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
p2y12_human 247 6.46x461 TM6 I => ValfsTer14 frameshift 8.259e-06 1 121086 0 None None
p2y12_human 199 5.48x48 TM5 W => Ter stop gained 8.255e-06 1 121136 0 None None
p2y12_human 180 ECL2 S => Ter stop gained 8.244e-06 1 121304 0 None None
p2y12_human 127 3.55x55 TM3 T => ProfsTer34 frameshift 1.651e-05 2 121168 0 None None GP (contact)
p2y12_human 106 3.34x34 TM3 F => SerfsTer12 frameshift 8.269e-06 1 120932 0 None None LB (hydrophobic, Van der Waals)
p2y12_human 98 3.26x26 TM3 Q => ArgfsTer33 frameshift 8.269e-06 1 120934 0 None None
p2y12_human 90 3.18x18 TM3 G => SerfsTer5 frameshift 8.269e-06 1 120930 0 None None
p2y12_human 13 N-term N => ThrfsTer35 frameshift 8.258e-06 1 121102 0 None None
p2y12_human 342 C-term M => V missense 8.281e-06 1 120760 0 nan 0.0
p2y12_human 336 C-term P => L missense 8.272e-06 1 120890 0 0.2 0.054
p2y12_human 335 C-term D => G missense 8.27e-06 1 120918 0 0.17 0.108
p2y12_human 333 C-term G => S missense 8.268e-06 1 120944 0 0.86 0.001
p2y12_human 331 C-term Q => H missense 3.307e-05 4 120968 0 0.14 0.332
p2y12_human 330 C-term E => G missense 0.007157 866 120994 31 0.44 0.0
p2y12_human 328 C-term K => E missense 0.0002149 26 121006 0 0.64 0.021
p2y12_human 326 C-term N => S missense 1.652e-05 2 121038 0 0.76 0.003
p2y12_human 325 C-term D => V missense 8.26e-06 1 121066 0 0.23 0.008
p2y12_human 323 C-term S => F missense 3.303e-05 4 121116 0 0.04 0.176
p2y12_human 320 C-term T => I missense 1.65e-05 2 121208 0 0.12 0.001
p2y12_human 318 C-term S => P missense 8.248e-06 1 121238 0 0.25 0.0 PTM (Phosphorylation)
p2y12_human 317 C-term N => S missense 1.65e-05 2 121236 0 0.77 0.0
p2y12_human 316 C-term P => S missense 2.474e-05 3 121252 0 0.59 0.0
p2y12_human 315 C-term C => R missense 8.246e-06 1 121266 0 0.45 0.0
p2y12_human 307 8.52x52 H8 N => S missense 1.649e-05 2 121318 0 0.15 0.002
p2y12_human 298 7.53x53 TM7 Y => C missense 1.648e-05 2 121336 0 0.0 1.0 SodiumPocket MicroSwitch
p2y12_human 295 7.50x50 TM7 P => L missense 1.648e-05 2 121338 0 0.0 1.0 SodiumPocket MicroSwitch
p2y12_human 292 7.47x47 TM7 C => G missense 8.241e-06 1 121344 0 0.0 0.996
p2y12_human 291 7.46x46 TM7 A => T missense 8.241e-06 1 121338 0 0.2 0.398
p2y12_human 289 7.44x43 TM7 L => S missense 8.242e-06 1 121336 0 0.49 0.876 SodiumPocket MicroSwitch
p2y12_human 284 7.39x38 TM7 L => P missense 1.649e-05 2 121318 0 0.0 0.998
p2y12_human 283 7.38x37 TM7 T => I missense 1.649e-05 2 121316 0 0.0 0.907 LB (Van der Waals)
p2y12_human 282 7.37x36 TM7 S => T missense 3.297e-05 4 121308 0 0.82 0.038
p2y12_human 279 7.34x33 TM7 V => A missense 5.771e-05 7 121306 0 0.87 0.003
p2y12_human 277 7.32x31 TM7 F => Y missense 8.243e-06 1 121308 0 0.37 0.56
p2y12_human 270 7.25x24 TM7 C => R missense 8.247e-05 10 121252 0 0.0 0.998
p2y12_human 269 7.24x23 TM7 D => N missense 8.249e-06 1 121234 0 0.1 0.023
p2y12_human 265 6.64x64 TM6 R => Q missense 1.65e-05 2 121200 0 0.12 0.329
p2y12_human 265 6.64x64 TM6 R => P missense 8.251e-06 1 121200 0 0.07 0.953
p2y12_human 265 6.64x64 TM6 R => W missense 8.251e-06 1 121202 0 0.01 0.981
p2y12_human 264 6.63x63 TM6 T => I missense 8.25e-06 1 121208 0 0.02 0.987 PTM (Phosphorylation)
p2y12_human 261 6.60x60 TM6 L => P missense 8.252e-06 1 121190 0 0.04 0.914
p2y12_human 256 6.55x55 TM6 R => Q missense 2.477e-05 3 121132 0 0.0 0.973 LB (polar (charge-assisted hydrogen bond))
p2y12_human 255 6.54x54 TM6 A => D missense 8.256e-06 1 121120 0 0.0 0.732 LB (hydrophobic, Van der Waals)
p2y12_human 236 6.35x36 TM6 V => A missense 8.263e-06 1 121024 0 0.68 0.003 GP (contact)
p2y12_human 225 ICL3 G => C missense 2.478e-05 3 121042 0 0.15 0.055
p2y12_human 223 5.72x72 TM5 T => M missense 5.783e-05 7 121042 0 0.0 0.956 GP (contact)
p2y12_human 218 5.67x67 TM5 R => W missense 8.26e-06 1 121066 0 0.0 0.713 GP (contact)
p2y12_human 214 5.63x63 TM5 K => N missense 8.259e-06 1 121080 0 0.01 0.124
p2y12_human 214 5.63x63 TM5 K => E missense 2.478e-05 3 121074 0 0.0 0.622
p2y12_human 207 5.56x56 TM5 V => A missense 1.652e-05 2 121072 0 0.02 0.875
p2y12_human 207 5.56x56 TM5 V => L missense 8.259e-06 1 121074 0 0.87 0.152
p2y12_human 206 5.55x55 TM5 I => T missense 8.259e-06 1 121084 0 0.1 0.01
p2y12_human 202 5.51x51 TM5 F => L missense 8.258e-06 1 121098 0 1.0 0.007
p2y12_human 200 5.49x49 TM5 I => V missense 1.651e-05 2 121122 0 0.96 0.022
p2y12_human 194 5.43x43 TM5 C => S missense 8.251e-06 1 121194 0 0.15 0.98 LB (Van der Waals, polar (hydrogen bond))
p2y12_human 186 5.35x35 TM5 W => S missense 3.298e-05 4 121290 0 0.01 0.376
p2y12_human 183 5.32x32 TM5 G => R missense 8.244e-06 1 121296 0 0.0 1.0
p2y12_human 183 5.32x32 TM5 G => S missense 8.244e-06 1 121296 0 0.0 0.983
p2y12_human 182 5.31x31 TM5 F => L missense 8.245e-06 1 121290 0 1.0 0.115
p2y12_human 179 ECL2 K => Q missense 1.649e-05 2 121312 0 0.0 0.993
p2y12_human 167 ECL2 P => L missense 3.298e-05 4 121304 0 0.12 0.638
p2y12_human 166 ECL2 Q => E missense 8.243e-06 1 121312 0 1.0 0.0
p2y12_human 163 4.64x64 TM4 T => I missense 5.77e-05 7 121308 0 0.04 0.986
p2y12_human 161 4.62x62 TM4 I => V missense 2.473e-05 3 121308 0 0.08 0.284
p2y12_human 160 4.61x61 TM4 M => K missense 8.244e-06 1 121300 0 0.0 0.972
p2y12_human 159 4.60x60 TM4 N => K missense 8.244e-06 1 121296 0 0.0 0.995 LB (Van der Waals, polar (hydrogen bond))
p2y12_human 158 4.59x59 TM4 P => T missense 8.245e-06 1 121290 0 0.0 1.0
p2y12_human 154 4.55x55 TM4 L => S missense 8.244e-06 1 121302 0 0.4 0.043
p2y12_human 146 4.47x47 TM4 V => A missense 8.245e-06 1 121288 0 0.8 0.004
p2y12_human 146 4.47x47 TM4 V => F missense 8.246e-06 1 121274 0 0.62 0.526
p2y12_human 142 4.43x43 TM4 K => T missense 8.246e-06 1 121270 0 0.0 0.999
p2y12_human 127 3.55x55 TM3 T => I missense 0.001122 136 121170 2 0.47 0.119 GP (contact)
p2y12_human 123 3.51x51 TM3 Y => H missense 8.257e-06 1 121110 0 0.0 0.995
p2y12_human 122 3.50x50 TM3 R => H missense 0.0001321 16 121094 0 0.0 1.0 SodiumPocket MicroSwitch GP (contact)
p2y12_human 122 3.50x50 TM3 R => C missense 6.606e-05 8 121102 0 0.0 1.0 SodiumPocket MicroSwitch GP (contact)
p2y12_human 121 3.49x49 TM3 D => N missense 1.652e-05 2 121080 0 0.03 0.999 SodiumPocket MicroSwitch
p2y12_human 120 3.48x48 TM3 I => V missense 1.652e-05 2 121072 0 0.12 0.032
p2y12_human 118 3.46x46 TM3 I => V missense 8.261e-06 1 121054 0 0.0 0.998
p2y12_human 117 3.45x45 TM3 L => P missense 8.262e-06 1 121040 0 0.0 0.998
p2y12_human 100 3.28x28 TM3 T => A missense 8.269e-06 1 120928 0 0.0 0.111
p2y12_human 95 3.23x23 TM3 F => S missense 1.654e-05 2 120934 0 0.0 0.887
p2y12_human 88 ECL1 G => R missense 8.27e-06 1 120914 0 0.03 0.794
p2y12_human 86 2.66x66 TM2 K => R missense 8.27e-06 1 120916 0 0.56 0.004
p2y12_human 66 2.46x46 TM2 T => A missense 8.285e-06 1 120706 0 0.1 0.472
p2y12_human 56 ICL1 K => I missense 8.287e-06 1 120670 0 0.02 0.912
p2y12_human 56 ICL1 K => R missense 8.287e-06 1 120670 0 0.36 0.054
p2y12_human 55 ICL1 S => G missense 8.285e-06 1 120694 0 0.0 0.868
p2y12_human 54 ICL1 R => Q missense 2.486e-05 3 120674 0 0.02 0.106
p2y12_human 54 ICL1 R => W missense 0.0001906 23 120698 0 0.0 0.606
p2y12_human 52 1.59x59 TM1 Q => R missense 8.283e-06 1 120724 0 0.66 0.038
p2y12_human 39 1.46x46 TM1 G => A missense 2.482e-05 3 120880 0 0.19 0.863
p2y12_human 37 1.44x44 TM1 F => S missense 8.27e-06 1 120924 0 0.0 0.058
p2y12_human 31 1.38x38 TM1 L => F missense 8.271e-06 1 120910 0 0.0 0.117
p2y12_human 31 1.38x38 TM1 L => I missense 8.271e-06 1 120910 0 0.04 0.624
p2y12_human 29 1.36x36 TM1 P => S missense 8.269e-06 1 120928 0 0.04 0.666
p2y12_human 23 1.30x30 TM1 I => N missense 8.265e-06 1 120988 0 0.0 0.352
p2y12_human 13 N-term N => S missense 8.258e-06 1 121098 0 0.32 0.026
p2y12_human 10 N-term A => V missense 3.302e-05 4 121156 0 0.51 0.001
p2y12_human 10 N-term A => G missense 8.254e-06 1 121156 0 0.55 0.001
p2y12_human 4 N-term V => I missense 5.8e-05 7 120690 0 1.0 0.0


Residue

Diagrams

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