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
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 (aromatic (edge-to-face))
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 4.38x38 TM4 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 ECL2 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)
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
smo_human 423 5.66x66 TM5 V => F missense 8.606e-06 1 116192 0 0.01 0.088
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 GP (contact)
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), polar (charge-charge))
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
smo_human 485 6.66x66 TM6 R => Q missense 8.367e-06 1 119524 0 0.06 0.44
smo_human 488 6.69x69 TM6 V => M missense 4.229e-05 5 118218 0 0.17 0.42
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
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
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
smo_human 588 C-term S => Y missense 5.016e-05 6 119606 0 nan 0.99
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
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


Residue

Diagrams

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