General Structure Information
| PDB ID | 1mu9 |
| HGNC Gene Label(s) | TDP1 |
| Structure Name | crystal structure of a human tyrosyl-dna phosphodiesterase (tdp1)- vanadate complex |
| Resolution | 2.05Å |
| Reference | AUTH D.R.DAVIES,H.INTERTHAL,J.J.CHAMPOUX,W.G.J.HOLTITL INSIGHTS INTO SUBSTRATE BINDING AND CATALYTIC MECHANISM OFTITL 2 HUMAN TYROSYL-DNA PHOSPHODIESTERASE (TDP1) FROM VANADATE-TITL 3 AND TUNGSTATE-INHIBITED STRUCTURESREF J.MOL.BIOL. V. 324 917 2002REFN ISSN 0022-2836PMID 12470949DOI 10.1016/S0022-2836(02)01154-3 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 425 |
| Number Of SNVs | 107 |
| Number Of Permutations | 20101 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.227 |
| p-value | 0.052 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:90429970 | V>A | A:171 | (-3.30, 67.68, 0.99) | |
| 14:90429987 | COSM3956276 | K>E | A:177 | (-12.14, 72.23, 6.16) |
| 14:90430000 | rs553373925 | G>E | A:181 | (-4.15, 69.68, 11.49) |
| 14:90430002 | rs371486675 | A>S | A:182 | (-1.92, 69.30, 9.19) |
| 14:90432493 | I>L | A:188 | (8.17, 68.80, 11.20) | |
| 14:90432502 | P>S | A:191 | (12.07, 77.34, 13.93) | |
| 14:90432515 | T>M | A:195 | (17.36, 75.47, 18.19) | |
| 14:90433717 | Y>H | A:204 | (13.00, 53.21, -0.12) | |
| 14:90433726 | rs543257445 | D>N | A:207 | (15.18, 64.74, -3.40) |
| 14:90433729 | V>M | A:208 | (19.02, 65.56, -1.25) | |
| 14:90433732 | D>Y | A:209 | (18.46, 68.97, -3.84) | |
| 14:90433733 | D>V | A:209 | (18.46, 68.97, -3.84) | |
| 14:90433762 | rs148474327 | F>L | A:219 | (18.00, 75.33, 11.26) |
| 14:90433765 | R>G | A:220 | (18.86, 75.32, 4.39) | |
| 14:90437521 | rs145987197 | K>T | A:221 | (24.70, 75.41, 6.82) |
| 14:90437526 | P>A | A:223 | (24.58, 68.43, 10.96) | |
| 14:90437529 | I>V | A:224 | (21.95, 65.98, 7.74) | |
| 14:90437554 | R>Q | A:232 | (24.60, 47.19, -5.99) | |
| 14:90437558 | rs182245462 | E>D | A:233 | (24.36, 51.27, -9.51) |
| 14:90437568 | H>Y | A:237 | (22.12, 58.94, -7.63) | |
| 14:90437575 | H>R | A:239 | (27.14, 58.95, -1.69) | |
| 14:90437587 | K>R | A:243 | (29.76, 65.62, -3.70) | |
| 14:90437590 | P>R | A:244 | (26.78, 68.95, -2.89) | |
| 14:90437592 | rs541453571 | Y>N | A:245 | (24.03, 69.45, -0.22) |
| 14:90437595 | E>K | A:246 | (29.13, 69.15, 3.57) | |
| 14:90442134 | D>N | A:256 | (22.84, 40.97, 5.06) | |
| 14:90442141 | A>V | A:258 | (17.13, 39.00, 0.27) | |
| 14:90446894 | L>V | A:268 | (16.42, 61.39, 15.04) | |
| 14:90446904 | Y>C | A:271 | (15.84, 70.39, 18.59) | |
| 14:90446913 | G>V | A:274 | (16.33, 68.83, 22.86) | |
| 14:90446918 | R>W | A:276 | (10.79, 66.52, 18.64) | |
| 14:90446927 | rs558781470 | I>L | A:279 | (7.80, 57.69, 13.78) |
| 14:90446928 | I>T | A:279 | (7.80, 57.69, 13.78) | |
| 14:90446931 | H>R | A:280 | (7.45, 59.43, 8.89) | |
| 14:90446960 | rs184648965 | H>Y | A:290 | (1.38, 67.59, -3.41) |
| 14:90446968 | rs190449861 | K>N | A:292 | (0.17, 61.08, -1.36) |
| 14:90450861 | I>V | A:296 | (2.92, 62.29, 11.35) | |
| 14:90450862 | I>T | A:296 | (2.92, 62.29, 11.35) | |
| 14:90450863 | rs371566573 | I>M | A:296 | (2.92, 62.29, 11.35) |
| 14:90450871 | rs373753771 | S>N | A:299 | (7.74, 63.33, 20.12) |
| 14:90450874 | COSM3886477 | P>L | A:300 | (7.54, 64.49, 23.19) |
| 14:90450879 | rs375817400 | Y>H | A:302 | (11.79, 63.33, 24.26) |
| 14:90450886 | rs34452707 | R>Q | A:304 | (20.56, 66.92, 27.46) |
| 14:90450888 | I>L | A:305 | (19.22, 63.72, 31.75) | |
| 14:90450889 | rs367992333 | I>T | A:305 | (19.22, 63.72, 31.75) |
| 14:90450898 | rs145417794 | G>A | A:308 | (23.31, 65.41, 38.34) |
| 14:90450906 | K>E | A:311 | (17.00, 60.05, 35.89) | |
| 14:90450907 | K>R | A:311 | (17.00, 60.05, 35.89) | |
| 14:90450918 | S>P | A:315 | (8.70, 54.81, 29.49) | |
| 14:90450927 | rs372524167 | H>Y | A:318 | (9.82, 49.86, 28.50) |
| 14:90450940 | D>V | A:322 | (12.39, 49.52, 22.83) | |
| 14:90450958 | M>T | A:328 | (21.78, 48.41, 18.32) | |
| 14:90450970 | A>V | A:332 | (26.32, 51.82, 12.99) | |
| 14:90450973 | rs142600338 | P>L | A:333 | (29.19, 53.83, 13.25) |
| 14:90450978 | L>F | A:335 | (23.34, 55.18, 14.40) | |
| 14:90450992 | I>M | A:339 | (22.50, 55.25, 20.75) | |
| 14:90450996 | V>L | A:341 | (21.86, 61.44, 22.04) | |
| 14:90451504 | rs368969696 | R>C | A:361 | (17.31, 34.28, 9.73) |
| 14:90451505 | rs371563681 | R>H | A:361 | (17.31, 34.28, 9.73) |
| 14:90451535 | G>V | A:371 | (7.13, 42.29, 14.29) | |
| 14:90451538 | H>R | A:372 | (3.98, 38.96, 13.49) | |
| 14:90455260 | D>E | A:381 | (1.70, 41.83, 27.98) | |
| 14:90455295 | P>L | A:393 | (-13.06, 43.62, 13.74) | |
| 14:90455300 | V>I | A:395 | (-8.50, 47.09, 10.11) | |
| 14:90455311 | F>L | A:398 | (-2.38, 47.86, 2.74) | |
| 14:90455334 | A>G | A:406 | (-1.63, 29.91, -2.40) | |
| 14:90455348 | W>G | A:411 | (1.56, 35.82, 6.56) | |
| 14:90455366 | rs138135786 | K>E | A:417 | (-5.99, 36.97, 11.56) |
| 14:90455369 | E>K | A:418 | (-3.63, 34.47, 15.29) | |
| 14:90455371 | E>D | A:418 | (-3.63, 34.47, 15.29) | |
| 14:90455387 | COSM1371470 | G>R | A:424 | (-4.36, 38.98, 26.23) |
| 14:90455426 | L>F | A:437 | (-9.37, 40.45, 7.86) | |
| 14:90455429 | rs182086916 | Y>H | A:438 | (-12.90, 43.84, 7.59) |
| 14:90456067 | P>S | A:442 | (-6.25, 51.30, -3.35) | |
| 14:90456085 | rs141725364 | R>W | A:448 | (-10.17, 57.01, -12.93) |
| 14:90456086 | rs144746398 | R>Q | A:448 | (-10.17, 57.01, -12.93) |
| 14:90456101 | G>E | A:453 | (-4.05, 59.89, -10.73) | |
| 14:90456106 | P>A | A:455 | (0.36, 58.90, -11.43) | |
| 14:90458264 | rs552293742 | G>A | A:457 | (0.55, 54.16, -8.69) |
| 14:90458279 | Y>C | A:462 | (-0.21, 44.06, -6.08) | |
| 14:90458291 | rs148525862 | T>R | A:466 | (2.41, 38.84, -6.92) |
| 14:90458293 | A>T | A:467 | (-1.50, 39.05, -8.03) | |
| 14:90458294 | rs371731167 | A>D | A:467 | (-1.50, 39.05, -8.03) |
| 14:90458320 | Y>D | A:476 | (-9.79, 39.10, 2.73) | |
| 14:90458326 | H>Y | A:478 | (-12.49, 46.54, 1.91) | |
| 14:90459725 | W>L | A:480 | (-8.60, 55.55, 0.96) | |
| 14:90459742 | G>S | A:486 | (-10.78, 64.86, 2.82) | |
| 14:90459745 | R>C | A:487 | (-7.21, 63.61, 3.21) | |
| 14:90459746 | rs567684858 | R>H | A:487 | (-7.21, 63.61, 3.21) |
| 14:90459755 | A>G | A:490 | (-5.69, 61.22, -1.17) | |
| 14:90459775 | COSM3956277 | Y>D | A:497 | (-1.98, 47.70, 10.33) |
| 14:90459794 | D>G | A:503 | (-20.12, 49.54, 16.32) | |
| 14:90459813 | rs369742694 | W>C | A:509 | (-4.97, 47.52, 18.13) |
| 14:90485661 | rs200769126 | A>T | A:515 | (4.33, 48.25, 7.38) |
| 14:90485664 | rs377027327 | N>D | A:516 | (3.31, 47.59, 3.64) |
| 14:90485673 | K>E | A:519 | (6.01, 37.20, 4.27) | |
| 14:90485674 | K>R | A:519 | (6.01, 37.20, 4.27) | |
| 14:90485688 | rs554308994 | A>T | A:524 | (8.15, 34.60, 8.53) |
| 14:90485692 | L>S | A:525 | (7.33, 31.45, 11.21) | |
| 14:90485694 | E>Q | A:526 | (11.80, 30.12, 8.89) | |
| 14:90485697 | rs144968093 | K>E | A:527 | (13.65, 26.13, 11.47) |
| 14:90485721 | COSM4052868 | R>C | A:535 | (13.34, 39.31, 3.59) |
| 14:90485722 | rs113531329 | R>H | A:535 | (13.34, 39.31, 3.59) |
| 14:90485725 | S>F | A:536 | (12.99, 44.62, 6.26) | |
| 14:90485730 | E>K | A:538 | (9.64, 48.30, 8.57) | |
| 14:90485736 | G>R | A:540 | (6.14, 51.92, 14.75) | |
| 14:90485751 | P>S | A:545 | (-5.79, 52.06, 25.69) | |
| 14:90499510 | rs35973343 | T>A | A:569 | (-11.25, 60.65, 20.69) |
| 14:90499540 | rs145520762 | E>K | A:579 | (-17.11, 50.53, 0.72) |
| 14:90499544 | L>Q | A:580 | (-16.51, 45.46, -0.28) | |
| 14:90499546 | Y>H | A:581 | (-12.65, 46.27, -3.81) | |
| 14:90499547 | Y>C | A:581 | (-12.65, 46.27, -3.81) | |
| 14:90499552 | rs201355368 | S>G | A:583 | (-18.26, 43.59, -9.07) |
| 14:90509416 | R>W | A:586 | (-9.94, 46.56, -11.40) | |
| 14:90509417 | R>Q | A:586 | (-9.94, 46.56, -11.40) | |
| 14:90509427 | I>M | A:589 | (-2.12, 46.10, -10.59) | |
| 14:90509431 | N>D | A:591 | (2.95, 46.07, -13.70) | |
| 14:90509450 | rs143446933 | A>V | A:597 | (-10.14, 55.30, -18.73) |
| 14:90509453 | rs113382706 | P>L | A:598 | (-9.62, 58.67, -18.77) |
| 14:90509459 | T>M | A:600 | (-8.09, 63.44, -13.10) | |
| 14:90509462 | rs144917055 | H>R | A:601 | (-4.93, 65.06, -14.55) |
| 14:90509470 | M>V | A:604 | (-4.47, 56.86, -20.34) |