General Structure Information
| PDB ID | 3cos |
| HGNC Gene Label(s) | ADH4 |
| Structure Name | crystal structure of human class ii alcohol dehydrogenase (adh4) in complex with nad and zn |
| Resolution | 2.1Å |
| Reference | AUTH K.L.KAVANAGH,N.SHAFQAT,W.YUE,F.VON DELFT,S.BISHOP,A.ROOS,AUTH 2 J.MURRAY,A.M.EDWARDS,C.H.ARROWSMITH,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN CLASS II ALCOHOL DEHYDROGENASETITL 2 (ADH4) IN COMPLEX WITH NAD AND ZN.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 380 |
| Number Of SNVs | 106 |
| Number Of Permutations | 20090 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.046 |
| p-value | 0.793 |
COSMIC
| Number Of Residues | 380 |
| Number Of SNVs | 4 |
| Number Of Permutations | 133 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.167 |
| p-value | 0.306 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 106 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.445 |
| p-value | 0.879 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:100064384 | V>A | D:3 | (-12.66, 69.86, 131.29) | |
| 4:100063925 | rs200097356 | K>E | D:9 | (-15.87, 62.78, 124.49) |
| 4:100063922 | rs147320170 | C>R | D:10 | (-16.21, 66.17, 120.52) |
| 4:100063915 | rs554095249 | A>V | D:12 | (-15.80, 66.56, 114.21) |
| 4:100063904 | W>R | D:16 | (-11.63, 59.58, 107.87) | |
| 4:100063899 | rs144133191 | E>D | D:17 | (-10.18, 59.76, 101.46) |
| 4:100063901 | rs202167714 | E>K | D:17 | (-10.18, 59.76, 101.46) |
| 4:100063898 | A>T | D:18 | (-9.02, 62.86, 99.12) | |
| 4:100063886 | L>F | D:22 | (-16.21, 66.36, 105.38) | |
| 4:100063882 | C>F | D:23 | (-17.32, 62.84, 108.08) | |
| 4:100063868 | E>K | D:28 | (-10.49, 62.92, 121.22) | |
| 4:100063845 | H>Q | D:35 | (4.03, 77.37, 125.62) | |
| 4:100063846 | rs529562727 | H>P | D:35 | (4.03, 77.37, 125.62) |
| 4:100063835 | I>L | D:39 | (-10.13, 76.88, 121.74) | |
| 4:100062832 | rs370952138 | I>N | D:41 | (-14.96, 76.57, 118.35) |
| 4:100062830 | I>V | D:42 | (-18.74, 79.32, 119.53) | |
| 4:100062826 | COSM585003 | A>V | D:43 | (-18.07, 80.06, 115.34) |
| 4:100062814 | rs61734620 | C>Y | D:47 | (-12.56, 79.07, 103.20) |
| 4:100062812 | H>Y | D:48 | (-12.64, 77.66, 98.07) | |
| 4:100062808 | T>S | D:49 | (-8.55, 76.97, 101.43) | |
| 4:100062790 | D>V | D:55 | (-8.95, 68.40, 95.68) | |
| 4:100062791 | rs557732938 | D>Y | D:55 | (-8.95, 68.40, 95.68) |
| 4:100062770 | rs201022290 | A>P | D:62 | (-2.21, 64.63, 105.83) |
| 4:100062754 | rs572462879 | V>A | D:67 | (-10.22, 71.27, 108.13) |
| 4:100062755 | COSM1049377 | V>I | D:67 | (-10.22, 71.27, 108.13) |
| 4:100062748 | H>R | D:69 | (-9.02, 78.54, 108.14) | |
| 4:100062746 | rs61754857 | E>K | D:70 | (-12.90, 81.45, 108.93) |
| 4:100062739 | A>V | D:72 | (-14.54, 82.10, 117.17) | |
| 4:100062733 | I>T | D:74 | (-14.50, 80.64, 124.61) | |
| 4:100062727 | E>G | D:76 | (-11.04, 74.76, 128.23) | |
| 4:100062721 | rs61734619 | I>T | D:78 | (-4.02, 77.34, 129.87) |
| 4:100062706 | rs111700010 | T>I | D:83 | (1.11, 84.45, 129.74) |
| 4:100062701 | V>I | D:85 | (-4.66, 83.42, 127.35) | |
| 4:100062692 | rs550356850 | G>S | D:88 | (-12.83, 82.78, 128.97) |
| 4:100060285 | rs144845026 | P>T | D:93 | (-8.23, 81.05, 115.86) |
| 4:100060272 | rs144207170 | P>R | D:97 | (2.14, 82.47, 113.08) |
| 4:100060273 | rs146533284 | P>S | D:97 | (2.14, 82.47, 113.08) |
| 4:100060239 | P>L | D:108 | (8.46, 95.85, 108.86) | |
| 4:100060233 | T>I | D:110 | (6.55, 90.33, 106.69) | |
| 4:100060222 | G>R | D:114 | (9.23, 80.63, 110.68) | |
| 4:100060212 | S>T | D:117 | (8.91, 75.49, 106.97) | |
| 4:100057829 | S>G | D:124 | (0.79, 71.73, 104.15) | |
| 4:100057816 | L>Q | D:128 | (1.78, 67.94, 113.82) | |
| 4:100057813 | rs139273956 | M>T | D:129 | (1.19, 70.72, 117.48) |
| 4:100057806 | D>E | D:131 | (5.30, 67.76, 120.17) | |
| 4:100057804 | rs35229514 | K>T | D:132 | (7.13, 66.76, 115.83) |
| 4:100057780 | rs139053416 | G>E | D:140 | (-7.60, 54.92, 117.58) |
| 4:100057768 | COSM250828 | Y>S | D:144 | (-2.44, 64.31, 110.73) |
| 4:100057769 | rs368546005 COSM308954 |
Y>H | D:144 | (-2.44, 64.31, 110.73) |
| 4:100057765 | H>R | D:145 | (-3.79, 69.27, 113.87) | |
| 4:100057761 | F>L | D:146 | (-5.68, 72.97, 108.10) | |
| 4:100057727 | rs55735703 | V>L | D:158 | (-3.84, 76.25, 119.51) |
| 4:100057720 | D>G | D:160 | (1.07, 80.43, 122.80) | |
| 4:100057717 | I>T | D:161 | (2.32, 81.76, 118.61) | |
| 4:100057704 | rs373730331 | K>N | D:165 | (-7.26, 88.47, 124.37) |
| 4:100057706 | K>E | D:165 | (-7.26, 88.47, 124.37) | |
| 4:100057702 | I>T | D:166 | (-10.89, 89.13, 121.25) | |
| 4:100057700 | D>N | D:167 | (-13.59, 92.76, 123.08) | |
| 4:100057682 | E>K | D:173 | (-22.52, 84.67, 115.51) | |
| 4:100057678 | COSM3598516 | R>T | D:174 | (-21.22, 87.88, 112.27) |
| 4:100057663 | rs367666785 | G>V | D:179 | (-9.59, 84.53, 110.33) |
| 4:100057664 | rs371186714 | G>R | D:179 | (-9.59, 84.53, 110.33) |
| 4:100057639 | G>A | D:187 | (-5.27, 93.75, 103.36) | |
| 4:100057618 | rs180913338 | K>T | D:194 | (0.55, 99.35, 99.38) |
| 4:100052902 | rs372708357 COSM3598514 |
S>L | D:199 | (-7.07, 104.48, 92.35) |
| 4:100052896 | C>Y | D:201 | (-9.25, 98.95, 91.21) | |
| 4:100052879 | COSM226112 | G>R | D:207 | (-16.37, 86.85, 97.65) |
| 4:100052873 | V>L | D:209 | (-11.63, 87.50, 99.79) | |
| 4:100052857 | V>A | D:214 | (-14.24, 96.09, 97.41) | |
| 4:100052852 | rs574884676 | G>R | D:216 | (-10.31, 98.29, 100.86) |
| 4:100052843 | A>T | D:219 | (-10.64, 102.60, 102.39) | |
| 4:100052833 | A>D | D:222 | (-10.52, 104.27, 95.34) | |
| 4:100052834 | rs556499305 | A>T | D:222 | (-10.52, 104.27, 95.34) |
| 4:100052831 | S>T | D:223 | (-11.91, 106.32, 92.16) | |
| 4:100052822 | I>L | D:226 | (-13.65, 97.11, 88.23) | |
| 4:100052809 | I>N | D:230 | (-18.26, 83.61, 86.63) | |
| 4:100052810 | rs375078920 | I>V | D:230 | (-18.26, 83.61, 86.63) |
| 4:100052805 | rs371269435 | N>K | D:231 | (-22.11, 84.78, 89.77) |
| 4:100052806 | N>S | D:231 | (-22.11, 84.78, 89.77) | |
| 4:100052795 | F>L | D:235 | (-22.10, 91.93, 89.93) | |
| 4:100052785 | A>D | D:238 | (-20.18, 94.85, 95.35) | |
| 4:100052750 | R>G | D:250 | (-19.41, 83.24, 81.70) | |
| 4:100052734 | COSM585005 | P>L | D:255 | (-10.98, 89.16, 76.18) |
| 4:100052719 | I>N | D:260 | (-10.72, 96.06, 82.02) | |
| 4:100052716 | rs377695906 | I>T | D:261 | (-7.56, 97.78, 78.74) |
| 4:100052704 | K>T | D:265 | (-9.34, 104.99, 78.45) | |
| 4:100052677 | C>F | D:274 | (-9.89, 87.08, 94.82) | |
| 4:100048489 | A>P | D:284 | (-4.94, 90.37, 86.43) | |
| 4:100048473 | T>I | D:289 | (-1.17, 99.99, 83.68) | |
| 4:100048471 | rs200208857 | A>T | D:290 | (1.63, 100.32, 81.94) |
| 4:100048463 | W>C | D:292 | (1.38, 103.41, 86.62) | |
| 4:100048456 | rs200069768 | C>R | D:295 | (-0.67, 92.10, 90.28) |
| 4:100048446 | rs367861880 | I>T | D:298 | (-5.16, 86.45, 96.87) |
| 4:100048441 | V>I | D:300 | (-5.33, 79.22, 95.26) | |
| 4:100048432 | G>R | D:303 | (-3.77, 72.00, 89.98) | |
| 4:100048414 | rs1126671 | I>V | D:309 | (5.46, 85.46, 82.82) |
| 4:100048409 | F>L | D:310 | (6.38, 86.14, 78.17) | |
| 4:100048410 | F>S | D:310 | (6.38, 86.14, 78.17) | |
| 4:100048411 | F>L | D:310 | (6.38, 86.14, 78.17) | |
| 4:100048407 | P>L | D:311 | (10.06, 89.31, 80.31) | |
| 4:100048402 | E>Q | D:313 | (4.28, 90.62, 80.74) | |
| 4:100048395 | I>T | D:315 | (10.25, 95.33, 80.73) | |
| 4:100048390 | rs374404089 | G>S | D:317 | (5.61, 98.28, 84.42) |
| 4:100048386 | rs29001219 | R>H | D:318 | (2.97, 95.23, 84.32) |
| 4:100048387 | COSM199560 | R>C | D:318 | (2.97, 95.23, 84.32) |
| 4:100048383 | rs147130103 | T>S | D:319 | (4.50, 95.13, 90.24) |
| 4:100048372 | T>A | D:323 | (-1.57, 87.91, 100.35) | |
| 4:100047847 | rs376222749 | T>S | D:339 | (-12.06, 97.54, 117.86) |
| 4:100047844 | rs560682544 | D>G | D:340 | (-11.99, 98.66, 113.68) |
| 4:100047841 | rs542426000 | Y>C | D:341 | (-17.61, 94.68, 113.57) |
| 4:100047823 | rs200202232 | N>S | D:347 | (-20.38, 95.58, 106.26) |
| 4:100047815 | A>P | D:350 | (-22.47, 91.49, 104.09) | |
| 4:100047809 | V>M | D:352 | (-23.32, 86.62, 106.42) | |
| 4:100047802 | H>P | D:354 | (-26.35, 81.35, 103.91) | |
| 4:100047790 | F>S | D:358 | (-20.43, 71.66, 112.35) | |
| 4:100047772 | A>V | D:364 | (-21.70, 74.79, 103.06) | |
| 4:100047758 | N>H | D:369 | (-19.69, 74.25, 95.14) | |
| 4:100045615 | rs56251804 | V>G | D:374 | (-20.68, 85.10, 100.41) |
| 4:100045616 | rs1126673 | V>I | D:374 | (-20.68, 85.10, 100.41) |
| 4:100045612 | R>Q | D:375 | (-17.80, 83.31, 103.84) | |
| 4:100045603 | rs551046678 | L>H | D:378 | (-20.91, 76.67, 110.62) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:100063841 | COSM1633377 | V>I | D:37 | (-4.63, 77.01, 124.00) |
| 4:100063838 | COSM3767610 | R>C | D:38 | (-8.56, 72.40, 125.48) |
| 4:100057780 | COSM107470 | G>E | D:140 | (-7.60, 54.92, 117.58) |
| 4:100047784 | COSM1618187 | K>R | D:360 | (-26.75, 70.91, 108.44) |