General Structure Information
| PDB ID | 2wwy |
| HGNC Gene Label(s) | RECQL |
| Structure Name | structure of human recq-like helicase in complex with a dna substrate |
| Resolution | 2.9Å |
| Reference | AUTH A.C.W.PIKE,Y.ZHANG,C.SCHNECKE,A.CHAIKUAD,T.KROJER,AUTH 2 C.D.O.COOPER,F.VON DELFT,C.H.ARROWSMITH,J.WEIGELT,AUTH 3 A.EDWARDS,C.BOUNTRA,O.GILEADITITL RECQ1 HELICASE-DRIVEN DNA UNWINDING, ANNEALING, AND BRANCHTITL 2 MIGRATION: INSIGHTS FROM DNA COMPLEX STRUCTURESREF PROC.NATL.ACAD.SCI.USA V. 112 4286 2015REFN ISSN 0027-8424PMID 25831490DOI 10.1073/PNAS.1417594112 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 530 |
| Number Of SNVs | 154 |
| Number Of Permutations | 44309 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.014 |
| p-value | 0.286 |
COSMIC
| Number Of Residues | 530 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2463 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.067 |
| p-value | 0.189 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 154 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 40.0 |
| K Statistic | -0.31 |
| p-value | 0.061 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:21644468 | A>T | B:67 | (47.59, -8.36, 14.64) | |
| 12:21644458 | K>T | B:70 | (47.59, -14.37, 11.93) | |
| 12:21644453 | D>N | B:72 | (49.38, -19.04, 13.29) | |
| 12:21643298 | rs370761488 | G>S | B:77 | (41.32, -25.93, 11.08) |
| 12:21643293 | K>N | B:78 | (37.88, -27.55, 13.99) | |
| 12:21643282 | I>T | B:82 | (33.26, -25.55, 10.38) | |
| 12:21643250 | R>G | B:93 | (31.86, -10.38, 4.43) | |
| 12:21643246 | P>Q | B:94 | (35.28, -7.71, 6.27) | |
| 12:21643228 | I>S | B:100 | (36.50, -15.77, 15.09) | |
| 12:21643223 | rs1065751 | V>I | B:102 | (39.60, -12.57, 19.99) |
| 12:21643220 | T>P | B:103 | (36.37, -15.47, 20.98) | |
| 12:21643217 | M>V | B:104 | (38.58, -19.31, 20.03) | |
| 12:21643206 | rs564685152 | K>N | B:107 | (38.91, -12.63, 25.10) |
| 12:21643202 | rs200060542 | V>I | B:109 | (34.86, -8.34, 21.84) |
| 12:21643189 | M>T | B:113 | (29.25, -4.40, 11.49) | |
| 12:21643190 | M>L | B:113 | (29.25, -4.40, 11.49) | |
| 12:21643161 | C>W | B:122 | (31.08, -14.04, 14.84) | |
| 12:21643162 | rs572475241 | C>Y | B:122 | (31.08, -14.04, 14.84) |
| 12:21643160 | rs369075997 | Y>H | B:123 | (26.73, -15.51, 17.45) |
| 12:21643151 | rs376895551 | P>S | B:126 | (32.44, -20.29, 17.61) |
| 12:21643141 | rs187203579 | C>Y | B:129 | (34.55, -25.46, 17.89) |
| 12:21643142 | C>R | B:129 | (34.55, -25.46, 17.89) | |
| 12:21639513 | rs150306543 | T>I | B:134 | (26.10, -20.53, 23.13) |
| 12:21639483 | M>T | B:144 | (14.42, -14.88, 18.37) | |
| 12:21639446 | I>M | B:156 | (22.42, -26.56, 13.30) | |
| 12:21639444 | S>L | B:157 | (20.57, -27.98, 16.98) | |
| 12:21639435 | M>T | B:160 | (12.95, -20.02, 21.66) | |
| 12:21639436 | M>V | B:160 | (12.95, -20.02, 21.66) | |
| 12:21639421 | rs73082680 | S>C | B:165 | (5.97, -21.10, 26.41) |
| 12:21636492 | rs144313838 | V>D | B:173 | (14.64, -26.68, 27.84) |
| 12:21636489 | H>R | B:174 | (14.60, -26.31, 32.49) | |
| 12:21636477 | rs140457172 | V>E | B:178 | (21.74, -30.88, 32.12) |
| 12:21636471 | K>R | B:180 | (25.05, -35.10, 29.03) | |
| 12:21636465 | S>Y | B:182 | (22.67, -32.65, 24.14) | |
| 12:21636463 | rs542491982 | E>K | B:183 | (22.62, -31.92, 20.44) |
| 12:21636457 | K>Q | B:185 | (25.43, -26.59, 20.00) | |
| 12:21636429 | I>T | B:194 | (18.37, -13.55, 33.26) | |
| 12:21636400 | L>I | B:204 | (22.58, -21.28, 33.75) | |
| 12:21636363 | I>T | B:216 | (27.83, -15.21, 26.84) | |
| 12:21636336 | S>N | B:225 | (22.46, 3.04, 27.74) | |
| 12:21636332 | Q>H | B:226 | (20.04, 5.78, 30.10) | |
| 12:21636324 | H>R | B:229 | (18.13, 5.45, 21.56) | |
| 12:21636316 | rs142679101 | R>G | B:232 | (14.99, -2.03, 25.17) |
| 12:21636313 | rs371196239 | P>T | B:233 | (14.65, -1.41, 31.29) |
| 12:21630868 | rs544551114 | P>A | B:246 | (33.74, -16.00, 36.03) |
| 12:21630862 | rs202110155 COSM172884 |
A>T | B:248 | (32.83, -16.96, 30.47) |
| 12:21630852 | COSM937944 | I>T | B:251 | (30.30, -11.17, 22.04) |
| 12:21630844 | rs200538229 COSM3671031 |
T>A | B:254 | (26.01, -2.76, 17.59) |
| 12:21630837 | rs199922359 | T>N | B:256 | (24.23, 1.95, 16.60) |
| 12:21630825 | H>P | B:260 | (28.91, 8.05, 26.15) | |
| 12:21630823 | V>I | B:261 | (27.08, 4.34, 24.47) | |
| 12:21630816 | rs144665459 | T>M | B:263 | (32.37, 3.24, 28.15) |
| 12:21630806 | Q>H | B:266 | (33.06, -1.87, 29.69) | |
| 12:21630795 | rs149763880 | C>Y | B:270 | (31.00, -5.87, 35.17) |
| 12:21630793 | I>V | B:271 | (33.65, -6.01, 31.37) | |
| 12:21630787 | K>Q | B:273 | (39.25, -5.78, 29.45) | |
| 12:21630783 | C>Y | B:274 | (37.70, -4.31, 25.99) | |
| 12:21630771 | rs372732456 | T>R | B:278 | (34.93, -0.21, 13.94) |
| 12:21630765 | S>F | B:280 | (33.14, 1.02, 7.02) | |
| 12:21630755 | R>S | B:283 | (27.13, -0.43, 0.83) | |
| 12:21630750 | N>I | B:285 | (27.50, -1.54, -4.59) | |
| 12:21630751 | N>D | B:285 | (27.50, -1.54, -4.59) | |
| 12:21630745 | Y>H | B:287 | (24.26, 6.36, -8.72) | |
| 12:21630741 | Y>F | B:288 | (24.34, 7.26, -3.17) | |
| 12:21629925 | V>A | B:290 | (19.16, 14.32, -5.84) | |
| 12:21629922 | COSM241389 | R>Q | B:291 | (15.79, 12.83, -10.09) |
| 12:21629923 | rs140033676 | R>W | B:291 | (15.79, 12.83, -10.09) |
| 12:21629918 | Q>H | B:292 | (12.82, 18.85, -8.69) | |
| 12:21629920 | Q>E | B:292 | (12.82, 18.85, -8.69) | |
| 12:21629914 | P>T | B:294 | (7.20, 16.99, -9.81) | |
| 12:21629905 | rs146080041 | T>A | B:297 | (0.41, 14.51, -8.88) |
| 12:21629896 | rs142858580 | F>I | B:300 | (6.19, 12.03, -9.12) |
| 12:21629875 | L>I | B:307 | (12.34, 4.42, -13.99) | |
| 12:21629862 | R>I | B:311 | (16.89, 2.55, -15.66) | |
| 12:21629860 | Y>H | B:312 | (15.06, 0.05, -12.60) | |
| 12:21629857 | K>E | B:313 | (12.05, -4.51, -16.31) | |
| 12:21629851 | Q>K | B:315 | (14.89, -5.27, -11.68) | |
| 12:21628753 | rs530488411 | I>V | B:319 | (8.58, 3.12, -2.97) |
| 12:21628750 | Y>H | B:320 | (10.83, 3.70, 2.05) | |
| 12:21628746 | rs150889040 | C>Y | B:321 | (6.30, 7.16, 1.96) |
| 12:21628741 | S>P | B:323 | (1.92, 9.01, 5.01) | |
| 12:21628729 | S>P | B:327 | (0.94, 4.37, 1.08) | |
| 12:21628716 | T>M | B:331 | (-0.48, 1.53, -4.49) | |
| 12:21628703 | rs369820039 | Q>H | B:335 | (-2.55, -1.44, -8.84) |
| 12:21628683 | G>D | B:342 | (1.94, -3.06, -2.20) | |
| 12:21628680 | A>V | B:343 | (0.80, -1.78, 1.00) | |
| 12:21628674 | rs200764372 | H>L | B:345 | (0.23, 0.83, 7.01) |
| 12:21628668 | rs148384368 | N>S | B:347 | (-2.92, 0.86, 10.91) |
| 12:21628653 | COSM323022 | D>G | B:352 | (-3.12, -8.11, 5.87) |
| 12:21628650 | rs143405344 | K>R | B:353 | (1.41, -6.83, 8.22) |
| 12:21628647 | T>S | B:354 | (2.42, -11.94, 6.55) | |
| 12:21628648 | T>P | B:354 | (2.42, -11.94, 6.55) | |
| 12:21628639 | rs377215617 | H>Y | B:357 | (7.40, -10.11, 3.69) |
| 12:21628633 | K>Q | B:359 | (3.82, -12.27, -2.40) | |
| 12:21628620 | rs138663409 | N>S | B:363 | (9.63, -12.60, -6.93) |
| 12:21628510 | A>T | B:370 | (6.31, 2.10, 2.60) | |
| 12:21628506 | T>S | B:371 | (5.98, 3.45, 6.18) | |
| 12:21628494 | G>A | B:375 | (12.55, -3.04, 7.99) | |
| 12:21628495 | G>C | B:375 | (12.55, -3.04, 7.99) | |
| 12:21628491 | M>K | B:376 | (12.80, -5.12, 11.72) | |
| 12:21628489 | rs375822444 | G>R | B:377 | (14.09, -8.43, 8.82) |
| 12:21628482 | D>A | B:379 | (16.66, -10.91, 4.32) | |
| 12:21628473 | D>G | B:382 | (17.43, -9.54, -5.15) | |
| 12:21628474 | D>H | B:382 | (17.43, -9.54, -5.15) | |
| 12:21628471 | V>M | B:383 | (17.06, -4.98, -3.66) | |
| 12:21628455 | H>R | B:388 | (13.27, 7.99, -0.69) | |
| 12:21628447 | rs142106831 | M>V | B:391 | (12.59, 14.58, 2.64) |
| 12:21628437 | S>F | B:394 | (17.36, 12.08, 9.45) | |
| 12:21628407 | R>H | B:404 | (16.88, -1.62, 3.94) | |
| 12:21628408 | R>C | B:404 | (16.88, -1.62, 3.94) | |
| 12:21627893 | rs556850507 | D>H | B:413 | (20.33, 2.50, -8.25) |
| 12:21627889 | rs149937760 | C>Y | B:414 | (19.82, 5.23, -4.52) |
| 12:21627865 | D>V | B:422 | (7.94, 17.84, 1.93) | |
| 12:21627862 | rs376138398 | I>T | B:423 | (10.59, 21.54, 4.56) |
| 12:21627860 | rs371875016 | F>V | B:424 | (7.54, 23.78, 5.72) |
| 12:21627845 | rs368679142 | M>V | B:429 | (5.66, 15.08, 12.50) |
| 12:21627836 | M>L | B:432 | (6.96, 17.90, 20.98) | |
| 12:21627830 | N>D | B:434 | (14.44, 19.14, 22.25) | |
| 12:21627827 | rs546158772 | V>M | B:435 | (16.99, 17.86, 18.37) |
| 12:21627823 | G>E | B:436 | (14.35, 18.06, 15.16) | |
| 12:21627775 | rs577044266 | K>R | B:452 | (30.57, 18.27, -2.37) |
| 12:21626571 | R>H | B:454 | (25.94, 13.33, -2.78) | |
| 12:21626572 | rs376377526 | R>C | B:454 | (25.94, 13.33, -2.78) |
| 12:21626568 | COSM4040802 | R>P | B:455 | (30.30, 7.98, -1.24) |
| 12:21626558 | rs151212445 | M>I | B:458 | (27.23, 10.57, 4.21) |
| 12:21626550 | rs201573409 | H>R | B:461 | (26.65, 13.80, 9.63) |
| 12:21626548 | F>V | B:462 | (28.47, 8.92, 10.14) | |
| 12:21626516 | COSM72405 | N>K | B:472 | (35.60, 5.54, -8.24) |
| 12:21626506 | rs200259739 | D>N | B:476 | (25.00, 12.96, -8.89) |
| 12:21626496 | rs201851180 | C>Y | B:479 | (29.21, 12.31, -13.27) |
| 12:21624569 | rs6501 | K>T | B:487 | (23.63, 34.73, -7.83) |
| 12:21624564 | rs146077019 | I>V | B:489 | (21.20, 36.67, -3.15) |
| 12:21624546 | rs6499 | D>H | B:495 | (12.85, 43.04, -1.15) |
| 12:21624533 | I>T | B:499 | (6.76, 41.62, 2.31) | |
| 12:21624513 | L>V | B:506 | (-1.68, 45.11, 8.36) | |
| 12:21624489 | rs550099360 | K>Q | B:514 | (0.09, 33.68, 1.91) |
| 12:21624452 | K>T | B:526 | (-4.22, 43.48, 1.89) | |
| 12:21624446 | R>K | B:528 | (0.27, 42.83, -3.94) | |
| 12:21624441 | A>T | B:530 | (5.39, 49.30, -3.54) | |
| 12:21624435 | V>I | B:532 | (8.87, 44.94, -5.17) | |
| 12:21624425 | rs144775194 | P>L | B:535 | (12.31, 38.06, -10.25) |
| 12:21624422 | T>I | B:536 | (12.87, 36.91, -14.56) | |
| 12:21624413 | rs367657766 | R>P | B:539 | (7.08, 28.85, -7.67) |
| 12:21624398 | rs74067193 | K>M | B:544 | (17.33, 26.63, -4.04) |
| 12:21624396 | rs374053809 | I>F | B:545 | (16.47, 31.57, -2.88) |
| 12:21624387 | rs200465170 | H>Y | B:548 | (20.37, 29.90, 1.53) |
| 12:21624380 | rs374170116 | L>Q | B:550 | (15.23, 28.99, 6.79) |
| 12:21624378 | I>V | B:551 | (19.45, 27.01, 6.56) | |
| 12:21624372 | rs202203602 | Q>K | B:553 | (18.49, 31.55, 10.95) |
| 12:21624368 | rs544884266 | Y>C | B:554 | (19.86, 35.89, 6.94) |
| 12:21624028 | D>H | B:558 | (5.98, 31.05, 14.30) | |
| 12:21624025 | rs150680552 | Y>N | B:559 | (6.20, 26.03, 14.95) |
| 12:21624021 | S>N | B:560 | (0.13, 27.60, 15.57) | |
| 12:21624003 | rs367875234 | T>I | B:566 | (0.74, 21.99, 14.01) |
| 12:21624004 | T>A | B:566 | (0.74, 21.99, 14.01) | |
| 12:21623997 | COSM183026 | S>L | B:568 | (4.22, 26.72, 9.71) |
| 12:21623990 | rs374038779 | L>F | B:570 | (7.77, 32.33, 7.55) |
| 12:21623989 | K>E | B:571 | (8.73, 35.42, 11.48) | |
| 12:21623979 | P>R | B:574 | (18.35, 36.34, 13.89) | |
| 12:21623973 | A>G | B:576 | (19.23, 40.25, 9.87) | |
| 12:21623971 | N>H | B:577 | (20.43, 42.50, 12.80) | |
| 12:21623968 | L>F | B:578 | (24.28, 41.45, 9.90) | |
| 12:21623958 | N>S | B:581 | (26.52, 46.47, 8.00) | |
| 12:21623940 | rs138651198 | T>I | B:587 | (26.63, 34.42, -1.84) |
| 12:21623937 | rs371403952 | M>K | B:588 | (23.53, 30.78, -3.85) |
| 12:21623935 | Q>E | B:589 | (27.14, 27.29, -5.95) | |
| 12:21623932 | V>M | B:590 | (25.08, 28.86, -9.63) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:21644456 | COSM4591239 | E>K | B:71 | (44.96, -18.95, 9.25) |
| 12:21639426 | COSM3710603 | A>V | B:163 | (6.33, -15.65, 27.55) |
| 12:21630862 | COSM172884 | A>T | B:248 | (32.83, -16.96, 30.47) |
| 12:21629856 | COSM1676772 | K>I | B:313 | (12.05, -4.51, -16.31) |
| 12:21627855 | COSM3704000 | R>S | B:425 | (4.36, 17.21, 4.78) |
| 12:21627799 | COSM2005117 | V>A | B:444 | (17.78, 20.54, 3.66) |