Variation Browser
DownloadReceptor | 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
- deleterious missense variants are shown in red
- tolerated missense variants are shown in green
- loss of function mutations ('stop gained' or 'frameshift' in the coding region) are shown in blue