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 |
nk1r_human | 389 | C-term | R => Ter | stop gained | 8.261e-06 | 1 | 121056 | 0 | None | None | ||
nk1r_human | 364 | C-term | A => GlyfsTer28 | frameshift | 8.25e-06 | 1 | 121206 | 0 | None | None | ||
nk1r_human | 303 | 7.51x51 | TM7 | I => SerfsTer34 | frameshift | 8.236e-06 | 1 | 121412 | 0 | None | None | |
nk1r_human | 192 | 5.34x35 | TM5 | Y => Ter | stop gained | 1.71e-05 | 2 | 116982 | 0 | None | None | |
nk1r_human | 139 | ICL2 | Q => Ter | stop gained | 8.322e-06 | 1 | 120166 | 0 | None | None | ||
nk1r_human | 104 | 3.24x24 | TM3 | Y => Ter | stop gained | 1.647e-05 | 2 | 121412 | 0 | None | None | |
nk1r_human | 103 | 3.23x23 | TM3 | F => ValfsTer27 | frameshift | 8.236e-06 | 1 | 121412 | 0 | None | None | |
nk1r_human | 79 | 2.51x51 | TM2 | A => ProfsTer10 | frameshift | 4.118e-05 | 5 | 121412 | 0 | None | None | |
nk1r_human | 35 | 1.35x35 | TM1 | W => Ter | stop gained | 8.275e-06 | 1 | 120842 | 0 | None | None | |
nk1r_human | 20 | N-term | S => Ter | stop gained | 1.661e-05 | 2 | 120414 | 0 | None | None | ||
nk1r_human | 399 | C-term | F => L | missense | 8.271e-06 | 1 | 120910 | 0 | 1.0 | 0.0 | ||
nk1r_human | 393 | C-term | K => E | missense | 8.262e-06 | 1 | 121030 | 0 | 0.03 | 0.722 | ||
nk1r_human | 391 | C-term | D => N | missense | 8.262e-06 | 1 | 121042 | 0 | 0.66 | 0.001 | ||
nk1r_human | 390 | C-term | S => T | missense | 8.261e-06 | 1 | 121048 | 0 | 0.08 | 0.015 | ||
nk1r_human | 390 | C-term | S => N | missense | 8.261e-06 | 1 | 121048 | 0 | 0.08 | 0.368 | ||
nk1r_human | 389 | C-term | R => G | missense | 8.261e-06 | 1 | 121056 | 0 | 0.04 | 0.005 | ||
nk1r_human | 384 | C-term | S => C | missense | 2.478e-05 | 3 | 121088 | 0 | 0.12 | 0.052 | ||
nk1r_human | 384 | C-term | S => P | missense | 8.258e-06 | 1 | 121092 | 0 | 0.15 | 0.809 | ||
nk1r_human | 378 | C-term | S => L | missense | 0.0002394 | 29 | 121116 | 0 | 0.47 | 0.001 | ||
nk1r_human | 377 | C-term | P => T | missense | 8.255e-06 | 1 | 121140 | 0 | 0.62 | 0.017 | ||
nk1r_human | 376 | C-term | T => P | missense | 8.255e-06 | 1 | 121146 | 0 | 0.17 | 0.0 | ||
nk1r_human | 372 | C-term | G => V | missense | 8.254e-06 | 1 | 121156 | 0 | 0.06 | 0.007 | ||
nk1r_human | 369 | C-term | P => A | missense | 4.126e-05 | 5 | 121172 | 0 | 0.61 | 0.0 | ||
nk1r_human | 366 | C-term | E => K | missense | 1.65e-05 | 2 | 121200 | 0 | 0.43 | 0.003 | ||
nk1r_human | 365 | C-term | H => Q | missense | 0.0001073 | 13 | 121196 | 0 | 0.71 | 0.0 | ||
nk1r_human | 365 | C-term | H => R | missense | 5.776e-05 | 7 | 121198 | 0 | 0.46 | 0.0 | ||
nk1r_human | 361 | C-term | V => A | missense | 8.25e-06 | 1 | 121214 | 0 | 0.48 | 0.006 | ||
nk1r_human | 357 | C-term | T => P | missense | 1.65e-05 | 2 | 121228 | 0 | 0.08 | 0.007 | ||
nk1r_human | 354 | C-term | L => M | missense | 1.65e-05 | 2 | 121204 | 0 | 1.0 | 0.001 | ||
nk1r_human | 353 | C-term | R => H | missense | 1.65e-05 | 2 | 121204 | 0 | 0.0 | 0.908 | ||
nk1r_human | 353 | C-term | R => C | missense | 8.25e-06 | 1 | 121208 | 0 | 0.0 | 0.97 | ||
nk1r_human | 352 | C-term | S => N | missense | 8.25e-06 | 1 | 121210 | 0 | 0.17 | 0.005 | ||
nk1r_human | 351 | C-term | V => G | missense | 8.25e-06 | 1 | 121208 | 0 | 0.05 | 0.08 | ||
nk1r_human | 348 | C-term | V => L | missense | 8.252e-06 | 1 | 121184 | 0 | 0.86 | 0.0 | ||
nk1r_human | 347 | C-term | S => N | missense | 3.301e-05 | 4 | 121184 | 0 | 0.07 | 0.884 | PTM (Phosphorylation) | |
nk1r_human | 340 | C-term | R => Q | missense | 3.304e-05 | 4 | 121074 | 0 | 0.02 | 0.961 | ||
nk1r_human | 340 | C-term | R => W | missense | 1.652e-05 | 2 | 121052 | 0 | 0.0 | 0.999 | ||
nk1r_human | 330 | C-term | D => N | missense | 9.954e-05 | 12 | 120558 | 0 | 0.07 | 0.001 | ||
nk1r_human | 329 | C-term | G => S | missense | 9.13e-05 | 11 | 120488 | 0 | 1.0 | 0.001 | ||
nk1r_human | 328 | C-term | A => T | missense | 0.000166 | 20 | 120452 | 0 | 0.4 | 0.0 | ||
nk1r_human | 321 | C-term | R => W | missense | 8.362e-05 | 10 | 119586 | 0 | 0.0 | 0.855 | ||
nk1r_human | 319 | 8.57x57 | H8 | A => D | missense | 8.387e-06 | 1 | 119228 | 0 | 0.0 | 0.89 | |
nk1r_human | 317 | 8.55x55 | H8 | K => Q | missense | 2.534e-05 | 3 | 118408 | 0 | 0.23 | 0.109 | |
nk1r_human | 314 | 8.52x52 | H8 | L => M | missense | 1.712e-05 | 2 | 116852 | 0 | 0.07 | 0.004 | |
nk1r_human | 313 | 8.51x51 | H8 | R => H | missense | 5.148e-05 | 6 | 116554 | 0 | 0.01 | 0.992 | GP (contact) |
nk1r_human | 313 | 8.51x51 | H8 | R => C | missense | 8.603e-06 | 1 | 116238 | 0 | 0.0 | 0.999 | GP (contact) |
nk1r_human | 311 | 8.49x49 | H8 | R => S | missense | 8.669e-06 | 1 | 115360 | 0 | 0.0 | 0.995 | GP (contact) |
nk1r_human | 310 | 8.48x48 | H8 | D => Y | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.948 | GP (contact) |
nk1r_human | 304 | 7.52x52 | TM7 | I => N | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.999 | |
nk1r_human | 304 | 7.52x52 | TM7 | I => F | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.999 | |
nk1r_human | 303 | 7.51x51 | TM7 | I => V | missense | 1.647e-05 | 2 | 121412 | 0 | 0.04 | 0.159 | |
nk1r_human | 299 | 7.47x47 | TM7 | M => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.992 | |
nk1r_human | 291 | 7.39x38 | TM7 | M => I | missense | 2.471e-05 | 3 | 121412 | 0 | 0.02 | 0.641 | LB (polar (hydrogen bond)) |
nk1r_human | 291 | 7.39x38 | TM7 | M => T | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.992 | LB (polar (hydrogen bond)) |
nk1r_human | 285 | 7.33x32 | TM7 | Q => E | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.974 | |
nk1r_human | 273 | 6.60x60 | TM6 | I => L | missense | 8.238e-06 | 1 | 121394 | 0 | 0.37 | 0.003 | |
nk1r_human | 267 | 6.54x54 | TM6 | F => S | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 0.276 | LB (hydrophobic, Van der Waals) |
nk1r_human | 266 | 6.53x53 | TM6 | I => L | missense | 6.593e-05 | 8 | 121340 | 0 | 0.49 | 0.016 | |
nk1r_human | 259 | 6.46x46 | TM6 | I => V | missense | 8.256e-06 | 1 | 121130 | 0 | 0.64 | 0.001 | |
nk1r_human | 258 | 6.45x45 | TM6 | A => T | missense | 8.258e-06 | 1 | 121098 | 0 | 0.0 | 0.813 | |
nk1r_human | 253 | 6.40x40 | TM6 | V => M | missense | 0.0007952 | 96 | 120722 | 0 | 0.0 | 1.0 | GP (contact) |
nk1r_human | 253 | 6.40x40 | TM6 | V => L | missense | 8.283e-06 | 1 | 120722 | 0 | 0.01 | 0.989 | GP (contact) |
nk1r_human | 244 | 6.31x31 | TM6 | R => H | missense | 9.024e-06 | 1 | 110814 | 0 | 0.04 | 0.937 | |
nk1r_human | 244 | 6.31x31 | TM6 | R => L | missense | 9.024e-06 | 1 | 110814 | 0 | 0.0 | 0.999 | |
nk1r_human | 240 | 6.27x27 | TM6 | V => A | missense | 0.0001706 | 19 | 111362 | 0 | 0.0 | 0.529 | |
nk1r_human | 240 | 6.27x27 | TM6 | V => F | missense | 8.976e-06 | 1 | 111404 | 0 | 0.01 | 0.657 | |
nk1r_human | 238 | 6.25x25 | TM6 | E => K | missense | 8.949e-06 | 1 | 111748 | 0 | 0.1 | 0.821 | GP (contact) |
nk1r_human | 237 | 6.24x24 | TM6 | H => Q | missense | 2.681e-05 | 3 | 111912 | 0 | 0.46 | 0.004 | |
nk1r_human | 237 | 6.24x24 | TM6 | H => Q | missense | 8.936e-06 | 1 | 111912 | 0 | 0.46 | 0.004 | |
nk1r_human | 236 | 6.23x23 | TM6 | Y => S | missense | 8.919e-06 | 1 | 112124 | 0 | 0.02 | 0.978 | |
nk1r_human | 235 | 6.22x22 | TM6 | R => H | missense | 8.018e-05 | 9 | 112252 | 0 | 0.26 | 0.051 | |
nk1r_human | 235 | 6.22x22 | TM6 | R => C | missense | 2.663e-05 | 3 | 112672 | 0 | 0.02 | 0.978 | |
nk1r_human | 232 | ICL3 | S => Y | missense | 1.761e-05 | 2 | 113582 | 0 | 0.06 | 0.978 | ||
nk1r_human | 232 | ICL3 | S => A | missense | 1.759e-05 | 2 | 113678 | 0 | 0.27 | 0.325 | ||
nk1r_human | 222 | 5.64x64 | TM5 | T => S | missense | 8.438e-06 | 1 | 118506 | 0 | 0.08 | 0.229 | GP (contact) |
nk1r_human | 221 | 5.63x63 | TM5 | I => M | missense | 8.433e-06 | 1 | 118588 | 0 | 0.12 | 0.054 | |
nk1r_human | 219 | 5.61x61 | TM5 | V => A | missense | 3.351e-05 | 4 | 119364 | 0 | 0.0 | 0.988 | GP (contact) |
nk1r_human | 218 | 5.60x60 | TM5 | V => A | missense | 3.342e-05 | 4 | 119702 | 0 | 0.17 | 0.022 | |
nk1r_human | 218 | 5.60x60 | TM5 | V => I | missense | 2.506e-05 | 3 | 119732 | 0 | 0.95 | 0.001 | |
nk1r_human | 218 | 5.60x60 | TM5 | V => L | missense | 8.352e-06 | 1 | 119732 | 0 | 0.21 | 0.004 | |
nk1r_human | 215 | 5.57x57 | TM5 | A => V | missense | 8.306e-06 | 1 | 120396 | 0 | 0.0 | 0.728 | |
nk1r_human | 212 | 5.54x54 | TM5 | I => T | missense | 8.273e-06 | 1 | 120882 | 0 | 0.02 | 0.857 | |
nk1r_human | 202 | 5.44x45 | TM5 | V => M | missense | 2.476e-05 | 3 | 121140 | 0 | 0.02 | 0.08 | |
nk1r_human | 192 | 5.34x35 | TM5 | Y => F | missense | 8.541e-06 | 1 | 117088 | 0 | 1.0 | 0.0 | |
nk1r_human | 192 | 5.34x35 | TM5 | Y => H | missense | 8.528e-05 | 10 | 117264 | 0 | 0.37 | 0.555 | |
nk1r_human | 190 | 5.32x33 | TM5 | K => R | missense | 8.481e-06 | 1 | 117914 | 0 | 0.43 | 0.0 | |
nk1r_human | 188 | 5.30x31 | TM5 | P => L | missense | 5.875e-05 | 7 | 119140 | 0 | 0.11 | 0.004 | |
nk1r_human | 186 | ECL2 | E => Q | missense | 5.833e-05 | 7 | 120004 | 0 | 0.14 | 0.178 | ||
nk1r_human | 183 | ECL2 | E => K | missense | 1.658e-05 | 2 | 120644 | 0 | 0.85 | 0.022 | ||
nk1r_human | 181 | 45.51x51 | ECL2 | M => K | missense | 8.266e-06 | 1 | 120972 | 0 | 0.03 | 0.099 | LB (hydrophobic, Van der Waals, polar (hydrogen bond)) |
nk1r_human | 179 | ECL2 | V => A | missense | 8.258e-06 | 1 | 121094 | 0 | 0.02 | 0.729 | ||
nk1r_human | 179 | ECL2 | V => M | missense | 8.257e-06 | 1 | 121110 | 0 | 0.03 | 0.863 | ||
nk1r_human | 174 | ECL2 | M => T | missense | 1.649e-05 | 2 | 121284 | 0 | 0.41 | 0.023 | ||
nk1r_human | 174 | ECL2 | M => V | missense | 8.245e-06 | 1 | 121288 | 0 | 0.48 | 0.001 | ||
nk1r_human | 171 | ECL2 | T => R | missense | 8.243e-06 | 1 | 121322 | 0 | 0.04 | 0.952 | ||
nk1r_human | 153 | 4.48x48 | TM4 | V => D | missense | 8.244e-06 | 1 | 121304 | 0 | 0.06 | 0.634 | |
nk1r_human | 153 | 4.48x48 | TM4 | V => L | missense | 8.244e-06 | 1 | 121294 | 0 | 0.53 | 0.004 | |
nk1r_human | 152 | 4.47x47 | TM4 | C => W | missense | 8.244e-06 | 1 | 121300 | 0 | 0.05 | 0.63 | |
nk1r_human | 152 | 4.47x47 | TM4 | C => S | missense | 8.244e-06 | 1 | 121300 | 0 | 0.18 | 0.021 | |
nk1r_human | 149 | 4.44x44 | TM4 | V => A | missense | 1.65e-05 | 2 | 121248 | 0 | 0.47 | 0.086 | |
nk1r_human | 144 | 4.39x39 | TM4 | A => D | missense | 8.266e-06 | 1 | 120972 | 0 | 0.0 | 0.806 | |
nk1r_human | 141 | ICL2 | R => Q | missense | 8.295e-06 | 1 | 120558 | 0 | 0.0 | 0.975 | ||
nk1r_human | 135 | 3.55x55 | TM3 | I => T | missense | 1.678e-05 | 2 | 119174 | 0 | 0.0 | 0.758 | GP (contact) |
nk1r_human | 127 | 3.47x47 | TM3 | A => T | missense | 8.244e-06 | 1 | 121304 | 0 | 0.03 | 0.988 | |
nk1r_human | 124 | 3.44x44 | TM3 | T => M | missense | 4.119e-05 | 5 | 121378 | 0 | 0.04 | 0.937 | |
nk1r_human | 124 | 3.44x44 | TM3 | T => K | missense | 8.239e-06 | 1 | 121378 | 0 | 0.0 | 0.963 | |
nk1r_human | 120 | 3.40x40 | TM3 | I => V | missense | 8.237e-06 | 1 | 121402 | 0 | 0.04 | 0.897 | SodiumPocket MicroSwitch |
nk1r_human | 118 | 3.38x38 | TM3 | A => S | missense | 8.237e-06 | 1 | 121404 | 0 | 0.09 | 0.695 | |
nk1r_human | 116 | 3.36x36 | TM3 | V => L | missense | 8.237e-06 | 1 | 121406 | 0 | 0.02 | 0.653 | LB (hydrophobic, Van der Waals) |
nk1r_human | 115 | 3.35x35 | TM3 | A => T | missense | 1.647e-05 | 2 | 121406 | 0 | 0.01 | 0.631 | |
nk1r_human | 114 | 3.34x34 | TM3 | A => T | missense | 8.237e-06 | 1 | 121408 | 0 | 1.0 | 0.021 | |
nk1r_human | 113 | 3.33x33 | TM3 | I => M | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.979 | LB (polar (hydrogen bond with backbone), Van der Waals, hydrophobic) |
nk1r_human | 110 | 3.30x30 | TM3 | F => S | missense | 1.647e-05 | 2 | 121410 | 0 | 0.0 | 1.0 | |
nk1r_human | 107 | 3.27x27 | TM3 | F => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.998 | |
nk1r_human | 102 | 3.22x22 | TM3 | L => V | missense | 8.236e-05 | 10 | 121412 | 0 | 0.28 | 0.04 | |
nk1r_human | 101 | 3.21x21 | TM3 | G => D | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.977 | |
nk1r_human | 99 | 23.51x51 | ECL1 | Y => C | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 1.0 | |
nk1r_human | 97 | 23.49x49 | ECL1 | E => Q | missense | 8.236e-06 | 1 | 121412 | 0 | 0.16 | 0.619 | |
nk1r_human | 88 | 2.60x60 | TM2 | V => G | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.977 | |
nk1r_human | 86 | 2.58x58 | TM2 | T => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.28 | 0.368 | |
nk1r_human | 85 | 2.57x57 | TM2 | N => S | missense | 1.647e-05 | 2 | 121412 | 1 | 0.0 | 1.0 | LB (polar (hydrogen bond), Van der Waals) |
nk1r_human | 81 | 2.53x53 | TM2 | M => K | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.987 | |
nk1r_human | 81 | 2.53x53 | TM2 | M => R | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.991 | |
nk1r_human | 80 | 2.52x52 | TM2 | S => T | missense | 1.647e-05 | 2 | 121412 | 0 | 0.05 | 0.953 | |
nk1r_human | 74 | 2.46x46 | TM2 | L => V | missense | 8.237e-06 | 1 | 121402 | 0 | 0.0 | 1.0 | |
nk1r_human | 73 | 2.45x45 | TM2 | N => Y | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 1.0 | |
nk1r_human | 65 | 2.37x37 | TM2 | T => R | missense | 8.24e-06 | 1 | 121358 | 0 | 0.0 | 1.0 | |
nk1r_human | 65 | 2.37x37 | TM2 | T => A | missense | 8.24e-06 | 1 | 121352 | 0 | 0.0 | 1.0 | |
nk1r_human | 59 | 1.59x59 | TM1 | A => T | missense | 8.248e-06 | 1 | 121246 | 0 | 0.0 | 0.999 | |
nk1r_human | 52 | 1.52x52 | TM1 | V => L | missense | 8.256e-06 | 1 | 121122 | 0 | 0.13 | 0.005 | |
nk1r_human | 51 | 1.51x51 | TM1 | V => M | missense | 8.258e-06 | 1 | 121102 | 0 | 0.06 | 0.274 | |
nk1r_human | 49 | 1.49x49 | TM1 | G => S | missense | 1.652e-05 | 2 | 121078 | 0 | 0.0 | 1.0 | |
nk1r_human | 49 | 1.49x49 | TM1 | G => R | missense | 1.652e-05 | 2 | 121078 | 0 | 0.0 | 1.0 | |
nk1r_human | 48 | 1.48x48 | TM1 | V => A | missense | 8.259e-06 | 1 | 121080 | 0 | 0.02 | 0.348 | |
nk1r_human | 47 | 1.47x47 | TM1 | V => L | missense | 8.262e-06 | 1 | 121040 | 0 | 0.04 | 0.047 | |
nk1r_human | 47 | 1.47x47 | TM1 | V => M | missense | 8.262e-06 | 1 | 121040 | 0 | 0.0 | 0.887 | |
nk1r_human | 45 | 1.45x45 | TM1 | T => N | missense | 8.261e-06 | 1 | 121050 | 0 | 0.0 | 0.315 | |
nk1r_human | 43 | 1.43x43 | TM1 | V => A | missense | 8.264e-06 | 1 | 121008 | 0 | 0.0 | 0.959 | |
nk1r_human | 42 | 1.42x42 | TM1 | I => V | missense | 8.264e-06 | 1 | 121010 | 0 | 0.69 | 0.007 | |
nk1r_human | 41 | 1.41x41 | TM1 | V => F | missense | 8.267e-06 | 1 | 120960 | 0 | 0.6 | 0.004 | |
nk1r_human | 40 | 1.40x40 | TM1 | T => R | missense | 8.27e-06 | 1 | 120912 | 0 | 0.29 | 0.132 | |
nk1r_human | 37 | 1.37x37 | TM1 | A => V | missense | 1.655e-05 | 2 | 120876 | 0 | 0.86 | 0.0 | |
nk1r_human | 32 | 1.32x32 | TM1 | I => V | missense | 8.279e-06 | 1 | 120794 | 0 | 0.8 | 0.024 | |
nk1r_human | 14 | N-term | N => D | missense | 8.33e-06 | 1 | 120042 | 0 | 0.22 | 0.004 | ||
nk1r_human | 7 | N-term | V => M | missense | 8.404e-06 | 1 | 118988 | 0 | 0.21 | 0.001 | ||
nk1r_human | 6 | N-term | P => R | missense | 8.421e-06 | 1 | 118748 | 0 | 0.47 | 0.294 | ||
nk1r_human | 5 | N-term | L => R | missense | 2.53e-05 | 3 | 118568 | 0 | 0.03 | 0.049 | ||
nk1r_human | 3 | N-term | N => K | missense | 8.482e-06 | 1 | 117900 | 0 | 0.02 | 0.014 |
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