General Structure Information
| PDB ID | 4c0p |
| HGNC Gene Label(s) | TNPO3 |
| Structure Name | unliganded transportin 3 |
| Resolution | 2.95Å |
| Reference | AUTH G.N.MAERTENS,N.J.COOK,W.WANG,S.HARE,S.S.GUPTA,I.OZTOP,K.LEE,AUTH 2 V.E.PYE,O.COSNEFROY,A.P.SNIJDERS,V.N.KEWALRAMANI,A.FASSATI,AUTH 3 A.ENGELMAN,P.CHEREPANOVTITL STRUCTURAL BASIS FOR NUCLEAR IMPORT OF SPLICING FACTORS BYTITL 2 HUMAN TRANSPORTIN 3.REF PROC.NATL.ACAD.SCI.USA V. 111 2728 2014REFN ISSN 0027-8424PMID 24449914DOI 10.1073/PNAS.1320755111 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 889 |
| Number Of SNVs | 149 |
| Number Of Permutations | 32068 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.271 |
| p-value | 0.278 |
COSMIC
| Number Of Residues | 889 |
| Number Of SNVs | 4 |
| Number Of Permutations | 240 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.5 |
| p-value | 0.227 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 149 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.231 |
| p-value | 0.639 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:128694815 | A>T | C:4 | (-41.86, -8.48, 36.27) | |
| 7:128694790 | Y>C | C:12 | (-44.02, -22.63, 44.83) | |
| 7:128694731 | F>L | C:32 | (-28.71, -14.57, 42.69) | |
| 7:128694721 | G>E | C:35 | (-32.90, -13.07, 46.82) | |
| 7:128658171 | R>Q | C:54 | (-50.98, -23.46, 53.71) | |
| 7:128658172 | R>W | C:54 | (-50.98, -23.46, 53.71) | |
| 7:128658137 | Q>H | C:65 | (-36.97, -15.37, 55.51) | |
| 7:128658082 | A>S | C:84 | (-54.33, -3.24, 58.71) | |
| 7:128658073 | R>W | C:87 | (-53.17, -5.79, 62.58) | |
| 7:128658057 | rs61756250 | T>I | C:92 | (-54.36, -15.20, 59.41) |
| 7:128658046 | rs144611094 | N>D | C:96 | (-53.57, -21.07, 59.39) |
| 7:128658015 | T>M | C:106 | (-40.13, -18.01, 64.95) | |
| 7:128657109 | L>P | C:108 | (-44.58, -15.48, 61.12) | |
| 7:128657047 | L>M | C:129 | (-52.01, -10.11, 70.73) | |
| 7:128655182 | rs560154409 | N>D | C:135 | (-58.48, -18.15, 76.37) |
| 7:128655173 | T>A | C:138 | (-53.59, -24.04, 70.73) | |
| 7:128655165 | L>F | C:140 | (-50.72, -19.80, 74.35) | |
| 7:128655121 | H>R | C:155 | (-33.08, -2.61, 71.95) | |
| 7:128655116 | R>C | C:157 | (-28.58, -1.36, 65.34) | |
| 7:128655044 | rs544998176 COSM1163458 COSM1163459 |
V>I | C:181 | (-46.82, -10.73, 84.06) |
| 7:128645212 | M>T | C:185 | (-48.72, -15.48, 87.22) | |
| 7:128645209 | T>S | C:186 | (-52.27, -17.55, 84.33) | |
| 7:128645200 | E>G | C:189 | (-51.74, -21.98, 86.67) | |
| 7:128645121 | D>E | C:215 | (-41.94, -3.25, 89.28) | |
| 7:128645075 | V>I | C:231 | (-36.70, -25.26, 88.45) | |
| 7:128641279 | rs145553230 | K>E | C:236 | (-36.59, -34.39, 87.50) |
| 7:128641272 | COSM1312674 COSM1312675 |
S>L | C:238 | (-33.98, -30.39, 81.52) |
| 7:128641233 | S>L | C:251 | (-32.24, -11.34, 83.27) | |
| 7:128641230 | rs142399971 | A>V | C:252 | (-33.19, -10.27, 86.94) |
| 7:128641224 | rs147630663 | Y>C | C:254 | (-27.98, -6.89, 83.23) |
| 7:128641185 | rs368457792 | M>T | C:267 | (-32.91, -9.04, 99.47) |
| 7:128641182 | rs538337275 | Q>R | C:268 | (-36.61, -12.59, 96.90) |
| 7:128641173 | Q>R | C:271 | (-31.96, -14.64, 99.90) | |
| 7:128641154 | E>D | C:277 | (-24.08, -24.65, 97.34) | |
| 7:128641155 | E>V | C:277 | (-24.08, -24.65, 97.34) | |
| 7:128641147 | Y>H | C:280 | (-22.43, -26.46, 91.55) | |
| 7:128641143 | H>L | C:281 | (-22.21, -29.30, 94.97) | |
| 7:128641144 | H>Y | C:281 | (-22.21, -29.30, 94.97) | |
| 7:128641135 | rs144620878 | V>M | C:284 | (-20.29, -31.49, 90.15) |
| 7:128641128 | rs140709222 | R>H | C:286 | (-25.40, -36.26, 88.15) |
| 7:128641129 | R>C | C:286 | (-25.40, -36.26, 88.15) | |
| 7:128641123 | D>H | C:288 | (-24.66, -31.65, 83.37) | |
| 7:128640613 | N>S | C:294 | (-26.07, -22.70, 83.73) | |
| 7:128640605 | R>C | C:297 | (-23.54, -18.96, 82.93) | |
| 7:128640602 | I>V | C:298 | (-26.52, -17.70, 88.30) | |
| 7:128640596 | T>A | C:300 | (-20.95, -14.52, 87.90) | |
| 7:128640590 | rs150651353 | L>I | C:302 | (-24.91, -12.43, 92.52) |
| 7:128640560 | rs148527094 | C>S | C:312 | (-19.24, -1.18, 100.95) |
| 7:128640542 | L>V | C:318 | (-26.76, -7.72, 99.65) | |
| 7:128640529 | rs144794750 | R>Q | C:322 | (-20.99, -18.24, 100.68) |
| 7:128640509 | I>L | C:329 | (-16.96, -23.46, 94.63) | |
| 7:128640494 | P>T | C:334 | (-11.71, -29.62, 86.73) | |
| 7:128637565 | W>R | C:346 | (-12.56, -12.70, 90.40) | |
| 7:128637558 | R>Q | C:348 | (-16.65, -4.83, 87.85) | |
| 7:128637556 | L>M | C:349 | (-13.32, -6.94, 92.21) | |
| 7:128637543 | L>W | C:353 | (-10.29, -2.99, 94.86) | |
| 7:128637529 | rs377543486 | D>N | C:358 | (-8.33, 1.43, 101.67) |
| 7:128637496 | rs139019562 | I>V | C:369 | (-7.39, -12.68, 94.80) |
| 7:128637450 | rs200546524 | P>L | C:384 | (1.03, -35.28, 80.92) |
| 7:128633962 | rs373971432 | V>I | C:389 | (5.85, -25.84, 72.52) |
| 7:128633959 | P>S | C:390 | (3.32, -23.96, 74.69) | |
| 7:128633943 | COSM1085419 COSM1085420 |
D>G | C:395 | (-9.40, -23.25, 72.76) |
| 7:128633928 | R>H | C:400 | (-1.70, -21.11, 79.32) | |
| 7:128633924 | M>I | C:401 | (-2.39, -16.36, 77.25) | |
| 7:128633922 | R>K | C:402 | (-9.22, -14.93, 79.60) | |
| 7:128633887 | I>L | C:414 | (-1.30, -10.75, 96.08) | |
| 7:128633881 | rs186194782 | S>A | C:416 | (4.83, -9.11, 93.21) |
| 7:128633878 | M>V | C:417 | (8.27, -10.48, 95.80) | |
| 7:128633865 | A>V | C:421 | (8.28, -16.44, 96.28) | |
| 7:128632140 | rs369968030 | Y>C | C:424 | (11.52, -20.69, 93.09) |
| 7:128632141 | Y>H | C:424 | (11.52, -20.69, 93.09) | |
| 7:128632083 | I>N | C:443 | (1.93, -17.46, 86.63) | |
| 7:128632080 | M>T | C:444 | (6.89, -16.74, 87.94) | |
| 7:128632072 | I>V | C:447 | (4.48, -11.67, 88.00) | |
| 7:128632069 | A>T | C:448 | (8.47, -10.73, 86.71) | |
| 7:128630146 | rs371704560 | N>S | C:456 | (14.47, -8.16, 96.76) |
| 7:128630126 | L>I | C:463 | (18.29, -15.83, 87.23) | |
| 7:128630110 | rs534068313 COSM1085417 COSM1085418 |
R>H | C:468 | (22.69, -24.43, 87.11) |
| 7:128630111 | R>C | C:468 | (22.69, -24.43, 87.11) | |
| 7:128630096 | rs150330408 | V>I | C:473 | (13.72, -30.41, 80.81) |
| 7:128630089 | rs200236830 | T>M | C:475 | (10.25, -28.34, 75.11) |
| 7:128630084 | V>L | C:477 | (9.92, -26.12, 80.86) | |
| 7:128630080 | R>Q | C:478 | (14.45, -25.06, 77.47) | |
| 7:128630075 | rs140216959 | T>S | C:480 | (8.13, -20.97, 79.89) |
| 7:128630071 | S>T | C:481 | (12.17, -20.53, 80.85) | |
| 7:128630060 | V>I | C:485 | (14.90, -14.90, 81.51) | |
| 7:128630039 | V>I | C:492 | (20.73, -9.06, 84.51) | |
| 7:128626962 | G>D | C:504 | (23.93, -18.81, 77.23) | |
| 7:128626911 | K>R | C:521 | (11.53, -12.18, 71.52) | |
| 7:128626891 | S>A | C:528 | (17.82, -2.68, 75.73) | |
| 7:128626888 | V>L | C:529 | (18.40, -3.25, 79.65) | |
| 7:128626881 | R>Q | C:531 | (22.14, -0.65, 75.96) | |
| 7:128626873 | M>L | C:534 | (26.22, -6.53, 76.10) | |
| 7:128626869 | rs553637874 | A>G | C:535 | (30.69, -5.21, 75.30) |
| 7:128626862 | H>Q | C:537 | (28.65, -10.69, 75.37) | |
| 7:128626857 | rs370293580 | N>S | C:539 | (31.81, -10.48, 68.68) |
| 7:128626836 | rs143136370 | R>H | C:546 | (27.99, -12.26, 59.62) |
| 7:128626837 | rs148210365 | R>C | C:546 | (27.99, -12.26, 59.62) |
| 7:128624295 | A>V | C:570 | (26.35, 2.35, 70.26) | |
| 7:128624286 | P>R | C:573 | (34.26, 2.07, 72.12) | |
| 7:128624267 | rs183831524 | E>D | C:579 | (35.60, -2.04, 62.74) |
| 7:128624269 | rs373570876 | E>K | C:579 | (35.60, -2.04, 62.74) |
| 7:128624239 | V>F | C:589 | (25.27, -4.76, 51.72) | |
| 7:128624226 | K>R | C:593 | (25.87, -5.98, 45.92) | |
| 7:128622329 | rs201842578 | F>C | C:611 | (17.64, -8.18, 52.32) |
| 7:128622320 | R>H | C:614 | (16.97, -7.74, 57.86) | |
| 7:128622321 | R>C | C:614 | (16.97, -7.74, 57.86) | |
| 7:128620083 | H>R | C:621 | (17.66, 1.33, 66.74) | |
| 7:128620071 | rs200950202 | I>T | C:625 | (27.10, 9.51, 73.02) |
| 7:128620051 | H>Y | C:632 | (29.53, 9.73, 63.56) | |
| 7:128620032 | I>T | C:638 | (26.35, 5.36, 55.78) | |
| 7:128620030 | Q>K | C:639 | (29.74, 7.86, 52.94) | |
| 7:128619140 | R>Q | C:653 | (12.17, 4.09, 38.33) | |
| 7:128619137 | A>V | C:654 | (8.08, 1.57, 39.78) | |
| 7:128619129 | R>W | C:657 | (6.14, -2.65, 48.88) | |
| 7:128619108 | R>G | C:664 | (11.48, 3.40, 57.09) | |
| 7:128619098 | COSM1447989 COSM1447990 |
R>H | C:667 | (14.83, 9.24, 58.13) |
| 7:128619086 | R>H | C:671 | (18.14, 9.16, 62.51) | |
| 7:128619083 | C>S | C:672 | (23.03, 7.29, 61.60) | |
| 7:128619071 | G>V | C:676 | (27.38, 16.06, 58.69) | |
| 7:128619065 | A>G | C:678 | (24.66, 17.41, 55.04) | |
| 7:128619048 | L>V | C:684 | (19.20, 11.63, 48.89) | |
| 7:128615982 | N>S | C:690 | (15.76, 12.54, 39.24) | |
| 7:128615971 | V>I | C:694 | (9.27, 8.88, 36.47) | |
| 7:128615932 | rs142120826 | L>F | C:707 | (15.04, 16.23, 54.82) |
| 7:128615917 | G>S | C:712 | (16.12, 23.99, 57.79) | |
| 7:128615914 | M>V | C:713 | (17.32, 24.55, 61.04) | |
| 7:128615901 | C>S | C:717 | (20.50, 23.39, 53.81) | |
| 7:128615898 | rs370591499 | R>Q | C:718 | (17.56, 27.89, 55.01) |
| 7:128615009 | C>S | C:729 | (6.03, 21.05, 42.69) | |
| 7:128615010 | C>G | C:729 | (6.03, 21.05, 42.69) | |
| 7:128615004 | P>A | C:731 | (5.83, 16.83, 39.07) | |
| 7:128614992 | L>I | C:735 | (-0.28, 14.22, 39.41) | |
| 7:128614974 | G>R | C:741 | (-6.53, 14.77, 41.11) | |
| 7:128614960 | H>Q | C:745 | (-3.75, 11.59, 43.37) | |
| 7:128614961 | rs200272444 | H>R | C:745 | (-3.75, 11.59, 43.37) |
| 7:128614934 | R>Q | C:754 | (3.21, 16.65, 56.22) | |
| 7:128614935 | R>W | C:754 | (3.21, 16.65, 56.22) | |
| 7:128612632 | I>V | C:760 | (6.31, 27.83, 57.19) | |
| 7:128612620 | P>A | C:764 | (9.63, 31.10, 56.74) | |
| 7:128612604 | R>Q | C:769 | (12.23, 36.41, 49.53) | |
| 7:128612605 | R>W | C:769 | (12.23, 36.41, 49.53) | |
| 7:128612598 | Q>L | C:771 | (9.20, 32.20, 42.64) | |
| 7:128612584 | rs368873021 | I>V | C:776 | (1.98, 25.83, 46.96) |
| 7:128612578 | Q>E | C:778 | (-2.96, 28.97, 43.31) | |
| 7:128612575 | rs374740765 | W>R | C:779 | (-3.11, 23.14, 43.12) |
| 7:128612560 | rs575963000 | T>A | C:784 | (-10.37, 23.40, 50.30) |
| 7:128612511 | R>Q | C:800 | (-2.69, 27.50, 61.26) | |
| 7:128612499 | rs375189043 | H>L | C:804 | (0.73, 32.99, 62.65) |
| 7:128612500 | H>D | C:804 | (0.73, 32.99, 62.65) | |
| 7:128612497 | T>A | C:805 | (4.20, 34.16, 59.13) | |
| 7:128610368 | H>R | C:811 | (9.76, 39.88, 69.07) | |
| 7:128610361 | E>D | C:813 | (14.82, 41.25, 63.92) | |
| 7:128610347 | COSM1229969 COSM1229970 rs587777431 |
R>Q | C:818 | (7.59, 37.54, 59.12) |
| 7:128610261 | P>A | C:847 | (-18.87, 19.49, 59.85) | |
| 7:128610255 | rs566110160 | T>A | C:849 | (-13.72, 21.69, 58.31) |
| 7:128610239 | A>G | C:854 | (-11.73, 29.44, 61.96) | |
| 7:128610218 | rs547598255 | M>T | C:861 | (-9.11, 38.62, 61.20) |
| 7:128610219 | M>L | C:861 | (-9.11, 38.62, 61.20) | |
| 7:128610203 | rs199600419 | P>L | C:866 | (-9.72, 45.87, 57.53) |
| 7:128610204 | P>S | C:866 | (-9.72, 45.87, 57.53) | |
| 7:128607436 | rs188168905 | R>Q | C:870 | (-12.71, 44.06, 50.82) |
| 7:128607433 | W>L | C:871 | (-10.52, 39.74, 51.39) | |
| 7:128607337 | T>S | C:903 | (-15.94, 40.96, 61.60) | |
| 7:128597340 | rs61756249 | A>V | C:914 | (-20.26, 31.38, 63.63) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 7:128655106 | COSM137948 | R>Q | C:160 | (-33.59, 1.79, 60.76) |
| 7:128655067 | COSM3685004 | L>W | C:173 | (-44.18, -2.15, 76.55) |
| 7:128645159 | COSM3633157 | R>C | C:203 | (-36.61, -19.02, 76.95) |
| 7:128630077 | COSM1673528 | Y>C | C:479 | (8.34, -21.22, 75.14) |