General Structure Information
| PDB ID | 2gf2 |
| HGNC Gene Label(s) | HIBADH |
| Structure Name | crystal structure of human hydroxyisobutyrate dehydrogenase |
| Resolution | 2.38Å |
| Reference | AUTH E.PAPAGRIGORIOU,E.SALAH,A.P.TURNBULL,C.SMEE,AUTH 2 N.BURGESS,O.GILEADI,F.VON DELFT,F.GORREC,AUTH 3 C.H.ARROWSMITH,J.WEIGELT,M.SUNDSTROM,A.M.EDWARDS,AUTH 4 U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN HYDROXYISOBUTYRATETITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 292 |
| Number Of SNVs | 82 |
| Number Of Permutations | 41466 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.263 |
| p-value | 0.028 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:27689222 | P>L | B:41 | (7.33, -111.40, -98.17) | |
| 7:27689184 | M>V | B:54 | (10.20, -106.83, -83.21) | |
| 7:27689174 | N>S | B:57 | (9.20, -112.95, -82.71) | |
| 7:27689172 | L>V | B:58 | (7.94, -111.93, -87.66) | |
| 7:27689159 | rs199711707 | G>D | B:62 | (7.20, -117.87, -90.84) |
| 7:27689147 | rs200152065 | I>T | B:66 | (12.78, -108.11, -97.01) |
| 7:27689148 | I>V | B:66 | (12.78, -108.11, -97.01) | |
| 7:27689138 | D>V | B:69 | (19.95, -101.14, -90.59) | |
| 7:27689136 | rs144839195 | V>M | B:70 | (22.17, -97.71, -91.59) |
| 7:27689131 | COSM3923448 | F>L | B:71 | (24.90, -99.47, -88.43) |
| 7:27689126 | D>G | B:73 | (27.45, -104.89, -88.67) | |
| 7:27689124 | rs142705490 | A>T | B:74 | (22.67, -105.41, -87.89) |
| 7:27689118 | rs368162784 | K>E | B:76 | (24.57, -110.23, -90.51) |
| 7:27689115 | rs371063501 COSM351593 |
E>K | B:77 | (22.03, -111.88, -86.66) |
| 7:27689099 | G>V | B:82 | (17.84, -116.58, -94.89) | |
| 7:27689094 | Q>E | B:84 | (16.48, -110.73, -99.12) | |
| 7:27672040 | A>T | B:93 | (9.29, -101.95, -101.20) | |
| 7:27671992 | A>T | B:109 | (11.27, -91.98, -90.04) | |
| 7:27671988 | rs138022348 | I>T | B:110 | (10.98, -88.55, -92.23) |
| 7:27671983 | A>P | B:112 | (12.59, -94.18, -94.41) | |
| 7:27671974 | G>R | B:115 | (13.69, -90.29, -98.96) | |
| 7:27671970 | A>V | B:116 | (16.10, -90.71, -101.66) | |
| 7:27671959 | COSM3637764 | L>V | B:120 | (7.35, -93.64, -100.58) |
| 7:27671956 | K>E | B:121 | (11.14, -93.16, -104.06) | |
| 7:27669107 | rs201182843 | V>M | B:123 | (5.47, -98.13, -102.68) |
| 7:27669100 | K>R | B:125 | (-1.30, -99.31, -105.43) | |
| 7:27669098 | G>C | B:126 | (-1.66, -101.92, -101.12) | |
| 7:27669070 | I>T | B:135 | (6.95, -90.53, -84.00) | |
| 7:27669071 | I>V | B:135 | (6.95, -90.53, -84.00) | |
| 7:27669065 | COSM3637763 | P>T | B:137 | (1.61, -87.46, -83.49) |
| 7:27669061 | A>E | B:138 | (1.96, -85.03, -86.79) | |
| 7:27669053 | K>E | B:141 | (-1.34, -87.08, -88.90) | |
| 7:27669040 | K>R | B:145 | (-0.95, -87.78, -96.12) | |
| 7:27669024 | M>I | B:150 | (2.03, -93.74, -103.64) | |
| 7:27669023 | rs201853551 | G>R | B:151 | (-1.89, -96.27, -102.55) |
| 7:27582717 | rs561279065 | V>I | B:163 | (14.41, -105.38, -74.88) |
| 7:27582701 | S>C | B:168 | (9.00, -112.32, -75.25) | |
| 7:27582695 | N>S | B:170 | (5.06, -110.10, -74.19) | |
| 7:27582693 | COSM3923447 | L>V | B:171 | (5.54, -105.78, -77.19) |
| 7:27582689 | T>M | B:172 | (1.76, -103.15, -76.08) | |
| 7:27582683 | M>T | B:174 | (-0.22, -98.46, -78.78) | |
| 7:27582684 | M>V | B:174 | (-0.22, -98.46, -78.78) | |
| 7:27582681 | V>M | B:175 | (-2.76, -99.25, -83.63) | |
| 7:27582674 | G>V | B:177 | (-5.98, -95.92, -88.35) | |
| 7:27582675 | G>R | B:177 | (-5.98, -95.92, -88.35) | |
| 7:27582650 | COSM746290 | A>V | B:185 | (-2.04, -105.56, -88.61) |
| 7:27582640 | L>F | B:188 | (1.98, -108.84, -88.92) | |
| 7:27582633 | rs200702367 | C>R | B:191 | (3.83, -112.23, -84.02) |
| 7:27582624 | S>P | B:194 | (0.60, -109.62, -76.10) | |
| 7:27582618 | V>M | B:196 | (-2.81, -105.42, -80.58) | |
| 7:27578035 | A>V | B:207 | (-0.95, -90.44, -78.32) | |
| 7:27578028 | K>N | B:209 | (3.78, -94.41, -76.14) | |
| 7:27578015 | M>V | B:214 | (3.23, -87.66, -69.18) | |
| 7:27578012 | L>V | B:215 | (1.13, -90.95, -65.95) | |
| 7:27578003 | I>V | B:218 | (4.22, -87.65, -63.34) | |
| 7:27577997 | M>V | B:220 | (8.89, -93.00, -61.05) | |
| 7:27577988 | T>A | B:223 | (7.38, -92.82, -56.08) | |
| 7:27577984 | A>G | B:224 | (10.84, -90.78, -55.43) | |
| 7:27577985 | A>T | B:224 | (10.84, -90.78, -55.43) | |
| 7:27577973 | N>Y | B:228 | (13.39, -89.06, -50.12) | |
| 7:27570951 | K>E | B:238 | (11.10, -102.68, -47.13) | |
| 7:27570947 | rs371636646 | L>P | B:239 | (6.58, -99.63, -44.07) |
| 7:27570942 | rs140422741 | A>S | B:241 | (5.99, -99.47, -50.04) |
| 7:27570939 | K>E | B:242 | (3.57, -102.41, -46.79) | |
| 7:27570923 | S>T | B:247 | (-2.94, -97.28, -50.60) | |
| 7:27570905 | S>L | B:253 | (6.25, -97.05, -60.20) | |
| 7:27570906 | rs147879630 | S>P | B:253 | (6.25, -97.05, -60.20) |
| 7:27570867 | rs529685275 | G>R | B:266 | (14.05, -107.23, -60.55) |
| 7:27570864 | V>I | B:267 | (13.97, -103.88, -60.18) | |
| 7:27570858 | S>P | B:269 | (16.88, -100.47, -58.01) | |
| 7:27570848 | N>T | B:272 | (23.38, -99.06, -60.15) | |
| 7:27570824 | T>R | B:280 | (17.86, -90.60, -73.09) | |
| 7:27570811 | K>N | B:284 | (12.26, -89.30, -77.12) | |
| 7:27565990 | D>V | B:285 | (9.10, -90.17, -74.97) | |
| 7:27565971 | COSM1131607 | D>E | B:291 | (6.36, -80.47, -78.42) |
| 7:27565973 | D>N | B:291 | (6.36, -80.47, -78.42) | |
| 7:27565964 | T>A | B:294 | (2.37, -76.58, -77.00) | |
| 7:27565955 | K>E | B:297 | (-3.25, -74.73, -77.09) | |
| 7:27565951 | S>I | B:298 | (-2.60, -78.98, -73.36) | |
| 7:27565949 | P>T | B:299 | (-2.65, -77.79, -69.63) | |
| 7:27565946 | rs148565588 | I>V | B:300 | (1.54, -80.20, -69.11) |
| 7:27565928 | A>T | B:306 | (9.15, -84.24, -65.71) | |
| 7:27565907 | M>L | B:313 | (18.33, -86.58, -64.96) | |
| 7:27565902 | C>W | B:314 | (20.58, -86.24, -69.34) | |
| 7:27565892 | Y>H | B:318 | (21.59, -89.81, -63.54) | |
| 7:27565882 | K>R | B:321 | (21.51, -94.85, -65.21) | |
| 7:27565875 | F>L | B:323 | (12.75, -94.52, -65.56) | |
| 7:27565873 | S>L | B:324 | (14.40, -95.30, -61.69) | |
| 7:27565868 | V>M | B:326 | (14.75, -90.05, -60.10) |