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
bkrb1_human 59 1.54x54 TM1 L => CysfsTer11 frameshift 8.237e-06 1 121400 0 None None
bkrb1_human 70 2.37x37 TM2 N => LysfsTer14 frameshift 8.238e-06 1 121392 0 None None
bkrb1_human 87 2.54x54 TM2 V => CysfsTer16 frameshift 8.238e-06 1 121392 0 None None
bkrb1_human 102 23.49x49 ECL1 N => Ter frameshift 8.239e-06 1 121372 0 None None
bkrb1_human 158 4.46x46 TM4 C => Ter stop gained 8.73e-06 1 114552 0 None None
bkrb1_human 166 4.54x54 TM4 G => AlafsTer3 frameshift 8.652e-06 1 115576 0 None None
bkrb1_human 172 4.60x61 TM4 T => HisfsTer25 frameshift 8.501e-06 1 117640 0 None None
bkrb1_human 179 ECL2 Q => Ter stop gained 1.657e-05 2 120676 0 None None
bkrb1_human 230 5.66x66 TM5 R => Ter stop gained 2.472e-05 3 121348 0 None None GP (contact)
bkrb1_human 282 ECL3 R => Ter stop gained 0.002833 344 121408 2 None None
bkrb1_human 278 6.63x63 TM6 V => Ter stop gained 8.116e-05 1 12322 0 None None
bkrb1_human 4 N-term S => F missense 8.734e-06 1 114490 0 0.0 0.571
bkrb1_human 7 N-term P => L missense 8.54e-06 1 117096 0 nan 0.007
bkrb1_human 9 N-term E => A missense 8.453e-06 1 118296 0 0.21 0.011
bkrb1_human 10 N-term L => F missense 4.219e-05 5 118520 0 0.33 0.014
bkrb1_human 15 N-term Q => K missense 8.328e-06 1 120076 0 0.05 0.161
bkrb1_human 16 N-term S => R missense 8.315e-06 1 120264 0 0.03 0.979
bkrb1_human 16 N-term S => G missense 8.315e-06 1 120264 0 0.0 0.907
bkrb1_human 18 N-term L => P missense 3.316e-05 4 120610 0 0.3 0.006
bkrb1_human 19 N-term F => L missense 0.0001077 13 120672 0 0.35 0.002
bkrb1_human 21 N-term Q => R missense 1.655e-05 2 120824 0 0.28 0.19
bkrb1_human 24 N-term T => M missense 0.0001157 14 120972 0 0.0 0.995
bkrb1_human 29 N-term A => P missense 3.301e-05 4 121168 0 0.17 0.864
bkrb1_human 30 1.25x25 TM1 P => S missense 8.252e-06 1 121190 0 0.3 0.017
bkrb1_human 30 1.25x25 TM1 P => L missense 8.251e-06 1 121192 0 0.11 0.005
bkrb1_human 32 1.27x27 TM1 A => G missense 8.249e-06 1 121230 0 0.07 0.493
bkrb1_human 34 1.29x29 TM1 D => V missense 0.0001732 21 121268 0 0.02 0.735
bkrb1_human 34 1.29x29 TM1 D => G missense 8.246e-06 1 121268 0 0.08 0.034
bkrb1_human 41 1.36x36 TM1 P => L missense 0.0008899 108 121356 0 0.0 1.0
bkrb1_human 46 1.41x41 TM1 S => F missense 8.237e-06 1 121398 0 0.11 0.263
bkrb1_human 51 1.46x46 TM1 G => S missense 5.769e-05 7 121348 0 0.01 0.922
bkrb1_human 55 1.50x50 TM1 N => H missense 8.237e-06 1 121402 0 0.0 1.0
bkrb1_human 55 1.50x50 TM1 N => K missense 8.237e-06 1 121400 0 0.0 1.0
bkrb1_human 56 1.51x51 TM1 L => F missense 5.766e-05 7 121400 0 0.07 0.2
bkrb1_human 56 1.51x51 TM1 L => P missense 8.237e-06 1 121398 0 0.01 0.95
bkrb1_human 60 1.55x55 TM1 L => S missense 3.295e-05 4 121400 0 0.43 0.002
bkrb1_human 66 12.48x48 ICL1 R => W missense 1.648e-05 2 121386 0 0.02 0.212
bkrb1_human 66 12.48x48 ICL1 R => Q missense 8.239e-06 1 121380 0 0.05 0.463
bkrb1_human 67 12.49x49 ICL1 R => W missense 0.0001401 17 121368 0 0.05 0.091
bkrb1_human 67 12.49x49 ICL1 R => Q missense 8.238e-06 1 121392 0 0.48 0.043
bkrb1_human 70 2.37x37 TM2 N => K missense 8.238e-06 1 121388 0 0.41 0.019
bkrb1_human 71 2.38x38 TM2 V => L missense 8.238e-06 1 121394 0 0.0 0.501
bkrb1_human 71 2.38x38 TM2 V => M missense 8.238e-06 1 121394 0 0.0 0.931
bkrb1_human 71 2.38x38 TM2 V => A missense 3.295e-05 4 121390 0 0.07 0.058
bkrb1_human 74 2.41x41 TM2 I => N missense 1.648e-05 2 121390 0 0.0 0.954
bkrb1_human 76 2.43x43 TM2 L => M missense 8.238e-06 1 121392 0 0.0 1.0
bkrb1_human 83 2.50x50 TM2 D => A missense 4.119e-05 5 121392 0 0.0 1.0
bkrb1_human 90 2.57x57 TM2 L => F missense 8.238e-06 1 121384 0 0.01 1.0
bkrb1_human 94 2.61x61 TM2 A => E missense 4.943e-05 6 121386 0 0.0 1.0
bkrb1_human 96 2.63x63 TM2 N => S missense 8.238e-06 1 121388 0 0.01 0.943
bkrb1_human 97 2.64x64 TM2 I => L missense 8.238e-06 1 121386 0 0.01 0.548
bkrb1_human 106 3.21x21 TM3 G => R missense 2.474e-05 3 121258 0 0.0 0.999
bkrb1_human 111 3.26x26 TM3 R => C missense 3.306e-05 4 120980 0 0.01 0.984
bkrb1_human 111 3.26x26 TM3 R => G missense 8.266e-06 1 120980 0 0.0 0.89
bkrb1_human 111 3.26x26 TM3 R => H missense 1.654e-05 2 120952 0 0.0 0.977
bkrb1_human 114 3.29x29 TM3 N => K missense 0.0001495 18 120430 0 0.0 0.968 LB (Van der Waals)
bkrb1_human 115 3.30x30 TM3 G => R missense 8.308e-06 1 120360 0 0.01 0.998
bkrb1_human 115 3.30x30 TM3 G => W missense 8.308e-06 1 120360 0 0.0 1.0
bkrb1_human 116 3.31x31 TM3 V => F missense 8.321e-06 1 120176 0 0.1 0.854
bkrb1_human 117 3.32x32 TM3 I => V missense 8.338e-06 1 119926 0 0.03 0.779 LB (hydrophobic, Van der Waals)
bkrb1_human 120 3.35x35 TM3 N => S missense 5.023e-05 6 119460 0 0.0 0.949
bkrb1_human 121 3.36x36 TM3 L => F missense 1.679e-05 2 119154 0 0.01 0.997 LB (hydrophobic, Van der Waals)
bkrb1_human 123 3.38x38 TM3 I => V missense 8.413e-06 1 118860 0 0.18 0.034
bkrb1_human 133 3.48x48 TM3 Q => R missense 8.572e-06 1 116662 0 0.32 0.015
bkrb1_human 135 3.50x50 TM3 R => C missense 8.621e-05 10 116002 0 0.0 1.0 SodiumPocket MicroSwitch GP (contact)
bkrb1_human 135 3.50x50 TM3 R => L missense 3.46e-05 4 115610 0 0.0 0.998 SodiumPocket MicroSwitch GP (contact)
bkrb1_human 135 3.50x50 TM3 R => H missense 2.595e-05 3 115610 0 0.0 0.999 SodiumPocket MicroSwitch GP (contact)
bkrb1_human 137 3.52x52 TM3 R => C missense 3.464e-05 4 115464 0 0.13 0.011
bkrb1_human 138 3.53x53 TM3 V => M missense 1.736e-05 2 115238 0 0.0 0.763 GP (contact)
bkrb1_human 138 3.53x53 TM3 V => L missense 8.678e-06 1 115238 0 0.04 0.028 GP (contact)
bkrb1_human 141 3.56x56 TM3 H => Y missense 7.844e-05 9 114744 0 0.08 0.045 GP (contact)
bkrb1_human 141 3.56x56 TM3 H => R missense 8.713e-06 1 114766 0 0.13 0.687 GP (contact)
bkrb1_human 143 34.51x51 ICL2 M => V missense 2.62e-05 3 114514 0 0.07 0.018 GP (contact)
bkrb1_human 143 34.51x51 ICL2 M => R missense 3.495e-05 4 114444 0 0.04 0.064 GP (contact)
bkrb1_human 146 34.54x54 ICL2 R => W missense 7.012e-05 8 114094 0 0.08 0.041 GP (contact)
bkrb1_human 146 34.54x54 ICL2 R => Q missense 2.63e-05 3 114090 0 0.27 0.104 GP (contact)
bkrb1_human 147 34.55x55 ICL2 R => G missense 8.766e-06 1 114074 0 0.27 0.015 GP (contact)
bkrb1_human 149 4.37x37 TM4 Q => R missense 8.78e-06 1 113898 0 1.0 0.001
bkrb1_human 150 4.38x38 TM4 R => W missense 4.397e-05 5 113720 0 0.02 0.177
bkrb1_human 150 4.38x38 TM4 R => Q missense 0.000167 19 113752 0 0.12 0.22
bkrb1_human 151 4.39x39 TM4 R => W missense 6.154e-05 7 113744 0 0.04 0.333
bkrb1_human 151 4.39x39 TM4 R => P missense 8.779e-06 1 113902 0 0.15 0.349
bkrb1_human 151 4.39x39 TM4 R => Q missense 4.39e-05 5 113902 0 0.21 0.396
bkrb1_human 155 4.43x43 TM4 R => W missense 0.0001666 19 114018 0 0.0 0.899
bkrb1_human 155 4.43x43 TM4 R => Q missense 8.764e-06 1 114106 0 0.29 0.011
bkrb1_human 157 4.45x45 TM4 T => I missense 8.739e-06 1 114432 0 0.69 0.021
bkrb1_human 158 4.46x46 TM4 C => R missense 1.746e-05 2 114556 0 0.0 1.0
bkrb1_human 158 4.46x46 TM4 C => Y missense 8.729e-06 1 114564 0 0.0 1.0
bkrb1_human 165 4.53x53 TM4 G => R missense 8.64e-06 1 115742 0 0.0 0.998
bkrb1_human 176 4.64x65 TM4 R => Q missense 1.665e-05 2 120120 0 0.0 0.998 LB (polar (charge-assisted hydrogen bond))
bkrb1_human 176 4.64x65 TM4 R => L missense 8.325e-06 1 120120 0 0.0 0.999 LB (polar (charge-assisted hydrogen bond))
bkrb1_human 179 ECL2 Q => E missense 8.287e-06 1 120676 0 0.21 0.004
bkrb1_human 181 ECL2 V => I missense 8.262e-06 1 121030 0 0.42 0.062
bkrb1_human 181 ECL2 V => A missense 8.26e-06 1 121072 0 0.01 0.605
bkrb1_human 188 ECL2 A => T missense 1.648e-05 2 121334 0 0.0 0.989
bkrb1_human 188 ECL2 A => P missense 8.242e-06 1 121334 0 0.0 0.999
bkrb1_human 189 45.50x50 ECL2 C => Y missense 8.241e-06 1 121350 0 0.0 0.997 LB (polar (hydrogen bond with backbone), Van der Waals)
bkrb1_human 190 45.51x51 ECL2 I => F missense 8.24e-06 1 121356 0 0.11 0.702 LB (hydrophobic, Van der Waals)
bkrb1_human 191 45.52x52 ECL2 L => V missense 0.002447 297 121370 0 0.0 1.0 LB (polar (hydrogen bond with backbone), Van der Waals)
bkrb1_human 195 5.31x32 TM5 H => N missense 4.119e-05 5 121392 0 0.36 0.39
bkrb1_human 195 5.31x32 TM5 H => Y missense 8.238e-06 1 121392 0 0.09 0.828
bkrb1_human 195 5.31x32 TM5 H => R missense 0.0001565 19 121396 0 0.13 0.548
bkrb1_human 197 5.33x34 TM5 A => G missense 1.647e-05 2 121400 0 0.3 0.013
bkrb1_human 199 5.35x36 TM5 H => D missense 1.647e-05 2 121406 0 0.31 0.124
bkrb1_human 199 5.35x36 TM5 H => Y missense 8.237e-06 1 121406 0 0.19 0.028
bkrb1_human 214 5.50x50 TM5 P => L missense 2.471e-05 3 121406 0 0.0 0.976 SodiumPocket MicroSwitch
bkrb1_human 216 5.52x52 TM5 A => T missense 0.0001071 13 121404 0 0.52 0.034
bkrb1_human 217 5.53x53 TM5 A => V missense 8.237e-06 1 121402 0 0.11 0.967
bkrb1_human 218 5.54x54 TM5 I => V missense 8.237e-06 1 121402 0 0.01 0.884
bkrb1_human 219 5.55x55 TM5 V => I missense 4.119e-05 5 121402 0 0.83 0.006
bkrb1_human 220 5.56x56 TM5 F => V missense 8.237e-06 1 121400 0 0.02 0.957
bkrb1_human 222 5.58x58 TM5 N => S missense 8.237e-06 1 121398 0 0.14 0.936 SodiumPocket MicroSwitch
bkrb1_human 225 5.61x61 TM5 I => F missense 0.0008402 102 121394 2 0.0 0.933 GP (contact)
bkrb1_human 228 5.64x64 TM5 S => F missense 8.239e-06 1 121372 0 0.0 0.95 GP (contact)
bkrb1_human 230 5.66x66 TM5 R => Q missense 4.945e-05 6 121336 0 0.15 0.32 GP (contact)
bkrb1_human 231 5.67x67 TM5 T => M missense 2.472e-05 3 121354 0 0.08 0.036 GP (contact)
bkrb1_human 232 5.68x68 TM5 R => W missense 8.241e-05 10 121340 0 0.03 0.212 GP (contact)
bkrb1_human 234 5.70x70 TM5 E => K missense 4.119e-05 5 121388 0 0.3 0.077
bkrb1_human 235 5.71x71 TM5 V => I missense 8.238e-06 1 121386 0 0.28 0.007 GP (contact)
bkrb1_human 236 5.72x72 TM5 S => R missense 8.238e-06 1 121384 0 0.64 0.005 GP (contact)
bkrb1_human 241 ICL3 G => R missense 0.006188 751 121368 11 0.1 0.944
bkrb1_human 241 ICL3 G => R missense 8.239e-06 1 121368 0 0.1 0.944
bkrb1_human 242 ICL3 G => S missense 1.648e-05 2 121382 0 0.26 0.608
bkrb1_human 242 ICL3 G => V missense 8.238e-06 1 121382 0 0.19 0.119
bkrb1_human 243 ICL3 R => C missense 0.0008403 102 121384 2 0.04 0.533
bkrb1_human 243 ICL3 R => L missense 8.239e-06 1 121378 0 0.27 0.002
bkrb1_human 243 ICL3 R => H missense 2.472e-05 3 121378 0 0.57 0.004
bkrb1_human 249 6.34x34 TM6 T => R missense 4.119e-05 5 121386 0 0.0 0.979 SodiumPocket MicroSwitch
bkrb1_human 250 6.35x35 TM6 A => V missense 0.0003378 41 121382 0 0.56 0.027
bkrb1_human 254 6.39x39 TM6 T => P missense 8.238e-06 1 121382 0 0.01 0.928
bkrb1_human 254 6.39x39 TM6 T => M missense 0.0001236 15 121374 0 0.13 0.493
bkrb1_human 256 6.41x41 TM6 V => M missense 5.767e-05 7 121386 0 0.0 1.0
bkrb1_human 262 6.47x47 TM6 C => F missense 5.767e-05 7 121390 0 0.0 1.0
bkrb1_human 263 6.48x48 TM6 W => R missense 4.943e-05 6 121392 0 0.02 1.0 SodiumPocket MicroSwitch
bkrb1_human 267 6.52x52 TM6 H => Y missense 6.59e-05 8 121392 1 0.0 1.0
bkrb1_human 276 6.61x61 TM6 F => L missense 8.237e-06 1 121398 0 0.43 0.015 LB (hydrophobic, Van der Waals)
bkrb1_human 278 6.63x63 TM6 V => M missense 8.237e-06 1 121404 0 0.24 0.22
bkrb1_human 280 ECL3 A => E missense 8.237e-06 1 121408 0 0.04 0.903
bkrb1_human 282 ECL3 R => G missense 0.0005354 65 121408 0 0.35 0.019
bkrb1_human 282 ECL3 R => Q missense 3.295e-05 4 121410 0 0.8 0.008
bkrb1_human 282 ECL3 R => P missense 8.237e-06 1 121410 0 0.24 0.031
bkrb1_human 290 7.31x30 TM7 I => T missense 4.118e-05 5 121410 0 0.67 0.007
bkrb1_human 291 7.32x31 TM7 D => N missense 2.471e-05 3 121410 0 0.39 0.9 LB (polar (charge-assisted hydrogen bond))
bkrb1_human 293 7.34x33 TM7 G => D missense 8.237e-06 1 121410 0 0.0 0.999
bkrb1_human 296 7.37x36 TM7 L => W missense 8.237e-06 1 121410 0 0.21 0.017
bkrb1_human 298 7.39x38 TM7 N => K missense 8.237e-06 1 121410 0 0.11 0.438 LB (polar (hydrogen bond))
bkrb1_human 303 7.44x43 TM7 T => A missense 1.647e-05 2 121410 0 0.38 0.01 SodiumPocket MicroSwitch
bkrb1_human 310 7.51x51 TM7 V => L missense 0.0004449 54 121384 0 0.06 0.198
bkrb1_human 313 7.54x54 TM7 V => I missense 8.241e-06 1 121346 0 0.01 0.932
bkrb1_human 314 7.55x55 TM7 F => L missense 8.242e-06 1 121326 0 0.04 0.263 GP (contact)
bkrb1_human 317 8.48x48 H8 R => W missense 0.0002391 29 121306 0 nan 0.487 GP (contact)
bkrb1_human 317 8.48x48 H8 R => Q missense 0.006282 762 121300 22 nan 0.038 GP (contact)
bkrb1_human 320 8.51x51 H8 R => M missense 8.245e-06 1 121288 0 0.0 0.959 GP (contact)
bkrb1_human 321 8.52x52 H8 T => A missense 1.649e-05 2 121278 0 nan 0.045
bkrb1_human 322 8.53x53 H8 K => N missense 4.123e-05 5 121262 0 0.0 0.807
bkrb1_human 327 8.58x58 H8 Y => H missense 8.249e-06 1 121222 0 0.1 0.935
bkrb1_human 330 C-term C => Y missense 8.254e-06 1 121154 0 0.66 0.004
bkrb1_human 336 C-term A => T missense 1.652e-05 2 121042 0 0.71 0.002
bkrb1_human 337 C-term P => L missense 8.267e-06 1 120970 0 0.37 0.004
bkrb1_human 338 C-term I => V missense 5.787e-05 7 120956 0 1.0 0.0
bkrb1_human 348 C-term Q => P missense 8.37e-06 1 119472 0 0.09 0.003
bkrb1_human 352 C-term R => W missense 0.0008288 98 118244 0 nan 0.482
bkrb1_human 352 C-term R => Q missense 2.538e-05 3 118212 0 nan 0.003


Residue

Diagrams

ICL1 R R Q L ICL1ECL1 F N W P F ECL1ICL2 P M A S R R Q ICL2ECL2 S I Q A V P D L N I T A C I L L L P ECL2ICL3 C G G R K D ICL3ECL3 A V R ECL3N-term M A S S W P P L E L Q S S N Q S Q L F P Q N A T A C D N A N-termC-term Q C T P K S L A P I S S S H R K E I F Q L F W R N C-term P E A W D L L H R V L P T F I I S I C F F G L L G N L F V L L V F L L P N V A E I Y L A N L A A S D L V F V L G L P F W A E N I W N Q G A L L C R V I N G V I K A N L F I S I F L V V A I S Q D R Y R V L V H Q R R R Q A R V T C V L I W V V G G L L S I P T F L L R H E A W H F A R I V E L N I L G F L L P L A A I V F F N Y H I L A S L R T R E E V S R T R S K T T A L I L T L V V A F L V C W A P Y H F F A F L E F L F Q V Q G C F W E D F I D L G L Q L A N F F A F T N S S L N P V I Y V F V G R L V W E F R T K L Y K
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