General Structure Information
| PDB ID | 3thx |
| HGNC Gene Label(s) | MSH3 |
| Structure Name | human mutsbeta complexed with an idl of 3 bases (loop3) and adp |
| Resolution | 2.7Å |
| Reference | AUTH S.GUPTA,M.GELLERT,W.YANGTITL MECHANISM OF MISMATCH RECOGNITION REVEALED BY HUMAN MUTSBETATITL 2 BOUND TO UNPAIRED DNA LOOPSREF NAT.STRUCT.MOL.BIOL. V. 19 72 2012REFN ISSN 1545-9993PMID 22179786DOI 10.1038/NSMB.2175 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 852 |
| Number Of SNVs | 251 |
| Number Of Permutations | 95217 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.008 |
| p-value | 0.435 |
COSMIC
| Number Of Residues | 852 |
| Number Of SNVs | 6 |
| Number Of Permutations | 4604 |
| Optimal Distance Threshold | 51.0 |
| K Statistic | 0.267 |
| p-value | 0.066 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 251 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 59.0 |
| K Statistic | -0.36 |
| p-value | 0.049 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:79966012 | rs572251871 | K>E | B:217 | (-45.49, 7.58, 18.84) |
| 5:79966016 | S>I | B:218 | (-46.66, 5.30, 22.01) | |
| 5:79966022 | Y>F | B:220 | (-41.00, 5.35, 19.47) | |
| 5:79966025 | COSM3139172 COSM3139171 |
T>M | B:221 | (-39.39, 5.99, 24.83) |
| 5:79966028 | rs201748817 | P>L | B:222 | (-40.10, 9.29, 26.50) |
| 5:79966034 | E>V | B:224 | (-36.71, 6.67, 22.06) | |
| 5:79966045 | I>V | B:228 | (-36.38, 11.43, 16.78) | |
| 5:79966047 | rs375321647 | I>M | B:228 | (-36.38, 11.43, 16.78) |
| 5:79966065 | H>Q | B:234 | (-28.44, 18.08, 13.74) | |
| 5:79966069 | rs558080525 | D>N | B:236 | (-25.06, 15.55, 9.71) |
| 5:79966082 | COSM1438886 | C>F | B:240 | (-23.62, 12.59, 22.26) |
| 5:79966084 | COSM266958 | V>M | B:241 | (-27.43, 11.94, 24.68) |
| 5:79966115 | rs142201450 | G>A | B:251 | (-28.97, 3.66, 16.46) |
| 5:79966117 | E>K | B:252 | (-26.70, 4.29, 13.88) | |
| 5:79966121 | D>G | B:253 | (-25.43, 7.07, 16.14) | |
| 5:79968065 | I>M | B:256 | (-21.17, 4.24, 14.52) | |
| 5:79968067 | A>V | B:257 | (-20.13, 3.50, 18.70) | |
| 5:79968073 | R>Q | B:259 | (-18.40, 0.29, 13.70) | |
| 5:79968078 | rs376434836 | L>F | B:261 | (-15.86, 3.75, 20.47) |
| 5:79968087 | rs186924833 | Y>H | B:264 | (-20.17, -4.42, 24.35) |
| 5:79968088 | Y>C | B:264 | (-20.17, -4.42, 24.35) | |
| 5:79968109 | F>C | B:271 | (-33.90, 3.15, 18.62) | |
| 5:79968115 | rs202184623 | T>I | B:273 | (-28.07, 1.26, 23.05) |
| 5:79968142 | F>C | B:282 | (-11.95, 13.41, 26.61) | |
| 5:79968153 | R>C | B:286 | (-10.31, 14.21, 20.53) | |
| 5:79968154 | R>H | B:286 | (-10.31, 14.21, 20.53) | |
| 5:79968156 | rs201216791 | R>C | B:287 | (-12.12, 7.07, 19.75) |
| 5:79968157 | R>H | B:287 | (-12.12, 7.07, 19.75) | |
| 5:79968177 | K>E | B:294 | (-20.66, 16.35, 12.12) | |
| 5:79968179 | K>N | B:294 | (-20.66, 16.35, 12.12) | |
| 5:79968573 | K>M | B:299 | (-25.23, 18.94, 27.42) | |
| 5:79968603 | rs149662421 | I>T | B:309 | (-39.86, 23.82, 42.28) |
| 5:79968609 | D>G | B:311 | (-43.31, 24.31, 35.22) | |
| 5:79968629 | S>T | B:318 | (-34.62, 19.39, 29.27) | |
| 5:79968632 | R>W | B:319 | (-32.33, 16.28, 27.32) | |
| 5:79968633 | rs201336852 | R>Q | B:319 | (-32.33, 16.28, 27.32) |
| 5:79968645 | A>D | B:323 | (-22.04, 21.29, 20.47) | |
| 5:79968647 | L>F | B:324 | (-21.33, 20.61, 16.51) | |
| 5:79968651 | Y>F | B:325 | (-17.39, 19.27, 18.87) | |
| 5:79968662 | T>A | B:329 | (-14.16, 22.21, 15.29) | |
| 5:79970811 | P>R | B:337 | (-8.20, 17.59, 28.19) | |
| 5:79970818 | COSM3618322 COSM3618321 |
I>M | B:339 | (-1.98, 17.01, 29.23) |
| 5:79970837 | N>D | B:346 | (-0.36, 21.40, 27.58) | |
| 5:79970854 | M>I | B:351 | (-4.16, 14.38, 15.84) | |
| 5:79970859 | rs373336770 | D>A | B:353 | (2.11, 15.18, 10.90) |
| 5:79970862 | rs562793293 | T>I | B:354 | (0.20, 18.93, 9.59) |
| 5:79970876 | L>F | B:359 | (-11.83, 24.97, 7.47) | |
| 5:79970896 | rs146703236 | N>K | B:365 | (-16.29, 32.44, -11.09) |
| 5:79970929 | N>K | B:376 | (-9.32, 28.64, -17.33) | |
| 5:79970930 | rs71539689 | I>V | B:377 | (-11.59, 28.57, -13.12) |
| 5:79970934 | rs140543135 | F>Y | B:378 | (-11.00, 33.66, -10.29) |
| 5:79974749 | COSM1671724 COSM1671723 |
V>M | B:384 | (-10.36, 28.93, 9.05) |
| 5:79974762 | T>I | B:388 | (-5.10, 29.37, 16.13) | |
| 5:79974769 | E>D | B:390 | (-4.48, 31.36, 12.39) | |
| 5:79974782 | S>G | B:395 | (-7.42, 35.27, -5.18) | |
| 5:79974810 | E>G | B:404 | (-2.09, 27.79, -8.64) | |
| 5:79974821 | rs143211109 | R>W | B:408 | (-2.85, 27.89, -3.05) |
| 5:79974822 | COSM3413896 COSM3413895 |
R>Q | B:408 | (-2.85, 27.89, -3.05) |
| 5:79974830 | rs55660516 | S>G | B:411 | (0.52, 24.84, 2.08) |
| 5:79974833 | L>V | B:412 | (-3.16, 25.32, 4.28) | |
| 5:79974849 | L>P | B:417 | (-12.59, 20.68, 2.65) | |
| 5:79974858 | P>L | B:420 | (-19.87, 23.56, -2.97) | |
| 5:79974861 | S>L | B:421 | (-23.09, 20.72, -3.95) | |
| 5:79974867 | L>W | B:423 | (-17.72, 21.84, -7.78) | |
| 5:79974868 | rs373680329 | L>F | B:423 | (-17.72, 21.84, -7.78) |
| 5:79974872 | E>K | B:425 | (-15.70, 17.76, -14.48) | |
| 5:79974885 | rs35121792 | A>V | B:429 | (-10.63, 15.50, -9.31) |
| 5:79974899 | A>T | B:434 | (-6.77, 14.63, -1.74) | |
| 5:79974906 | S>F | B:436 | (-7.29, 9.10, -1.75) | |
| 5:79974909 | V>A | B:437 | (-3.54, 11.04, -0.42) | |
| 5:79974912 | S>T | B:438 | (-5.65, 9.94, 2.95) | |
| 5:80021277 | Q>R | B:440 | (-8.47, 6.82, 8.35) | |
| 5:80021299 | E>D | B:447 | (-19.46, 19.65, 5.00) | |
| 5:80021301 | R>M | B:448 | (-20.21, 18.76, -0.32) | |
| 5:80021307 | rs185229240 | D>V | B:450 | (-26.71, 23.99, -1.23) |
| 5:80021309 | rs535750004 | N>D | B:451 | (-24.64, 25.92, -4.50) |
| 5:80021310 | rs373930327 | N>T | B:451 | (-24.64, 25.92, -4.50) |
| 5:80021312 | rs201589579 | I>V | B:452 | (-28.15, 28.61, -2.43) |
| 5:80021325 | rs35009542 | Y>C | B:456 | (-21.75, 38.14, -5.17) |
| 5:80021327 | S>G | B:457 | (-26.56, 37.82, -4.09) | |
| 5:80021334 | A>V | B:459 | (-23.13, 36.11, -0.10) | |
| 5:80021336 | F>L | B:460 | (-22.49, 41.48, -0.74) | |
| 5:80021342 | A>T | B:462 | (-24.06, 37.71, 4.55) | |
| 5:80021348 | T>A | B:464 | (-22.93, 42.95, 4.58) | |
| 5:80021353 | E>D | B:465 | (-26.41, 40.39, 7.69) | |
| 5:80021354 | F>L | B:466 | (-20.81, 38.79, 10.28) | |
| 5:80021357 | Y>H | B:467 | (-18.70, 41.76, 9.09) | |
| 5:80021361 | rs534548594 | A>V | B:468 | (-21.21, 46.47, 12.08) |
| 5:80024693 | V>I | B:484 | (-13.95, 44.73, 2.30) | |
| 5:80024696 | N>D | B:485 | (-13.37, 45.34, -2.76) | |
| 5:80024697 | N>T | B:485 | (-13.37, 45.34, -2.76) | |
| 5:80024705 | K>E | B:488 | (-17.15, 38.31, -7.06) | |
| 5:80024708 | P>A | B:489 | (-14.89, 34.12, -5.42) | |
| 5:80024718 | C>S | B:492 | (-18.90, 33.28, -2.20) | |
| 5:80024730 | A>G | B:496 | (-19.97, 29.69, 3.87) | |
| 5:80024735 | I>V | B:498 | (-20.04, 33.12, 8.17) | |
| 5:80024738 | rs146768828 | K>E | B:499 | (-24.01, 28.78, 7.26) |
| 5:80024739 | K>R | B:499 | (-24.01, 28.78, 7.26) | |
| 5:80024744 | L>V | B:501 | (-17.90, 28.91, 11.72) | |
| 5:80024763 | E>G | B:507 | (-19.30, 32.93, 14.78) | |
| 5:80024768 | M>V | B:509 | (-12.71, 33.37, 14.08) | |
| 5:80024781 | P>L | B:513 | (-11.22, 41.66, 9.20) | |
| 5:80037305 | K>E | B:522 | (4.01, 37.83, -5.26) | |
| 5:80037320 | T>A | B:527 | (6.80, 31.07, -6.15) | |
| 5:80037321 | T>I | B:527 | (6.80, 31.07, -6.15) | |
| 5:80037333 | T>I | B:531 | (5.13, 20.11, -7.76) | |
| 5:80037343 | R>S | B:534 | (4.72, 17.35, -4.22) | |
| 5:80040326 | T>I | B:543 | (8.34, 8.15, 1.02) | |
| 5:80040332 | M>T | B:545 | (3.34, 11.54, 2.69) | |
| 5:80040341 | K>R | B:548 | (11.14, 11.58, 9.40) | |
| 5:80040359 | V>A | B:554 | (16.19, 20.03, 9.21) | |
| 5:80040376 | T>A | B:560 | (6.85, 26.49, 21.03) | |
| 5:80040389 | R>K | B:564 | (6.32, 23.25, 15.49) | |
| 5:80040391 | R>W | B:565 | (1.46, 26.62, 14.97) | |
| 5:80040392 | R>Q | B:565 | (1.46, 26.62, 14.97) | |
| 5:80040395 | K>R | B:566 | (5.56, 31.34, 12.75) | |
| 5:80040433 | R>W | B:579 | (15.19, 46.12, 4.75) | |
| 5:80057378 | R>W | B:584 | (14.33, 36.23, 9.22) | |
| 5:80057379 | R>Q | B:584 | (14.33, 36.23, 9.22) | |
| 5:80057387 | rs370231558 | A>P | B:587 | (19.63, 37.47, 14.69) |
| 5:80057388 | rs148162799 | A>V | B:587 | (19.63, 37.47, 14.69) |
| 5:80057393 | S>P | B:589 | (24.29, 35.81, 14.00) | |
| 5:80057408 | S>A | B:594 | (26.63, 36.09, 22.50) | |
| 5:80057417 | S>G | B:597 | (23.00, 35.73, 29.67) | |
| 5:80057418 | rs34168832 | S>N | B:597 | (23.00, 35.73, 29.67) |
| 5:80057426 | G>C | B:600 | (19.39, 31.94, 27.78) | |
| 5:80057435 | E>K | B:603 | (16.32, 28.94, 25.54) | |
| 5:80057441 | rs368729300 COSM1695915 COSM1695914 |
H>D | B:605 | (11.92, 32.32, 29.92) |
| 5:80057447 | rs372874549 | R>C | B:607 | (12.42, 25.01, 29.18) |
| 5:80057448 | R>H | B:607 | (12.42, 25.01, 29.18) | |
| 5:80057459 | rs200337887 | D>N | B:611 | (-0.99, 25.90, 22.71) |
| 5:80057463 | I>R | B:612 | (-0.71, 30.13, 25.00) | |
| 5:80057471 | G>R | B:615 | (-6.38, 29.00, 24.88) | |
| 5:80057478 | C>Y | B:617 | (-8.95, 30.74, 21.33) | |
| 5:80057482 | S>R | B:618 | (-11.07, 28.47, 24.31) | |
| 5:80057490 | H>P | B:621 | (-14.62, 31.09, 20.88) | |
| 5:80063759 | T>I | B:626 | (-11.76, 27.01, 35.34) | |
| 5:80063772 | F>L | B:630 | (-5.15, 29.69, 36.89) | |
| 5:80063792 | Y>C | B:637 | (2.07, 37.47, 36.13) | |
| 5:80063821 | I>V | B:647 | (13.24, 45.24, 29.65) | |
| 5:80063824 | P>S | B:648 | (16.96, 45.52, 31.24) | |
| 5:80063851 | D>Y | B:657 | (16.45, 46.58, 15.16) | |
| 5:80063856 | rs574753145 | L>F | B:658 | (13.75, 41.73, 14.49) |
| 5:80063860 | rs35045151 | R>W | B:660 | (15.97, 45.73, 20.14) |
| 5:80063861 | rs372048303 | R>Q | B:660 | (15.97, 45.73, 20.14) |
| 5:80063866 | V>I | B:662 | (9.87, 41.28, 19.35) | |
| 5:80063871 | rs139593361 | I>M | B:663 | (11.56, 40.81, 23.23) |
| 5:80063890 | L>V | B:670 | (1.43, 40.16, 28.61) | |
| 5:80063896 | rs115198722 | P>S | B:672 | (-3.64, 43.00, 30.65) |
| 5:80063899 | rs145657887 | V>L | B:673 | (-2.81, 39.10, 32.59) |
| 5:80063903 | E>V | B:674 | (-1.46, 41.43, 37.22) | |
| 5:80063921 | L>P | B:680 | (-9.18, 33.95, 39.91) | |
| 5:80063924 | rs575779178 | N>S | B:681 | (-9.39, 30.76, 44.32) |
| 5:80063930 | Q>R | B:683 | (-8.19, 26.42, 44.00) | |
| 5:80063939 | K>R | B:686 | (-6.37, 24.44, 40.19) | |
| 5:80064656 | rs556074597 | V>A | B:687 | (-11.58, 22.37, 41.45) |
| 5:80064683 | D>G | B:696 | (-13.59, 40.37, 46.20) | |
| 5:80064694 | rs1805354 | F>L | B:700 | (-21.24, 39.94, 44.43) |
| 5:80064697 | P>A | B:701 | (-24.41, 41.23, 45.39) | |
| 5:80064724 | I>F | B:710 | (-26.46, 28.34, 51.10) | |
| 5:80064726 | I>M | B:710 | (-26.46, 28.34, 51.10) | |
| 5:80064731 | G>A | B:712 | (-27.93, 29.11, 57.06) | |
| 5:80064733 | V>F | B:713 | (-29.91, 26.43, 55.48) | |
| 5:80064739 | D>Y | B:715 | (-26.27, 27.19, 60.23) | |
| 5:80064742 | rs200612739 COSM3139225 COSM3139224 |
E>K | B:716 | (-31.30, 26.38, 59.76) |
| 5:80064745 | I>L | B:717 | (-29.61, 21.42, 59.08) | |
| 5:80064749 | rs148896355 | R>Q | B:718 | (-24.72, 21.28, 60.96) |
| 5:80064754 | rs145353158 | H>D | B:720 | (-32.84, 19.54, 63.82) |
| 5:80064758 | L>S | B:721 | (-28.03, 17.36, 65.62) | |
| 5:80064763 | rs369843843 | E>K | B:723 | (-33.98, 19.25, 69.02) |
| 5:80064764 | E>A | B:723 | (-33.98, 19.25, 69.02) | |
| 5:80064773 | K>R | B:726 | (-33.64, 16.17, 72.59) | |
| 5:80064793 | rs373556898 | A>T | B:733 | (-25.65, 12.01, 67.43) |
| 5:80064822 | rs527397856 | E>D | B:742 | (-25.23, 16.06, 52.80) |
| 5:80071521 | rs200819607 | I>M | B:745 | (-29.21, 10.01, 61.37) |
| 5:80071540 | rs376555325 | V>L | B:752 | (-35.05, 0.78, 63.62) |
| 5:80071549 | rs146657445 | I>L | B:755 | (-36.58, 5.68, 64.08) |
| 5:80074547 | A>G | B:767 | (-26.14, -3.10, 59.28) | |
| 5:80074556 | rs199791286 | R>H | B:770 | (-27.70, 5.47, 56.15) |
| 5:80074562 | H>L | B:772 | (-33.10, 12.52, 55.96) | |
| 5:80074568 | P>H | B:774 | (-39.30, 15.43, 58.83) | |
| 5:80074571 | F>Y | B:775 | (-36.33, 20.25, 59.63) | |
| 5:80074577 | V>A | B:777 | (-36.62, 16.21, 53.90) | |
| 5:80074580 | rs139119736 | E>G | B:778 | (-38.48, 21.20, 53.79) |
| 5:80074586 | rs10067975 | Y>C | B:780 | (-30.41, 18.18, 51.67) |
| 5:80074588 | R>G | B:781 | (-36.66, 19.56, 48.15) | |
| 5:80074603 | L>F | B:786 | (-30.19, 27.61, 47.23) | |
| 5:80074606 | rs372431614 | R>W | B:787 | (-26.02, 23.55, 47.33) |
| 5:80074613 | Q>R | B:789 | (-29.91, 29.45, 41.22) | |
| 5:80074616 | rs555670202 | L>R | B:790 | (-24.83, 29.59, 43.44) |
| 5:80074624 | rs56084344 | D>N | B:793 | (-26.01, 32.81, 39.76) |
| 5:80083386 | rs150446804 | K>R | B:804 | (-15.37, 41.99, 31.37) |
| 5:80083390 | F>L | B:805 | (-9.75, 38.09, 29.19) | |
| 5:80083398 | H>R | B:808 | (-7.46, 42.68, 27.05) | |
| 5:80083404 | H>R | B:810 | (-7.01, 40.39, 19.03) | |
| 5:80083406 | rs369296425 | S>A | B:811 | (-3.10, 42.19, 22.89) |
| 5:80083413 | C>Y | B:813 | (-2.46, 37.04, 20.39) | |
| 5:80083424 | H>Y | B:817 | (1.61, 35.78, 17.17) | |
| 5:80083428 | rs138339194 | H>R | B:818 | (5.82, 39.21, 19.09) |
| 5:80083445 | C>G | B:824 | (11.79, 30.78, 14.96) | |
| 5:80083490 | rs371547241 | R>G | B:839 | (25.55, 35.31, 6.83) |
| 5:80088565 | rs200185323 | E>Q | B:844 | (17.74, 42.01, -5.05) |
| 5:80088566 | E>G | B:844 | (17.74, 42.01, -5.05) | |
| 5:80088608 | rs187411724 | I>T | B:858 | (21.43, 13.85, 2.78) |
| 5:80088611 | rs201676445 | D>V | B:859 | (24.05, 16.87, 6.21) |
| 5:80088614 | V>A | B:860 | (21.13, 15.12, 9.17) | |
| 5:80088623 | COSM1329416 COSM3828539 COSM3828538 |
G>E | B:863 | (27.60, 13.81, 6.17) |
| 5:80088631 | rs146185367 | D>N | B:866 | (32.07, 8.09, 1.18) |
| 5:80088660 | L>F | B:875 | (24.36, 29.73, -11.26) | |
| 5:80109406 | rs546532182 | D>N | B:878 | (29.13, 37.60, -13.75) |
| 5:80109419 | V>E | B:882 | (22.36, 27.33, -17.85) | |
| 5:80109421 | M>V | B:883 | (23.87, 23.67, -15.00) | |
| 5:80109426 | I>M | B:884 | (23.45, 21.16, -19.60) | |
| 5:80109442 | M>V | B:890 | (23.18, 8.96, -9.50) | |
| 5:80109451 | COSM3856623 COSM3856622 |
K>Q | B:893 | (21.51, 13.39, -10.99) |
| 5:80109467 | K>R | B:898 | (16.78, 17.99, -4.88) | |
| 5:80109469 | Q>E | B:899 | (22.27, 21.01, -3.12) | |
| 5:80109478 | L>V | B:902 | (16.90, 22.75, -0.65) | |
| 5:80109479 | rs41545019 | L>W | B:902 | (16.90, 22.75, -0.65) |
| 5:80109487 | rs148633216 | I>V | B:905 | (14.76, 27.77, -0.03) |
| 5:80109488 | I>T | B:905 | (14.76, 27.77, -0.03) | |
| 5:80109490 | rs200945869 | M>L | B:906 | (17.84, 27.31, 3.87) |
| 5:80109492 | M>I | B:906 | (17.84, 27.31, 3.87) | |
| 5:80109498 | rs377380366 | Q>H | B:908 | (15.27, 33.37, 0.09) |
| 5:80109500 | I>T | B:909 | (13.99, 31.23, 5.32) | |
| 5:80109501 | I>M | B:909 | (13.99, 31.23, 5.32) | |
| 5:80109509 | rs190723980 | Y>C | B:912 | (23.69, 30.57, 9.32) |
| 5:80109514 | P>S | B:914 | (24.47, 23.57, 4.18) | |
| 5:80109521 | E>G | B:916 | (33.18, 26.06, 3.09) | |
| 5:80109523 | E>K | B:917 | (31.99, 30.12, 0.92) | |
| 5:80109527 | A>G | B:918 | (27.33, 31.42, 0.34) | |
| 5:80109532 | I>V | B:920 | (21.89, 33.65, -2.50) | |
| 5:80109533 | I>T | B:920 | (21.89, 33.65, -2.50) | |
| 5:80109547 | G>C | B:925 | (11.38, 31.36, -7.76) | |
| 5:80109548 | G>D | B:925 | (11.38, 31.36, -7.76) | |
| 5:80109557 | T>R | B:928 | (10.26, 21.68, -10.29) | |
| 5:80149992 | rs528928531 | M>L | B:944 | (-0.44, 15.76, -21.54) |
| 5:80150011 | T>R | B:950 | (6.70, 22.59, -18.84) | |
| 5:80150013 | A>P | B:951 | (3.87, 25.36, -19.70) | |
| 5:80150026 | R>K | B:955 | (2.73, 30.44, -19.55) | |
| 5:80150048 | L>F | B:962 | (15.75, 28.07, -9.98) | |
| 5:80150052 | I>V | B:964 | (14.96, 22.36, -11.93) | |
| 5:80150058 | rs375949196 | D>Y | B:966 | (14.25, 15.77, -15.04) |
| 5:80150077 | T>M | B:972 | (8.10, 10.77, -27.15) | |
| 5:80150100 | I>V | B:980 | (10.27, 19.22, -26.93) | |
| 5:80150104 | A>V | B:981 | (14.26, 19.86, -25.21) | |
| 5:80150107 | Y>C | B:982 | (18.03, 22.39, -28.75) | |
| 5:80150112 | T>A | B:984 | (12.56, 24.27, -23.92) | |
| 5:80150135 | rs139205893 | D>E | B:991 | (13.71, 34.20, -24.34) |
| 5:80160654 | V>A | B:999 | (18.38, 16.97, -16.25) | |
| 5:80160666 | rs371367632 | P>L | B:1003 | (23.23, 14.05, -26.46) |
| 5:80160700 | H>Q | B:1014 | (30.28, 33.42, -22.01) | |
| 5:80160703 | rs147640909 | Q>H | B:1015 | (25.26, 32.21, -21.44) |
| 5:80160711 | N>S | B:1018 | (27.96, 20.80, -20.29) | |
| 5:80160714 | Y>C | B:1019 | (28.54, 20.99, -15.62) | |
| 5:80160730 | L>F | B:1024 | (34.00, 6.29, -8.20) | |
| 5:80160735 | S>T | B:1026 | (33.92, -0.59, -5.98) | |
| 5:80168970 | rs188074706 | L>F | B:1047 | (32.30, 10.23, -5.36) |
| 5:80168982 | T>A | B:1051 | (32.13, 16.90, -13.08) | |
| 5:80168985 | R>G | B:1052 | (32.75, 21.74, -16.67) | |
| 5:80168988 | G>R | B:1053 | (31.09, 17.77, -18.70) | |
| 5:80168992 | I>T | B:1054 | (29.39, 15.77, -21.83) | |
| 5:80168994 | A>T | B:1055 | (28.87, 12.10, -20.09) | |
| 5:80169001 | COSM739068 COSM1647843 |
R>T | B:1057 | (30.45, 7.03, -23.15) |
| 5:80169006 | Y>H | B:1059 | (29.62, 7.37, -16.39) | |
| 5:80169007 | Y>C | B:1059 | (29.62, 7.37, -16.39) | |
| 5:80169015 | N>D | B:1062 | (31.11, 0.83, -14.71) | |
| 5:80169030 | rs372732917 | A>T | B:1067 | (24.42, -5.88, -12.03) |
| 5:80169034 | D>V | B:1068 | (25.56, -9.89, -13.21) | |
| 5:80169088 | rs180975253 | G>E | B:1086 | (27.68, 8.58, -35.67) |
| 5:80169094 | rs377191897 | I>T | B:1088 | (22.66, 10.53, -36.12) |
| 5:80169098 | N>K | B:1089 | (26.37, 12.96, -35.45) | |
| 5:80169100 | rs545543643 | T>M | B:1090 | (27.65, 11.72, -40.20) |
| 5:80171590 | A>V | B:1099 | (22.98, 24.35, -46.07) | |
| 5:80171602 | rs576204286 COSM1070709 |
T>M | B:1103 | (23.92, 30.28, -49.18) |
| 5:80171605 | M>T | B:1104 | (27.93, 30.35, -49.74) | |
| 5:80171606 | rs145769847 | M>I | B:1104 | (27.93, 30.35, -49.74) |
| 5:80171613 | rs200343553 | A>S | B:1107 | (35.39, 33.81, -51.31) |
| 5:80171634 | T>A | B:1114 | (36.13, 26.50, -44.06) | |
| 5:80171646 | N>D | B:1118 | (37.94, 22.96, -39.32) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:80057414 | COSM1754350 | S>P | B:596 | (24.83, 37.66, 26.43) |
| 5:80057441 | COSM1695915 | H>Y | B:605 | (11.92, 32.32, 29.92) |
| 5:80071530 | COSM282884 | K>N | B:748 | (-26.89, -0.12, 64.29) |
| 5:80074604 | COSM3139239 | L>H | B:786 | (-30.19, 27.61, 47.23) |
| 5:80109433 | COSM1671727 | G>R | B:887 | (23.78, 10.89, -17.00) |
| 5:80169086 | COSM312952 | E>D | B:1085 | (26.77, 8.90, -31.41) |