C-term T => N missense 8.303e-06 1 120434 0 0.16 0.003 PTM (Phosphorylation)
pth1r_human 548 C-term L => P missense 8.302e-06 1 120450 0 0.06 0.466
pth1r_human 549 C-term E => K missense 0.0003569 43 120480 0 0.26 0.176
pth1r_human 553 C-term P => R missense 1.658e-05 2 120602 0 0.05 0.474
pth1r_human 555 C-term M => V missense 8.289e-06 1 120642 0 0.52 0.001
pth1r_human 558 C-term P => S missense 4.144e-05 5 120648 0 0.07 0.06
pth1r_human 558 C-term P => L missense 8.289e-06 1 120648 0 0.02 0.705
pth1r_human 561 C-term D => N missense 1.658e-05 2 120636 0 0.16 0.004
pth1r_human 561 C-term D => Y missense 1.658e-05 2 120636 0 0.01 0.886
pth1r_human 562 C-term G => R missense 8.29e-06 1 120622 0 0.09 0.929
pth1r_human 566 C-term G => S missense 3.322e-05 4 120412 0 0.17 1.0
pth1r_human 571 C-term L => V missense 8.323e-06 1 120152 0 0.17 0.995
pth1r_human 572 C-term D => E missense 8.329e-06 1 120058 0 0.27 0.998
pth1r_human 575 C-term A => G missense 1.668e-05 2 119934 0 0.07 0.477
pth1r_human 578 C-term P => H missense 8.349e-06 1 119776 0 0.01 0.889
pth1r_human 579 C-term E => A missense 2.505e-05 3 119752 0 0.14 0.009
pth1r_human 580 C-term R => W missense 1.671e-05 2 119708 0 0.0 0.847
pth1r_human 580 C-term R => Q missense 5.011e-05 6 119732 0 0.09 0.015
pth1r_human 581 C-term P => R missense 8.354e-05 10 119700 1 0.0 0.923
pth1r_human 585 C-term L => V missense 2.509e-05 3 119554 0 nan 0.995


Residue

Diagrams

ICL1 R R L H ICL1ECL1 L D E A E R L T E E E L R A I A Q A P P P P A T A A A ECL1ICL2 A F F ICL2ECL2 N T G C W D L S S ECL2ICL3 R E T N A G R C ICL3ECL3 P Y T E V S ECL3N-term M G T A R I A P G L A L L L C C P V L S S A Y A L V D A D D V M T K E E Q I F L L H R A Q A Q C E K R L K E V L Q R P A S I M E S D K G W T S A S T S G K P R K D K A S G K L Y P E S E E D K E A P T G S R Y R G R P C L P E W D H I L C W P L G A P G E V V A V P C P D Y I Y D F N H K G H A Y R R C D R N G S W E L V P G H N R T W A N Y S E C V K N-termC-term S G S S S Y S Y G P M V S H T S V T N V G P R V G L G L P L S P R L L P T A T T N G H P Q L P G H A K P G T P A L E T L E T T P P A M A A P K D D G F L N G S C S G L D E E A S G P E R P P A L L Q E E W E T V M C-term F L T N E T R E R E V F D R L G M I Y T V G Y S V S L A S L T V A V L I L A Y F C T R N Y I H M H L F L S F M L R A V S I F V K D A V L Y S G A T G Y A G C R V A V T F F L Y F L A T N Y Y W I L V E G L Y L H S L I F M S E K K Y L W G F T V F G W G L P A V F V A V W V S V R A T L A G N K K W I I Q V P I L A S I V L N F I L F I N I V R V L A T K L D T R Q Q Y R K L L K S T L V L M P L F G V H Y I V F M A T G T L W Q V Q M H Y E M L F N S F Q G F F V A I I Y C F C N G E I K K W T L K R K V Q A E S W S R A L D F A R
SnakePlot Download: PNG | SVG T L S A L S V S Y G V T Y I M G L R D F 1 M H L F L S F M L R A V S I F V K D A V 2 V L I W Y Y N T A L F Y L F F T V A V R 3 Y L W G F T V G F W G L P A V F V A V W V 4 F L I F N L V I S A L I P V Q I I W K K N 5 L V L M P L F G V H Y I V F M A T 6 I A V F F G Q F S N F L M E Y H M Q V 7
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