General Structure Information
| PDB ID | 3i4r |
| HGNC Gene Label(s) | NUP133 |
| Structure Name | nup107(aa658-925)/nup133(aa517-1156) complex, h.sapiens |
| Resolution | 3.53Å |
| Reference | AUTH J.R.WHITTLE,T.U.SCHWARTZTITL ARCHITECTURAL NUCLEOPORINS NUP157/170 AND NUP133TITL 2 ARE STRUCTURALLY RELATED AND DESCEND FROM A SECONDTITL 3 ANCESTRAL ELEMENT.REF J.BIOL.CHEM. V. 284 28442 2009REFN ISSN 0021-9258PMID 19674973DOI 10.1074/JBC.M109.023580 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 528 |
| Number Of SNVs | 122 |
| Number Of Permutations | 79482 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.073 |
| p-value | 0.884 |
COSMIC
| Number Of Residues | 528 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1231 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.167 |
| p-value | 0.701 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 122 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.329 |
| p-value | 0.754 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:229619828 | L>P | B:522 | (4.29, 74.78, 51.56) | |
| 1:229613496 | G>D | B:535 | (17.44, 83.91, 42.42) | |
| 1:229613497 | G>S | B:535 | (17.44, 83.91, 42.42) | |
| 1:229613494 | H>Y | B:536 | (19.26, 80.87, 43.67) | |
| 1:229613491 | A>S | B:537 | (21.46, 81.09, 46.37) | |
| 1:229613482 | rs568176929 | V>L | B:540 | (19.77, 76.50, 47.53) |
| 1:229613476 | D>N | B:542 | (16.16, 76.10, 51.51) | |
| 1:229613464 | rs376085912 | S>A | B:546 | (15.47, 70.54, 53.11) |
| 1:229613457 | H>P | B:548 | (18.84, 68.13, 56.80) | |
| 1:229613458 | H>Y | B:548 | (18.84, 68.13, 56.80) | |
| 1:229613433 | rs143135859 | E>V | B:556 | (5.54, 59.20, 53.54) |
| 1:229613399 | rs142046957 | D>E | B:567 | (-0.16, 72.16, 46.41) |
| 1:229613401 | COSM679174 | D>H | B:567 | (-0.16, 72.16, 46.41) |
| 1:229613395 | M>L | B:569 | (0.51, 72.99, 41.08) | |
| 1:229613383 | P>S | B:573 | (-3.76, 76.55, 38.36) | |
| 1:229611448 | rs530241836 | I>M | B:596 | (-7.65, 88.90, 30.20) |
| 1:229611425 | K>R | B:604 | (-0.08, 80.04, 33.81) | |
| 1:229611399 | rs150406381 | D>N | B:613 | (12.48, 74.45, 36.27) |
| 1:229606550 | V>A | B:618 | (16.55, 72.45, 43.34) | |
| 1:229606536 | rs376867486 | R>C | B:623 | (8.22, 62.33, 45.04) |
| 1:229606529 | G>D | B:625 | (1.27, 60.39, 44.99) | |
| 1:229606470 | E>K | B:645 | (-0.39, 70.56, 32.02) | |
| 1:229606463 | L>Q | B:647 | (-5.43, 70.80, 31.76) | |
| 1:229606455 | COSM4029323 | A>T | B:650 | (-7.43, 72.50, 27.79) |
| 1:229606449 | V>I | B:652 | (-6.48, 77.21, 26.14) | |
| 1:229606430 | COSM3369598 | S>Y | B:658 | (-15.50, 81.65, 22.34) |
| 1:229606427 | R>L | B:659 | (-19.30, 80.50, 21.65) | |
| 1:229606428 | rs201748818 | R>W | B:659 | (-19.30, 80.50, 21.65) |
| 1:229606403 | A>V | B:667 | (-23.19, 77.95, 32.80) | |
| 1:229606404 | rs569731659 | A>T | B:667 | (-23.19, 77.95, 32.80) |
| 1:229606401 | I>V | B:668 | (-24.77, 74.73, 33.21) | |
| 1:229606395 | I>L | B:670 | (-21.21, 75.84, 37.10) | |
| 1:229606373 | rs143513043 | Y>C | B:677 | (-20.87, 85.43, 42.21) |
| 1:229606374 | rs574823773 | Y>H | B:677 | (-20.87, 85.43, 42.21) |
| 1:229606366 | I>M | B:679 | (-20.28, 90.59, 41.33) | |
| 1:229602497 | rs201432962 | Q>E | B:695 | (-16.41, 68.61, 34.36) |
| 1:229602487 | rs374413292 | T>I | B:698 | (-19.63, 65.77, 31.34) |
| 1:229602488 | rs148856535 | T>A | B:698 | (-19.63, 65.77, 31.34) |
| 1:229602457 | rs558744112 | E>G | B:708 | (-31.06, 66.71, 21.27) |
| 1:229602421 | E>G | B:720 | (-29.21, 72.62, 12.56) | |
| 1:229602417 | W>C | B:721 | (-29.36, 69.91, 15.12) | |
| 1:229602400 | N>S | B:727 | (-19.46, 71.49, 17.21) | |
| 1:229601261 | COSM1158700 | M>I | B:735 | (-9.01, 68.97, 23.58) |
| 1:229601256 | rs202163820 | Q>R | B:737 | (-5.27, 67.09, 20.55) |
| 1:229601250 | A>V | B:739 | (-3.13, 66.50, 25.46) | |
| 1:229601248 | S>R | B:740 | (-1.52, 64.73, 22.64) | |
| 1:229601239 | rs556067201 | R>C | B:743 | (2.96, 64.47, 25.70) |
| 1:229600595 | COSM210261 | T>M | B:776 | (-16.07, 60.00, 33.39) |
| 1:229600596 | T>A | B:776 | (-16.07, 60.00, 33.39) | |
| 1:229600583 | R>H | B:780 | (-18.27, 60.83, 27.72) | |
| 1:229600584 | R>C | B:780 | (-18.27, 60.83, 27.72) | |
| 1:229600577 | H>R | B:782 | (-18.94, 56.11, 24.89) | |
| 1:229600569 | V>F | B:785 | (-20.16, 57.24, 19.92) | |
| 1:229600562 | rs200267062 | K>R | B:787 | (-24.55, 59.84, 19.33) |
| 1:229600541 | rs377066365 | D>G | B:794 | (-29.76, 60.98, 9.60) |
| 1:229600533 | L>F | B:797 | (-23.03, 62.17, 3.25) | |
| 1:229600529 | COSM1501222 | R>Q | B:798 | (-20.36, 64.41, 4.03) |
| 1:229600521 | rs139160684 | V>M | B:801 | (-17.80, 61.45, 7.47) |
| 1:229600517 | T>N | B:802 | (-16.76, 64.20, 9.57) | |
| 1:229600515 | rs373640878 | E>K | B:803 | (-18.32, 62.50, 12.41) |
| 1:229600510 | Q>H | B:804 | (-16.38, 59.55, 11.41) | |
| 1:229600496 | rs528368389 | I>S | B:809 | (-10.01, 60.80, 16.45) |
| 1:229600488 | F>V | B:812 | (-7.41, 56.92, 18.94) | |
| 1:229600466 | Q>R | B:819 | (-1.64, 51.27, 25.95) | |
| 1:229600443 | S>G | B:827 | (4.53, 41.81, 36.60) | |
| 1:229600436 | rs142147117 | R>Q | B:829 | (-0.36, 41.70, 39.75) |
| 1:229600437 | R>W | B:829 | (-0.36, 41.70, 39.75) | |
| 1:229600421 | N>S | B:834 | (-5.31, 40.22, 32.31) | |
| 1:229600412 | M>T | B:837 | (-7.04, 43.32, 28.57) | |
| 1:229600406 | Y>C | B:839 | (-11.52, 45.48, 28.81) | |
| 1:229600386 | L>F | B:846 | (-17.18, 47.89, 20.38) | |
| 1:229600380 | S>T | B:848 | (-15.28, 47.24, 15.57) | |
| 1:229600377 | P>S | B:849 | (-18.75, 46.89, 15.23) | |
| 1:229600371 | L>F | B:851 | (-17.03, 50.27, 12.14) | |
| 1:229599414 | rs35944758 | G>D | B:854 | (-18.80, 51.88, 8.22) |
| 1:229599415 | G>S | B:854 | (-18.80, 51.88, 8.22) | |
| 1:229599408 | Y>C | B:856 | (-13.12, 50.58, 5.87) | |
| 1:229599394 | S>A | B:861 | (-6.63, 53.67, 10.98) | |
| 1:229599385 | COSM136222 | E>K | B:864 | (-2.96, 50.89, 13.45) |
| 1:229599382 | rs534810481 | K>E | B:865 | (-3.95, 52.52, 16.42) |
| 1:229599372 | D>V | B:868 | (-3.72, 44.76, 16.29) | |
| 1:229599362 | rs138312761 | I>M | B:871 | (-10.38, 40.60, 14.30) |
| 1:229599348 | C>Y | B:876 | (-12.90, 43.48, 6.44) | |
| 1:229599340 | rs140525991 | T>A | B:879 | (-16.35, 41.06, 3.29) |
| 1:229599315 | rs375446105 COSM4029321 |
R>H | B:887 | (-1.66, 40.03, 1.85) |
| 1:229599312 | rs372148079 | Y>C | B:888 | (-0.99, 43.35, 3.17) |
| 1:229599292 | COSM240945 | Q>K | B:895 | (2.28, 36.24, 13.68) |
| 1:229596515 | N>T | B:896 | (-0.61, 36.77, 11.31) | |
| 1:229596496 | rs375137512 | F>L | B:902 | (-6.91, 30.34, 13.63) |
| 1:229596494 | R>H | B:903 | (-9.22, 32.95, 12.22) | |
| 1:229596495 | R>C | B:903 | (-9.22, 32.95, 12.22) | |
| 1:229596491 | rs145861862 | W>L | B:904 | (-10.51, 30.63, 9.72) |
| 1:229596435 | rs149720511 | G>R | B:923 | (-11.57, 30.44, 0.38) |
| 1:229596430 | Q>H | B:924 | (-10.42, 27.68, -1.23) | |
| 1:229596427 | L>F | B:925 | (-7.17, 29.40, -1.29) | |
| 1:229596429 | L>V | B:925 | (-7.17, 29.40, -1.29) | |
| 1:229594040 | rs146066633 | H>Y | B:950 | (-0.20, 6.50, 2.95) |
| 1:229594036 | A>V | B:951 | (1.14, 9.26, 5.70) | |
| 1:229594012 | M>T | B:959 | (-4.25, 9.72, 16.45) | |
| 1:229594004 | rs564675579 | R>C | B:962 | (-14.51, 10.51, 19.63) |
| 1:229593942 | D>E | B:982 | (3.50, 6.62, -8.08) | |
| 1:229593938 | S>A | B:984 | (7.95, 0.75, -5.71) | |
| 1:229593933 | rs576319343 | E>D | B:985 | (5.79, -3.41, -7.51) |
| 1:229593929 | M>V | B:987 | (7.68, 0.89, -0.73) | |
| 1:229588386 | M>I | B:995 | (-2.00, -1.43, 6.01) | |
| 1:229588372 | COSM679179 | R>H | B:1000 | (-4.25, -9.03, 9.80) |
| 1:229588373 | R>C | B:1000 | (-4.25, -9.03, 9.80) | |
| 1:229588346 | P>T | B:1009 | (-20.97, -10.75, 18.21) | |
| 1:229588330 | A>V | B:1014 | (-27.87, -5.60, 22.17) | |
| 1:229588326 | rs374502193 | E>D | B:1015 | (-27.40, -8.23, 25.65) |
| 1:229588310 | S>G | B:1021 | (-20.86, 3.07, 14.70) | |
| 1:229588306 | COSM533314 | A>V | B:1022 | (-20.94, 5.13, 17.81) |
| 1:229588303 | M>T | B:1023 | (-18.28, 1.92, 19.14) | |
| 1:229588292 | T>A | B:1027 | (-8.30, -2.33, 23.64) | |
| 1:229588285 | P>Q | B:1029 | (-8.05, -5.86, 26.55) | |
| 1:229588273 | rs35550140 | G>D | B:1033 | (-13.63, -9.76, 27.57) |
| 1:229586348 | Y>C | B:1035 | (-14.90, -11.67, 21.35) | |
| 1:229586336 | rs370920263 | E>A | B:1039 | (-23.20, -10.88, 28.44) |
| 1:229586319 | E>Q | B:1045 | (-15.30, -22.90, 18.24) | |
| 1:229586288 | rs376476266 | L>S | B:1055 | (-3.12, -11.98, 23.75) |
| 1:229586282 | Y>C | B:1057 | (-2.94, -7.49, 18.89) | |
| 1:229586280 | rs200086993 | I>V | B:1058 | (-1.33, -6.20, 25.17) |
| 1:229586276 | rs140045966 | D>G | B:1059 | (1.95, -3.09, 25.13) |
| 1:229584921 | rs371972960 COSM1715949 |
I>T | B:1066 | (-0.06, -12.49, 29.57) |
| 1:229584875 | D>E | B:1081 | (-18.17, -27.21, 27.67) | |
| 1:229580712 | V>I | B:1095 | (-17.09, -29.88, 22.56) | |
| 1:229580700 | S>G | B:1099 | (-11.97, -27.33, 19.25) | |
| 1:229580696 | rs146480140 | I>T | B:1100 | (-9.75, -24.63, 21.36) |
| 1:229580687 | K>M | B:1103 | (-7.10, -24.74, 16.22) | |
| 1:229580683 | rs201548931 | I>M | B:1104 | (-3.87, -24.59, 18.49) |
| 1:229577763 | P>L | B:1120 | (3.62, -25.34, 26.78) | |
| 1:229577764 | rs549704504 | P>S | B:1120 | (3.62, -25.34, 26.78) |
| 1:229577737 | D>Y | B:1129 | (-6.17, -23.32, 41.39) | |
| 1:229577685 | A>V | B:1146 | (-8.54, -36.97, 29.87) | |
| 1:229577676 | E>A | B:1149 | (-3.49, -37.13, 27.51) | |
| 1:229577667 | V>A | B:1152 | (0.58, -35.29, 25.17) | |
| 1:229577655 | I>T | B:1156 | (3.78, -35.31, 20.18) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:229602386 | COSM216254 | L>F | B:732 | (-13.63, 67.43, 22.57) |
| 1:229601261 | COSM1158700 | M>I | B:735 | (-9.01, 68.97, 23.58) |
| 1:229588306 | COSM533314 | A>V | B:1022 | (-20.94, 5.13, 17.81) |
| 1:229584922 | COSM1601865 | I>V | B:1066 | (-0.06, -12.49, 29.57) |