General Structure Information
| PDB ID | 4fq3 |
| HGNC Gene Label(s) | TNPO1 |
| Structure Name | crystal structure of transportin/fus-nls |
| Resolution | 3.0Å |
| Reference | AUTH W.GONG,C.NIU,M.JIA,F.GAOTITL CRYSTAL STRUCTURE OF TRANSPORTIN/FUS-NLSREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 834 |
| Number Of SNVs | 98 |
| Number Of Permutations | 65560 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.004 |
| p-value | 0.682 |
COSMIC
| Number Of Residues | 834 |
| Number Of SNVs | 12 |
| Number Of Permutations | 18692 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.015 |
| p-value | 0.122 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 98 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | -0.07 |
| p-value | 0.145 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:72144288 | rs537554933 | Q>R | A:23 | (17.08, 6.07, -9.04) |
| 5:72144302 | T>P | A:28 | (9.64, 5.09, 1.87) | |
| 5:72144311 | R>G | A:31 | (8.59, 0.59, 0.98) | |
| 5:72147077 | E>Q | A:38 | (3.99, -5.59, -7.99) | |
| 5:72147087 | rs368727853 | N>S | A:41 | (6.02, -5.82, -13.96) |
| 5:72151606 | P>T | A:63 | (22.00, 5.19, -14.80) | |
| 5:72151627 | L>F | A:70 | (18.22, -4.40, -15.36) | |
| 5:72151637 | K>T | A:73 | (16.44, -8.80, -16.31) | |
| 5:72151664 | rs374907535 | N>I | A:82 | (2.82, -14.64, -20.11) |
| 5:72151676 | COSM22103 | G>D | A:86 | (6.08, -8.41, -30.84) |
| 5:72151694 | rs568082666 | K>R | A:92 | (14.18, -10.33, -29.62) |
| 5:72157649 | T>A | A:116 | (17.88, -13.64, -19.98) | |
| 5:72157652 | I>V | A:117 | (15.66, -13.45, -24.12) | |
| 5:72157659 | rs200553704 | S>F | A:119 | (17.75, -18.77, -21.26) |
| 5:72157661 | K>Q | A:120 | (13.11, -17.96, -19.80) | |
| 5:72157665 | COSM177876 | G>E | A:121 | (12.38, -18.69, -23.90) |
| 5:72157699 | K>N | A:132 | (22.80, -11.21, -36.40) | |
| 5:72157706 | S>G | A:135 | (27.38, -11.41, -38.67) | |
| 5:72157728 | Y>C | A:142 | (36.07, -3.77, -29.95) | |
| 5:72157734 | rs544239717 | T>I | A:144 | (29.73, -4.76, -32.10) |
| 5:72161492 | COSM195639 | R>S | A:170 | (24.20, -29.96, -37.55) |
| 5:72161541 | rs370549889 | S>N | A:186 | (44.11, -7.57, -31.77) |
| 5:72161554 | I>M | A:190 | (38.12, -10.76, -28.71) | |
| 5:72168485 | V>I | A:198 | (36.24, -23.33, -27.94) | |
| 5:72168537 | rs149944168 | S>C | A:215 | (43.45, -25.36, -35.84) |
| 5:72168542 | I>F | A:217 | (46.42, -27.66, -30.87) | |
| 5:72171482 | rs537271238 | R>Q | A:232 | (48.53, -16.56, -19.25) |
| 5:72171497 | COSM1438480 | R>Q | A:237 | (40.00, -24.20, -18.33) |
| 5:72171510 | M>I | A:241 | (39.72, -29.68, -21.03) | |
| 5:72171547 | M>V | A:254 | (53.54, -33.68, -23.75) | |
| 5:72171550 | H>Y | A:255 | (59.20, -31.56, -23.04) | |
| 5:72171553 | N>Y | A:256 | (57.31, -28.60, -25.09) | |
| 5:72173080 | Q>R | A:268 | (52.26, -13.39, -11.76) | |
| 5:72173089 | N>S | A:271 | (43.70, -17.29, -11.32) | |
| 5:72173103 | A>S | A:276 | (47.89, -25.12, -14.33) | |
| 5:72173119 | L>P | A:281 | (44.92, -33.46, -10.68) | |
| 5:72173137 | rs144997390 | P>R | A:287 | (48.27, -44.22, -18.26) |
| 5:72173149 | D>G | A:291 | (56.57, -42.34, -19.15) | |
| 5:72173169 | rs200584417 COSM3072768 |
P>S | A:298 | (62.34, -33.22, -9.91) |
| 5:72178298 | I>V | A:301 | (57.35, -32.54, -6.05) | |
| 5:72178313 | N>H | A:306 | (55.41, -23.55, -2.68) | |
| 5:72178334 | I>V | A:313 | (44.14, -13.30, 1.63) | |
| 5:72182941 | R>C | A:391 | (52.57, -46.27, -3.77) | |
| 5:72182957 | P>Q | A:396 | (63.21, -39.80, -2.51) | |
| 5:72182960 | rs142209295 | H>R | A:397 | (61.70, -36.66, -5.03) |
| 5:72182968 | rs140476981 | P>A | A:400 | (63.93, -33.78, 1.55) |
| 5:72182971 | L>V | A:401 | (60.82, -31.02, 1.04) | |
| 5:72183910 | M>L | A:429 | (51.82, -45.91, 4.53) | |
| 5:72183925 | P>A | A:434 | (60.14, -46.43, 8.46) | |
| 5:72183933 | L>F | A:436 | (55.59, -43.40, 11.34) | |
| 5:72183934 | P>A | A:437 | (58.18, -44.28, 14.83) | |
| 5:72183959 | rs564000608 | Q>R | A:445 | (53.58, -32.54, 21.07) |
| 5:72183989 | rs370903533 | R>H | A:455 | (45.48, -26.74, 17.07) |
| 5:72183997 | T>A | A:458 | (47.74, -32.42, 13.14) | |
| 5:72184009 | L>F | A:462 | (47.34, -38.06, 13.14) | |
| 5:72184036 | S>G | A:471 | (48.83, -51.82, 14.18) | |
| 5:72184043 | rs374520694 | P>L | A:473 | (51.35, -51.33, 20.47) |
| 5:72184052 | rs140988378 | T>M | A:476 | (52.81, -46.53, 22.30) |
| 5:72184087 | rs150255663 | R>C | A:488 | (42.26, -30.27, 21.06) |
| 5:72184088 | R>L | A:488 | (42.26, -30.27, 21.06) | |
| 5:72184099 | S>G | A:492 | (37.96, -22.79, 21.73) | |
| 5:72184108 | R>G | A:495 | (38.32, -23.49, 11.39) | |
| 5:72185621 | A>G | A:505 | (35.77, -40.83, 13.56) | |
| 5:72185671 | I>V | A:522 | (35.01, -41.39, 24.54) | |
| 5:72185719 | COSM483020 | L>V | A:538 | (26.25, -30.71, 16.55) |
| 5:72185740 | I>V | A:545 | (27.83, -40.43, 18.46) | |
| 5:72185757 | D>E | A:550 | (28.67, -48.70, 14.36) | |
| 5:72185768 | H>R | A:554 | (25.82, -55.00, 21.67) | |
| 5:72187671 | Q>R | A:571 | (17.47, -31.19, 23.04) | |
| 5:72189051 | Q>R | A:617 | (3.26, -41.06, 4.48) | |
| 5:72189062 | A>T | A:621 | (3.07, -37.94, -1.60) | |
| 5:72189211 | N>S | A:627 | (4.25, -37.36, -11.51) | |
| 5:72189306 | I>F | A:659 | (8.90, -53.82, 16.21) | |
| 5:72189347 | COSM26607 | M>I | A:672 | (8.04, -51.15, 2.09) |
| 5:72189462 | R>Q | A:684 | (15.57, -50.04, -5.66) | |
| 5:72189467 | rs200521874 | S>C | A:686 | (16.80, -49.05, 2.25) |
| 5:72189491 | L>F | A:694 | (10.29, -56.34, 9.26) | |
| 5:72192290 | rs561660264 | F>L | A:709 | (6.74, -57.67, -1.28) |
| 5:72192320 | rs529007586 | P>A | A:719 | (24.23, -57.37, -10.50) |
| 5:72192324 | E>V | A:720 | (24.54, -54.03, -12.99) | |
| 5:72192359 | I>V | A:732 | (15.11, -63.80, -0.69) | |
| 5:72192380 | M>L | A:739 | (7.53, -68.96, 3.99) | |
| 5:72192886 | I>T | A:741 | (7.38, -75.79, 2.02) | |
| 5:72192887 | I>M | A:741 | (7.38, -75.79, 2.02) | |
| 5:72192889 | E>G | A:742 | (4.46, -71.86, 2.53) | |
| 5:72192895 | rs199950184 | Q>R | A:744 | (7.26, -74.81, -3.95) |
| 5:72192906 | rs369467110 | P>A | A:748 | (11.43, -70.00, -10.09) |
| 5:72192909 | rs368079403 | M>V | A:749 | (11.02, -65.66, -9.42) |
| 5:72192917 | L>F | A:751 | (17.48, -70.14, -8.58) | |
| 5:72192949 | N>S | A:762 | (34.51, -59.34, -11.16) | |
| 5:72195835 | rs368568556 | I>V | A:773 | (23.55, -67.85, 2.82) |
| 5:72195841 | I>V | A:775 | (21.24, -70.68, -2.61) | |
| 5:72195848 | R>H | A:777 | (18.65, -69.52, 4.40) | |
| 5:72195859 | V>I | A:781 | (12.84, -74.72, 2.55) | |
| 5:72196820 | I>V | A:804 | (31.91, -67.01, 6.66) | |
| 5:72196854 | rs554659595 | R>H | A:815 | (21.24, -77.18, 9.22) |
| 5:72196874 | S>C | A:822 | (20.02, -85.93, 0.01) | |
| 5:72196875 | S>N | A:822 | (20.02, -85.93, 0.01) | |
| 5:72196892 | V>I | A:828 | (28.77, -83.31, -4.77) | |
| 5:72199560 | rs113153605 | V>I | A:839 | (33.03, -79.24, 6.51) |
| 5:72201217 | A>T | A:885 | (39.53, -87.10, 11.74) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 5:72144310 | COSM36775 | Q>H | A:30 | (12.98, 2.38, -2.42) |
| 5:72151675 | COSM1438475 | G>S | A:86 | (6.08, -8.41, -30.84) |
| 5:72151738 | COSM1754327 | R>G | A:107 | (28.61, -2.58, -24.10) |
| 5:72168474 | COSM1438477 | A>V | A:194 | (37.36, -17.42, -28.29) |
| 5:72183988 | COSM1695868 | R>C | A:455 | (45.48, -26.74, 17.07) |
| 5:72185728 | COSM285858 | L>I | A:541 | (29.08, -34.80, 17.59) |
| 5:72189012 | COSM3072786 | Y>F | A:604 | (14.39, -43.42, 24.32) |
| 5:72189511 | COSM1620515 | Q>H | A:700 | (3.45, -61.92, 11.87) |
| 5:72189512 | COSM1620516 | H>Y | A:701 | (2.67, -58.10, 10.56) |
| 5:72196828 | COSM1717232 | D>E | A:806 | (31.23, -70.22, 12.77) |
| 5:72201149 | COSM4969594 | N>S | A:862 | (31.71, -96.17, 2.26) |
| 5:72201211 | COSM1069897 | R>C | A:883 | (39.56, -79.57, 11.55) |