General Structure Information
| PDB ID | 3e04 |
| HGNC Gene Label(s) | FH |
| Structure Name | crystal structure of human fumarate hydratase |
| Resolution | 1.95Å |
| Reference | AUTH K.L.KAVANAGH,S.PICAUD,E.S.PILKA,W.W.YUE,A.K.ROOS,AUTH 2 P.FILIPPAKOPOULOS,F.VON DELFT,C.H.ARROWSMITH,M.WIKSTROM,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANN,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF HUMAN FUMARATE HYDRATASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
ClinVar
COSMIC
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of ClinVar SNVs | 18 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.047 |
| p-value | 0.466 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 41.0 |
| K Statistic | 0.327 |
| p-value | 0.425 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:241680598 | COSM138282 | R>W | C:51 | (114.48, -54.80, 40.78) |
| 1:241680595 | rs543844061 | I>L | C:52 | (119.54, -54.44, 43.70) |
| 1:241680579 | F>S | C:57 | (123.60, -40.59, 46.03) | |
| 1:241680566 | K>N | C:61 | (115.34, -51.70, 46.59) | |
| 1:241680557 | N>K | C:64 | (110.74, -57.48, 40.73) | |
| 1:241680555 | rs145116688 | D>G | C:65 | (105.85, -55.37, 41.60) |
| 1:241680556 | D>N | C:65 | (105.85, -55.37, 41.60) | |
| 1:241680541 | COSM4030154 | A>T | C:70 | (116.63, -45.96, 41.23) |
| 1:241680532 | rs201878591 | V>M | C:73 | (113.36, -45.45, 44.96) |
| 1:241680527 | rs146739519 | R>S | C:74 | (117.44, -42.22, 46.48) |
| 1:241680528 | rs200922399 | R>K | C:74 | (117.44, -42.22, 46.48) |
| 1:241680522 | COSM1243267 | T>M | C:76 | (110.43, -42.10, 47.40) |
| 1:241680491 | E>D | C:86 | (99.79, -34.91, 47.69) | |
| 1:241680489 | rs200007371 COSM906412 |
R>H | C:87 | (100.21, -40.45, 43.70) |
| 1:241680490 | rs139642944 | R>C | C:87 | (100.21, -40.45, 43.70) |
| 1:241680486 | M>T | C:88 | (102.00, -36.21, 39.99) | |
| 1:241677004 | rs573311798 | I>V | C:93 | (101.47, -39.68, 34.36) |
| 1:241676979 | rs75086406 | R>Q | C:101 | (103.65, -42.67, 20.45) |
| 1:241676976 | rs61753295 | A>V | C:102 | (105.78, -38.78, 20.00) |
| 1:241676954 | D>E | C:109 | (113.34, -38.94, 11.66) | |
| 1:241676949 | G>D | C:111 | (118.35, -42.67, 14.95) | |
| 1:241676935 | rs201532589 | I>F | C:116 | (114.12, -49.45, 20.63) |
| 1:241676929 | rs200738857 | N>D | C:118 | (107.97, -49.65, 17.91) |
| 1:241676923 | rs199641124 | I>V | C:120 | (109.43, -46.65, 23.63) |
| 1:241675421 | D>V | C:134 | (100.17, -48.66, 40.46) | |
| 1:241675407 | rs200343823 | V>M | C:139 | (104.94, -36.31, 45.39) |
| 1:241675404 | V>I | C:140 | (103.50, -32.39, 43.64) | |
| 1:241675371 | M>L | C:151 | (113.80, -39.37, 36.07) | |
| 1:241675353 | I>V | C:157 | (108.57, -46.31, 29.28) | |
| 1:241675337 | I>T | C:162 | (113.37, -53.97, 28.64) | |
| 1:241675301 | rs199822819 CM030850 |
P>R | C:174 | (117.49, -52.87, 25.11) |
| 1:241675290 | rs200222595 | N>D | C:178 | (118.73, -40.44, 28.94) |
| 1:241672061 | A>T | C:194 | (102.67, -32.52, 30.00) | |
| 1:241672054 | H>R | C:196 | (100.26, -26.84, 28.50) | |
| 1:241672043 | A>T | C:200 | (93.58, -29.64, 27.41) | |
| 1:241672025 | V>I | C:206 | (86.00, -32.91, 32.35) | |
| 1:241671997 | H>R | C:215 | (73.65, -24.21, 29.11) | |
| 1:241671993 | rs199536615 | D>E | C:216 | (71.93, -27.72, 28.38) |
| 1:241671986 | rs11545656 | D>N | C:219 | (67.90, -23.31, 28.97) |
| 1:241671976 | S>F | C:222 | (64.24, -21.06, 31.72) | |
| 1:241671964 | A>E | C:226 | (58.66, -18.67, 31.46) | |
| 1:241671958 | I>N | C:228 | (56.52, -18.86, 36.76) | |
| 1:241671956 | I>V | C:229 | (55.15, -14.05, 37.42) | |
| 1:241671952 | K>R | C:230 | (59.72, -14.24, 40.95) | |
| 1:241671943 | rs121913123;rs121913124 | R>H | C:233 | (64.09, -11.29, 46.07) |
| 1:241671934 | T>I | C:236 | (67.57, -8.87, 50.17) | |
| 1:241669467 | rs201223034 | E>V | C:247 | (66.01, -15.59, 38.19) |
| 1:241669463 | rs200094834 | F>L | C:248 | (66.76, -20.21, 36.45) |
| 1:241669461 | S>T | C:249 | (68.39, -16.43, 31.97) | |
| 1:241669444 | V>I | C:255 | (77.29, -21.26, 32.20) | |
| 1:241669435 | A>T | C:258 | (82.23, -19.74, 31.26) | |
| 1:241669419 | K>T | C:263 | (86.33, -22.08, 24.70) | |
| 1:241669411 | M>V | C:266 | (92.94, -23.06, 25.91) | |
| 1:241669398 | rs202060616 | Y>C | C:270 | (95.89, -25.56, 22.58) |
| 1:241669390 | A>T | C:273 | (108.16, -26.66, 25.03) | |
| 1:241669333 | K>Q | C:292 | (108.60, -33.50, 13.43) | |
| 1:241669330 | V>I | C:293 | (106.73, -33.52, 18.72) | |
| 1:241669324 | rs145843819 | A>T | C:295 | (102.23, -32.59, 15.21) |
| 1:241667539 | rs200491078 | P>R | C:304 | (94.99, -27.60, 18.60) |
| 1:241667533 | rs147991516 | V>A | C:306 | (101.43, -25.55, 18.53) |
| 1:241667524 | P>L | C:309 | (106.39, -19.39, 19.46) | |
| 1:241667525 | rs368849989 | P>S | C:309 | (106.39, -19.39, 19.46) |
| 1:241667492 | COSM906405 | A>T | C:320 | (98.81, -20.17, 30.56) |
| 1:241667489 | L>V | C:321 | (98.68, -22.66, 33.69) | |
| 1:241667464 | N>S | C:329 | (88.40, -17.41, 39.52) | |
| 1:241667462 | T>A | C:330 | (85.30, -16.20, 36.53) | |
| 1:241667437 | rs201975537 | I>T | C:338 | (74.04, -20.25, 40.14) |
| 1:241667430 | rs398123159 CM060264 |
N>K | C:340 | (73.73, -19.05, 47.26) |
| 1:241667432 | N>D | C:340 | (73.73, -19.05, 47.26) | |
| 1:241667425 | rs201383596 | I>T | C:342 | (69.31, -22.59, 43.73) |
| 1:241667401 | R>Q | C:350 | (55.77, -23.79, 56.61) | |
| 1:241667402 | R>W | C:350 | (55.77, -23.79, 56.61) | |
| 1:241667399 | S>A | C:351 | (60.91, -19.86, 57.67) | |
| 1:241665852 | rs200796606 CM042345 |
Q>P | C:376 | (74.72, -31.13, 45.06) |
| 1:241665841 | rs149787922 | M>V | C:380 | (79.25, -26.16, 43.34) |
| 1:241665831 | V>G | C:383 | (84.22, -26.48, 44.43) | |
| 1:241665822 | Q>P | C:386 | (89.41, -25.11, 46.71) | |
| 1:241665793 | V>L | C:396 | (102.42, -17.40, 43.97) | |
| 1:241665780 | N>S | C:400 | (107.97, -16.85, 41.91) | |
| 1:241665775 | H>Y | C:402 | (113.64, -17.89, 39.41) | |
| 1:241665748 | rs201381362 | M>V | C:411 | (102.16, -25.79, 42.28) |
| 1:241663844 | rs201644919 | V>A | C:428 | (77.67, -33.47, 36.22) |
| 1:241663824 | rs147528200 | V>M | C:435 | (68.97, -28.45, 38.08) |
| 1:241663803 | COSM1340612 | T>A | C:442 | (53.28, -22.04, 41.77) |
| 1:241663787 | K>T | C:447 | (50.61, -16.42, 48.89) | |
| 1:241663780 | rs376502356 CD020860 |
M>I | C:449 | (52.59, -11.36, 43.59) |
| 1:241663782 | rs199664825 | M>V | C:449 | (52.59, -11.36, 43.59) |
| 1:241663775 | E>G | C:451 | (51.21, -10.10, 49.07) | |
| 1:241663765 | M>I | C:454 | (56.39, -3.88, 44.60) | |
| 1:241661145 | M>V | C:506 | (55.10, -5.26, 35.58) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:241680541 | rs587782207 | A>T | C:70 | (116.63, -45.96, 41.23) |
| 1:241676979 | rs75086406 | R>Q | C:101 | (103.65, -42.67, 20.45) |
| 1:241676961 | rs121913121 | N>T | C:107 | (113.53, -39.69, 17.80) |
| 1:241675301 | rs199822819 | P>R | C:174 | (117.49, -52.87, 25.11) |
| 1:241675268 | rs779707997 | Q>R | C:185 | (113.58, -35.46, 25.53) |
| 1:241672084 | rs587782618 | S>N | C:186 | (114.77, -31.76, 28.85) |
| 1:241672081 | rs398123166 | S>L | C:187 | (113.31, -32.25, 32.29) |
| 1:241671943 | rs121913123 | R>L | C:233 | (64.09, -11.29, 46.07) |
| 1:241671944 | rs587781682 | R>C | C:233 | (64.09, -11.29, 46.07) |
| 1:241671941 | rs372505976 | T>A | C:234 | (66.90, -5.72, 45.06) |
| 1:241669414 | rs387906545 | A>T | C:265 | (92.07, -19.49, 28.02) |
| 1:241669390 | rs772190176 | A>T | C:273 | (108.16, -26.66, 25.03) |
| 1:241667498 | rs398123168 | H>Y | C:318 | (104.34, -21.97, 33.31) |
| 1:241667430 | rs398123159 | N>K | C:340 | (73.73, -19.05, 47.26) |
| 1:241667402 | rs755436052 | R>W | C:350 | (55.77, -23.79, 56.61) |
| 1:241667366 | rs121913119 | E>Q | C:362 | (69.81, -36.12, 52.72) |
| 1:241665852 | rs200796606 | Q>P | C:376 | (74.72, -31.13, 45.06) |
| 1:241665825 | rs727503926 | A>D | C:385 | (86.19, -21.79, 47.23) |
| 1:241663872 | rs200004220 | S>P | C:419 | (90.09, -26.64, 39.56) |
| 1:241663826 | rs398123164 | C>Y | C:434 | (69.50, -30.29, 41.59) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:241680603 | COSM3486121 | S>F | C:49 | (110.52, -59.53, 46.01) |
| 1:241680522 | COSM1243267 | T>M | C:76 | (110.43, -42.10, 47.40) |
| 1:241675287 | COSM906408 | D>N | C:179 | (120.38, -42.56, 25.87) |
| 1:241665814 | COSM1502001 | G>W | C:389 | (92.72, -20.71, 46.04) |
| 1:241663880 | COSM1340614 | V>A | C:416 | (94.97, -26.32, 36.91) |