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 |
mtr1a_human | 291 | 7.49x49 | TM7 | N => MetfsTer8 | frameshift | 8.237e-06 | 1 | 121410 | 0 | None | None | SodiumPocket MicroSwitch |
mtr1a_human | 229 | 6.26x26 | TM6 | L => GlnfsTer35 | frameshift | 8.251e-06 | 1 | 121204 | 0 | None | None | GP (contact) |
mtr1a_human | 170 | ECL2 | Y => Ter | stop gained | 2.471e-05 | 3 | 121394 | 0 | None | None | ||
mtr1a_human | 120 | 3.45x45 | TM3 | G => ArgfsTer105 | frameshift | 8.239e-06 | 1 | 121376 | 0 | None | None | |
mtr1a_human | 105 | 3.30x30 | TM3 | F => SerfsTer2 | frameshift | 8.237e-06 | 1 | 121404 | 0 | None | None | |
mtr1a_human | 93 | 23.50x50 | ECL1 | W => Ter | stop gained | 3.295e-05 | 4 | 121398 | 0 | None | None | |
mtr1a_human | 57 | 12.49x49 | ICL1 | K => Ter | stop gained | 2.454e-05 | 1 | 40756 | 0 | None | None | |
mtr1a_human | 350 | C-term | V => I | missense | 1.647e-05 | 2 | 121404 | 0 | nan | 0.052 | ||
mtr1a_human | 348 | C-term | D => N | missense | 0.001516 | 184 | 121408 | 1 | nan | 0.021 | ||
mtr1a_human | 348 | C-term | D => Y | missense | 8.237e-06 | 1 | 121408 | 0 | nan | 0.651 | ||
mtr1a_human | 346 | C-term | K => R | missense | 1.647e-05 | 2 | 121410 | 0 | nan | 0.005 | ||
mtr1a_human | 345 | C-term | V => I | missense | 0.0002553 | 31 | 121410 | 0 | nan | 0.003 | ||
mtr1a_human | 340 | C-term | T => I | missense | 1.647e-05 | 2 | 121410 | 0 | 0.08 | 0.005 | ||
mtr1a_human | 337 | C-term | P => L | missense | 1.647e-05 | 2 | 121408 | 0 | 0.0 | 0.847 | ||
mtr1a_human | 335 | C-term | P => L | missense | 1.647e-05 | 2 | 121406 | 0 | 0.03 | 0.046 | ||
mtr1a_human | 335 | C-term | P => Q | missense | 8.237e-06 | 1 | 121406 | 0 | 0.04 | 0.099 | ||
mtr1a_human | 334 | C-term | K => N | missense | 0.002109 | 256 | 121408 | 1 | 0.02 | 0.072 | ||
mtr1a_human | 331 | C-term | V => F | missense | 0.0005271 | 64 | 121410 | 0 | 0.38 | 0.058 | ||
mtr1a_human | 329 | C-term | D => H | missense | 8.237e-06 | 1 | 121410 | 0 | 0.03 | 0.006 | ||
mtr1a_human | 329 | C-term | D => N | missense | 1.647e-05 | 2 | 121410 | 0 | 0.04 | 0.006 | ||
mtr1a_human | 327 | C-term | V => M | missense | 8.237e-06 | 1 | 121410 | 0 | 0.22 | 0.007 | ||
mtr1a_human | 326 | C-term | D => N | missense | 8.237e-05 | 10 | 121410 | 0 | 0.26 | 0.002 | ||
mtr1a_human | 323 | C-term | S => G | missense | 8.236e-06 | 1 | 121412 | 0 | 0.1 | 0.003 | ||
mtr1a_human | 321 | C-term | V => M | missense | 3.295e-05 | 4 | 121412 | 0 | 0.27 | 0.007 | ||
mtr1a_human | 318 | C-term | V => L | missense | 8.236e-06 | 1 | 121412 | 0 | 1.0 | 0.001 | ||
mtr1a_human | 317 | C-term | R => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.1 | 0.028 | ||
mtr1a_human | 316 | C-term | A => T | missense | 4.118e-05 | 5 | 121412 | 0 | 0.09 | 0.001 | ||
mtr1a_human | 315 | 8.63x63 | H8 | T => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.46 | 0.002 | |
mtr1a_human | 310 | 8.58x58 | H8 | I => T | missense | 2.471e-05 | 3 | 121412 | 0 | 0.0 | 0.288 | |
mtr1a_human | 309 | 8.57x57 | H8 | I => T | missense | 2.471e-05 | 3 | 121410 | 0 | 0.0 | 0.441 | |
mtr1a_human | 307 | 8.55x55 | H8 | R => K | missense | 1.647e-05 | 2 | 121410 | 0 | 1.0 | 0.002 | |
mtr1a_human | 298 | 7.56x56 | TM7 | L => R | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.49 | GP (contact) |
mtr1a_human | 294 | 7.52x52 | TM7 | I => M | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.961 | |
mtr1a_human | 294 | 7.52x52 | TM7 | I => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.903 | |
mtr1a_human | 293 | 7.51x51 | TM7 | I => V | missense | 3.295e-05 | 4 | 121410 | 0 | 0.78 | 0.032 | |
mtr1a_human | 291 | 7.49x49 | TM7 | N => S | missense | 3.295e-05 | 4 | 121408 | 0 | 0.01 | 0.998 | SodiumPocket MicroSwitch |
mtr1a_human | 285 | 7.43x42 | TM7 | Y => H | missense | 8.237e-06 | 1 | 121410 | 0 | 0.02 | 0.997 | LB (hydrophobic, Van der Waals) |
mtr1a_human | 284 | 7.42x41 | TM7 | A => V | missense | 0.0002471 | 30 | 121400 | 0 | 0.04 | 0.446 | LB (Van der Waals, hydrophobic) |
mtr1a_human | 283 | 7.41x40 | TM7 | M => V | missense | 8.237e-06 | 1 | 121398 | 0 | 0.05 | 0.063 | |
mtr1a_human | 281 | 7.39x38 | TM7 | Y => C | missense | 8.238e-06 | 1 | 121394 | 0 | 0.0 | 0.976 | LB (hydrophobic, Van der Waals) |
mtr1a_human | 277 | 7.35x34 | TM7 | F => L | missense | 8.242e-06 | 1 | 121326 | 0 | 0.0 | 0.688 | |
mtr1a_human | 271 | ECL3 | R => G | missense | 8.243e-06 | 1 | 121320 | 0 | 0.03 | 0.219 | ||
mtr1a_human | 266 | ECL3 | A => V | missense | 0.01994 | 2418 | 121254 | 28 | 0.2 | 0.002 | ||
mtr1a_human | 266 | ECL3 | A => T | missense | 0.002078 | 252 | 121242 | 6 | 0.4 | 0.005 | ||
mtr1a_human | 265 | ECL3 | P => A | missense | 8.248e-06 | 1 | 121236 | 0 | 0.0 | 0.224 | ||
mtr1a_human | 261 | 6.58x58 | TM6 | V => M | missense | 8.253e-06 | 1 | 121162 | 0 | 0.02 | 0.96 | |
mtr1a_human | 258 | 6.55x55 | TM6 | G => D | missense | 8.255e-06 | 1 | 121138 | 0 | 0.0 | 0.241 | LB (Van der Waals) |
mtr1a_human | 257 | 6.54x54 | TM6 | I => F | missense | 1.651e-05 | 2 | 121136 | 0 | 0.0 | 0.899 | |
mtr1a_human | 253 | 6.50x50 | TM6 | P => L | missense | 8.258e-06 | 1 | 121094 | 0 | 0.06 | 0.993 | SodiumPocket MicroSwitch |
mtr1a_human | 249 | 6.46x46 | TM6 | I => M | missense | 8.259e-06 | 1 | 121082 | 0 | 0.04 | 0.751 | |
mtr1a_human | 249 | 6.46x46 | TM6 | I => F | missense | 8.259e-05 | 10 | 121082 | 1 | 0.16 | 0.072 | |
mtr1a_human | 241 | 6.38x38 | TM6 | F => V | missense | 1.652e-05 | 2 | 121082 | 0 | 0.03 | 0.841 | |
mtr1a_human | 234 | 6.31x31 | TM6 | F => L | missense | 2.477e-05 | 3 | 121112 | 0 | 0.37 | 0.002 | |
mtr1a_human | 233 | 6.30x30 | TM6 | D => V | missense | 8.255e-06 | 1 | 121142 | 0 | 0.04 | 0.733 | SodiumPocket MicroSwitch |
mtr1a_human | 232 | 6.29x29 | TM6 | Q => P | missense | 8.253e-06 | 1 | 121162 | 0 | 0.06 | 0.158 | GP (contact) |
mtr1a_human | 229 | 6.26x26 | TM6 | L => P | missense | 8.251e-06 | 1 | 121198 | 0 | 0.15 | 0.021 | GP (contact) |
mtr1a_human | 225 | ICL3 | R => H | missense | 8.249e-06 | 1 | 121230 | 0 | 0.14 | 0.033 | ||
mtr1a_human | 225 | ICL3 | R => L | missense | 8.249e-06 | 1 | 121230 | 0 | 0.27 | 0.009 | ||
mtr1a_human | 225 | ICL3 | R => C | missense | 8.247e-06 | 1 | 121252 | 0 | 0.21 | 0.022 | ||
mtr1a_human | 222 | ICL3 | K => N | missense | 8.247e-06 | 1 | 121256 | 0 | 0.03 | 0.309 | ||
mtr1a_human | 221 | 5.72x72 | TM5 | V => E | missense | 8.247e-06 | 1 | 121252 | 0 | 0.0 | 0.839 | GP (contact) |
mtr1a_human | 212 | 5.63x63 | TM5 | I => T | missense | 0.006042 | 733 | 121310 | 18 | 0.18 | 0.014 | |
mtr1a_human | 198 | 5.49x49 | TM5 | V => I | missense | 1.648e-05 | 2 | 121358 | 0 | 0.13 | 0.006 | |
mtr1a_human | 194 | 5.45x46 | TM5 | F => L | missense | 8.239e-06 | 1 | 121376 | 0 | 0.07 | 0.015 | |
mtr1a_human | 191 | 5.42x43 | TM5 | V => M | missense | 2.472e-05 | 3 | 121354 | 0 | 0.02 | 0.228 | LB (hydrophobic, Van der Waals) |
mtr1a_human | 190 | 5.41x42 | TM5 | A => T | missense | 8.241e-06 | 1 | 121342 | 0 | 0.56 | 0.014 | |
mtr1a_human | 189 | 5.40x41 | TM5 | I => M | missense | 8.239e-06 | 1 | 121376 | 0 | 0.06 | 0.44 | |
mtr1a_human | 186 | 5.37x38 | TM5 | A => S | missense | 8.241e-06 | 1 | 121342 | 0 | 0.49 | 0.016 | |
mtr1a_human | 185 | 5.36x37 | TM5 | S => P | missense | 8.239e-06 | 1 | 121376 | 0 | 0.28 | 0.078 | |
mtr1a_human | 183 | ECL2 | V => I | missense | 3.296e-05 | 4 | 121368 | 0 | 0.2 | 0.022 | ||
mtr1a_human | 180 | ECL2 | A => T | missense | 8.239e-06 | 1 | 121380 | 0 | 0.86 | 0.002 | ||
mtr1a_human | 172 | ECL2 | P => L | missense | 1.648e-05 | 2 | 121392 | 0 | 0.0 | 0.943 | ||
mtr1a_human | 170 | ECL2 | Y => F | missense | 8.238e-06 | 1 | 121392 | 0 | 0.01 | 0.277 | ||
mtr1a_human | 166 | 4.64x65 | TM4 | G => E | missense | 0.00945 | 1147 | 121378 | 12 | 0.14 | 0.031 | |
mtr1a_human | 164 | 4.62x63 | TM4 | R => H | missense | 4.12e-05 | 5 | 121372 | 0 | 0.06 | 0.001 | |
mtr1a_human | 164 | 4.62x63 | TM4 | R => C | missense | 1.648e-05 | 2 | 121380 | 0 | 0.04 | 0.0 | |
mtr1a_human | 163 | 4.61x62 | TM4 | L => F | missense | 9.062e-05 | 11 | 121380 | 0 | 1.0 | 0.019 | LB (hydrophobic) |
mtr1a_human | 162 | 4.60x61 | TM4 | N => K | missense | 8.239e-06 | 1 | 121374 | 0 | 0.0 | 0.937 | LB (polar (hydrogen bond), Van der Waals) |
mtr1a_human | 162 | 4.60x61 | TM4 | N => H | missense | 8.242e-06 | 1 | 121324 | 0 | 0.0 | 0.984 | LB (polar (hydrogen bond), Van der Waals) |
mtr1a_human | 161 | 4.59x60 | TM4 | P => A | missense | 8.24e-06 | 1 | 121352 | 0 | 0.01 | 0.957 | |
mtr1a_human | 159 | 4.57x57 | TM4 | V => I | missense | 1.65e-05 | 2 | 121236 | 0 | 1.0 | 0.002 | LB (hydrophobic) |
mtr1a_human | 157 | 4.55x55 | TM4 | A => V | missense | 0.001838 | 223 | 121356 | 1 | 1.0 | 0.001 | |
mtr1a_human | 155 | 4.53x53 | TM4 | T => M | missense | 1.648e-05 | 2 | 121376 | 0 | 0.0 | 0.815 | |
mtr1a_human | 148 | 4.46x46 | TM4 | V => M | missense | 8.239e-06 | 1 | 121380 | 0 | 0.03 | 0.531 | |
mtr1a_human | 138 | 34.56x56 | ICL2 | L => P | missense | 8.238e-06 | 1 | 121382 | 0 | 0.0 | 0.948 | GP (contact) |
mtr1a_human | 138 | 34.56x56 | ICL2 | L => V | missense | 8.238e-06 | 1 | 121386 | 0 | 0.21 | 0.113 | GP (contact) |
mtr1a_human | 137 | 34.55x55 | ICL2 | K => N | missense | 8.238e-06 | 1 | 121384 | 0 | 0.0 | 0.616 | GP (contact) |
mtr1a_human | 136 | 34.54x54 | ICL2 | D => N | missense | 1.648e-05 | 2 | 121380 | 1 | 0.09 | 0.056 | GP (contact) |
mtr1a_human | 136 | 34.54x54 | ICL2 | D => H | missense | 8.239e-06 | 1 | 121380 | 0 | 0.48 | 0.041 | GP (contact) |
mtr1a_human | 133 | 34.51x51 | ICL2 | L => R | missense | 8.239e-06 | 1 | 121372 | 0 | 0.01 | 0.217 | GP (contact) |
mtr1a_human | 131 | 3.56x56 | TM3 | H => R | missense | 1.648e-05 | 2 | 121370 | 0 | 0.03 | 0.163 | GP (contact) |
mtr1a_human | 129 | 3.54x54 | TM3 | I => V | missense | 8.239e-06 | 1 | 121368 | 0 | 0.1 | 0.58 | GP (contact) |
mtr1a_human | 128 | 3.53x53 | TM3 | Y => C | missense | 8.239e-06 | 1 | 121368 | 0 | 0.1 | 0.013 | GP (contact) |
mtr1a_human | 125 | 3.50x50 | TM3 | R => L | missense | 8.24e-06 | 1 | 121352 | 0 | 0.0 | 0.997 | SodiumPocket MicroSwitch GP (contact) |
mtr1a_human | 124 | 3.49x49 | TM3 | N => K | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 0.993 | SodiumPocket MicroSwitch |
mtr1a_human | 122 | 3.47x47 | TM3 | A => T | missense | 3.295e-05 | 4 | 121380 | 0 | 0.01 | 0.969 | |
mtr1a_human | 120 | 3.45x45 | TM3 | G => S | missense | 4.119e-05 | 5 | 121376 | 0 | 0.07 | 0.42 | |
mtr1a_human | 116 | 3.41x41 | TM3 | F => S | missense | 8.238e-06 | 1 | 121396 | 0 | 0.02 | 0.993 | |
mtr1a_human | 113 | 3.38x38 | TM3 | G => S | missense | 6.59e-05 | 8 | 121402 | 0 | 0.08 | 0.109 | |
mtr1a_human | 111 | 3.36x36 | TM3 | V => I | missense | 8.237e-06 | 1 | 121406 | 0 | 0.04 | 0.603 | LB (hydrophobic) |
mtr1a_human | 110 | 3.35x35 | TM3 | S => R | missense | 8.237e-06 | 1 | 121406 | 0 | 0.02 | 0.996 | |
mtr1a_human | 107 | 3.32x32 | TM3 | M => I | missense | 8.237e-06 | 1 | 121404 | 0 | 0.04 | 0.058 | LB (hydrophobic) |
mtr1a_human | 100 | 3.25x25 | TM3 | C => S | missense | 8.237e-06 | 1 | 121406 | 0 | 0.02 | 0.996 | |
mtr1a_human | 98 | 3.23x23 | TM3 | L => R | missense | 8.237e-06 | 1 | 121404 | 0 | 0.03 | 0.158 | |
mtr1a_human | 96 | 3.21x21 | TM3 | G => D | missense | 0.0007249 | 88 | 121402 | 0 | 0.0 | 0.86 | |
mtr1a_human | 92 | 23.49x49 | ECL1 | G => R | missense | 2.471e-05 | 3 | 121388 | 0 | 0.01 | 0.031 | |
mtr1a_human | 91 | 2.68x67 | TM2 | N => Y | missense | 8.238e-05 | 10 | 121390 | 0 | 0.01 | 0.043 | |
mtr1a_human | 88 | 2.65x64 | TM2 | I => V | missense | 5.767e-05 | 7 | 121370 | 0 | 0.12 | 0.02 | |
mtr1a_human | 87 | 2.64x63 | TM2 | S => L | missense | 1.648e-05 | 2 | 121358 | 0 | 0.0 | 0.108 | |
mtr1a_human | 82 | 2.59x58 | TM2 | P => L | missense | 1.65e-05 | 2 | 121230 | 0 | 0.04 | 0.997 | |
mtr1a_human | 80 | 2.57x56 | TM2 | P => L | missense | 4.127e-05 | 5 | 121154 | 0 | 0.0 | 0.031 | |
mtr1a_human | 80 | 2.57x56 | TM2 | P => A | missense | 8.255e-06 | 1 | 121146 | 0 | 0.02 | 0.292 | |
mtr1a_human | 75 | 2.52x52 | TM2 | V => L | missense | 2.484e-05 | 3 | 120792 | 0 | 0.68 | 0.006 | |
mtr1a_human | 70 | 2.47x47 | TM2 | A => V | missense | 3.323e-05 | 4 | 120382 | 0 | 0.01 | 0.973 | |
mtr1a_human | 68 | 2.45x45 | TM2 | S => R | missense | 1.665e-05 | 2 | 120150 | 0 | 0.0 | 0.931 | |
mtr1a_human | 65 | 2.42x42 | TM2 | F => S | missense | 8.359e-06 | 1 | 119630 | 0 | 0.01 | 0.946 | |
mtr1a_human | 64 | 2.41x41 | TM2 | I => M | missense | 8.379e-06 | 1 | 119350 | 0 | 0.16 | 0.043 | |
mtr1a_human | 64 | 2.41x41 | TM2 | I => V | missense | 8.379e-06 | 1 | 119350 | 0 | 0.3 | 0.008 | |
mtr1a_human | 63 | 2.40x40 | TM2 | N => S | missense | 8.385e-06 | 1 | 119264 | 0 | 0.0 | 0.999 | |
mtr1a_human | 57 | 12.49x49 | ICL1 | K => Q | missense | 9.815e-05 | 4 | 40756 | 0 | 0.02 | 0.564 | |
mtr1a_human | 56 | 12.48x48 | ICL1 | K => N | missense | 2.452e-05 | 1 | 40784 | 0 | 0.01 | 0.178 | |
mtr1a_human | 56 | 12.48x48 | ICL1 | K => R | missense | 2.447e-05 | 1 | 40870 | 0 | 0.91 | 0.013 | |
mtr1a_human | 54 | 1.59x59 | TM1 | R => W | missense | 0.001146 | 47 | 41024 | 0 | 0.0 | 0.378 | |
mtr1a_human | 52 | 1.57x57 | TM1 | V => A | missense | 0.001346 | 55 | 40864 | 0 | 0.0 | 0.938 | |
mtr1a_human | 51 | 1.56x56 | TM1 | S => L | missense | 4.967e-05 | 2 | 40268 | 0 | 0.0 | 0.228 | |
mtr1a_human | 50 | 1.55x55 | TM1 | L => P | missense | 2.531e-05 | 1 | 39504 | 0 | 0.0 | 0.928 | |
mtr1a_human | 49 | 1.54x54 | TM1 | I => T | missense | 2.516e-05 | 1 | 39748 | 0 | 0.03 | 0.385 | |
mtr1a_human | 48 | 1.53x53 | TM1 | V => I | missense | 2.57e-05 | 1 | 38912 | 0 | 0.02 | 0.458 | |
mtr1a_human | 32 | 1.37x37 | TM1 | C => S | missense | 4.815e-05 | 1 | 20768 | 0 | 0.73 | 0.0 | |
mtr1a_human | 31 | 1.36x36 | TM1 | A => V | missense | 4.965e-05 | 1 | 20140 | 0 | 0.05 | 0.206 | |
mtr1a_human | 18 | N-term | G => R | missense | 6.888e-05 | 1 | 14518 | 0 | nan | 0.004 | ||
mtr1a_human | 10 | N-term | N => D | missense | 0.0003375 | 4 | 11852 | 0 | 0.38 | 0.002 | ||
mtr1a_human | 9 | N-term | P => L | missense | 8.498e-05 | 1 | 11768 | 0 | 0.42 | 0.001 | ||
mtr1a_human | 5 | N-term | G => R | missense | 0.0002958 | 3 | 10142 | 0 | 0.04 | 0.245 |
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