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 |
mtr1b_human | 30 | N-term | P => LeufsTer46 | frameshift | 1.181e-05 | 1 | 84690 | 0 | None | None | ||
mtr1b_human | 13 | N-term | A => Ter | stop gained | 1.156e-05 | 1 | 86524 | 0 | None | None | ||
mtr1b_human | 106 | 23.50x50 | ECL1 | W => Ter | stop gained | 8.237e-06 | 1 | 121410 | 0 | None | None | |
mtr1b_human | 110 | 3.22x22 | TM3 | E => Ter | stop gained | 8.237e-06 | 1 | 121408 | 0 | None | None | |
mtr1b_human | 356 | C-term | Q => Ter | stop gained | 8.454e-06 | 1 | 118284 | 0 | None | None | ||
mtr1b_human | 108 | 23.52x52 | ECL1 | L => ProfsTer8 | frameshift | 0.001327 | 14 | 10548 | 0 | None | None | |
mtr1b_human | 3 | N-term | E => G | missense | 1.461e-05 | 1 | 68448 | 0 | nan | 0.007 | ||
mtr1b_human | 5 | N-term | G => S | missense | 4.281e-05 | 3 | 70070 | 0 | nan | 0.02 | ||
mtr1b_human | 7 | N-term | F => I | missense | 1.398e-05 | 1 | 71514 | 0 | nan | 0.012 | ||
mtr1b_human | 11 | N-term | C => Y | missense | 2.663e-05 | 2 | 75114 | 0 | 0.0 | 0.971 | ||
mtr1b_human | 13 | N-term | A => S | missense | 1.317e-05 | 1 | 75922 | 0 | 0.18 | 0.015 | ||
mtr1b_human | 13 | N-term | A => V | missense | 0.003112 | 237 | 76146 | 2 | 0.21 | 0.003 | ||
mtr1b_human | 13 | N-term | A => E | missense | 3.94e-05 | 3 | 76146 | 0 | 0.11 | 0.257 | ||
mtr1b_human | 14 | N-term | G => D | missense | 1.301e-05 | 1 | 76874 | 0 | 0.12 | 0.039 | ||
mtr1b_human | 15 | N-term | G => R | missense | 1.291e-05 | 1 | 77434 | 0 | 0.05 | 0.066 | ||
mtr1b_human | 15 | N-term | G => W | missense | 1.291e-05 | 1 | 77434 | 0 | 0.0 | 0.991 | ||
mtr1b_human | 24 | N-term | G => E | missense | 0.08563 | 7125 | 83204 | 293 | 0.17 | 0.009 | ||
mtr1b_human | 28 | N-term | A => V | missense | 7.171e-05 | 6 | 83668 | 0 | 0.12 | 0.006 | ||
mtr1b_human | 33 | N-term | T => I | missense | 1.135e-05 | 1 | 88116 | 0 | 0.15 | 0.003 | ||
mtr1b_human | 52 | 1.44x44 | TM1 | A => V | missense | 3.707e-05 | 4 | 107894 | 0 | 1.0 | 0.067 | |
mtr1b_human | 54 | 1.46x46 | TM1 | D => V | missense | 9.188e-06 | 1 | 108842 | 0 | 0.0 | 1.0 | |
mtr1b_human | 60 | 1.52x52 | TM1 | L => R | missense | 0.0003826 | 42 | 109762 | 0 | 0.0 | 0.995 | |
mtr1b_human | 60 | 1.52x52 | TM1 | L => Q | missense | 4.555e-05 | 5 | 109762 | 0 | 0.01 | 0.995 | |
mtr1b_human | 64 | 1.56x56 | TM1 | S => Y | missense | 9.171e-06 | 1 | 109038 | 0 | 0.0 | 0.997 | |
mtr1b_human | 65 | 1.57x57 | TM1 | V => A | missense | 0.0002857 | 31 | 108488 | 0 | 0.0 | 0.997 | |
mtr1b_human | 71 | 12.50x50 | ICL1 | L => H | missense | 9.792e-06 | 1 | 102124 | 0 | 0.0 | 1.0 | |
mtr1b_human | 80 | 2.44x44 | TM2 | V => L | missense | 1.669e-05 | 2 | 119866 | 0 | 0.01 | 0.609 | |
mtr1b_human | 85 | 2.49x49 | TM2 | A => V | missense | 8.272e-06 | 1 | 120894 | 0 | 0.0 | 0.999 | |
mtr1b_human | 86 | 2.50x50 | TM2 | D => H | missense | 1.652e-05 | 2 | 121030 | 0 | 0.0 | 0.999 | |
mtr1b_human | 91 | 2.55x55 | TM2 | F => L | missense | 8.245e-06 | 1 | 121284 | 0 | 1.0 | 0.001 | |
mtr1b_human | 92 | 2.56x551 | TM2 | Y => D | missense | 8.243e-06 | 1 | 121316 | 0 | 0.0 | 0.908 | |
mtr1b_human | 95 | 2.59x58 | TM2 | P => L | missense | 4.12e-05 | 5 | 121372 | 0 | 0.04 | 0.998 | |
mtr1b_human | 98 | 2.62x61 | TM2 | L => P | missense | 8.238e-06 | 1 | 121396 | 0 | 0.03 | 0.874 | |
mtr1b_human | 99 | 2.63x62 | TM2 | V => M | missense | 2.471e-05 | 3 | 121402 | 0 | 0.26 | 0.046 | |
mtr1b_human | 103 | 2.67x66 | TM2 | Y => H | missense | 8.237e-06 | 1 | 121410 | 0 | 1.0 | 0.001 | |
mtr1b_human | 105 | 23.49x49 | ECL1 | G => S | missense | 2.471e-05 | 3 | 121410 | 0 | 0.03 | 0.382 | |
mtr1b_human | 105 | 23.49x49 | ECL1 | G => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.09 | 0.25 | |
mtr1b_human | 107 | 23.51x51 | ECL1 | A => T | missense | 8.237e-06 | 1 | 121410 | 0 | 0.74 | 0.023 | |
mtr1b_human | 109 | 3.21x21 | TM3 | G => E | missense | 8.237e-06 | 1 | 121408 | 0 | 0.01 | 0.949 | |
mtr1b_human | 111 | 3.23x23 | TM3 | E => G | missense | 8.237e-06 | 1 | 121408 | 0 | 0.07 | 0.0 | |
mtr1b_human | 117 | 3.29x29 | TM3 | A => T | missense | 2.471e-05 | 3 | 121412 | 0 | 0.05 | 0.053 | |
mtr1b_human | 118 | 3.30x30 | TM3 | F => L | missense | 1.647e-05 | 2 | 121412 | 0 | 0.11 | 0.521 | |
mtr1b_human | 118 | 3.30x30 | TM3 | F => S | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.988 | |
mtr1b_human | 120 | 3.32x32 | TM3 | M => I | missense | 5.766e-05 | 7 | 121408 | 0 | 0.05 | 0.082 | LB (hydrophobic) |
mtr1b_human | 123 | 3.35x35 | TM3 | S => G | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.718 | |
mtr1b_human | 124 | 3.36x36 | TM3 | V => I | missense | 0.0008072 | 98 | 121412 | 0 | 0.03 | 0.921 | LB (hydrophobic) |
mtr1b_human | 126 | 3.38x38 | TM3 | G => S | missense | 1.647e-05 | 2 | 121410 | 0 | 0.07 | 0.455 | |
mtr1b_human | 126 | 3.38x38 | TM3 | G => D | missense | 8.237e-06 | 1 | 121410 | 0 | 0.02 | 0.529 | |
mtr1b_human | 130 | 3.42x42 | TM3 | N => S | missense | 0.0001647 | 20 | 121406 | 0 | 0.05 | 0.458 | |
mtr1b_human | 135 | 3.47x47 | TM3 | A => T | missense | 1.647e-05 | 2 | 121402 | 0 | 0.01 | 0.573 | |
mtr1b_human | 138 | 3.50x50 | TM3 | R => C | missense | 0.001087 | 132 | 121398 | 0 | 0.07 | 0.672 | SodiumPocket MicroSwitch GP (contact) |
mtr1b_human | 138 | 3.50x50 | TM3 | R => H | missense | 4.118e-05 | 5 | 121404 | 0 | 0.03 | 0.825 | SodiumPocket MicroSwitch GP (contact) |
mtr1b_human | 140 | 3.52x52 | TM3 | C => F | missense | 8.237e-06 | 1 | 121398 | 0 | 0.02 | 0.461 | |
mtr1b_human | 141 | 3.53x53 | TM3 | Y => H | missense | 8.237e-06 | 1 | 121400 | 0 | 0.0 | 0.93 | GP (contact) |
mtr1b_human | 141 | 3.53x53 | TM3 | Y => C | missense | 1.647e-05 | 2 | 121402 | 0 | 0.1 | 0.073 | GP (contact) |
mtr1b_human | 142 | 3.54x54 | TM3 | I => F | missense | 8.237e-06 | 1 | 121404 | 0 | 0.0 | 0.99 | GP (contact) |
mtr1b_human | 142 | 3.54x54 | TM3 | I => V | missense | 8.237e-06 | 1 | 121404 | 0 | 0.1 | 0.533 | GP (contact) |
mtr1b_human | 142 | 3.54x54 | TM3 | I => M | missense | 8.237e-06 | 1 | 121402 | 0 | 0.01 | 0.954 | GP (contact) |
mtr1b_human | 150 | 34.55x55 | ICL2 | R => Q | missense | 2.471e-05 | 3 | 121404 | 0 | 0.1 | 0.087 | GP (contact) |
mtr1b_human | 153 | 4.38x38 | TM4 | R => W | missense | 4.118e-05 | 5 | 121406 | 0 | 0.07 | 0.009 | |
mtr1b_human | 153 | 4.38x38 | TM4 | R => Q | missense | 8.237e-06 | 1 | 121404 | 0 | 0.06 | 0.009 | |
mtr1b_human | 154 | 4.39x39 | TM4 | R => C | missense | 5.766e-05 | 7 | 121398 | 0 | 0.18 | 0.009 | |
mtr1b_human | 154 | 4.39x39 | TM4 | R => H | missense | 8.237e-06 | 1 | 121398 | 0 | 0.59 | 0.005 | |
mtr1b_human | 157 | 4.42x42 | TM4 | T => A | missense | 8.238e-06 | 1 | 121388 | 0 | 0.17 | 0.042 | |
mtr1b_human | 160 | 4.45x45 | TM4 | H => R | missense | 8.237e-06 | 1 | 121400 | 0 | 0.03 | 0.009 | |
mtr1b_human | 165 | 4.50x50 | TM4 | W => C | missense | 1.648e-05 | 2 | 121388 | 0 | 0.01 | 0.982 | |
mtr1b_human | 166 | 4.51x51 | TM4 | L => I | missense | 0.0001071 | 13 | 121394 | 0 | 0.39 | 0.119 | |
mtr1b_human | 167 | 4.52x52 | TM4 | L => F | missense | 8.238e-06 | 1 | 121394 | 0 | 0.04 | 0.656 | |
mtr1b_human | 169 | 4.54x54 | TM4 | V => M | missense | 4.119e-05 | 5 | 121382 | 0 | 0.05 | 0.426 | |
mtr1b_human | 170 | 4.55x55 | TM4 | V => M | missense | 0.0006508 | 79 | 121388 | 3 | 0.02 | 0.597 | |
mtr1b_human | 175 | 4.60x61 | TM4 | N => S | missense | 1.648e-05 | 2 | 121390 | 0 | 0.04 | 0.461 | LB (polar (hydrogen bond), Van der Waals) |
mtr1b_human | 175 | 4.60x61 | TM4 | N => K | missense | 8.238e-06 | 1 | 121386 | 0 | 0.0 | 0.934 | LB (polar (hydrogen bond), Van der Waals) |
mtr1b_human | 176 | 4.61x62 | TM4 | F => L | missense | 8.238e-06 | 1 | 121384 | 0 | 0.51 | 0.023 | |
mtr1b_human | 178 | 4.63x64 | TM4 | V => G | missense | 1.648e-05 | 2 | 121380 | 0 | 0.06 | 0.673 | |
mtr1b_human | 182 | ECL2 | E => D | missense | 0.0001236 | 15 | 121376 | 0 | 0.07 | 0.033 | ||
mtr1b_human | 184 | ECL2 | D => E | missense | 8.239e-06 | 1 | 121376 | 0 | 0.0 | 0.995 | ||
mtr1b_human | 188 | ECL2 | Y => C | missense | 1.648e-05 | 2 | 121378 | 0 | 0.01 | 0.634 | ||
mtr1b_human | 189 | ECL2 | S => F | missense | 8.239e-06 | 1 | 121374 | 0 | 0.01 | 0.992 | ||
mtr1b_human | 192 | 45.52x52 | ECL2 | F => S | missense | 1.648e-05 | 2 | 121372 | 0 | 0.0 | 0.955 | LB (hydrophobic, Van der Waals) |
mtr1b_human | 196 | ECL2 | A => T | missense | 1.648e-05 | 2 | 121358 | 0 | 0.54 | 0.052 | ||
mtr1b_human | 198 | 5.36x37 | TM5 | T => N | missense | 0.0004614 | 56 | 121368 | 1 | 0.02 | 0.281 | |
mtr1b_human | 200 | 5.38x39 | TM5 | Y => D | missense | 2.472e-05 | 3 | 121368 | 0 | 0.01 | 0.928 | LB (Van der Waals) |
mtr1b_human | 201 | 5.39x40 | TM5 | T => M | missense | 8.24e-06 | 1 | 121354 | 0 | 0.0 | 0.939 | |
mtr1b_human | 202 | 5.40x41 | TM5 | A => V | missense | 1.648e-05 | 2 | 121352 | 0 | 0.69 | 0.004 | |
mtr1b_human | 203 | 5.41x42 | TM5 | A => T | missense | 0.0001483 | 18 | 121354 | 0 | 0.52 | 0.192 | |
mtr1b_human | 208 | 5.46x461 | TM5 | H => N | missense | 8.241e-06 | 1 | 121338 | 0 | 0.0 | 0.955 | |
mtr1b_human | 214 | 5.52x52 | TM5 | A => S | missense | 8.244e-06 | 1 | 121306 | 0 | 0.57 | 0.062 | |
mtr1b_human | 214 | 5.52x52 | TM5 | A => T | missense | 8.244e-06 | 1 | 121306 | 0 | 0.97 | 0.021 | |
mtr1b_human | 215 | 5.53x53 | TM5 | V => F | missense | 8.243e-06 | 1 | 121322 | 0 | 0.0 | 0.905 | |
mtr1b_human | 216 | 5.54x54 | TM5 | V => M | missense | 3.297e-05 | 4 | 121312 | 0 | 0.02 | 0.647 | |
mtr1b_human | 222 | 5.60x60 | TM5 | R => C | missense | 4.944e-05 | 6 | 121352 | 0 | 0.12 | 0.262 | |
mtr1b_human | 222 | 5.60x60 | TM5 | R => H | missense | 8.24e-06 | 1 | 121354 | 0 | 0.03 | 0.431 | |
mtr1b_human | 231 | 5.69x69 | TM5 | R => C | missense | 2.472e-05 | 3 | 121358 | 0 | 0.04 | 0.4 | GP (contact) |
mtr1b_human | 231 | 5.69x69 | TM5 | R => H | missense | 0.003848 | 467 | 121354 | 1 | 0.05 | 0.104 | GP (contact) |
mtr1b_human | 233 | 5.71x71 | TM5 | K => T | missense | 8.239e-06 | 1 | 121372 | 0 | 0.01 | 0.314 | GP (contact) |
mtr1b_human | 234 | 5.72x72 | TM5 | A => T | missense | 0.0002884 | 35 | 121372 | 0 | 0.03 | 0.297 | GP (contact) |
mtr1b_human | 234 | 5.72x72 | TM5 | A => D | missense | 8.239e-06 | 1 | 121368 | 0 | 0.0 | 0.653 | GP (contact) |
mtr1b_human | 235 | ICL3 | K => Q | missense | 4.943e-05 | 6 | 121380 | 0 | 0.0 | 0.905 | ||
mtr1b_human | 235 | ICL3 | K => R | missense | 1.648e-05 | 2 | 121376 | 0 | 0.23 | 0.12 | ||
mtr1b_human | 240 | 6.24x24 | TM6 | L => R | missense | 1.648e-05 | 2 | 121392 | 0 | 0.4 | 0.051 | |
mtr1b_human | 241 | 6.25x25 | TM6 | C => S | missense | 8.238e-06 | 1 | 121392 | 0 | 0.05 | 0.012 | GP (contact) |
mtr1b_human | 243 | 6.27x27 | TM6 | K => R | missense | 0.04214 | 5116 | 121392 | 324 | 0.59 | 0.012 | |
mtr1b_human | 245 | 6.29x29 | TM6 | S => N | missense | 8.237e-06 | 1 | 121400 | 0 | 0.09 | 0.081 | GP (contact) |
mtr1b_human | 248 | 6.32x32 | TM6 | R => Q | missense | 1.647e-05 | 2 | 121410 | 0 | 0.1 | 0.581 | GP (contact) |
mtr1b_human | 253 | 6.37x37 | TM6 | M => T | missense | 1.647e-05 | 2 | 121412 | 0 | 0.08 | 0.461 | GP (contact) |
mtr1b_human | 256 | 6.40x40 | TM6 | V => A | missense | 8.236e-06 | 1 | 121412 | 0 | 0.02 | 0.987 | GP (contact) |
mtr1b_human | 262 | 6.46x46 | TM6 | I => F | missense | 8.237e-06 | 1 | 121410 | 0 | 0.19 | 0.031 | |
mtr1b_human | 265 | 6.49x49 | TM6 | A => V | missense | 4.942e-05 | 6 | 121410 | 0 | 0.0 | 0.965 | |
mtr1b_human | 266 | 6.50x50 | TM6 | P => L | missense | 8.236e-06 | 1 | 121412 | 0 | 0.05 | 0.965 | SodiumPocket MicroSwitch |
mtr1b_human | 270 | 6.54x54 | TM6 | I => V | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.966 | |
mtr1b_human | 271 | 6.55x55 | TM6 | G => S | missense | 1.647e-05 | 2 | 121412 | 0 | 0.01 | 0.958 | |
mtr1b_human | 273 | 6.57x57 | TM6 | A => T | missense | 2.471e-05 | 3 | 121412 | 0 | 0.07 | 0.159 | |
mtr1b_human | 273 | 6.57x57 | TM6 | A => S | missense | 8.236e-06 | 1 | 121412 | 0 | 0.0 | 0.863 | |
mtr1b_human | 275 | 6.59x59 | TM6 | A => V | missense | 2.471e-05 | 3 | 121412 | 0 | 0.02 | 0.517 | |
mtr1b_human | 278 | ECL3 | P => A | missense | 3.295e-05 | 4 | 121410 | 0 | 0.0 | 0.991 | ||
mtr1b_human | 284 | ECL3 | Q => E | missense | 8.236e-06 | 1 | 121412 | 0 | 0.11 | 0.232 | ||
mtr1b_human | 285 | ECL3 | I => L | missense | 8.237e-06 | 1 | 121410 | 0 | 0.02 | 0.053 | ||
mtr1b_human | 286 | 7.31x30 | TM7 | P => T | missense | 1.647e-05 | 2 | 121410 | 0 | 0.01 | 0.831 | |
mtr1b_human | 293 | 7.38x37 | TM7 | S => T | missense | 8.237e-06 | 1 | 121408 | 0 | 0.0 | 0.897 | |
mtr1b_human | 304 | 7.49x49 | TM7 | N => S | missense | 1.648e-05 | 2 | 121392 | 0 | 0.03 | 0.912 | SodiumPocket MicroSwitch |
mtr1b_human | 306 | 7.51x51 | TM7 | I => V | missense | 2.471e-05 | 3 | 121392 | 0 | 0.83 | 0.086 | |
mtr1b_human | 308 | 7.53x53 | TM7 | Y => C | missense | 8.239e-06 | 1 | 121378 | 0 | 0.02 | 0.999 | SodiumPocket MicroSwitch |
mtr1b_human | 309 | 7.54x54 | TM7 | G => E | missense | 8.239e-06 | 1 | 121372 | 0 | 0.0 | 0.991 | |
mtr1b_human | 310 | 7.55x55 | TM7 | L => F | missense | 2.472e-05 | 3 | 121362 | 0 | 0.06 | 0.016 | GP (contact) |
mtr1b_human | 310 | 7.55x55 | TM7 | L => I | missense | 8.24e-06 | 1 | 121362 | 0 | 0.11 | 0.175 | GP (contact) |
mtr1b_human | 313 | 8.48x48 | H8 | Q => E | missense | 3.297e-05 | 4 | 121316 | 0 | 0.26 | 0.103 | GP (contact) |
mtr1b_human | 313 | 8.48x48 | H8 | Q => R | missense | 4.946e-05 | 6 | 121320 | 0 | 0.16 | 0.005 | GP (contact) |
mtr1b_human | 315 | 8.50x50 | H8 | F => L | missense | 8.244e-06 | 1 | 121304 | 0 | 0.0 | 0.927 | |
mtr1b_human | 316 | 8.51x51 | H8 | R => C | missense | 6.595e-05 | 8 | 121298 | 0 | 0.04 | 0.337 | GP (contact) |
mtr1b_human | 316 | 8.51x51 | H8 | R => L | missense | 1.649e-05 | 2 | 121292 | 0 | 0.03 | 0.278 | GP (contact) |
mtr1b_human | 316 | 8.51x51 | H8 | R => H | missense | 8.245e-06 | 1 | 121292 | 0 | 0.03 | 0.337 | GP (contact) |
mtr1b_human | 322 | 8.57x57 | H8 | I => T | missense | 8.248e-06 | 1 | 121238 | 0 | 0.03 | 0.347 | |
mtr1b_human | 325 | 8.60x60 | H8 | A => V | missense | 0.0003466 | 42 | 121188 | 0 | 0.05 | 0.006 | |
mtr1b_human | 330 | C-term | R => W | missense | 1.651e-05 | 2 | 121114 | 0 | 0.2 | 0.022 | ||
mtr1b_human | 330 | C-term | R => G | missense | 8.257e-06 | 1 | 121114 | 0 | 0.23 | 0.01 | ||
mtr1b_human | 330 | C-term | R => Q | missense | 0.0007927 | 96 | 121100 | 1 | 0.16 | 0.024 | ||
mtr1b_human | 332 | C-term | C => Y | missense | 1.652e-05 | 2 | 121062 | 0 | 0.26 | 0.194 | ||
mtr1b_human | 336 | C-term | A => T | missense | 1.655e-05 | 2 | 120868 | 0 | 0.72 | 0.002 | ||
mtr1b_human | 336 | C-term | A => V | missense | 8.273e-06 | 1 | 120868 | 0 | 0.26 | 0.003 | ||
mtr1b_human | 338 | C-term | K => N | missense | 8.286e-06 | 1 | 120688 | 0 | 0.35 | 0.019 | ||
mtr1b_human | 339 | C-term | G => S | missense | 0.0004309 | 52 | 120690 | 0 | 0.18 | 0.015 | ||
mtr1b_human | 339 | C-term | G => V | missense | 8.295e-06 | 1 | 120558 | 0 | 0.03 | 0.288 | ||
mtr1b_human | 340 | C-term | S => N | missense | 1.66e-05 | 2 | 120516 | 0 | 0.14 | 0.015 | ||
mtr1b_human | 341 | C-term | H => R | missense | 8.298e-06 | 1 | 120506 | 0 | 0.58 | 0.0 | ||
mtr1b_human | 342 | C-term | A => P | missense | 8.3e-06 | 1 | 120476 | 0 | 0.09 | 0.266 | ||
mtr1b_human | 342 | C-term | A => V | missense | 0.0001245 | 15 | 120440 | 0 | 0.23 | 0.004 | ||
mtr1b_human | 342 | C-term | A => E | missense | 1.661e-05 | 2 | 120440 | 0 | 0.42 | 0.002 | ||
mtr1b_human | 353 | C-term | I => T | missense | 0.0004777 | 57 | 119320 | 0 | 0.48 | 0.0 | ||
mtr1b_human | 362 | C-term | L => F | missense | 8.64e-06 | 1 | 115740 | 0 | nan | 0.558 |
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