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 |
s1pr1_human | 283 | ECL3 | K => Ter | stop gained | 8.276e-06 | 1 | 120838 | 0 | None | None | ||
s1pr1_human | 3 | N-term | P => T | missense | 1.785e-05 | 2 | 112034 | 0 | 0.17 | 0.0 | ||
s1pr1_human | 5 | N-term | S => G | missense | 8.763e-06 | 1 | 114122 | 0 | 0.13 | 0.0 | PTM (O-GalNAc) | |
s1pr1_human | 11 | N-term | A => D | missense | 0.00455 | 539 | 118470 | 11 | 0.23 | 0.019 | ||
s1pr1_human | 13 | N-term | R => G | missense | 0.01404 | 1678 | 119544 | 17 | 0.39 | 0.001 | ||
s1pr1_human | 13 | N-term | R => H | missense | 8.354e-06 | 1 | 119704 | 0 | 0.08 | 0.002 | ||
s1pr1_human | 15 | N-term | S => L | missense | 1.661e-05 | 2 | 120408 | 0 | 0.33 | 0.001 | ||
s1pr1_human | 15 | N-term | S => W | missense | 1.661e-05 | 2 | 120408 | 0 | 0.02 | 0.473 | ||
s1pr1_human | 20 | N-term | V => F | missense | 8.255e-06 | 1 | 121134 | 0 | 0.66 | 0.001 | ||
s1pr1_human | 27 | N-term | R => Q | missense | 8.239e-06 | 1 | 121370 | 0 | 0.51 | 0.001 | ||
s1pr1_human | 38 | N-term | S => G | missense | 8.237e-06 | 1 | 121406 | 0 | 0.42 | 0.0 | ||
s1pr1_human | 38 | N-term | S => R | missense | 8.237e-06 | 1 | 121406 | 0 | 0.74 | 0.001 | ||
s1pr1_human | 39 | N-term | A => T | missense | 1.647e-05 | 2 | 121406 | 0 | 0.61 | 0.0 | ||
s1pr1_human | 45 | 1.32x32 | TM1 | I => T | missense | 0.002001 | 243 | 121412 | 6 | 0.23 | 0.002 | |
s1pr1_human | 51 | 1.38x38 | TM1 | V => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.03 | 0.01 | |
s1pr1_human | 54 | 1.41x41 | TM1 | L => I | missense | 8.236e-06 | 1 | 121412 | 0 | 0.94 | 0.001 | |
s1pr1_human | 61 | 1.48x48 | TM1 | L => M | missense | 8.236e-06 | 1 | 121412 | 0 | 0.01 | 0.693 | |
s1pr1_human | 64 | 1.51x51 | TM1 | I => M | missense | 3.295e-05 | 4 | 121412 | 0 | 0.03 | 0.099 | |
s1pr1_human | 79 | 2.38x38 | TM2 | P => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.14 | 0.977 | |
s1pr1_human | 81 | 2.40x40 | TM2 | Y => C | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.998 | |
s1pr1_human | 115 | 3.23x23 | TM3 | A => T | missense | 8.238e-06 | 1 | 121396 | 0 | 0.82 | 0.013 | |
s1pr1_human | 123 | 3.31x31 | TM3 | S => C | missense | 8.237e-06 | 1 | 121410 | 0 | 0.03 | 0.275 | |
s1pr1_human | 123 | 3.31x31 | TM3 | S => R | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.908 | |
s1pr1_human | 137 | 3.45x45 | TM3 | A => S | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.999 | |
s1pr1_human | 153 | 34.54x54 | ICL2 | N => D | missense | 8.241e-06 | 1 | 121348 | 0 | 1.0 | 0.004 | GP (contact) |
s1pr1_human | 157 | 4.39x39 | TM4 | N => K | missense | 8.241e-06 | 1 | 121338 | 0 | 1.0 | 0.002 | |
s1pr1_human | 166 | 4.48x48 | TM4 | A => T | missense | 8.242e-06 | 1 | 121326 | 0 | 0.25 | 0.05 | |
s1pr1_human | 172 | 4.54x54 | TM4 | L => F | missense | 8.242e-06 | 1 | 121332 | 0 | 0.28 | 0.052 | |
s1pr1_human | 180 | 4.62x62 | TM4 | M => I | missense | 8.242e-06 | 1 | 121334 | 0 | 0.11 | 0.068 | LB (hydrophobic) |
s1pr1_human | 185 | ECL2 | I => V | missense | 8.242e-06 | 1 | 121330 | 0 | 0.04 | 0.007 | ||
s1pr1_human | 186 | ECL2 | S => I | missense | 8.242e-06 | 1 | 121328 | 0 | 0.05 | 0.094 | ||
s1pr1_human | 190 | ECL2 | S => N | missense | 8.241e-06 | 1 | 121338 | 0 | 0.21 | 0.003 | ||
s1pr1_human | 198 | ECL2 | Y => C | missense | 8.24e-06 | 1 | 121352 | 0 | 0.0 | 0.885 | ||
s1pr1_human | 215 | 5.52x52 | TM5 | L => V | missense | 1.648e-05 | 2 | 121350 | 0 | 0.36 | 0.129 | |
s1pr1_human | 216 | 5.53x53 | TM5 | S => C | missense | 8.241e-06 | 1 | 121342 | 0 | 0.0 | 0.759 | |
s1pr1_human | 224 | 5.61x61 | TM5 | I => T | missense | 8.242e-06 | 1 | 121334 | 0 | 0.0 | 0.997 | GP (contact) |
s1pr1_human | 224 | 5.61x61 | TM5 | I => N | missense | 8.242e-06 | 1 | 121334 | 0 | 0.0 | 0.999 | GP (contact) |
s1pr1_human | 231 | 5.68x68 | TM5 | R => W | missense | 8.245e-06 | 1 | 121288 | 0 | 0.01 | 0.983 | GP (contact) |
s1pr1_human | 231 | 5.68x68 | TM5 | R => Q | missense | 8.244e-06 | 1 | 121298 | 0 | 0.15 | 0.283 | GP (contact) |
s1pr1_human | 238 | ICL3 | R => C | missense | 0.0001732 | 21 | 121280 | 0 | 0.01 | 0.93 | ||
s1pr1_human | 239 | ICL3 | K => E | missense | 8.246e-06 | 1 | 121278 | 0 | 0.23 | 0.507 | ||
s1pr1_human | 241 | ICL3 | I => V | missense | 2.474e-05 | 3 | 121254 | 0 | 0.68 | 0.001 | ||
s1pr1_human | 243 | ICL3 | K => R | missense | 1.65e-05 | 2 | 121232 | 0 | 0.64 | 0.005 | ||
s1pr1_human | 245 | 6.24x24 | TM6 | S => G | missense | 8.249e-06 | 1 | 121234 | 0 | 0.18 | 0.099 | |
s1pr1_human | 245 | 6.24x24 | TM6 | S => N | missense | 3.3e-05 | 4 | 121228 | 0 | 0.29 | 0.005 | |
s1pr1_human | 267 | 6.46x46 | TM6 | A => T | missense | 8.264e-06 | 1 | 121012 | 0 | 0.07 | 0.432 | |
s1pr1_human | 270 | 6.49x49 | TM6 | A => V | missense | 8.266e-06 | 1 | 120984 | 0 | 0.15 | 0.043 | |
s1pr1_human | 276 | 6.55x55 | TM6 | L => F | missense | 8.269e-06 | 1 | 120932 | 0 | 0.21 | 0.866 | LB (hydrophobic, Van der Waals) |
s1pr1_human | 293 | 7.35x34 | TM7 | A => T | missense | 8.282e-06 | 1 | 120742 | 0 | 0.04 | 0.092 | LB (hydrophobic) |
s1pr1_human | 307 | 7.49x49 | TM7 | N => D | missense | 8.286e-06 | 1 | 120692 | 0 | 0.0 | 1.0 | SodiumPocket MicroSwitch |
s1pr1_human | 309 | 7.51x51 | TM7 | I => L | missense | 8.286e-06 | 1 | 120684 | 0 | 0.27 | 0.047 | |
s1pr1_human | 314 | 7.56x56 | TM7 | T => S | missense | 0.0002238 | 27 | 120650 | 0 | 0.4 | 0.001 | GP (contact) |
s1pr1_human | 323 | 8.55x55 | H8 | I => L | missense | 8.303e-06 | 1 | 120440 | 0 | 1.0 | 0.0 | |
s1pr1_human | 324 | 8.56x56 | H8 | R => Q | missense | 8.307e-06 | 1 | 120384 | 0 | 0.01 | 0.078 | |
s1pr1_human | 326 | 8.58x58 | H8 | M => T | missense | 8.312e-06 | 1 | 120302 | 0 | 0.0 | 0.005 | |
s1pr1_human | 332 | C-term | P => A | missense | 8.344e-06 | 1 | 119846 | 0 | 0.55 | 0.0 | ||
s1pr1_human | 332 | C-term | P => R | missense | 5.009e-05 | 6 | 119778 | 0 | 0.39 | 0.001 | ||
s1pr1_human | 332 | C-term | P => Q | missense | 8.349e-06 | 1 | 119778 | 0 | 0.33 | 0.063 | ||
s1pr1_human | 334 | C-term | G => R | missense | 4.181e-05 | 5 | 119578 | 0 | 0.46 | 0.001 | ||
s1pr1_human | 342 | C-term | R => Q | missense | 8.426e-06 | 1 | 118676 | 0 | 0.44 | 0.006 | ||
s1pr1_human | 344 | C-term | I => M | missense | 8.478e-06 | 1 | 117950 | 0 | 0.23 | 0.615 | ||
s1pr1_human | 346 | C-term | A => S | missense | 8.486e-06 | 1 | 117842 | 0 | 0.83 | 0.002 | ||
s1pr1_human | 352 | C-term | R => G | missense | 2.569e-05 | 3 | 116782 | 0 | 0.35 | 0.023 | ||
s1pr1_human | 352 | C-term | R => C | missense | 8.563e-06 | 1 | 116782 | 0 | 0.12 | 0.032 | ||
s1pr1_human | 358 | C-term | S => C | missense | 8.604e-06 | 1 | 116220 | 0 | 0.01 | 0.96 | PTM (Phosphorylation) | |
s1pr1_human | 365 | C-term | E => K | missense | 8.62e-06 | 1 | 116014 | 0 | 0.24 | 0.001 | ||
s1pr1_human | 367 | C-term | D => G | missense | 1.724e-05 | 2 | 115996 | 0 | 0.17 | 0.002 | ||
s1pr1_human | 374 | C-term | S => F | missense | 8.629e-06 | 1 | 115894 | 0 | 0.0 | 0.839 | ||
s1pr1_human | 378 | C-term | V => I | missense | 8.634e-06 | 1 | 115818 | 0 | 0.69 | 0.001 | ||
s1pr1_human | 380 | C-term | S => Y | missense | 1.729e-05 | 2 | 115664 | 0 | 0.02 | 0.825 |
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