General Structure Information
| PDB ID | 2wek |
| HGNC Gene Label(s) | ZADH2 |
| Structure Name | crystal structure of the human mgc45594 gene product in complex with diclofenac |
| Resolution | 1.9Å |
| Reference | AUTH N.SHAFQAT,W.W.YUE,F.NIESEN,U.OPPERMANNTITL CRYSTAL STRUCTURE OF THE HUMAN MGC45594 GENE PRODUCT INTITL 2 COMPLEX WITH DICLOFENACREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 339 |
| Number Of SNVs | 107 |
| Number Of Permutations | 45624 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.026 |
| p-value | 0.542 |
COSMIC
| Number Of Residues | 339 |
| Number Of SNVs | 9 |
| Number Of Permutations | 7739 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.25 |
| p-value | 0.45 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 107 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.082 |
| p-value | 0.48 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:72920915 | M>I | A:33 | (-9.75, 12.43, -14.96) | |
| 18:72920917 | M>L | A:33 | (-9.75, 12.43, -14.96) | |
| 18:72920909 | rs200888830 | K>N | A:35 | (-14.72, 10.80, -12.14) |
| 18:72920899 | T>S | A:39 | (-25.84, 10.86, -11.99) | |
| 18:72920869 | V>I | A:49 | (-22.92, 5.29, -11.88) | |
| 18:72920865 | rs201759106 | T>N | A:50 | (-21.86, 8.15, -15.06) |
| 18:72920853 | D>G | A:54 | (-13.16, 14.92, -20.59) | |
| 18:72920854 | D>N | A:54 | (-13.16, 14.92, -20.59) | |
| 18:72920839 | L>V | A:59 | (-5.09, 20.53, -8.00) | |
| 18:72914291 | V>F | A:72 | (-9.88, 0.28, -6.78) | |
| 18:72914266 | N>S | A:80 | (-26.06, 1.25, 0.06) | |
| 18:72914264 | Y>D | A:81 | (-22.13, 6.54, -1.25) | |
| 18:72914260 | S>L | A:82 | (-25.70, 4.79, -5.17) | |
| 18:72914254 | G>D | A:84 | (-28.31, 7.64, -0.64) | |
| 18:72914251 | rs201322474 | R>H | A:85 | (-29.45, 3.57, 0.92) |
| 18:72914252 | R>C | A:85 | (-29.45, 3.57, 0.92) | |
| 18:72914244 | rs549288714 | D>E | A:87 | (-26.53, 12.00, 3.64) |
| 18:72914231 | P>A | A:92 | (-26.98, 13.97, -7.17) | |
| 18:72914220 | D>E | A:95 | (-17.37, 11.47, -6.04) | |
| 18:72914222 | D>H | A:95 | (-17.37, 11.47, -6.04) | |
| 18:72914218 | I>T | A:96 | (-18.25, 6.47, -5.97) | |
| 18:72914215 | G>A | A:97 | (-15.42, 5.10, -3.63) | |
| 18:72914210 | COSM3422333 | E>K | A:99 | (-10.94, 1.05, -0.96) |
| 18:72914206 | G>D | A:100 | (-7.03, 2.99, -2.40) | |
| 18:72914203 | rs149346224 | I>T | A:101 | (-3.37, 1.36, -3.63) |
| 18:72914173 | A>D | A:111 | (2.55, 16.80, 2.93) | |
| 18:72914168 | A>P | A:113 | (7.06, 16.25, 5.60) | |
| 18:72914164 | R>T | A:114 | (5.08, 12.88, 6.25) | |
| 18:72914161 | rs192483864 | Y>C | A:115 | (3.45, 11.30, 2.99) |
| 18:72914150 | Q>K | A:119 | (5.24, 7.36, -1.01) | |
| 18:72914134 | M>T | A:124 | (-10.70, 4.83, 4.13) | |
| 18:72914135 | M>V | A:124 | (-10.70, 4.83, 4.13) | |
| 18:72914125 | G>A | A:127 | (-13.28, 8.70, -4.63) | |
| 18:72914123 | S>T | A:128 | (-11.59, 5.65, -5.38) | |
| 18:72914116 | rs375371109 | A>V | A:130 | (-10.57, 7.70, -10.09) |
| 18:72914108 | rs139183679 | T>A | A:133 | (-7.91, 10.78, -5.61) |
| 18:72914102 | V>L | A:135 | (-5.93, 12.04, -0.13) | |
| 18:72914099 | P>S | A:136 | (-6.20, 13.96, 3.10) | |
| 18:72914081 | P>S | A:142 | (1.89, 4.31, 4.85) | |
| 18:72914078 | V>M | A:143 | (2.22, 1.09, 1.74) | |
| 18:72914074 | P>H | A:144 | (5.16, -1.43, 1.38) | |
| 18:72914075 | rs183121530 | P>A | A:144 | (5.16, -1.43, 1.38) |
| 18:72914056 | Y>C | A:150 | (-0.24, -4.34, 0.95) | |
| 18:72914035 | G>A | A:157 | (-9.95, -5.83, 7.76) | |
| 18:72914027 | A>T | A:160 | (-12.89, -7.68, 11.16) | |
| 18:72914023 | Y>C | A:161 | (-8.36, -6.12, 14.42) | |
| 18:72914009 | rs143887594 | E>K | A:166 | (-13.59, -3.50, 20.47) |
| 18:72914003 | rs138835821 | G>R | A:168 | (-16.47, -10.52, 20.69) |
| 18:72913973 | V>M | A:178 | (-18.32, -16.43, 9.48) | |
| 18:72913954 | G>E | A:184 | (-13.47, -9.91, 2.09) | |
| 18:72913951 | rs543338454 | T>M | A:185 | (-14.69, -9.13, 5.63) |
| 18:72913948 | G>V | A:186 | (-14.46, -12.93, 5.99) | |
| 18:72913936 | M>T | A:190 | (-12.21, -17.22, 9.46) | |
| 18:72913937 | M>L | A:190 | (-12.21, -17.22, 9.46) | |
| 18:72913928 | rs145920242 | S>T | A:193 | (-11.17, -16.04, 14.94) |
| 18:72913908 | H>Q | A:199 | (-14.68, -24.24, 16.31) | |
| 18:72913909 | H>R | A:199 | (-14.68, -24.24, 16.31) | |
| 18:72913903 | rs377320636 | I>T | A:201 | (-18.56, -22.14, 11.64) |
| 18:72913904 | I>V | A:201 | (-18.56, -22.14, 11.64) | |
| 18:72913893 | C>W | A:204 | (-20.13, -20.72, 1.30) | |
| 18:72913892 | S>P | A:205 | (-21.81, -20.47, -2.53) | |
| 18:72913885 | rs143468645 | D>A | A:207 | (-17.62, -26.93, -3.26) |
| 18:72913876 | S>C | A:210 | (-15.40, -24.54, 0.95) | |
| 18:72913869 | F>L | A:212 | (-10.39, -19.74, 0.61) | |
| 18:72913856 | rs372887963 | G>S | A:217 | (-8.80, -23.15, 9.06) |
| 18:72913846 | rs374281240 | R>H | A:220 | (-18.52, -27.47, 9.01) |
| 18:72913843 | P>R | A:221 | (-16.63, -25.69, 6.00) | |
| 18:72913837 | N>S | A:223 | (-22.22, -25.11, 0.33) | |
| 18:72913835 | Y>D | A:224 | (-25.49, -21.01, 1.09) | |
| 18:72913823 | P>S | A:228 | (-28.71, -27.80, 5.47) | |
| 18:72913819 | rs191356988 | V>A | A:229 | (-26.95, -23.96, 7.74) |
| 18:72913817 | G>R | A:230 | (-29.52, -25.42, 10.44) | |
| 18:72913813 | T>I | A:231 | (-29.55, -29.07, 10.13) | |
| 18:72913811 | rs375474141 | V>I | A:232 | (-25.21, -28.23, 10.36) |
| 18:72913807 | L>P | A:233 | (-25.77, -25.08, 13.24) | |
| 18:72913805 | K>Q | A:234 | (-28.84, -28.23, 15.27) | |
| 18:72913793 | rs186808681 | P>A | A:238 | (-26.02, -28.56, 20.11) |
| 18:72913778 | V>M | A:243 | (-19.67, -15.18, 17.98) | |
| 18:72913771 | rs146651397 | Y>C | A:245 | (-18.42, -11.14, 10.91) |
| 18:72913769 | rs143280793 | E>K | A:246 | (-24.55, -11.67, 9.76) |
| 18:72913736 | V>I | A:257 | (-30.87, -15.84, 16.33) | |
| 18:72913730 | A>T | A:259 | (-27.63, -20.63, 16.93) | |
| 18:72913720 | T>M | A:262 | (-26.10, -19.08, 26.66) | |
| 18:72913711 | R>H | A:265 | (-21.28, -11.56, 22.09) | |
| 18:72913712 | COSM267783 | R>C | A:265 | (-21.28, -11.56, 22.09) |
| 18:72913697 | G>R | A:270 | (-24.65, -6.91, 7.60) | |
| 18:72913687 | S>F | A:273 | (-29.80, -9.84, 1.15) | |
| 18:72913673 | rs373349846 | P>S | A:278 | (-36.17, -0.74, -2.84) |
| 18:72913664 | L>V | A:281 | (-34.20, -3.48, 4.25) | |
| 18:72913660 | rs534224169 COSM3527623 |
S>L | A:282 | (-33.60, -8.26, 4.39) |
| 18:72913642 | rs141337829 | T>I | A:288 | (-39.87, -13.58, 18.27) |
| 18:72913636 | rs146612975 | P>Q | A:290 | (-37.21, -9.87, 21.79) |
| 18:72913625 | L>V | A:294 | (-34.86, -12.86, 27.68) | |
| 18:72913621 | K>R | A:295 | (-34.25, -17.11, 26.80) | |
| 18:72913607 | rs368098178 COSM564435 |
V>I | A:300 | (-28.14, -8.10, 18.41) |
| 18:72913603 | rs531795362 | Q>R | A:301 | (-23.74, -5.20, 18.63) |
| 18:72913564 | A>V | A:314 | (-3.83, -0.09, 15.13) | |
| 18:72913555 | rs145432876 | S>N | A:317 | (-0.34, -1.86, 12.04) |
| 18:72913548 | L>F | A:319 | (-3.89, -6.17, 9.52) | |
| 18:72913540 | M>T | A:322 | (-0.34, -10.16, 10.07) | |
| 18:72913537 | rs17056661 | C>F | A:323 | (0.49, -9.21, 5.15) |
| 18:72913529 | rs142296321 | G>R | A:326 | (2.61, -14.34, 5.99) |
| 18:72913519 | V>G | A:329 | (-4.53, -15.02, 3.62) | |
| 18:72913516 | rs376121612 | C>Y | A:330 | (-4.63, -11.26, 1.58) |
| 18:72913513 | E>G | A:331 | (-7.40, -13.98, -1.78) | |
| 18:72913504 | L>H | A:334 | (-8.29, -8.78, -10.05) | |
| 18:72913472 | G>R | A:345 | (-10.82, -0.32, -15.35) | |
| 18:72913466 | E>K | A:347 | (-15.35, 0.13, -17.20) | |
| 18:72913458 | I>M | A:349 | (-16.20, -0.85, -11.41) | |
| 18:72913457 | F>V | A:350 | (-20.18, -0.38, -14.01) | |
| 18:72913454 | R>C | A:351 | (-17.12, -6.53, -15.38) | |
| 18:72913445 | N>D | A:354 | (-22.78, -7.28, -11.45) | |
| 18:72913438 | M>R | A:356 | (-20.26, -8.72, -5.06) | |
| 18:72913433 | M>V | A:358 | (-24.14, -12.91, -9.30) | |
| 18:72913426 | K>R | A:360 | (-19.05, -15.40, -8.18) | |
| 18:72913406 | COSM3970626 | V>L | A:367 | (-10.40, -2.66, -9.94) |
| 18:72913394 | H>Y | A:371 | (-0.40, 3.16, -14.07) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 18:72914210 | COSM3422333 | E>K | A:99 | (-10.94, 1.05, -0.96) |
| 18:72914155 | COSM1680426 | V>D | A:117 | (6.78, 12.28, -5.35) |
| 18:72914018 | COSM1611414 | S>G | A:163 | (-15.54, -6.01, 15.14) |
| 18:72913927 | COSM1750583 | S>L | A:193 | (-11.17, -16.04, 14.94) |
| 18:72913847 | COSM989922 | R>C | A:220 | (-18.52, -27.47, 9.01) |
| 18:72913712 | COSM267783 | R>C | A:265 | (-21.28, -11.56, 22.09) |
| 18:72913700 | COSM3718003 | I>V | A:269 | (-21.04, -6.58, 9.94) |
| 18:72913615 | COSM1389748 | S>F | A:297 | (-28.80, -13.94, 27.85) |
| 18:72913505 | COSM3692188 | L>I | A:334 | (-8.29, -8.78, -10.05) |