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
gabr1_human 329 N-term R => Ter stop gained 8.28e-06 1 120774 0 None None
gabr1_human 131 N-term C => Ter stop gained 1.886e-05 2 106072 0 None None
gabr1_human 101 N-term S => Ter stop gained 7.454e-05 2 26830 0 None None
gabr1_human 96 N-term C => LeufsTer10 frameshift 8.324e-06 1 120132 0 None None
gabr1_human 17 N-term A => ArgfsTer46 frameshift 0.0001421 1 7036 0 None None
gabr1_human 955 C-term R => Q missense 0.000636 18 28302 0 nan 0.342
gabr1_human 948 C-term R => Q missense 0.0003841 17 44258 0 nan 0.885
gabr1_human 948 C-term R => W missense 2.173e-05 1 46022 0 nan 0.973
gabr1_human 942 C-term P => H missense 1.733e-05 1 57708 0 nan 0.863
gabr1_human 937 C-term G => S missense 3.133e-05 2 63846 0 nan 0.013
gabr1_human 930 C-term T => I missense 1.417e-05 1 70580 0 nan 0.387 PTM (Phosphorylation)
gabr1_human 929 C-term P => L missense 0.0002515 18 71562 0 0.09 0.003
gabr1_human 927 C-term H => R missense 1.369e-05 1 73048 0 0.73 0.001
gabr1_human 925 C-term R => W missense 1.331e-05 1 75140 0 0.0 0.99
gabr1_human 924 C-term S => F missense 1.322e-05 1 75654 0 0.01 0.641 PTM (Phosphorylation)
gabr1_human 923 C-term R => C missense 2.62e-05 2 76330 0 0.0 0.996
gabr1_human 922 C-term L => F missense 1.303e-05 1 76748 0 0.03 0.996
gabr1_human 921 C-term Q => H missense 1.299e-05 1 76972 0 0.04 0.66
gabr1_human 913 C-term R => H missense 1.265e-05 1 79074 0 0.01 0.759
gabr1_human 902 C-term I => V missense 6.85e-05 8 116788 0 0.0 0.99
gabr1_human 884 C-term E => G missense 8.574e-06 1 116630 0 0.0 0.716
gabr1_human 884 C-term E => K missense 8.574e-06 1 116626 0 0.04 0.786
gabr1_human 882 C-term N => S missense 8.575e-06 1 116620 0 0.17 0.997
gabr1_human 881 C-term N => D missense 8.576e-06 1 116610 0 0.05 0.997
gabr1_human 874 8.56x56 H8 M => L missense 5.151e-05 6 116488 0 0.73 0.004
gabr1_human 871 8.53x53 H8 Q => R missense 8.588e-06 1 116440 0 0.14 0.912
gabr1_human 868 8.50x50 H8 S => L missense 8.59e-06 1 116416 0 0.02 0.944 PTM (Phosphorylation)
gabr1_human 858 7.53x53 TM7 R => H missense 8.594e-06 1 116360 0 0.1 1.0
gabr1_human 843 7.38x39 TM7 F => S missense 8.612e-06 1 116112 0 0.0 0.999
gabr1_human 841 7.36x37 TM7 I => V missense 1.722e-05 2 116118 0 0.37 0.058
gabr1_human 806 6.40x40 TM6 G => V missense 8.584e-06 1 116492 0 0.0 1.0
gabr1_human 800 ICL3 N => S missense 8.582e-06 1 116520 0 0.04 0.906
gabr1_human 788 5.58x58 TM5 A => S missense 8.589e-06 1 116422 0 0.06 0.999 SodiumPocket MicroSwitch
gabr1_human 779 5.49x49 TM5 L => V missense 8.606e-06 1 116198 0 0.01 0.832
gabr1_human 768 5.38x38 TM5 T => I missense 8.601e-06 1 116264 0 0.63 0.704
gabr1_human 766 5.36x36 TM5 M => V missense 8.601e-06 1 116270 0 0.16 0.497
gabr1_human 753 ECL2 S => C missense 8.599e-06 1 116288 0 0.05 0.799
gabr1_human 752 ECL2 V => F missense 8.599e-06 1 116286 0 0.02 0.813
gabr1_human 752 ECL2 V => I missense 1.72e-05 2 116286 0 0.39 0.035
gabr1_human 738 ECL2 I => T missense 8.513e-06 1 117474 0 0.14 0.026
gabr1_human 737 ECL2 T => I missense 8.505e-06 1 117584 0 0.1 0.954
gabr1_human 736 ECL2 R => Q missense 8.495e-05 10 117712 1 0.05 0.883
gabr1_human 736 ECL2 R => W missense 8.489e-06 1 117798 0 0.0 0.971
gabr1_human 736 ECL2 R => G missense 8.489e-06 1 117798 0 0.0 0.889
gabr1_human 735 ECL2 H => Y missense 8.479e-06 1 117936 0 0.16 0.745
gabr1_human 731 4.53x53 TM4 V => M missense 1.688e-05 2 118472 0 0.04 0.672
gabr1_human 726 4.48x48 TM4 A => V missense 8.389e-06 1 119204 0 0.92 0.026
gabr1_human 726 4.48x48 TM4 A => T missense 8.386e-06 1 119240 0 0.23 0.027
gabr1_human 725 4.47x47 TM4 L => F missense 8.363e-06 1 119580 0 0.0 0.993
gabr1_human 714 4.36x36 TM4 V => L missense 8.285e-06 1 120704 0 0.12 0.211
gabr1_human 707 4.29x29 TM4 P => R missense 2.476e-05 3 121160 0 0.01 0.783
gabr1_human 706 4.28x28 TM4 E => G missense 1.65e-05 2 121198 0 0.01 0.957
gabr1_human 702 ICL2 R => M missense 8.237e-06 1 121410 0 0.03 0.915
gabr1_human 692 3.58x58 TM3 F => S missense 2.471e-05 3 121412 0 0.17 0.979 GP (contact)
gabr1_human 679 3.45x45 TM3 G => S missense 8.237e-06 1 121400 0 0.04 0.976
gabr1_human 672 3.38x38 TM3 L => P missense 8.242e-06 1 121334 0 0.0 0.989
gabr1_human 662 3.28x28 TM3 V => I missense 1.732e-05 2 115460 0 0.47 0.049
gabr1_human 660 3.26x26 TM3 P => S missense 8.635e-06 1 115810 0 0.11 0.989
gabr1_human 659 3.25x25 TM3 F => L missense 8.624e-06 1 115960 0 0.05 0.904
gabr1_human 655 ECL1 G => R missense 0.0002669 31 116128 0 0.34 0.004
gabr1_human 645 2.54x54 TM2 F => L missense 0.001118 130 116250 3 0.11 0.216
gabr1_human 643 2.52x52 TM2 A => S missense 8.602e-06 1 116250 0 0.62 0.107
gabr1_human 632 2.41x41 TM2 L => V missense 8.606e-06 1 116196 0 0.34 0.015
gabr1_human 631 2.40x40 TM2 N => S missense 8.606e-06 1 116198 0 0.08 0.575
gabr1_human 620 12.48x48 ICL1 R => H missense 8.646e-06 1 115660 0 0.0 0.995
gabr1_human 620 12.48x48 ICL1 R => C missense 8.639e-06 1 115752 0 0.0 0.998
gabr1_human 618 ICL1 H => Q missense 8.631e-06 1 115868 0 0.03 0.104
gabr1_human 615 1.63x63 TM1 Y => C missense 8.621e-06 1 116000 0 0.08 0.998
gabr1_human 595 1.43x43 TM1 V => L missense 8.606e-06 1 116202 0 0.25 0.084
gabr1_human 595 1.43x43 TM1 V => I missense 3.442e-05 4 116202 0 0.1 0.049
gabr1_human 585 N-term R => H missense 8.606e-06 1 116192 0 0.0 0.999
gabr1_human 580 N-term V => I missense 8.608e-06 1 116170 0 0.39 0.081
gabr1_human 572 N-term S => F missense 2.585e-05 3 116044 0 0.02 0.332
gabr1_human 571 N-term G => A missense 8.619e-06 1 116018 0 0.16 0.009
gabr1_human 564 N-term K => E missense 8.593e-06 1 116376 0 0.09 0.158
gabr1_human 562 N-term W => L missense 8.594e-06 1 116364 0 0.03 0.999
gabr1_human 558 N-term D => Y missense 8.596e-06 1 116334 0 0.0 0.904
gabr1_human 557 N-term K => R missense 8.596e-06 1 116332 0 0.04 0.641
gabr1_human 554 N-term D => V missense 8.597e-06 1 116324 0 0.0 1.0
gabr1_human 514 N-term N => Y missense 8.606e-06 1 116204 0 0.0 0.975
gabr1_human 511 N-term R => Q missense 7.744e-05 9 116212 0 0.09 0.691
gabr1_human 507 N-term D => E missense 8.605e-06 1 116212 0 0.14 0.01
gabr1_human 507 N-term D => N missense 8.605e-06 1 116212 0 0.11 0.034
gabr1_human 504 N-term T => A missense 8.605e-06 1 116212 0 0.66 0.228
gabr1_human 501 N-term N => H missense 8.605e-06 1 116212 0 0.02 0.963
gabr1_human 499 N-term N => S missense 8.605e-06 1 116212 0 0.09 0.848
gabr1_human 494 N-term R => H missense 2.581e-05 3 116214 0 0.03 0.04
gabr1_human 494 N-term R => C missense 6.023e-05 7 116214 0 0.0 0.912
gabr1_human 490 N-term R => H missense 7.744e-05 9 116218 0 0.04 0.463
gabr1_human 490 N-term R => L missense 1.721e-05 2 116218 0 0.03 0.132
gabr1_human 490 N-term R => C missense 2.581e-05 3 116218 0 0.0 0.624
gabr1_human 489 N-term G => S missense 0.001015 118 116216 0 0.74 0.019
gabr1_human 488 N-term G => D missense 8.605e-06 1 116214 0 0.08 0.009
gabr1_human 463 N-term G => V missense 8.607e-06 1 116190 0 0.0 0.987
gabr1_human 451 N-term T => I missense 8.618e-06 1 116038 0 0.18 0.175
gabr1_human 442 N-term T => S missense 8.677e-06 1 115252 0 0.04 0.867
gabr1_human 436 N-term R => H missense 1.738e-05 2 115072 0 0.02 1.0
gabr1_human 416 N-term T => S missense 8.601e-06 1 116266 0 0.32 0.029
gabr1_human 409 N-term N => S missense 8.602e-06 1 116256 0 0.03 0.998
gabr1_human 408 N-term I => V missense 1.72e-05 2 116248 0 0.12 0.995
gabr1_human 356 N-term R => H missense 8.262e-06 1 121034 0 0.0 0.959
gabr1_human 351 N-term V => I missense 1.65e-05 2 121222 0 0.03 0.965
gabr1_human 345 N-term S => L missense 8.244e-06 1 121294 0 0.0 0.811
gabr1_human 343 N-term F => L missense 8.245e-06 1 121288 0 0.0 0.519
gabr1_human 339 N-term F => L missense 8.247e-06 1 121254 0 0.37 0.156
gabr1_human 336 N-term E => K missense 8.249e-06 1 121224 0 0.03 0.858
gabr1_human 315 N-term T => N missense 8.263e-06 1 121028 0 0.02 0.056
gabr1_human 305 N-term G => R missense 2.473e-05 3 121332 0 0.08 0.791
gabr1_human 279 N-term R => H missense 8.275e-06 1 120850 0 0.0 0.959
gabr1_human 277 N-term R => P missense 8.282e-06 1 120740 0 0.0 0.966
gabr1_human 277 N-term R => W missense 8.285e-06 1 120694 0 0.0 0.97
gabr1_human 263 N-term I => V missense 8.673e-06 1 115296 0 0.58 0.99
gabr1_human 261 N-term N => K missense 8.662e-06 1 115442 0 0.06 0.942
gabr1_human 214 N-term I => M missense 1.486e-05 1 67274 0 0.09 0.837
gabr1_human 207 N-term P => R missense 1.578e-05 1 63370 0 0.04 0.978
gabr1_human 193 N-term E => D missense 2.267e-05 1 44116 0 0.15 0.14
gabr1_human 169 N-term A => S missense 5.599e-05 1 17860 0 0.41 0.012
gabr1_human 164 N-term H => Y missense 1.715e-05 2 116624 0 nan 0.001
gabr1_human 163 N-term P => T missense 8.577e-06 1 116592 0 nan 0.003
gabr1_human 162 N-term T => M missense 8.579e-06 1 116558 0 nan 0.168
gabr1_human 156 N-term H => Q missense 8.65e-06 1 115606 0 0.29 0.105
gabr1_human 152 N-term T => I missense 8.639e-06 1 115760 0 nan 0.696
gabr1_human 149 N-term Q => H missense 8.633e-06 1 115834 0 0.02 0.726
gabr1_human 142 N-term R => Q missense 8.627e-06 1 115918 0 0.16 0.979
gabr1_human 142 N-term R => W missense 0.001665 193 115932 2 0.06 0.994
gabr1_human 136 N-term H => Y missense 8.624e-06 1 115962 0 0.96 0.893
gabr1_human 134 N-term D => N missense 2.587e-05 3 115960 0 0.04 0.652
gabr1_human 133 N-term P => L missense 8.624e-06 1 115958 0 0.01 0.943
gabr1_human 131 N-term C => Y missense 8.622e-06 1 115976 0 0.0 0.999
gabr1_human 130 N-term R => Q missense 8.623e-06 1 115974 0 0.13 0.979
gabr1_human 130 N-term R => W missense 1.725e-05 2 115972 0 0.02 0.994
gabr1_human 127 N-term V => M missense 1.725e-05 2 115936 0 nan 0.961
gabr1_human 126 N-term R => Q missense 8.627e-06 1 115916 0 0.3 0.771
gabr1_human 126 N-term R => W missense 8.626e-06 1 115922 0 nan 0.876
gabr1_human 125 N-term A => V missense 8.627e-06 1 115920 0 nan 0.827
gabr1_human 124 N-term G => A missense 8.628e-06 1 115908 0 0.0 0.999
gabr1_human 124 N-term G => R missense 0.0001035 12 115916 0 0.0 1.0
gabr1_human 119 N-term L => F missense 8.632e-06 1 115844 0 nan 0.86
gabr1_human 118 N-term D => A missense 1.727e-05 2 115798 0 nan 0.857
gabr1_human 118 N-term D => G missense 8.636e-06 1 115798 0 nan 0.811
gabr1_human 115 N-term T => M missense 5.186e-05 6 115698 0 nan 0.93
gabr1_human 114 N-term L => M missense 8.647e-06 1 115642 0 nan 0.899
gabr1_human 112 N-term V => I missense 8.653e-06 1 115562 0 0.03 0.453
gabr1_human 101 N-term S => A missense 2.612e-05 3 114850 0 0.05 0.714
gabr1_human 95 N-term R => S missense 1.664e-05 2 120168 0 0.0 0.997
gabr1_human 90 N-term M => T missense 1.658e-05 2 120616 0 0.0 0.974
gabr1_human 83 N-term A => G missense 4.959e-05 6 120988 0 0.11 0.743
gabr1_human 80 N-term K => R missense 8.261e-06 1 121044 0 0.01 0.999
gabr1_human 78 N-term V => F missense 8.26e-06 1 121068 0 0.0 0.999
gabr1_human 74 N-term V => L missense 8.257e-06 1 121108 0 0.03 0.971
gabr1_human 70 N-term E => K missense 8.256e-06 1 121118 0 nan 0.74
gabr1_human 70 N-term E => Q missense 8.256e-06 1 121118 0 nan 0.857
gabr1_human 65 N-term Y => H missense 1.65e-05 2 121178 0 nan 0.961
gabr1_human 56 N-term F => V missense 8.249e-06 1 121232 0 nan 0.042
gabr1_human 55 N-term N => S missense 8.249e-06 1 121224 0 nan 0.652
gabr1_human 35 N-term P => R missense 8.286e-06 1 120692 0 0.0 1.0
gabr1_human 35 N-term P => L missense 8.286e-06 1 120692 0 0.0 1.0
gabr1_human 32 N-term I => N missense 8.297e-06 1 120532 0 0.0 0.989
gabr1_human 31 N-term Q => R missense 6.642e-05 8 120446 0 nan 0.08
gabr1_human 30 N-term C => S missense 8.307e-06 1 120386 0 0.01 0.995
gabr1_human 29 N-term G => V missense 8.314e-06 1 120282 0 nan 0.997
gabr1_human 20 N-term A => V missense 0.05383 431 8006 9 0.14 0.0
gabr1_human 13 N-term R => C missense 0.0002882 2 6940 0 nan 0.0


Residue

Diagrams

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