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 |
pth2r_human | 11 | N-term | W => Ter | stop gained | 1.834e-05 | 2 | 109046 | 0 | None | None | ||
pth2r_human | 82 | N-term | S => Ter | stop gained | 0.01262 | 1525 | 120832 | 17 | None | None | ||
pth2r_human | 101 | N-term | R => Ter | stop gained | 7.431e-05 | 9 | 121112 | 0 | None | None | ||
pth2r_human | 103 | N-term | C => LeufsTer2 | frameshift | 8.255e-06 | 1 | 121144 | 0 | None | None | ||
pth2r_human | 130 | 1.25x25 | TM1 | Q => Ter | stop gained | 8.255e-06 | 1 | 121144 | 0 | None | None | LB (polar (hydrogen bond), Van der Waals) |
pth2r_human | 145 | 1.40x40 | TM1 | Y => LeufsTer2 | frameshift | 1.647e-05 | 2 | 121400 | 0 | None | None | |
pth2r_human | 171 | 12.49x49 | ICL1 | R => Ter | stop gained | 2.63e-05 | 3 | 114080 | 0 | None | None | |
pth2r_human | 209 | ECL1 | E => AspfsTer5 | frameshift | 1.651e-05 | 2 | 121106 | 0 | None | None | ||
pth2r_human | 216 | ECL1 | Q => Ter | stop gained | 8.281e-06 | 1 | 120764 | 0 | None | None | ||
pth2r_human | 232 | ECL1 | Q => Ter | stop gained | 8.55e-06 | 1 | 116956 | 0 | None | None | ||
pth2r_human | 233 | 3.26x26 | TM3 | Y => Ter | stop gained | 8.583e-06 | 1 | 116516 | 0 | None | None | |
pth2r_human | 284 | 4.50x50 | TM4 | W => Ter | stop gained | 0.0003564 | 43 | 120636 | 0 | None | None | |
pth2r_human | 294 | 4.60x60 | TM4 | W => Ter | stop gained | 8.237e-06 | 1 | 121402 | 0 | None | None | LB (Van der Waals) |
pth2r_human | 298 | 4.64x64 | TM4 | R => Ter | stop gained | 8.237e-06 | 1 | 121402 | 0 | None | None | |
pth2r_human | 316 | 5.37x38 | TM5 | W => Ter | stop gained | 2.472e-05 | 3 | 121342 | 0 | None | None | |
pth2r_human | 316 | 5.37x38 | TM5 | W => Ter | stop gained | 2.472e-05 | 3 | 121340 | 0 | None | None | |
pth2r_human | 337 | 5.58x58 | TM5 | V => LeufsTer4 | frameshift | 8.317e-06 | 1 | 120240 | 0 | None | None | |
pth2r_human | 345 | 5.66x66 | TM5 | W => Ter | stop gained | 8.271e-06 | 1 | 120902 | 0 | None | None | |
pth2r_human | 384 | ECL3 | H => ThrfsTer41 | frameshift | 4.122e-05 | 5 | 121306 | 0 | None | None | ||
pth2r_human | 453 | C-term | T => ProfsTer3 | frameshift | 8.838e-06 | 1 | 113154 | 0 | None | None | ||
pth2r_human | 477 | C-term | K => Ter | stop gained | 5.122e-05 | 6 | 117140 | 0 | None | None | ||
pth2r_human | 5 | N-term | G => R | missense | 9.202e-06 | 1 | 108668 | 0 | nan | 0.002 | ||
pth2r_human | 6 | N-term | A => T | missense | 9.196e-06 | 1 | 108746 | 0 | nan | 0.001 | ||
pth2r_human | 10 | N-term | V => I | missense | 0.0005965 | 65 | 108976 | 0 | nan | 0.001 | ||
pth2r_human | 11 | N-term | W => G | missense | 9.175e-06 | 1 | 108996 | 0 | nan | 0.051 | ||
pth2r_human | 15 | N-term | M => K | missense | 9.166e-06 | 1 | 109100 | 0 | 0.01 | 0.01 | ||
pth2r_human | 15 | N-term | M => T | missense | 9.166e-06 | 1 | 109100 | 0 | 0.05 | 0.006 | ||
pth2r_human | 17 | N-term | G => R | missense | 8.247e-05 | 9 | 109124 | 0 | 0.35 | 0.001 | ||
pth2r_human | 17 | N-term | G => C | missense | 9.164e-06 | 1 | 109124 | 0 | 0.2 | 0.346 | ||
pth2r_human | 18 | N-term | S => R | missense | 9.165e-06 | 1 | 109114 | 0 | 0.42 | 0.001 | PTM (Phosphorylation) | |
pth2r_human | 18 | N-term | S => R | missense | 3.665e-05 | 4 | 109126 | 0 | 0.42 | 0.001 | PTM (Phosphorylation) | |
pth2r_human | 29 | N-term | D => G | missense | 3.437e-05 | 4 | 116394 | 0 | 0.02 | 0.123 | ||
pth2r_human | 30 | N-term | G => S | missense | 8.576e-06 | 1 | 116606 | 0 | 0.09 | 0.248 | ||
pth2r_human | 31 | N-term | T => N | missense | 2.564e-05 | 3 | 116984 | 0 | 0.02 | 0.355 | ||
pth2r_human | 33 | N-term | T => P | missense | 8.532e-06 | 1 | 117210 | 0 | 0.0 | 0.936 | ||
pth2r_human | 34 | N-term | I => V | missense | 4.261e-05 | 5 | 117334 | 0 | 1.0 | 0.051 | ||
pth2r_human | 36 | N-term | E => G | missense | 8.515e-06 | 1 | 117438 | 0 | 0.0 | 0.947 | ||
pth2r_human | 38 | N-term | I => T | missense | 5.966e-05 | 7 | 117332 | 0 | 0.0 | 0.366 | ||
pth2r_human | 40 | N-term | L => I | missense | 8.541e-06 | 1 | 117082 | 0 | 0.08 | 0.205 | ||
pth2r_human | 44 | N-term | A => E | missense | 8.656e-06 | 1 | 115524 | 0 | 0.02 | 0.994 | ||
pth2r_human | 44 | N-term | A => V | missense | 2.597e-05 | 3 | 115524 | 0 | 0.09 | 0.271 | ||
pth2r_human | 45 | N-term | K => E | missense | 8.683e-06 | 1 | 115174 | 0 | 0.0 | 0.619 | ||
pth2r_human | 48 | N-term | C => R | missense | 8.845e-06 | 1 | 113056 | 0 | 0.0 | 1.0 | ||
pth2r_human | 49 | N-term | E => G | missense | 3.566e-05 | 4 | 112166 | 0 | 0.0 | 0.368 | ||
pth2r_human | 51 | N-term | N => I | missense | 9.065e-06 | 1 | 110320 | 0 | 0.05 | 0.885 | ||
pth2r_human | 51 | N-term | N => S | missense | 9.065e-06 | 1 | 110320 | 0 | 0.17 | 0.099 | ||
pth2r_human | 56 | N-term | L => I | missense | 0.0002474 | 26 | 105080 | 0 | 0.13 | 0.007 | ||
pth2r_human | 65 | N-term | P => S | missense | 8.301e-06 | 1 | 120470 | 0 | 0.01 | 1.0 | ||
pth2r_human | 68 | N-term | D => V | missense | 8.285e-06 | 1 | 120700 | 0 | 0.0 | 1.0 | ||
pth2r_human | 72 | N-term | C => F | missense | 4.138e-05 | 5 | 120818 | 0 | 0.0 | 1.0 | ||
pth2r_human | 73 | N-term | W => R | missense | 2.483e-05 | 3 | 120834 | 0 | 0.0 | 0.997 | ||
pth2r_human | 75 | N-term | R => G | missense | 2.482e-05 | 3 | 120890 | 0 | 0.09 | 0.886 | ||
pth2r_human | 78 | N-term | V => A | missense | 8.27e-06 | 1 | 120926 | 0 | 0.25 | 0.023 | ||
pth2r_human | 79 | N-term | G => E | missense | 3.308e-05 | 4 | 120920 | 0 | 0.0 | 0.999 | ||
pth2r_human | 82 | N-term | S => L | missense | 8.276e-06 | 1 | 120832 | 0 | 0.19 | 0.004 | ||
pth2r_human | 87 | N-term | P => R | missense | 6.628e-05 | 8 | 120698 | 0 | 0.0 | 1.0 | ||
pth2r_human | 90 | N-term | I => V | missense | 8.29e-06 | 1 | 120634 | 0 | 0.09 | 0.037 | ||
pth2r_human | 91 | N-term | Y => C | missense | 0.0003068 | 37 | 120604 | 0 | 0.0 | 0.994 | ||
pth2r_human | 95 | N-term | H => R | missense | 8.304e-06 | 1 | 120430 | 0 | 0.0 | 0.976 | ||
pth2r_human | 95 | N-term | H => P | missense | 5.813e-05 | 7 | 120430 | 0 | 0.0 | 0.997 | ||
pth2r_human | 96 | N-term | K => I | missense | 8.308e-06 | 1 | 120368 | 0 | 0.0 | 0.739 | ||
pth2r_human | 97 | N-term | G => R | missense | 8.312e-06 | 1 | 120308 | 0 | 0.0 | 1.0 | ||
pth2r_human | 98 | N-term | V => I | missense | 0.0002477 | 30 | 121090 | 0 | 0.38 | 0.213 | ||
pth2r_human | 99 | N-term | A => T | missense | 1.652e-05 | 2 | 121094 | 0 | 0.0 | 1.0 | ||
pth2r_human | 101 | N-term | R => Q | missense | 2.477e-05 | 3 | 121118 | 0 | 0.0 | 1.0 | ||
pth2r_human | 102 | N-term | H => Y | missense | 8.255e-06 | 1 | 121140 | 0 | 0.29 | 0.794 | ||
pth2r_human | 102 | N-term | H => Q | missense | 8.255e-06 | 1 | 121144 | 0 | 0.24 | 0.063 | ||
pth2r_human | 103 | N-term | C => R | missense | 8.255e-06 | 1 | 121146 | 0 | 0.0 | 1.0 | ||
pth2r_human | 106 | N-term | N => D | missense | 3.302e-05 | 4 | 121156 | 0 | 0.09 | 0.999 | ||
pth2r_human | 106 | N-term | N => S | missense | 4.127e-05 | 5 | 121162 | 0 | 0.18 | 0.994 | ||
pth2r_human | 109 | N-term | W => C | missense | 0.0008418 | 102 | 121166 | 0 | 0.0 | 0.999 | ||
pth2r_human | 119 | N-term | W => R | missense | 8.252e-06 | 1 | 121180 | 0 | 0.01 | 0.173 | ||
pth2r_human | 120 | N-term | A => T | missense | 4.126e-05 | 5 | 121174 | 0 | 0.09 | 0.032 | ||
pth2r_human | 120 | N-term | A => D | missense | 8.252e-06 | 1 | 121184 | 0 | 0.0 | 0.519 | ||
pth2r_human | 120 | N-term | A => V | missense | 8.252e-06 | 1 | 121184 | 0 | 0.06 | 0.008 | ||
pth2r_human | 125 | N-term | C => G | missense | 5.776e-05 | 7 | 121184 | 0 | 0.02 | 0.999 | ||
pth2r_human | 127 | N-term | R => C | missense | 0.0001568 | 19 | 121172 | 0 | 0.02 | 0.912 | ||
pth2r_human | 127 | N-term | R => H | missense | 0.0001651 | 20 | 121156 | 0 | 0.24 | 0.016 | ||
pth2r_human | 132 | 1.27x27 | TM1 | D => N | missense | 0.0001156 | 14 | 121124 | 0 | 0.31 | 0.011 | |
pth2r_human | 133 | 1.28x28 | TM1 | I => T | missense | 1.651e-05 | 2 | 121120 | 0 | 0.49 | 0.002 | |
pth2r_human | 135 | 1.30x30 | TM1 | I => L | missense | 8.258e-06 | 1 | 121100 | 0 | 0.3 | 0.002 | |
pth2r_human | 139 | 1.34x34 | TM1 | E => K | missense | 8.239e-06 | 1 | 121378 | 0 | 0.09 | 0.275 | |
pth2r_human | 141 | 1.36x36 | TM1 | F => L | missense | 8.238e-06 | 1 | 121384 | 0 | 0.01 | 0.491 | LB (hydrophobic, Van der Waals) |
pth2r_human | 143 | 1.38x38 | TM1 | R => C | missense | 0.01151 | 1397 | 121394 | 13 | 0.0 | 0.967 | |
pth2r_human | 143 | 1.38x38 | TM1 | R => H | missense | 8.238e-06 | 1 | 121394 | 0 | 0.03 | 0.934 | |
pth2r_human | 145 | 1.40x40 | TM1 | Y => C | missense | 3.295e-05 | 4 | 121394 | 0 | 0.11 | 0.951 | |
pth2r_human | 148 | 1.43x43 | TM1 | Y => H | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.992 | |
pth2r_human | 150 | 1.45x45 | TM1 | V => I | missense | 1.647e-05 | 2 | 121406 | 0 | 0.36 | 0.02 | |
pth2r_human | 153 | 1.48x48 | TM1 | S => Y | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.995 | |
pth2r_human | 154 | 1.49x49 | TM1 | I => T | missense | 8.237e-06 | 1 | 121404 | 0 | 0.07 | 0.297 | |
pth2r_human | 155 | 1.50x50 | TM1 | S => F | missense | 6.59e-05 | 8 | 121404 | 0 | 0.02 | 0.992 | |
pth2r_human | 157 | 1.52x52 | TM1 | G => A | missense | 8.237e-06 | 1 | 121404 | 0 | 1.0 | 0.019 | |
pth2r_human | 162 | 1.57x57 | TM1 | A => S | missense | 0.000313 | 38 | 121402 | 0 | 0.01 | 0.961 | |
pth2r_human | 163 | 1.58x58 | TM1 | I => V | missense | 8.237e-06 | 1 | 121400 | 0 | 1.0 | 0.042 | |
pth2r_human | 165 | 1.60x60 | TM1 | I => F | missense | 1.648e-05 | 2 | 121396 | 0 | 0.01 | 0.905 | |
pth2r_human | 165 | 1.60x60 | TM1 | I => V | missense | 1.648e-05 | 2 | 121396 | 0 | 0.03 | 0.12 | |
pth2r_human | 166 | 1.61x61 | TM1 | I => L | missense | 1.647e-05 | 2 | 121400 | 0 | 1.0 | 0.06 | |
pth2r_human | 166 | 1.61x61 | TM1 | I => T | missense | 1.648e-05 | 2 | 121396 | 0 | 0.01 | 0.219 | |
pth2r_human | 167 | 1.62x62 | TM1 | G => R | missense | 8.238e-06 | 1 | 121390 | 0 | 0.02 | 0.983 | |
pth2r_human | 167 | 1.62x62 | TM1 | G => S | missense | 8.238e-06 | 1 | 121390 | 0 | 0.45 | 0.609 | |
pth2r_human | 167 | 1.62x62 | TM1 | G => V | missense | 8.238e-06 | 1 | 121394 | 0 | 0.09 | 0.58 | |
pth2r_human | 169 | 1.64x64 | TM1 | F => L | missense | 1.648e-05 | 2 | 121392 | 0 | 0.03 | 0.852 | |
pth2r_human | 174 | 2.44x44 | TM2 | C => Y | missense | 8.62e-06 | 1 | 116008 | 0 | 0.0 | 0.997 | |
pth2r_human | 177 | 2.47x47 | TM2 | N => D | missense | 8.524e-06 | 1 | 117316 | 0 | 0.01 | 1.0 | |
pth2r_human | 180 | 2.50x50 | TM2 | H => D | missense | 8.441e-06 | 1 | 118464 | 0 | 0.0 | 1.0 | |
pth2r_human | 180 | 2.50x50 | TM2 | H => L | missense | 1.686e-05 | 2 | 118626 | 0 | 0.02 | 1.0 | |
pth2r_human | 181 | 2.51x51 | TM2 | M => I | missense | 2.519e-05 | 3 | 119108 | 0 | 0.28 | 0.02 | |
pth2r_human | 185 | 2.55x55 | TM2 | V => M | missense | 0.0005162 | 62 | 120108 | 0 | 0.03 | 0.517 | |
pth2r_human | 185 | 2.55x55 | TM2 | V => A | missense | 8.322e-06 | 1 | 120160 | 0 | 0.37 | 0.075 | |
pth2r_human | 191 | 2.61x61 | TM2 | A => T | missense | 1.654e-05 | 2 | 120908 | 0 | 0.0 | 0.997 | |
pth2r_human | 194 | 2.64x64 | TM2 | I => V | missense | 1.652e-05 | 2 | 121054 | 0 | 0.09 | 0.934 | |
pth2r_human | 194 | 2.64x64 | TM2 | I => M | missense | 1.652e-05 | 2 | 121062 | 0 | 0.0 | 0.995 | |
pth2r_human | 202 | 2.72x72 | TM2 | H => P | missense | 8.254e-06 | 1 | 121154 | 0 | 0.05 | 0.932 | |
pth2r_human | 204 | 2.74x74 | TM2 | H => R | missense | 1.651e-05 | 2 | 121146 | 0 | 0.54 | 0.008 | |
pth2r_human | 223 | ECL1 | I => T | missense | 0.000209 | 25 | 119624 | 0 | 0.59 | 0.034 | ||
pth2r_human | 225 | ECL1 | A => S | missense | 0.002758 | 329 | 119302 | 2 | 0.45 | 0.024 | ||
pth2r_human | 225 | ECL1 | A => V | missense | 8.393e-06 | 1 | 119154 | 0 | 0.21 | 0.008 | ||
pth2r_human | 229 | ECL1 | D => H | missense | 1.696e-05 | 2 | 117930 | 0 | 0.06 | 0.971 | ||
pth2r_human | 229 | ECL1 | D => G | missense | 8.491e-06 | 1 | 117772 | 0 | 0.04 | 0.167 | ||
pth2r_human | 233 | 3.26x26 | TM3 | Y => H | missense | 8.573e-06 | 1 | 116642 | 0 | 0.03 | 0.998 | |
pth2r_human | 242 | 3.35x35 | TM3 | M => L | missense | 8.256e-06 | 1 | 121120 | 0 | 1.0 | 0.009 | |
pth2r_human | 242 | 3.35x35 | TM3 | M => I | missense | 4.952e-05 | 6 | 121160 | 0 | 0.06 | 0.213 | |
pth2r_human | 248 | 3.41x41 | TM3 | A => S | missense | 8.242e-06 | 1 | 121330 | 0 | 0.03 | 0.964 | |
pth2r_human | 252 | 3.45x45 | TM3 | Y => H | missense | 2.472e-05 | 3 | 121366 | 0 | 0.03 | 0.948 | |
pth2r_human | 252 | 3.45x45 | TM3 | Y => F | missense | 1.648e-05 | 2 | 121368 | 0 | 0.08 | 0.068 | |
pth2r_human | 258 | 3.51x51 | TM3 | G => D | missense | 8.238e-06 | 1 | 121392 | 0 | 0.0 | 1.0 | |
pth2r_human | 264 | 3.57x57 | TM3 | L => V | missense | 3.295e-05 | 4 | 121390 | 0 | 0.0 | 0.903 | GP (contact) |
pth2r_human | 264 | 3.57x57 | TM3 | L => F | missense | 8.238e-06 | 1 | 121390 | 0 | 0.0 | 0.991 | GP (contact) |
pth2r_human | 265 | 3.58x58 | TM3 | I => M | missense | 3.295e-05 | 4 | 121388 | 0 | 0.0 | 0.99 | GP (contact) |
pth2r_human | 267 | 3.60x60 | TM3 | V => M | missense | 8.238e-06 | 1 | 121386 | 0 | 1.0 | 0.124 | GP (contact) |
pth2r_human | 268 | ICL2 | A => T | missense | 8.239e-06 | 1 | 121378 | 0 | 0.12 | 0.794 | ||
pth2r_human | 270 | ICL2 | F => V | missense | 8.239e-06 | 1 | 121374 | 0 | 0.01 | 0.672 | ||
pth2r_human | 271 | ICL2 | S => P | missense | 8.239e-06 | 1 | 121372 | 0 | 0.0 | 0.985 | ||
pth2r_human | 271 | ICL2 | S => L | missense | 2.472e-05 | 3 | 121370 | 0 | 0.02 | 0.961 | ||
pth2r_human | 272 | ICL2 | D => V | missense | 8.24e-06 | 1 | 121356 | 0 | 0.04 | 0.905 | ||
pth2r_human | 274 | ICL2 | K => E | missense | 1.648e-05 | 2 | 121342 | 0 | 0.04 | 0.72 | ||
pth2r_human | 278 | 4.44x45 | TM4 | G => D | missense | 4.125e-05 | 5 | 121198 | 0 | 0.01 | 0.999 | |
pth2r_human | 278 | 4.44x45 | TM4 | G => V | missense | 8.251e-06 | 1 | 121198 | 0 | 0.19 | 0.999 | |
pth2r_human | 280 | 4.46x47 | TM4 | I => F | missense | 8.256e-06 | 1 | 121118 | 0 | 0.01 | 0.723 | |
pth2r_human | 285 | 4.51x51 | TM4 | G => V | missense | 8.241e-06 | 1 | 121350 | 0 | 0.02 | 0.982 | |
pth2r_human | 289 | 4.55x55 | TM4 | A => T | missense | 2.471e-05 | 3 | 121398 | 0 | 0.12 | 0.011 | |
pth2r_human | 294 | 4.60x60 | TM4 | W => R | missense | 1.647e-05 | 2 | 121400 | 0 | 0.03 | 0.968 | LB (Van der Waals) |
pth2r_human | 296 | 4.62x62 | TM4 | V => L | missense | 8.237e-06 | 1 | 121402 | 0 | 0.52 | 0.014 | |
pth2r_human | 299 | 4.65x65 | TM4 | A => E | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.991 | |
pth2r_human | 300 | 4.66x66 | TM4 | T => A | missense | 1.647e-05 | 2 | 121398 | 0 | 0.07 | 0.044 | |
pth2r_human | 303 | ECL2 | D => H | missense | 0.0001153 | 14 | 121396 | 0 | 0.01 | 0.95 | ||
pth2r_human | 304 | ECL2 | A => V | missense | 8.238e-06 | 1 | 121396 | 0 | 0.01 | 0.173 | ||
pth2r_human | 306 | 45.50x50 | ECL2 | C => F | missense | 8.241e-06 | 1 | 121340 | 0 | 0.0 | 0.99 | |
pth2r_human | 310 | ECL2 | S => T | missense | 8.241e-06 | 1 | 121350 | 0 | 0.05 | 0.153 | ||
pth2r_human | 311 | 5.32x33 | TM5 | A => T | missense | 8.241e-06 | 1 | 121340 | 0 | 0.0 | 0.914 | |
pth2r_human | 311 | 5.32x33 | TM5 | A => V | missense | 2.472e-05 | 3 | 121346 | 0 | 0.08 | 0.358 | |
pth2r_human | 315 | 5.36x37 | TM5 | K => R | missense | 1.648e-05 | 2 | 121344 | 0 | 0.05 | 0.143 | LB (Van der Waals) |
pth2r_human | 320 | 5.41x41 | TM5 | A => V | missense | 4.121e-05 | 5 | 121332 | 0 | 1.0 | 0.054 | |
pth2r_human | 320 | 5.41x41 | TM5 | A => G | missense | 8.242e-06 | 1 | 121332 | 0 | 0.16 | 0.806 | |
pth2r_human | 321 | 5.42x42 | TM5 | P => S | missense | 8.242e-06 | 1 | 121326 | 0 | 0.0 | 0.986 | |
pth2r_human | 321 | 5.42x42 | TM5 | P => L | missense | 4.121e-05 | 5 | 121328 | 0 | 0.02 | 0.476 | |
pth2r_human | 322 | 5.43x43 | TM5 | I => T | missense | 8.242e-06 | 1 | 121326 | 0 | 0.0 | 0.925 | SodiumPocket MicroSwitch LB (hydrophobic, Van der Waals) |
pth2r_human | 326 | 5.47x47 | TM5 | I => V | missense | 8.246e-06 | 1 | 121270 | 0 | 0.15 | 0.026 | |
pth2r_human | 326 | 5.47x47 | TM5 | I => M | missense | 8.247e-06 | 1 | 121250 | 0 | 0.0 | 0.89 | |
pth2r_human | 330 | 5.51x51 | TM5 | F => Y | missense | 7.625e-05 | 9 | 118032 | 0 | 0.01 | 1.0 | |
pth2r_human | 335 | 5.56x56 | TM5 | N => K | missense | 7.492e-05 | 9 | 120126 | 0 | 0.01 | 1.0 | |
pth2r_human | 336 | 5.57x57 | TM5 | T => M | missense | 0.0001331 | 16 | 120240 | 0 | 0.0 | 0.995 | GP (contact) |
pth2r_human | 340 | 5.61x61 | TM5 | L => Q | missense | 8.286e-06 | 1 | 120682 | 0 | 0.0 | 1.0 | GP (contact) |
pth2r_human | 342 | 5.63x63 | TM5 | T => A | missense | 1.656e-05 | 2 | 120768 | 0 | 0.0 | 0.999 | GP (contact) |
pth2r_human | 345 | 5.66x66 | TM5 | W => L | missense | 9.926e-05 | 12 | 120894 | 0 | 0.19 | 0.9 | |
pth2r_human | 348 | ICL3 | N => Y | missense | 1.654e-05 | 2 | 120928 | 0 | 0.0 | 1.0 | ||
pth2r_human | 348 | ICL3 | N => S | missense | 2.481e-05 | 3 | 120926 | 0 | 0.0 | 0.999 | ||
pth2r_human | 350 | ICL3 | V => I | missense | 8.269e-06 | 1 | 120930 | 0 | 0.98 | 0.053 | ||
pth2r_human | 350 | ICL3 | V => F | missense | 8.269e-06 | 1 | 120930 | 0 | 0.08 | 0.795 | ||
pth2r_human | 350 | ICL3 | V => A | missense | 0.0009179 | 111 | 120932 | 4 | 0.19 | 0.423 | ||
pth2r_human | 351 | ICL3 | G => R | missense | 1.654e-05 | 2 | 120912 | 0 | 1.0 | 0.766 | ||
pth2r_human | 362 | 6.39x39 | TM6 | A => S | missense | 1.651e-05 | 2 | 121170 | 0 | 0.14 | 0.687 | SodiumPocket MicroSwitch |
pth2r_human | 364 | 6.41x41 | TM6 | S => L | missense | 5.776e-05 | 7 | 121196 | 0 | 0.0 | 1.0 | GP (contact) |
pth2r_human | 365 | 6.42x42 | TM6 | T => I | missense | 1.65e-05 | 2 | 121222 | 0 | 0.0 | 1.0 | GP (contact) |
pth2r_human | 366 | 6.43x43 | TM6 | L => Q | missense | 8.248e-06 | 1 | 121242 | 0 | 0.0 | 0.777 | |
pth2r_human | 369 | 6.46x46 | TM6 | V => I | missense | 8.247e-06 | 1 | 121260 | 0 | 0.38 | 0.152 | |
pth2r_human | 372 | 6.49x49 | TM6 | F => L | missense | 8.247e-06 | 1 | 121260 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
pth2r_human | 373 | 6.50x50 | TM6 | G => A | missense | 8.247e-06 | 1 | 121252 | 0 | 0.0 | 1.0 | |
pth2r_human | 374 | 6.51x51 | TM6 | V => M | missense | 1.649e-05 | 2 | 121296 | 0 | 0.03 | 0.633 | |
pth2r_human | 375 | 6.52x52 | TM6 | H => Q | missense | 8.244e-06 | 1 | 121296 | 0 | 0.0 | 1.0 | |
pth2r_human | 380 | 6.57x57 | TM6 | V => I | missense | 1.649e-05 | 2 | 121288 | 0 | 0.27 | 0.05 | |
pth2r_human | 387 | ECL3 | T => A | missense | 8.243e-06 | 1 | 121314 | 0 | nan | 0.012 | ||
pth2r_human | 390 | 7.34x33 | TM7 | G => R | missense | 2.473e-05 | 3 | 121308 | 0 | nan | 0.952 | |
pth2r_human | 390 | 7.34x33 | TM7 | G => R | missense | 8.243e-06 | 1 | 121308 | 0 | nan | 0.952 | |
pth2r_human | 390 | 7.34x33 | TM7 | G => V | missense | 8.242e-06 | 1 | 121326 | 0 | nan | 0.864 | |
pth2r_human | 393 | 7.37x36 | TM7 | I => F | missense | 0.0001484 | 18 | 121326 | 0 | nan | 0.857 | |
pth2r_human | 394 | 7.38x37 | TM7 | R => C | missense | 4.121e-05 | 5 | 121318 | 0 | nan | 1.0 | |
pth2r_human | 394 | 7.38x37 | TM7 | R => P | missense | 8.243e-06 | 1 | 121314 | 0 | nan | 1.0 | |
pth2r_human | 394 | 7.38x37 | TM7 | R => H | missense | 1.649e-05 | 2 | 121314 | 0 | nan | 1.0 | |
pth2r_human | 399 | 7.43x42 | TM7 | L => F | missense | 8.242e-06 | 1 | 121326 | 0 | nan | 1.0 | LB (hydrophobic, Van der Waals) |
pth2r_human | 402 | 7.46x45 | TM7 | N => Y | missense | 8.243e-06 | 1 | 121310 | 0 | nan | 1.0 | |
pth2r_human | 403 | 7.47x46 | TM7 | S => P | missense | 8.244e-06 | 1 | 121306 | 0 | nan | 1.0 | |
pth2r_human | 404 | 7.48x47 | TM7 | F => S | missense | 8.244e-06 | 1 | 121300 | 0 | 0.27 | 1.0 | SodiumPocket MicroSwitch |
pth2r_human | 411 | 7.55x55 | TM7 | I => V | missense | 8.243e-06 | 1 | 121312 | 0 | 0.09 | 0.05 | |
pth2r_human | 412 | 7.56x56 | TM7 | I => T | missense | 1.649e-05 | 2 | 121312 | 0 | nan | 0.721 | |
pth2r_human | 424 | 8.54x54 | H8 | V => M | missense | 1.809e-05 | 2 | 110570 | 0 | 0.08 | 0.035 | |
pth2r_human | 427 | 8.57x57 | H8 | M => I | missense | 2.713e-05 | 3 | 110590 | 0 | 0.11 | 0.001 | |
pth2r_human | 430 | 8.60x60 | H8 | R => W | missense | 7.23e-05 | 8 | 110648 | 0 | 0.0 | 0.992 | |
pth2r_human | 430 | 8.60x60 | H8 | R => Q | missense | 1.807e-05 | 2 | 110666 | 0 | 0.0 | 0.734 | |
pth2r_human | 432 | 8.62x62 | H8 | N => K | missense | 8.99e-06 | 1 | 111234 | 0 | 0.14 | 0.394 | |
pth2r_human | 435 | C-term | V => M | missense | 0.004678 | 520 | 111166 | 6 | 0.04 | 0.018 | ||
pth2r_human | 438 | C-term | K => E | missense | 8.995e-05 | 10 | 111172 | 0 | 0.05 | 0.012 | ||
pth2r_human | 440 | C-term | T => S | missense | 0.0002786 | 31 | 111270 | 0 | 0.19 | 0.11 | ||
pth2r_human | 442 | C-term | P => T | missense | 8.972e-06 | 1 | 111460 | 0 | 0.47 | 0.287 | ||
pth2r_human | 446 | C-term | R => C | missense | 8.954e-06 | 1 | 111688 | 0 | 0.2 | 0.326 | ||
pth2r_human | 446 | C-term | R => H | missense | 1.79e-05 | 2 | 111752 | 0 | 0.56 | 0.0 | ||
pth2r_human | 449 | C-term | G => S | missense | 0.0001868 | 21 | 112430 | 1 | 0.06 | 0.68 | ||
pth2r_human | 449 | C-term | G => D | missense | 8.891e-06 | 1 | 112476 | 0 | 0.0 | 0.972 | ||
pth2r_human | 455 | C-term | V => M | missense | 5.273e-05 | 6 | 113790 | 0 | 0.48 | 0.008 | ||
pth2r_human | 456 | C-term | T => A | missense | 1.754e-05 | 2 | 114038 | 1 | 0.09 | 0.891 | ||
pth2r_human | 456 | C-term | T => M | missense | 0.0001315 | 15 | 114058 | 0 | 0.07 | 0.983 | ||
pth2r_human | 457 | C-term | H => Q | missense | 8.755e-06 | 1 | 114224 | 0 | 0.18 | 0.017 | ||
pth2r_human | 459 | C-term | T => I | missense | 8.725e-06 | 1 | 114614 | 0 | 0.03 | 0.418 | ||
pth2r_human | 459 | C-term | T => S | missense | 8.725e-06 | 1 | 114614 | 0 | 0.37 | 0.043 | ||
pth2r_human | 462 | C-term | Q => K | missense | 1.733e-05 | 2 | 115430 | 0 | 0.36 | 0.543 | ||
pth2r_human | 464 | C-term | Q => H | missense | 8.641e-06 | 1 | 115734 | 0 | 0.3 | 0.015 | ||
pth2r_human | 466 | C-term | A => V | missense | 2.594e-05 | 3 | 115644 | 0 | 0.34 | 0.009 | ||
pth2r_human | 470 | C-term | R => C | missense | 6.022e-05 | 7 | 116236 | 0 | 0.0 | 0.8 | ||
pth2r_human | 470 | C-term | R => L | missense | 8.606e-06 | 1 | 116204 | 0 | 0.03 | 0.428 | ||
pth2r_human | 471 | C-term | M => K | missense | 8.587e-06 | 1 | 116450 | 0 | 0.45 | 0.051 | ||
pth2r_human | 472 | C-term | V => M | missense | 6.01e-05 | 7 | 116474 | 0 | 0.09 | 0.599 | ||
pth2r_human | 474 | C-term | I => V | missense | 8.567e-06 | 1 | 116730 | 0 | 0.2 | 0.002 | ||
pth2r_human | 474 | C-term | I => S | missense | 6.85e-05 | 8 | 116792 | 0 | 0.09 | 0.075 | ||
pth2r_human | 474 | C-term | I => T | missense | 8.562e-06 | 1 | 116792 | 0 | 0.15 | 0.075 | ||
pth2r_human | 475 | C-term | S => P | missense | 8.56e-06 | 1 | 116818 | 0 | 0.22 | 0.682 | ||
pth2r_human | 477 | C-term | K => R | missense | 8.534e-06 | 1 | 117174 | 0 | 0.59 | 0.015 | ||
pth2r_human | 479 | C-term | A => T | missense | 2.556e-05 | 3 | 117376 | 0 | 0.79 | 0.001 | ||
pth2r_human | 482 | C-term | A => S | missense | 5.093e-05 | 6 | 117814 | 0 | 0.25 | 0.012 | ||
pth2r_human | 482 | C-term | A => T | missense | 8.488e-06 | 1 | 117814 | 0 | 0.23 | 0.012 | ||
pth2r_human | 483 | C-term | S => G | missense | 1.693e-05 | 2 | 118100 | 0 | 0.52 | 0.0 | ||
pth2r_human | 483 | C-term | S => R | missense | 8.472e-06 | 1 | 118036 | 0 | 0.25 | 0.003 | ||
pth2r_human | 490 | C-term | I => V | missense | 1.68e-05 | 2 | 119052 | 0 | 1.0 | 0.0 | ||
pth2r_human | 494 | C-term | G => D | missense | 1.673e-05 | 2 | 119556 | 0 | 0.0 | 0.998 | ||
pth2r_human | 495 | C-term | Y => C | missense | 8.352e-06 | 1 | 119732 | 0 | 0.01 | 0.086 | ||
pth2r_human | 506 | C-term | P => L | missense | 1.662e-05 | 2 | 120362 | 0 | 0.06 | 0.548 | ||
pth2r_human | 507 | C-term | H => Q | missense | 8.307e-06 | 1 | 120382 | 0 | 0.32 | 0.001 | ||
pth2r_human | 511 | C-term | E => K | missense | 0.001123 | 135 | 120244 | 1 | 0.06 | 0.04 | ||
pth2r_human | 514 | C-term | K => E | missense | 0.0008413 | 101 | 120056 | 0 | 0.53 | 0.0 | ||
pth2r_human | 514 | C-term | K => R | missense | 8.333e-06 | 1 | 120008 | 0 | 0.21 | 0.001 | ||
pth2r_human | 516 | C-term | D => H | missense | 2.505e-05 | 3 | 119756 | 0 | 0.17 | 0.002 | ||
pth2r_human | 520 | C-term | Q => R | missense | 8.417e-06 | 1 | 118808 | 0 | 0.4 | 0.002 | ||
pth2r_human | 521 | C-term | G => E | missense | 8.436e-06 | 1 | 118536 | 0 | 0.37 | 0.002 | ||
pth2r_human | 522 | C-term | D => Y | missense | 1.69e-05 | 2 | 118364 | 0 | 0.01 | 0.599 | ||
pth2r_human | 528 | C-term | K => M | missense | 1.718e-05 | 2 | 116384 | 0 | 0.01 | 0.129 | ||
pth2r_human | 529 | C-term | P => A | missense | 8.626e-06 | 1 | 115924 | 0 | 0.56 | 0.0 | ||
pth2r_human | 529 | C-term | P => T | missense | 2.588e-05 | 3 | 115924 | 0 | 0.47 | 0.002 | ||
pth2r_human | 529 | C-term | P => L | missense | 1.725e-05 | 2 | 115928 | 0 | 0.19 | 0.021 | ||
pth2r_human | 532 | C-term | P => S | missense | 8.694e-06 | 1 | 115018 | 0 | 0.16 | 0.007 | ||
pth2r_human | 533 | C-term | M => L | missense | 3.485e-05 | 4 | 114766 | 0 | 0.92 | 0.0 | ||
pth2r_human | 533 | C-term | M => V | missense | 1.743e-05 | 2 | 114766 | 0 | 1.0 | 0.0 | ||
pth2r_human | 534 | C-term | E => D | missense | 8.738e-06 | 1 | 114438 | 0 | 0.26 | 0.001 | ||
pth2r_human | 537 | C-term | P => Q | missense | 8.804e-06 | 1 | 113586 | 0 | 0.55 | 0.032 | ||
pth2r_human | 543 | C-term | Q => R | missense | 1.79e-05 | 2 | 111724 | 0 | 0.54 | 0.0 | ||
pth2r_human | 548 | C-term | D => A | missense | 9.045e-06 | 1 | 110554 | 0 | 0.05 | 0.05 |
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