General Structure Information
| PDB ID | 3zjy |
| HGNC Gene Label(s) | IPO13 |
| Structure Name | crystal structure of importin 13 – rangtp – eif1a complex |
| Resolution | 3.6Å |
| Reference | AUTH M.GRUNWALD,D.LAZZARETTI,F.BONOTITL STRUCTURAL BASIS FOR THE NUCLEAR EXPORT ACTIVITY OFTITL 2 IMPORTIN13.REF EMBO J. V. 32 899 2013REFN ISSN 0261-4189PMID 23435562DOI 10.1038/EMBOJ.2013.29 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 907 |
| Number Of SNVs | 151 |
| Number Of Permutations | 32323 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.024 |
| p-value | 0.728 |
COSMIC
| Number Of Residues | 907 |
| Number Of SNVs | 14 |
| Number Of Permutations | 12780 |
| Optimal Distance Threshold | 37.0 |
| K Statistic | 0.275 |
| p-value | 0.949 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 151 |
| Number Of COSMIC SNVs | 12 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.024 |
| p-value | 0.595 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:44415108 | rs368161909 | Y>C | G:35 | (49.01, -3.44, -16.73) |
| 1:44415110 | D>N | G:36 | (54.82, 0.21, -18.15) | |
| 1:44415122 | E>K | G:40 | (59.53, 6.41, -14.93) | |
| 1:44415141 | Q>L | G:46 | (51.46, 9.51, -10.44) | |
| 1:44415165 | V>A | G:54 | (42.22, 17.88, -9.65) | |
| 1:44415209 | COSM4008306 COSM386051 |
D>N | G:69 | (33.38, -0.79, -22.31) |
| 1:44415216 | V>A | G:71 | (38.76, -3.07, -17.30) | |
| 1:44415234 | F>S | G:77 | (41.04, 6.44, -11.54) | |
| 1:44415245 | A>T | G:81 | (38.07, 10.23, -8.28) | |
| 1:44415264 | S>F | G:87 | (36.42, 13.95, 0.32) | |
| 1:44415266 | R>C | G:88 | (38.75, 16.84, -0.60) | |
| 1:44415292 | rs551718604 | D>E | G:96 | (23.50, 22.68, -8.97) |
| 1:44415329 | I>V | G:109 | (26.01, 1.59, -6.16) | |
| 1:44415330 | I>N | G:109 | (26.01, 1.59, -6.16) | |
| 1:44415335 | R>C | G:111 | (24.50, 0.45, -13.44) | |
| 1:44415336 | R>H | G:111 | (24.50, 0.45, -13.44) | |
| 1:44415347 | G>S | G:115 | (30.29, -6.39, -10.13) | |
| 1:44415366 | rs527262092 | T>I | G:121 | (33.68, -0.69, -1.76) |
| 1:44415398 | rs138977771 | L>F | G:132 | (28.92, 12.28, 6.09) |
| 1:44415408 | M>K | G:135 | (23.47, 15.23, 6.75) | |
| 1:44415410 | P>S | G:136 | (23.50, 18.04, 8.65) | |
| 1:44415447 | R>Q | G:148 | (13.99, 3.06, 1.33) | |
| 1:44415488 | R>C | G:162 | (20.40, -4.52, -3.29) | |
| 1:44415497 | A>T | G:165 | (24.62, -2.68, -1.40) | |
| 1:44415518 | V>M | G:172 | (31.35, 2.37, 4.45) | |
| 1:44415546 | rs373271156 | R>H | G:181 | (36.72, 16.75, 8.63) |
| 1:44415575 | rs553921358 | R>W | G:191 | (28.57, 13.83, 15.87) |
| 1:44415588 | rs146837473 | A>V | G:195 | (23.53, 7.47, 16.76) |
| 1:44415599 | G>R | G:199 | (18.82, 3.23, 15.53) | |
| 1:44415612 | rs367545199 | P>L | G:203 | (15.71, -2.32, 13.22) |
| 1:44415638 | P>A | G:212 | (14.48, -17.69, 7.60) | |
| 1:44415642 | S>T | G:213 | (15.26, -16.45, 3.70) | |
| 1:44415650 | S>G | G:216 | (24.96, -16.24, 4.09) | |
| 1:44415654 | C>Y | G:217 | (25.84, -13.30, 2.42) | |
| 1:44415659 | rs149599195 | R>C | G:219 | (22.39, -14.15, 7.77) |
| 1:44415660 | R>H | G:219 | (22.39, -14.15, 7.77) | |
| 1:44415692 | V>L | G:230 | (29.61, -1.15, 17.54) | |
| 1:44415708 | P>L | G:235 | (24.49, 2.27, 23.39) | |
| 1:44415713 | Q>K | G:237 | (21.52, -1.67, 25.47) | |
| 1:44415717 | D>G | G:238 | (20.52, -0.15, 22.16) | |
| 1:44415718 | D>E | G:238 | (20.52, -0.15, 22.16) | |
| 1:44415723 | rs369650419 | E>G | G:240 | (21.46, -6.94, 22.63) |
| 1:44415726 | A>V | G:241 | (19.80, -8.43, 20.02) | |
| 1:44415728 | L>F | G:242 | (22.27, -7.64, 16.88) | |
| 1:44415735 | rs139063607 | Q>L | G:244 | (21.27, -12.31, 21.75) |
| 1:44415736 | Q>H | G:244 | (21.27, -12.31, 21.75) | |
| 1:44415756 | Q>L | G:251 | (26.25, -22.43, 14.64) | |
| 1:44415762 | S>L | G:253 | (31.23, -21.55, 9.34) | |
| 1:44415773 | rs79705605 | D>N | G:257 | (35.14, -14.93, 11.18) |
| 1:44415803 | rs201542997 | I>V | G:267 | (32.78, -6.84, 24.68) |
| 1:44422021 | rs147434747 | P>L | G:284 | (25.71, -16.65, 29.92) |
| 1:44422026 | COSM339977 | V>L | G:286 | (30.79, -16.73, 26.78) |
| 1:44422029 | L>V | G:287 | (29.95, -19.84, 29.82) | |
| 1:44422046 | Q>H | G:292 | (32.06, -24.44, 19.78) | |
| 1:44422050 | R>W | G:294 | (36.43, -28.71, 23.30) | |
| 1:44422051 | rs141734442 | R>Q | G:294 | (36.43, -28.71, 23.30) |
| 1:44422074 | M>V | G:302 | (42.57, -23.08, 15.27) | |
| 1:44422075 | M>K | G:302 | (42.57, -23.08, 15.27) | |
| 1:44422081 | rs376746770 COSM681254 |
T>I | G:304 | (37.25, -21.93, 16.32) |
| 1:44422098 | R>C | G:310 | (39.37, -12.61, 19.61) | |
| 1:44422101 | I>V | G:311 | (35.58, -13.62, 23.39) | |
| 1:44422104 | rs139508774 | A>T | G:312 | (36.56, -14.57, 26.62) |
| 1:44422113 | L>V | G:315 | (33.99, -10.49, 28.93) | |
| 1:44422119 | E>K | G:317 | (39.96, -7.81, 30.16) | |
| 1:44422263 | S>G | G:332 | (30.25, -17.55, 36.57) | |
| 1:44422264 | rs368618965 | S>N | G:332 | (30.25, -17.55, 36.57) |
| 1:44422295 | F>L | G:342 | (40.72, -25.21, 27.79) | |
| 1:44422332 | T>S | G:355 | (47.31, -18.93, 18.60) | |
| 1:44422486 | D>G | G:370 | (41.35, -6.42, 39.61) | |
| 1:44422530 | V>L | G:385 | (39.29, -18.35, 45.36) | |
| 1:44422536 | R>W | G:387 | (47.29, -18.15, 46.37) | |
| 1:44422560 | D>N | G:395 | (52.33, -25.01, 35.81) | |
| 1:44422562 | COSM426325 | D>E | G:395 | (52.33, -25.01, 35.81) |
| 1:44422590 | S>T | G:405 | (62.87, -31.66, 21.15) | |
| 1:44422600 | E>G | G:408 | (60.09, -30.67, 17.70) | |
| 1:44422884 | COSM1321045 | T>M | G:430 | (53.07, -12.74, 33.10) |
| 1:44422890 | M>T | G:432 | (56.51, -11.42, 37.62) | |
| 1:44422911 | G>A | G:439 | (55.68, -15.33, 46.39) | |
| 1:44422913 | A>T | G:440 | (57.32, -17.44, 48.78) | |
| 1:44422950 | rs562766054 COSM321030 |
R>H | G:452 | (62.26, -33.68, 43.34) |
| 1:44422961 | S>G | G:456 | (66.74, -36.70, 43.60) | |
| 1:44422971 | rs372057470 | E>A | G:459 | (64.99, -39.86, 35.24) |
| 1:44423077 | T>P | G:466 | (66.28, -27.96, 33.87) | |
| 1:44423083 | A>T | G:468 | (62.01, -24.30, 32.57) | |
| 1:44423084 | A>V | G:468 | (62.01, -24.30, 32.57) | |
| 1:44423120 | I>T | G:480 | (63.18, -10.18, 44.91) | |
| 1:44423153 | L>P | G:491 | (70.00, -21.93, 44.12) | |
| 1:44423155 | I>V | G:492 | (73.33, -20.83, 44.34) | |
| 1:44423159 | G>D | G:493 | (74.12, -24.16, 44.90) | |
| 1:44423179 | I>F | G:500 | (76.33, -27.64, 30.31) | |
| 1:44423188 | rs377240680 | V>M | G:503 | (73.29, -23.57, 24.92) |
| 1:44423777 | E>Q | G:557 | (76.78, -4.82, 41.86) | |
| 1:44423787 | Y>C | G:560 | (82.75, -1.22, 46.34) | |
| 1:44423796 | P>L | G:563 | (89.00, -6.20, 44.65) | |
| 1:44423829 | Q>R | G:574 | (92.22, -10.16, 27.62) | |
| 1:44424147 | M>I | G:588 | (81.64, -2.04, 23.66) | |
| 1:44424191 | V>G | G:603 | (95.51, 3.87, 41.89) | |
| 1:44424218 | COSM414899 | S>L | G:612 | (97.61, -4.04, 30.42) |
| 1:44424443 | I>T | G:637 | (89.18, 3.07, 14.47) | |
| 1:44424463 | L>F | G:644 | (87.49, 3.93, 25.05) | |
| 1:44424493 | S>G | G:654 | (84.02, 9.04, 42.89) | |
| 1:44425924 | rs201190060 | V>L | G:678 | (93.09, 11.90, 32.85) |
| 1:44425950 | Q>H | G:686 | (98.10, 13.05, 20.14) | |
| 1:44425954 | I>V | G:688 | (93.44, 11.95, 18.62) | |
| 1:44425963 | V>M | G:691 | (92.82, 10.99, 13.81) | |
| 1:44426549 | A>V | G:704 | (83.72, 8.64, 18.19) | |
| 1:44426551 | V>L | G:705 | (85.83, 11.25, 19.23) | |
| 1:44426560 | I>L | G:708 | (84.92, 9.86, 24.32) | |
| 1:44426580 | K>N | G:714 | (79.44, 11.67, 32.33) | |
| 1:44426582 | T>M | G:715 | (81.99, 9.43, 34.19) | |
| 1:44426590 | rs572585747 | D>N | G:718 | (84.97, 17.56, 38.46) |
| 1:44426605 | rs200288730 | M>V | G:723 | (90.66, 18.52, 30.04) |
| 1:44426623 | E>K | G:729 | (90.52, 23.69, 21.01) | |
| 1:44426636 | rs202168397 | R>Q | G:733 | (88.59, 23.54, 15.38) |
| 1:44426639 | M>R | G:734 | (86.05, 21.26, 14.47) | |
| 1:44426650 | I>V | G:738 | (83.20, 20.81, 10.33) | |
| 1:44426681 | rs145933013 | R>Q | G:748 | (74.52, 20.08, 26.13) |
| 1:44426859 | rs142956307 | E>K | G:757 | (83.38, 25.44, 39.68) |
| 1:44426865 | rs376960008 | A>T | G:759 | (88.11, 27.96, 37.69) |
| 1:44426875 | P>L | G:762 | (86.63, 30.67, 31.24) | |
| 1:44426881 | I>T | G:764 | (83.70, 27.32, 27.75) | |
| 1:44426901 | V>I | G:771 | (79.54, 27.34, 18.52) | |
| 1:44426910 | V>I | G:774 | (79.53, 29.32, 13.35) | |
| 1:44426933 | Q>H | G:781 | (74.12, 29.54, 4.75) | |
| 1:44429973 | F>L | G:793 | (71.93, 26.49, 18.82) | |
| 1:44432248 | rs371570505 | A>V | G:800 | (72.52, 28.15, 29.30) |
| 1:44432278 | rs373331309 | C>Y | G:810 | (77.50, 38.51, 26.73) |
| 1:44432284 | R>Q | G:812 | (81.87, 37.96, 21.62) | |
| 1:44432287 | L>S | G:813 | (75.96, 37.60, 22.01) | |
| 1:44432305 | F>Y | G:819 | (63.84, 35.33, 19.99) | |
| 1:44432398 | V>M | G:823 | (60.86, 32.01, 16.10) | |
| 1:44432428 | T>A | G:833 | (63.94, 20.91, 15.75) | |
| 1:44432429 | T>I | G:833 | (63.94, 20.91, 15.75) | |
| 1:44432431 | V>L | G:834 | (59.97, 22.14, 17.07) | |
| 1:44432605 | E>Q | G:843 | (64.54, 27.23, 30.10) | |
| 1:44432617 | rs141629431 | R>W | G:847 | (66.09, 32.92, 33.61) |
| 1:44432629 | V>L | G:851 | (68.58, 38.96, 32.44) | |
| 1:44432653 | Q>E | G:859 | (59.76, 43.40, 24.38) | |
| 1:44432662 | rs376525084 | G>S | G:862 | (57.26, 38.35, 21.35) |
| 1:44432665 | rs369792831 COSM2171316 |
R>C | G:863 | (53.23, 40.58, 18.21) |
| 1:44432666 | COSM1210814 | R>H | G:863 | (53.23, 40.58, 18.21) |
| 1:44432669 | M>T | G:864 | (57.38, 37.40, 16.28) | |
| 1:44432991 | rs190722418 | I>T | G:873 | (47.61, 26.01, 17.32) |
| 1:44432994 | G>A | G:874 | (46.19, 26.01, 13.96) | |
| 1:44433003 | A>G | G:877 | (51.78, 21.81, 13.76) | |
| 1:44433008 | R>C | G:879 | (49.47, 17.28, 17.39) | |
| 1:44433009 | rs147658570 | R>H | G:879 | (49.47, 17.28, 17.39) |
| 1:44433029 | rs12743012 | A>S | G:886 | (51.63, 24.95, 25.90) |
| 1:44433036 | I>T | G:888 | (54.94, 28.48, 25.85) | |
| 1:44433047 | rs143160458 | L>V | G:892 | (54.03, 33.69, 27.71) |
| 1:44433083 | I>L | G:904 | (46.59, 38.26, 22.25) | |
| 1:44433087 | K>R | G:905 | (44.52, 41.04, 21.60) | |
| 1:44433093 | A>V | G:907 | (46.85, 38.45, 17.20) | |
| 1:44433099 | Q>L | G:909 | (41.92, 41.98, 15.12) | |
| 1:44433119 | rs138055744 | A>P | G:916 | (38.96, 29.44, 9.03) |
| 1:44433137 | Q>E | G:922 | (36.13, 30.85, 19.91) | |
| 1:44433143 | rs370263699 | D>N | G:924 | (37.11, 35.01, 22.72) |
| 1:44433164 | L>V | G:931 | (43.79, 35.46, 30.42) | |
| 1:44433167 | R>C | G:932 | (44.11, 33.30, 33.28) | |
| 1:44433168 | COSM386052 | R>H | G:932 | (44.11, 33.30, 33.28) |
| 1:44433263 | R>Q | G:934 | (45.87, 30.76, 37.82) | |
| 1:44433269 | N>S | G:936 | (47.90, 25.41, 35.05) | |
| 1:44433277 | COSM909931 | R>W | G:939 | (44.72, 23.74, 31.81) |
| 1:44433278 | R>Q | G:939 | (44.72, 23.74, 31.81) | |
| 1:44433316 | R>W | G:952 | (43.74, 20.49, 13.35) | |
| 1:44433320 | G>D | G:953 | (38.67, 18.63, 13.48) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:44415209 | COSM4008306 | D>N | G:69 | (33.38, -0.79, -22.31) |
| 1:44415359 | COSM1748466 | V>L | G:119 | (34.23, -0.61, -7.85) |
| 1:44415483 | COSM1748467 | Q>L | G:160 | (20.55, -11.26, -3.11) |
| 1:44415684 | COSM1667514 | S>F | G:227 | (30.86, -4.27, 13.62) |
| 1:44415726 | COSM4577371 | A>V | G:241 | (19.80, -8.43, 20.02) |
| 1:44422099 | COSM269377 | R>H | G:310 | (39.37, -12.61, 19.61) |
| 1:44422132 | COSM1210813 | R>Q | G:321 | (35.86, -5.82, 38.15) |
| 1:44422284 | COSM1748468 | M>V | G:339 | (36.73, -20.66, 29.40) |
| 1:44422950 | COSM321030 | R>H | G:452 | (62.26, -33.68, 43.34) |
| 1:44423161 | COSM1602448 | L>I | G:494 | (71.37, -25.94, 43.01) |
| 1:44424161 | COSM188930 | A>V | G:593 | (82.79, -4.30, 33.15) |
| 1:44426575 | COSM426327 | V>F | G:713 | (82.16, 14.40, 30.98) |
| 1:44432656 | COSM1687597 | E>K | G:860 | (62.39, 44.22, 21.05) |
| 1:44432666 | COSM1210814 | R>H | G:863 | (53.23, 40.58, 18.21) |