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 |
aa2ar_human | 28 | 1.54x54 | TM1 | C => ValfsTer74 | frameshift | 1.655e-05 | 2 | 120810 | 0 | None | None | |
aa2ar_human | 138 | 4.59x59 | TM4 | T => SerfsTer31 | frameshift | 8.433e-06 | 1 | 118582 | 0 | None | None | |
aa2ar_human | 179 | 5.40x411 | TM5 | Y => GlufsTer156 | frameshift | 8.238e-06 | 1 | 121388 | 0 | None | None | |
aa2ar_human | 197 | 5.58x58 | TM5 | Y => LeufsTer134 | frameshift | 8.237e-06 | 1 | 121398 | 0 | None | None | SodiumPocket MicroSwitch |
aa2ar_human | 206 | 5.67x67 | TM5 | R => Ter | stop gained | 1.648e-05 | 2 | 121378 | 0 | None | None | GP (contact) |
aa2ar_human | 382 | C-term | D => ArgfsTer6 | frameshift | 1.971e-05 | 2 | 101496 | 0 | None | None | ||
aa2ar_human | 412 | C-term | S => LeufsTer36 | frameshift | 1.984e-05 | 2 | 100828 | 0 | None | None | ||
aa2ar_human | 4 | 1.30x30 | TM1 | M => T | missense | 0.0001264 | 10 | 79096 | 0 | nan | 0.0 | |
aa2ar_human | 6 | 1.32x32 | TM1 | S => F | missense | 1.138e-05 | 1 | 87846 | 0 | 0.06 | 0.005 | |
aa2ar_human | 7 | 1.33x33 | TM1 | S => L | missense | 1.084e-05 | 1 | 92226 | 0 | 0.26 | 0.0 | |
aa2ar_human | 8 | 1.34x34 | TM1 | V => A | missense | 1.998e-05 | 2 | 100104 | 0 | nan | 0.002 | |
aa2ar_human | 15 | 1.41x41 | TM1 | A => T | missense | 8.653e-05 | 10 | 115572 | 0 | nan | 0.004 | |
aa2ar_human | 21 | 1.47x47 | TM1 | I => V | missense | 3.34e-05 | 4 | 119762 | 0 | nan | 0.0 | |
aa2ar_human | 23 | 1.49x49 | TM1 | G => D | missense | 8.312e-06 | 1 | 120308 | 0 | 0.0 | 1.0 | |
aa2ar_human | 24 | 1.50x50 | TM1 | N => S | missense | 8.296e-06 | 1 | 120538 | 0 | 0.0 | 0.99 | |
aa2ar_human | 28 | 1.54x54 | TM1 | C => S | missense | 8.271e-06 | 1 | 120902 | 0 | 0.0 | 0.567 | |
aa2ar_human | 33 | 1.59x59 | TM1 | L => R | missense | 8.255e-06 | 1 | 121132 | 0 | 0.03 | 0.002 | |
aa2ar_human | 40 | 2.38x38 | TM2 | V => I | missense | 0.0001897 | 23 | 121232 | 0 | 0.21 | 0.038 | |
aa2ar_human | 49 | 2.47x47 | TM2 | A => V | missense | 4.129e-05 | 5 | 121102 | 0 | 0.0 | 0.999 | |
aa2ar_human | 50 | 2.48x48 | TM2 | A => V | missense | 0.00253 | 306 | 120926 | 7 | 1.0 | 0.0 | |
aa2ar_human | 52 | 2.50x50 | TM2 | D => N | missense | 8.255e-06 | 1 | 121142 | 0 | 0.0 | 1.0 | |
aa2ar_human | 54 | 2.52x52 | TM2 | A => T | missense | 8.254e-06 | 1 | 121152 | 0 | 0.01 | 0.893 | |
aa2ar_human | 59 | 2.57x56 | TM2 | A => T | missense | 8.252e-06 | 1 | 121190 | 0 | 0.0 | 0.33 | |
aa2ar_human | 60 | 2.58x57 | TM2 | I => V | missense | 8.25e-06 | 1 | 121210 | 0 | 0.06 | 0.039 | |
aa2ar_human | 66 | 2.64x63 | TM2 | I => V | missense | 8.247e-06 | 1 | 121258 | 0 | 0.05 | 0.063 | LB (hydrophobic, Van der Waals, polar (hydrogen bond), polar (hydrogen bond with backbone)) |
aa2ar_human | 67 | 2.65x64 | TM2 | S => R | missense | 8.246e-06 | 1 | 121268 | 0 | 0.0 | 0.672 | LB (Van der Waals, polar (hydrogen bond), polar (hydrogen bond with backbone)) |
aa2ar_human | 68 | 2.66x65 | TM2 | T => I | missense | 8.246e-06 | 1 | 121270 | 0 | 0.33 | 0.001 | LB (Van der Waals) |
aa2ar_human | 69 | 2.67x66 | TM2 | G => R | missense | 1.649e-05 | 2 | 121274 | 0 | 0.0 | 0.996 | |
aa2ar_human | 72 | 23.52x52 | ECL1 | A => T | missense | 2.474e-05 | 3 | 121270 | 0 | 0.68 | 0.028 | |
aa2ar_human | 72 | 23.52x52 | ECL1 | A => V | missense | 8.245e-06 | 1 | 121284 | 0 | 0.25 | 0.047 | |
aa2ar_human | 88 | 3.36x36 | TM3 | T => R | missense | 1.649e-05 | 2 | 121322 | 0 | 0.0 | 0.999 | LB (polar (hydrogen bond), Van der Waals) |
aa2ar_human | 89 | 3.37x37 | TM3 | Q => H | missense | 8.242e-06 | 1 | 121326 | 0 | 0.0 | 0.932 | LB (Van der Waals) |
aa2ar_human | 102 | 3.50x50 | TM3 | R => H | missense | 8.263e-06 | 1 | 121024 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch GP (contact) |
aa2ar_human | 105 | 3.53x53 | TM3 | A => T | missense | 8.287e-06 | 1 | 120670 | 0 | 0.04 | 0.447 | GP (contact) |
aa2ar_human | 107 | 3.55x55 | TM3 | R => C | missense | 1.665e-05 | 2 | 120156 | 0 | 0.01 | 0.007 | GP (contact) |
aa2ar_human | 111 | 34.52x52 | ICL2 | R => W | missense | 8.457e-06 | 1 | 118246 | 0 | 0.0 | 0.636 | GP (contact) |
aa2ar_human | 116 | 34.57x57 | ICL2 | V => M | missense | 9.016e-06 | 1 | 110914 | 0 | 0.05 | 0.697 | GP (contact) |
aa2ar_human | 121 | 4.42x42 | TM4 | A => S | missense | 8.964e-06 | 1 | 111552 | 0 | 0.0 | 0.966 | |
aa2ar_human | 123 | 4.44x44 | TM4 | G => D | missense | 8.929e-06 | 1 | 111996 | 0 | 0.2 | 0.579 | |
aa2ar_human | 125 | 4.46x46 | TM4 | I => T | missense | 8.884e-06 | 1 | 112566 | 0 | 0.0 | 0.98 | |
aa2ar_human | 130 | 4.51x51 | TM4 | V => M | missense | 3.51e-05 | 4 | 113958 | 0 | 0.03 | 0.59 | |
aa2ar_human | 136 | 4.57x57 | TM4 | G => S | missense | 1.702e-05 | 2 | 117524 | 0 | 0.0 | 0.977 | |
aa2ar_human | 140 | 4.61x61 | TM4 | M => I | missense | 8.354e-06 | 1 | 119696 | 0 | 0.01 | 0.091 | |
aa2ar_human | 141 | 4.62x62 | TM4 | L => Q | missense | 4.171e-05 | 5 | 119886 | 0 | 0.0 | 0.947 | |
aa2ar_human | 147 | ECL2 | G => S | missense | 0.004117 | 497 | 120706 | 9 | 1.0 | 0.001 | ||
aa2ar_human | 147 | ECL2 | G => C | missense | 2.485e-05 | 3 | 120706 | 0 | 0.04 | 0.487 | ||
aa2ar_human | 148 | ECL2 | Q => R | missense | 4.138e-05 | 5 | 120844 | 0 | 0.49 | 0.002 | ||
aa2ar_human | 156 | ECL2 | S => T | missense | 8.251e-06 | 1 | 121200 | 0 | 0.33 | 0.001 | ||
aa2ar_human | 158 | ECL2 | G => S | missense | 8.247e-06 | 1 | 121262 | 0 | 1.0 | 0.001 | ||
aa2ar_human | 160 | ECL2 | G => R | missense | 0.0001814 | 22 | 121292 | 0 | 0.5 | 0.001 | ||
aa2ar_human | 161 | ECL2 | E => K | missense | 8.243e-06 | 1 | 121320 | 0 | 0.57 | 0.001 | ||
aa2ar_human | 165 | ECL2 | A => S | missense | 2.472e-05 | 3 | 121360 | 0 | 0.61 | 0.032 | ||
aa2ar_human | 174 | 5.35x37 | TM5 | M => V | missense | 8.238e-06 | 1 | 121388 | 0 | 0.0 | 0.508 | LB (hydrophobic, polar (hydrogen bond), Van der Waals) |
aa2ar_human | 179 | 5.40x411 | TM5 | Y => H | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.728 | |
aa2ar_human | 184 | 5.45x46 | TM5 | A => T | missense | 8.237e-05 | 10 | 121402 | 0 | 0.11 | 0.294 | |
aa2ar_human | 186 | 5.47x47 | TM5 | V => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 0.912 | SodiumPocket MicroSwitch LB (polar (hydrogen bond)) |
aa2ar_human | 192 | 5.53x53 | TM5 | L => P | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.918 | |
aa2ar_human | 199 | 5.60x60 | TM5 | R => W | missense | 8.238e-06 | 1 | 121396 | 0 | 0.02 | 0.055 | |
aa2ar_human | 199 | 5.60x60 | TM5 | R => Q | missense | 2.471e-05 | 3 | 121394 | 0 | 0.04 | 0.049 | |
aa2ar_human | 203 | 5.64x64 | TM5 | A => V | missense | 1.648e-05 | 2 | 121382 | 0 | 1.0 | 0.109 | GP (contact) |
aa2ar_human | 205 | 5.66x66 | TM5 | R => Q | missense | 1.648e-05 | 2 | 121380 | 0 | 0.03 | 0.598 | GP (contact) |
aa2ar_human | 206 | 5.67x67 | TM5 | R => Q | missense | 4.119e-05 | 5 | 121380 | 0 | 0.08 | 0.052 | GP (contact) |
aa2ar_human | 212 | 5.73x73 | TM5 | E => K | missense | 8.238e-06 | 1 | 121382 | 0 | 0.15 | 0.006 | |
aa2ar_human | 215 | ICL3 | P => L | missense | 8.239e-06 | 1 | 121380 | 0 | 0.38 | 0.001 | ||
aa2ar_human | 217 | ICL3 | P => L | missense | 8.239e-06 | 1 | 121370 | 0 | 0.16 | 0.025 | ||
aa2ar_human | 217 | ICL3 | P => R | missense | 8.239e-06 | 1 | 121370 | 0 | 0.33 | 0.014 | ||
aa2ar_human | 220 | 6.22x22 | TM6 | R => Q | missense | 8.239e-06 | 1 | 121378 | 0 | 0.09 | 0.011 | |
aa2ar_human | 222 | 6.24x24 | TM6 | R => G | missense | 8.239e-06 | 1 | 121374 | 0 | 0.03 | 0.076 | |
aa2ar_human | 222 | 6.24x24 | TM6 | R => W | missense | 8.239e-06 | 1 | 121374 | 0 | 0.0 | 0.971 | |
aa2ar_human | 222 | 6.24x24 | TM6 | R => Q | missense | 8.239e-06 | 1 | 121380 | 0 | 0.14 | 0.153 | |
aa2ar_human | 228 | 6.30x30 | TM6 | E => D | missense | 1.648e-05 | 2 | 121384 | 0 | 0.02 | 0.519 | SodiumPocket MicroSwitch |
aa2ar_human | 229 | 6.31x31 | TM6 | V => I | missense | 8.238e-06 | 1 | 121384 | 0 | 0.41 | 0.016 | |
aa2ar_human | 242 | 6.44x44 | TM6 | F => S | missense | 8.238e-06 | 1 | 121386 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
aa2ar_human | 249 | 6.51x51 | TM6 | L => P | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 0.997 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
aa2ar_human | 261 | ECL3 | D => N | missense | 1.648e-05 | 2 | 121384 | 0 | 0.5 | 0.0 | ||
aa2ar_human | 262 | ECL3 | C => G | missense | 8.238e-06 | 1 | 121390 | 0 | 0.02 | 0.238 | ||
aa2ar_human | 265 | ECL3 | A => T | missense | 8.238e-06 | 1 | 121384 | 0 | 0.44 | 0.03 | ||
aa2ar_human | 270 | 7.35x34 | TM7 | M => T | missense | 1.648e-05 | 2 | 121386 | 0 | 0.05 | 0.5 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
aa2ar_human | 273 | 7.38x37 | TM7 | A => G | missense | 8.239e-06 | 1 | 121378 | 0 | 0.16 | 0.008 | |
aa2ar_human | 275 | 7.40x39 | TM7 | V => I | missense | 0.0001895 | 23 | 121372 | 0 | 1.0 | 0.001 | |
aa2ar_human | 280 | 7.45x45 | TM7 | N => S | missense | 8.24e-06 | 1 | 121362 | 0 | 0.0 | 0.948 | |
aa2ar_human | 281 | 7.46x46 | TM7 | S => L | missense | 8.24e-06 | 1 | 121356 | 0 | 0.0 | 1.0 | |
aa2ar_human | 290 | 7.55x55 | TM7 | Y => F | missense | 2.473e-05 | 3 | 121312 | 0 | 0.42 | 0.011 | GP (contact) |
aa2ar_human | 291 | 7.56x56 | TM7 | R => C | missense | 1.649e-05 | 2 | 121314 | 0 | 0.0 | 0.977 | GP (contact) |
aa2ar_human | 291 | 7.56x56 | TM7 | R => H | missense | 8.243e-06 | 1 | 121316 | 0 | 0.03 | 0.118 | GP (contact) |
aa2ar_human | 293 | 8.48x48 | H8 | R => C | missense | 7.419e-05 | 9 | 121312 | 0 | 0.0 | 0.936 | GP (contact) |
aa2ar_human | 294 | 8.49x49 | H8 | E => D | missense | 8.244e-06 | 1 | 121304 | 0 | 0.43 | 0.001 | GP (contact) |
aa2ar_human | 295 | 8.50x50 | H8 | F => L | missense | 8.244e-06 | 1 | 121302 | 0 | 0.0 | 0.926 | |
aa2ar_human | 296 | 8.51x51 | H8 | R => H | missense | 2.473e-05 | 3 | 121300 | 0 | 0.02 | 0.719 | GP (contact) |
aa2ar_human | 300 | 8.55x55 | H8 | R => H | missense | 2.474e-05 | 3 | 121280 | 0 | 0.32 | 0.001 | |
aa2ar_human | 300 | 8.55x55 | H8 | R => L | missense | 8.245e-06 | 1 | 121280 | 0 | 0.33 | 0.011 | |
aa2ar_human | 304 | 8.59x59 | H8 | R => C | missense | 8.249e-06 | 1 | 121226 | 0 | 0.01 | 0.014 | |
aa2ar_human | 304 | 8.59x59 | H8 | R => H | missense | 7.425e-05 | 9 | 121210 | 0 | 0.11 | 0.001 | |
aa2ar_human | 306 | 8.61x61 | H8 | H => R | missense | 8.253e-06 | 1 | 121166 | 0 | 0.06 | 0.001 | |
aa2ar_human | 306 | 8.61x61 | H8 | H => Q | missense | 8.255e-06 | 1 | 121136 | 0 | 0.03 | 0.008 | |
aa2ar_human | 307 | 8.62x62 | H8 | V => I | missense | 1.651e-05 | 2 | 121134 | 0 | 1.0 | 0.0 | |
aa2ar_human | 308 | 8.63x63 | H8 | L => P | missense | 3.303e-05 | 4 | 121108 | 0 | 0.0 | 0.517 | |
aa2ar_human | 309 | 8.64x64 | H8 | R => K | missense | 8.258e-06 | 1 | 121090 | 0 | 1.0 | 0.002 | |
aa2ar_human | 320 | C-term | S => N | missense | 8.319e-06 | 1 | 120212 | 0 | 0.09 | 0.093 | ||
aa2ar_human | 329 | C-term | S => N | missense | 8.433e-06 | 1 | 118588 | 0 | 0.17 | 0.002 | ||
aa2ar_human | 330 | C-term | D => G | missense | 8.444e-06 | 1 | 118430 | 0 | 0.14 | 0.075 | ||
aa2ar_human | 331 | C-term | G => R | missense | 3.383e-05 | 4 | 118224 | 0 | 0.2 | 0.054 | ||
aa2ar_human | 334 | C-term | V => I | missense | 1.703e-05 | 2 | 117410 | 0 | 0.58 | 0.0 | ||
aa2ar_human | 337 | C-term | R => C | missense | 8.568e-06 | 1 | 116716 | 0 | nan | 0.912 | ||
aa2ar_human | 337 | C-term | R => H | missense | 1.714e-05 | 2 | 116704 | 0 | 0.05 | 0.875 | ||
aa2ar_human | 340 | C-term | G => S | missense | 8.634e-05 | 10 | 115820 | 0 | nan | 0.019 | ||
aa2ar_human | 341 | C-term | H => Y | missense | 8.641e-06 | 1 | 115724 | 0 | nan | 0.0 | ||
aa2ar_human | 342 | C-term | P => L | missense | 0.000156 | 18 | 115418 | 0 | nan | 0.058 | LB (hydrophobic) | |
aa2ar_human | 344 | C-term | G => R | missense | 8.67e-06 | 1 | 115336 | 0 | nan | 0.303 | ||
aa2ar_human | 345 | C-term | V => L | missense | 1.736e-05 | 2 | 115206 | 0 | nan | 0.001 | LB (hydrophobic) | |
aa2ar_human | 349 | C-term | G => S | missense | 1.752e-05 | 2 | 114148 | 0 | nan | 0.657 | ||
aa2ar_human | 354 | C-term | P => R | missense | 8.864e-06 | 1 | 112818 | 0 | nan | 0.1 | LB (polar (hydrogen bond)) | |
aa2ar_human | 355 | C-term | E => K | missense | 8.872e-06 | 1 | 112718 | 0 | nan | 0.004 | LB (aromatic (face-to-edge), polar (hydrogen bond)) | |
aa2ar_human | 356 | C-term | R => Q | missense | 8.008e-05 | 9 | 112384 | 0 | nan | 0.003 | ||
aa2ar_human | 358 | C-term | P => S | missense | 3.576e-05 | 4 | 111860 | 0 | nan | 0.298 | LB (polar (hydrogen bond)) | |
aa2ar_human | 359 | C-term | N => S | missense | 1.787e-05 | 2 | 111920 | 0 | nan | 0.053 | ||
aa2ar_human | 365 | C-term | L => P | missense | 9.428e-06 | 1 | 106062 | 0 | nan | 0.007 | ||
aa2ar_human | 367 | C-term | S => N | missense | 3.81e-05 | 4 | 104988 | 0 | nan | 0.111 | LB (hydrophobic, Van der Waals) | |
aa2ar_human | 368 | C-term | G => A | missense | 9.546e-06 | 1 | 104760 | 0 | nan | 0.002 | ||
aa2ar_human | 374 | C-term | S => F | missense | 9.714e-06 | 1 | 102944 | 0 | nan | 0.001 | PTM (Phosphorylation) LB (polar (hydrogen bond)) | |
aa2ar_human | 375 | C-term | Q => P | missense | 9.744e-06 | 1 | 102628 | 0 | nan | 0.0 | LB (polar (hydrogen bond)) | |
aa2ar_human | 378 | C-term | T => M | missense | 9.855e-06 | 1 | 101474 | 0 | nan | 0.001 | ||
aa2ar_human | 383 | C-term | V => M | missense | 2.962e-05 | 3 | 101298 | 0 | nan | 0.362 | ||
aa2ar_human | 384 | C-term | E => D | missense | 9.874e-06 | 1 | 101276 | 0 | nan | 0.129 | ||
aa2ar_human | 388 | C-term | H => Y | missense | 1.967e-05 | 2 | 101658 | 0 | nan | 0.026 | ||
aa2ar_human | 390 | C-term | L => P | missense | 9.809e-06 | 1 | 101942 | 0 | nan | 0.062 | ||
aa2ar_human | 393 | C-term | V => A | missense | 9.768e-06 | 1 | 102378 | 0 | nan | 0.0 | LB (hydrophobic, Van der Waals) | |
aa2ar_human | 399 | C-term | G => R | missense | 1.944e-05 | 2 | 102876 | 0 | nan | 0.303 | ||
aa2ar_human | 402 | C-term | D => E | missense | 0.002547 | 261 | 102478 | 5 | nan | 0.0 | ||
aa2ar_human | 403 | C-term | P => R | missense | 1.952e-05 | 2 | 102468 | 0 | nan | 0.05 | ||
aa2ar_human | 404 | C-term | L => P | missense | 1.958e-05 | 2 | 102146 | 0 | nan | 0.001 |
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