General Structure Information
| PDB ID | 3szr |
| HGNC Gene Label(s) | MX1 |
| Structure Name | crystal structure of modified nucleotide-free human mxa |
| Resolution | 3.5Å |
| Reference | AUTH S.GAO,A.VON DER MALSBURG,A.DICK,K.FAELBER,G.F.SCHRODER,AUTH 2 O.HALLER,G.KOCHS,O.DAUMKETITL STRUCTURE OF MYXOVIRUS RESISTANCE PROTEIN A REVEALS INTRA-TITL 2 AND INTERMOLECULAR DOMAIN INTERACTIONS REQUIRED FOR THETITL 3 ANTIVIRAL FUNCTION.REF IMMUNITY V. 35 514 2011REFN ISSN 1074-7613PMID 21962493DOI 10.1016/J.IMMUNI.2011.07.012 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 559 |
| Number Of SNVs | 177 |
| Number Of Permutations | 76581 |
| Optimal Distance Threshold | 52.0 |
| K Statistic | 0.572 |
| p-value | 0.089 |
COSMIC
| Number Of Residues | 559 |
| Number Of SNVs | 7 |
| Number Of Permutations | 8720 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.19 |
| p-value | 0.694 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 177 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.142 |
| p-value | 0.461 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 21:42807806 | rs568600711 | R>C | A:50 | (21.39, -12.76, 35.37) |
| 21:42807807 | rs138644617 | R>H | A:50 | (21.39, -12.76, 35.37) |
| 21:42807815 | I>V | A:53 | (25.06, -11.64, 28.46) | |
| 21:42807818 | rs368357662 COSM1130541 |
D>N | A:54 | (21.03, -13.26, 26.21) |
| 21:42807837 | R>Q | A:60 | (29.06, -13.24, 18.69) | |
| 21:42807846 | G>A | A:63 | (25.95, -12.77, 13.25) | |
| 21:42807848 | V>M | A:64 | (27.06, -9.54, 13.30) | |
| 21:42807851 | COSM188222 | E>Q | A:65 | (31.60, -11.99, 14.96) |
| 21:42807856 | Q>H | A:66 | (32.03, -9.53, 10.42) | |
| 21:42807864 | A>G | A:69 | (34.15, -3.33, 19.51) | |
| 21:42807872 | rs367851806 | A>T | A:72 | (33.73, -11.24, 25.17) |
| 21:42807878 | COSM1534654 | A>T | A:74 | (38.44, -15.01, 25.78) |
| 21:42807881 | rs150271063 | V>I | A:75 | (39.91, -18.63, 26.95) |
| 21:42807884 | rs200341832 | I>V | A:76 | (44.35, -17.81, 26.35) |
| 21:42807887 | G>R | A:77 | (46.36, -21.69, 26.35) | |
| 21:42807900 | S>L | A:81 | (47.54, -24.64, 30.66) | |
| 21:42807909 | S>T | A:84 | (40.46, -27.94, 29.94) | |
| 21:42807914 | COSM1681988 | V>M | A:86 | (38.65, -24.88, 34.07) |
| 21:42807923 | rs138975506 | A>T | A:89 | (34.41, -28.06, 35.97) |
| 21:42808947 | V>M | A:102 | (39.68, -31.73, 20.53) | |
| 21:42808973 | K>N | A:110 | (26.12, -20.27, 25.17) | |
| 21:42808974 | L>V | A:111 | (26.55, -22.48, 30.35) | |
| 21:42808992 | rs377043349 | E>K | A:117 | (13.82, -30.60, 33.89) |
| 21:42809035 | I>T | A:131 | (20.12, -33.41, 21.43) | |
| 21:42809037 | E>K | A:132 | (17.57, -32.19, 24.25) | |
| 21:42809038 | rs376506709 | E>G | A:132 | (17.57, -32.19, 24.25) |
| 21:42809044 | rs375569357 | S>L | A:134 | (21.22, -36.10, 29.67) |
| 21:42811624 | Q>P | A:147 | (35.95, -29.35, 15.04) | |
| 21:42811630 | COSM4101683 | A>V | A:149 | (34.38, -31.25, 9.14) |
| 21:42811635 | rs140022520 | A>T | A:151 | (39.39, -30.46, 9.87) |
| 21:42811636 | A>V | A:151 | (39.39, -30.46, 9.87) | |
| 21:42811638 | rs142294097 | G>R | A:152 | (39.70, -33.55, 7.98) |
| 21:42811644 | G>R | A:154 | (42.96, -33.68, 11.27) | |
| 21:42811649 | M>I | A:155 | (45.83, -32.27, 14.30) | |
| 21:42811656 | S>G | A:158 | (39.07, -22.96, 11.46) | |
| 21:42811665 | L>V | A:161 | (33.00, -20.31, 15.36) | |
| 21:42811670 | I>M | A:162 | (31.22, -24.67, 16.74) | |
| 21:42811672 | rs143467494 | T>I | A:163 | (27.65, -22.72, 19.17) |
| 21:42811683 | rs139175868 | S>G | A:167 | (21.06, -27.07, 30.43) |
| 21:42811686 | S>A | A:168 | (21.84, -26.73, 34.65) | |
| 21:42811690 | R>Q | A:169 | (18.95, -28.20, 38.76) | |
| 21:42811695 | V>I | A:171 | (25.50, -24.92, 35.14) | |
| 21:42811698 | P>S | A:172 | (27.64, -21.63, 36.31) | |
| 21:42811699 | rs371320791 | P>L | A:172 | (27.64, -21.63, 36.31) |
| 21:42811719 | L>F | A:179 | (40.91, -20.69, 21.84) | |
| 21:42811750 | N>S | A:189 | (61.51, -28.37, 12.88) | |
| 21:42811751 | N>K | A:189 | (61.51, -28.37, 12.88) | |
| 21:42811767 | rs549609996 | G>R | A:195 | (51.44, -23.44, 15.81) |
| 21:42812815 | I>S | A:198 | (47.38, -21.75, 17.61) | |
| 21:42812817 | K>E | A:199 | (51.13, -18.52, 19.05) | |
| 21:42812819 | K>N | A:199 | (51.13, -18.52, 19.05) | |
| 21:42812833 | K>R | A:204 | (42.67, -12.68, 14.94) | |
| 21:42812834 | K>N | A:204 | (42.67, -12.68, 14.94) | |
| 21:42812845 | R>K | A:208 | (38.93, -6.89, 18.87) | |
| 21:42812852 | E>D | A:210 | (36.12, -3.41, 23.48) | |
| 21:42812877 | S>G | A:219 | (51.02, -22.16, 40.91) | |
| 21:42812880 | N>D | A:220 | (54.68, -24.21, 40.28) | |
| 21:42812881 | COSM3371814 | N>S | A:220 | (54.68, -24.21, 40.28) |
| 21:42812892 | A>T | A:224 | (56.99, -13.36, 34.49) | |
| 21:42812925 | V>M | A:235 | (48.07, -6.55, 22.71) | |
| 21:42812934 | COSM3405398 | E>K | A:238 | (46.19, -0.11, 30.37) |
| 21:42812943 | R>G | A:241 | (41.93, -5.62, 28.29) | |
| 21:42813657 | P>S | A:249 | (47.27, -26.43, 43.46) | |
| 21:42813676 | rs370213780 COSM3550940 |
G>E | A:255 | (53.64, -25.12, 48.71) |
| 21:42813691 | rs142204314 | V>D | A:260 | (55.88, -16.98, 47.37) |
| 21:42813702 | COSM137234 | V>M | A:264 | (45.52, -14.09, 44.55) |
| 21:42813714 | rs199543737 | V>M | A:268 | (54.06, -9.62, 38.50) |
| 21:42813733 | G>V | A:274 | (42.19, -10.36, 39.17) | |
| 21:42813738 | rs528719662 | M>V | A:276 | (40.97, -17.15, 41.26) |
| 21:42813742 | I>T | A:277 | (44.32, -20.30, 43.14) | |
| 21:42813744 | V>L | A:278 | (41.36, -23.35, 40.94) | |
| 21:42813748 | K>R | A:279 | (42.51, -28.07, 42.74) | |
| 21:42813754 | COSM1414184 | R>Q | A:281 | (41.61, -34.62, 41.59) |
| 21:42813763 | Q>R | A:284 | (45.94, -39.76, 37.82) | |
| 21:42813764 | Q>H | A:284 | (45.94, -39.76, 37.82) | |
| 21:42813765 | E>K | A:285 | (42.30, -39.32, 37.57) | |
| 21:42813769 | I>T | A:286 | (42.93, -40.20, 31.92) | |
| 21:42813771 | rs147811042 | Q>E | A:287 | (39.77, -44.57, 31.64) |
| 21:42813774 | D>N | A:288 | (39.25, -42.92, 37.37) | |
| 21:42813777 | Q>E | A:289 | (35.37, -41.51, 34.81) | |
| 21:42813780 | L>V | A:290 | (35.90, -38.19, 40.18) | |
| 21:42813784 | S>N | A:291 | (32.56, -36.45, 40.25) | |
| 21:42813789 | S>P | A:293 | (29.87, -32.59, 41.92) | |
| 21:42813790 | S>Y | A:293 | (29.87, -32.59, 41.92) | |
| 21:42813795 | rs199502305 | A>T | A:295 | (35.84, -32.85, 42.21) |
| 21:42813803 | Q>H | A:297 | (32.39, -29.54, 46.95) | |
| 21:42813814 | rs373854920 | I>T | A:301 | (38.97, -30.08, 51.90) |
| 21:42813820 | F>S | A:303 | (42.22, -24.54, 48.78) | |
| 21:42815722 | L>M | A:313 | (38.51, -18.33, 51.55) | |
| 21:42815723 | L>P | A:313 | (38.51, -18.33, 51.55) | |
| 21:42815730 | E>D | A:315 | (41.01, -12.56, 47.57) | |
| 21:42815731 | rs62623435 | G>R | A:316 | (40.63, -16.25, 46.89) |
| 21:42815735 | K>T | A:317 | (37.35, -19.78, 45.97) | |
| 21:42815773 | E>K | A:330 | (33.58, -9.06, 36.10) | |
| 21:42815777 | L>P | A:331 | (30.73, -10.89, 31.07) | |
| 21:42815779 | I>V | A:332 | (27.43, -8.51, 33.18) | |
| 21:42817384 | P>S | A:340 | (28.48, 3.33, 25.48) | |
| 21:42817385 | P>L | A:340 | (28.48, 3.33, 25.48) | |
| 21:42817397 | N>S | A:344 | (27.25, 6.25, 19.17) | |
| 21:42817402 | I>V | A:346 | (25.90, 0.82, 15.01) | |
| 21:42817411 | T>A | A:349 | (27.51, 2.36, 10.45) | |
| 21:42817416 | rs370034315 | H>Q | A:350 | (22.78, 1.84, 8.51) |
| 21:42817422 | rs145912542 | R>S | A:352 | (29.78, 4.39, 6.14) |
| 21:42817427 | rs138397100 | T>I | A:354 | (22.94, 3.87, 3.25) |
| 21:42817432 | rs565679943 | E>K | A:356 | (27.70, 3.17, -0.15) |
| 21:42817453 | rs139733063 | D>N | A:363 | (17.56, -5.42, -8.43) |
| 21:42817457 | rs376894745 | I>T | A:364 | (17.14, -7.16, -11.55) |
| 21:42817467 | D>E | A:367 | (7.81, -11.78, -12.22) | |
| 21:42817482 | rs201776469 | M>I | A:372 | (8.78, -7.38, -19.56) |
| 21:42817492 | I>L | A:376 | (9.69, -1.78, -21.72) | |
| 21:42817930 | rs469390 | V>I | A:379 | (14.19, 0.17, -25.06) |
| 21:42817935 | N>K | A:380 | (11.42, 4.03, -24.14) | |
| 21:42817937 | rs34717738 | A>G | A:381 | (15.03, 5.75, -23.11) |
| 21:42817943 | N>I | A:383 | (14.72, 5.14, -28.21) | |
| 21:42817944 | N>K | A:383 | (14.72, 5.14, -28.21) | |
| 21:42817945 | Q>E | A:384 | (13.80, 9.05, -24.60) | |
| 21:42817960 | L>F | A:389 | (20.17, 13.53, -31.50) | |
| 21:42817963 | M>V | A:390 | (16.31, 12.95, -34.76) | |
| 21:42817964 | M>T | A:390 | (16.31, 12.95, -34.76) | |
| 21:42817975 | E>K | A:394 | (20.71, 17.27, -27.72) | |
| 21:42817987 | E>Q | A:398 | (29.55, 23.93, -19.89) | |
| 21:42817993 | rs148512486 | D>N | A:400 | (29.58, 21.51, -25.70) |
| 21:42817996 | I>V | A:401 | (27.99, 21.69, -30.37) | |
| 21:42818000 | rs370594768 | R>Q | A:402 | (22.67, 20.59, -29.33) |
| 21:42818014 | L>V | A:407 | (25.15, 18.91, -38.92) | |
| 21:42818018 | rs145288265 | R>Q | A:408 | (22.90, 23.37, -40.90) |
| 21:42818035 | W>G | A:414 | (28.37, 20.77, -50.27) | |
| 21:42818038 | S>R | A:415 | (27.68, 25.83, -49.61) | |
| 21:42818039 | S>N | A:415 | (27.68, 25.83, -49.61) | |
| 21:42818042 | T>R | A:416 | (31.29, 27.11, -49.32) | |
| 21:42818049 | I>M | A:418 | (29.22, 24.57, -54.09) | |
| 21:42821111 | COSM2818830 | R>C | A:441 | (41.11, 31.29, -88.40) |
| 21:42821112 | rs375670151 COSM1471424 |
R>H | A:441 | (41.11, 31.29, -88.40) |
| 21:42821120 | E>K | A:444 | (32.05, 33.37, -92.19) | |
| 21:42821151 | F>C | A:454 | (31.93, 25.60, -76.13) | |
| 21:42821159 | I>V | A:457 | (33.21, 23.47, -70.24) | |
| 21:42821162 | V>M | A:458 | (29.26, 23.49, -67.42) | |
| 21:42821172 | Q>R | A:461 | (33.31, 22.52, -62.91) | |
| 21:42821190 | E>G | A:467 | (33.50, 11.84, -54.98) | |
| 21:42821193 | COSM4101685 | P>L | A:468 | (32.81, 16.02, -52.98) |
| 21:42821196 | rs147827053 | A>G | A:469 | (29.48, 14.51, -51.75) |
| 21:42821208 | L>P | A:473 | (27.61, 10.76, -46.76) | |
| 21:42821211 | rs372146835 | H>R | A:474 | (31.14, 9.07, -46.02) |
| 21:42821220 | rs199860719 COSM4101686 |
T>M | A:477 | (27.89, 8.89, -41.28) |
| 21:42821222 | rs148192027 | D>N | A:478 | (31.36, 9.37, -39.16) |
| 21:42823103 | R>Q | A:481 | (29.37, 5.66, -35.42) | |
| 21:42823108 | A>P | A:483 | (26.13, 9.80, -31.47) | |
| 21:42823111 | F>L | A:484 | (22.89, 7.24, -32.80) | |
| 21:42823119 | D>E | A:486 | (28.58, 8.19, -27.43) | |
| 21:42823124 | COSM1030871 | S>L | A:488 | (24.75, 3.28, -25.75) |
| 21:42823131 | K>N | A:490 | (26.93, 8.34, -21.96) | |
| 21:42823133 | N>I | A:491 | (22.28, 4.97, -21.55) | |
| 21:42823162 | T>A | A:501 | (22.76, -6.07, -29.19) | |
| 21:42823165 | rs370026444 | A>T | A:502 | (23.32, -2.14, -30.00) |
| 21:42823168 | K>E | A:503 | (27.74, -1.35, -31.38) | |
| 21:42824555 | I>T | A:506 | (24.45, 1.33, -33.84) | |
| 21:42824570 | A>E | A:511 | (25.17, -0.00, -44.01) | |
| 21:42824579 | rs144883385 | E>G | A:514 | (26.42, 5.02, -45.93) |
| 21:42824585 | E>V | A:516 | (19.99, 3.62, -50.75) | |
| 21:42824590 | rs541890706 | E>K | A:518 | (26.62, 6.50, -52.09) |
| 21:42824602 | rs149039781 | R>C | A:522 | (27.57, 8.35, -56.86) |
| 21:42824603 | rs555024661 | R>H | A:522 | (27.57, 8.35, -56.86) |
| 21:42824612 | F>C | A:525 | (25.80, 14.71, -59.21) | |
| 21:42824616 | Q>H | A:526 | (24.46, 10.73, -63.22) | |
| 21:42824629 | rs1804113 | V>I | A:531 | (19.32, 16.87, -68.15) |
| 21:42824759 | rs548180267 | M>T | A:574 | (29.32, 36.31, -79.26) |
| 21:42824771 | F>S | A:578 | (28.90, 33.97, -69.53) | |
| 21:42824796 | Q>H | A:586 | (23.24, 30.54, -60.64) | |
| 21:42830465 | K>R | A:590 | (21.89, 26.82, -56.17) | |
| 21:42830468 | rs140570072 | R>H | A:591 | (19.50, 21.86, -58.54) |
| 21:42830491 | rs144523179 | I>V | A:599 | (19.88, 13.02, -49.90) |
| 21:42830506 | M>V | A:604 | (22.51, 9.01, -42.27) | |
| 21:42830516 | rs375454579 | T>M | A:607 | (16.08, 6.95, -41.66) |
| 21:42830521 | G>S | A:609 | (16.60, 6.12, -36.07) | |
| 21:42830529 | rs2230454 | Q>H | A:611 | (14.90, 2.20, -38.80) |
| 21:42830534 | Q>P | A:613 | (13.98, 4.23, -32.47) | |
| 21:42830580 | W>C | A:628 | (22.27, -12.34, -23.24) | |
| 21:42830590 | COSM1714012 | E>K | A:632 | (25.04, -6.62, -13.55) |
| 21:42830593 | R>G | A:633 | (30.51, -4.06, -13.73) | |
| 21:42830597 | rs148464043 | S>T | A:634 | (30.79, -8.42, -10.83) |
| 21:42830599 | rs372998034 | D>N | A:635 | (32.06, -3.73, -9.97) |
| 21:42830606 | S>N | A:637 | (26.73, -7.85, -8.56) | |
| 21:42830608 | D>N | A:638 | (29.99, -9.18, -6.75) | |
| 21:42830615 | rs142550630 | R>Q | A:640 | (24.60, -4.54, -5.80) |
| 21:42830623 | rs199725620 COSM1740697 |
L>V | A:643 | (27.07, -3.54, 0.22) |
| 21:42830633 | R>Q | A:646 | (28.46, -5.15, 5.89) | |
| 21:42830641 | rs375998659 COSM302698 |
R>W | A:649 | (25.55, -7.95, 9.26) |
| 21:42830648 | COSM124581 | T>M | A:651 | (19.48, -3.57, 10.80) |
| 21:42830656 | R>W | A:654 | (19.49, 0.99, 14.61) | |
| 21:42830657 | rs562050037 | R>Q | A:654 | (19.49, 0.99, 14.61) |
| 21:42830660 | rs150969307 | R>H | A:655 | (15.44, -3.77, 14.09) |
| 21:42830663 | rs201395750 | R>Q | A:656 | (17.94, -7.72, 19.61) |
| 21:42830668 | rs530985510 | A>T | A:658 | (17.10, -0.24, 20.84) |
| 21:42830676 | F>L | A:660 | (18.65, -3.95, 26.26) | |
| 21:42830680 | G>S | A:662 | (18.42, -1.22, 29.59) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 21:42817999 | COSM1030869 | R>W | A:402 | (22.67, 20.59, -29.33) |
| 21:42821111 | COSM2818830 | R>C | A:441 | (41.11, 31.29, -88.40) |
| 21:42821112 | COSM1471424 | R>H | A:441 | (41.11, 31.29, -88.40) |
| 21:42821136 | COSM3737579 | V>G | A:449 | (34.70, 24.35, -81.46) |
| 21:42824602 | COSM1215988 | R>C | A:522 | (27.57, 8.35, -56.86) |
| 21:42830648 | COSM124581 | T>M | A:651 | (19.48, -3.57, 10.80) |
| 21:42830659 | COSM1215989 | R>C | A:655 | (15.44, -3.77, 14.09) |
| 21:42830672 | COSM2818840 | Q>P | A:659 | (14.75, -4.60, 21.74) |