General Structure Information
| PDB ID | 1u6g |
| HGNC Gene Label(s) | CAND1 |
| Structure Name | crystal structure of the cand1-cul1-roc1 complex |
| Resolution | 3.1Å |
| Reference | AUTH S.J.GOLDENBERG,T.C.CASCIO,S.D.SHUMWAY,K.C.GARBUTT,AUTH 2 J.LIU,Y.XIONG,N.ZHENGTITL STRUCTURE OF THE CAND1-CUL1-ROC1 COMPLEX REVEALSTITL 2 REGULATORY MECHANISMS FOR THE ASSEMBLY OF THETITL 3 MULTISUBUNIT CULLIN-DEPENDENT UBIQUITIN LIGASESREF CELL(CAMBRIDGE,MASS.) V. 119 517 2004REFN ISSN 0092-8674PMID 15537541DOI 10.1016/J.CELL.2004.10.019 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1146 |
| Number Of SNVs | 162 |
| Number Of Permutations | 73564 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.102 |
| p-value | 0.001 |
COSMIC
| Number Of Residues | 1146 |
| Number Of SNVs | 9 |
| Number Of Permutations | 9306 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.028 |
| p-value | 0.77 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 162 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.028 |
| p-value | 0.573 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:67663511 | S>L | C:5 | (65.50, 77.01, 30.50) | |
| 12:67675716 | T>M | C:32 | (57.35, 67.56, 36.93) | |
| 12:67675736 | I>V | C:39 | (62.07, 77.96, 39.43) | |
| 12:67686418 | rs572210344 | S>G | C:77 | (50.84, 78.04, 43.19) |
| 12:67686458 | T>N | C:90 | (39.04, 81.84, 31.36) | |
| 12:67686460 | rs545940488 | L>F | C:91 | (37.82, 78.52, 34.06) |
| 12:67686500 | D>G | C:104 | (31.72, 69.64, 32.06) | |
| 12:67686515 | G>A | C:109 | (38.97, 73.07, 37.15) | |
| 12:67686524 | T>I | C:112 | (41.17, 71.69, 41.05) | |
| 12:67688818 | A>T | C:125 | (46.58, 85.87, 50.61) | |
| 12:67688887 | rs146253442 | V>I | C:148 | (19.71, 74.22, 35.09) |
| 12:67688936 | R>K | C:164 | (37.39, 73.64, 50.66) | |
| 12:67691240 | P>H | C:182 | (15.47, 82.21, 45.10) | |
| 12:67691356 | E>K | C:217 | (13.24, 83.77, 53.76) | |
| 12:67691362 | rs202097611 | S>T | C:219 | (9.68, 81.83, 59.02) |
| 12:67691377 | rs565395832 | M>V | C:224 | (0.13, 77.24, 53.25) |
| 12:67691386 | COSM942795 | T>A | C:227 | (7.01, 72.19, 48.05) |
| 12:67691405 | C>F | C:233 | (16.13, 74.07, 54.81) | |
| 12:67691407 | I>L | C:234 | (14.70, 74.43, 58.69) | |
| 12:67691413 | A>S | C:236 | (19.65, 71.57, 57.31) | |
| 12:67691420 | rs139187481 | S>N | C:238 | (19.69, 72.40, 62.27) |
| 12:67691438 | R>K | C:244 | (24.41, 80.68, 64.65) | |
| 12:67691536 | L>F | C:249 | (12.89, 78.40, 68.89) | |
| 12:67691543 | K>R | C:251 | (8.02, 81.66, 64.99) | |
| 12:67691548 | I>V | C:253 | (8.52, 74.22, 67.46) | |
| 12:67691551 | P>T | C:254 | (5.07, 75.89, 66.28) | |
| 12:67691557 | rs374736192 | V>L | C:256 | (6.59, 72.28, 62.39) |
| 12:67691573 | rs200378630 | N>S | C:261 | (-2.01, 67.36, 61.00) |
| 12:67692749 | COSM355993 | P>S | C:288 | (6.85, 66.81, 75.42) |
| 12:67692752 | COSM1747205 | H>Y | C:289 | (4.78, 69.62, 72.66) |
| 12:67692758 | S>P | C:291 | (7.20, 62.52, 72.38) | |
| 12:67692761 | T>A | C:292 | (3.08, 62.98, 71.84) | |
| 12:67696135 | M>V | C:345 | (4.73, 55.68, 51.32) | |
| 12:67696156 | A>T | C:352 | (11.09, 59.15, 61.95) | |
| 12:67696159 | A>P | C:353 | (9.56, 58.27, 64.87) | |
| 12:67696163 | COSM1199494 | A>V | C:354 | (11.83, 55.89, 65.60) |
| 12:67696180 | rs140417384 | V>I | C:360 | (14.84, 61.96, 72.80) |
| 12:67696194 | R>S | C:364 | (17.70, 64.87, 77.51) | |
| 12:67696217 | rs375779560 COSM1512995 |
Y>F | C:372 | (11.69, 53.08, 81.53) |
| 12:67696219 | K>E | C:373 | (6.43, 55.82, 83.90) | |
| 12:67696222 | rs185148102 | T>A | C:374 | (5.12, 57.62, 78.54) |
| 12:67696225 | rs201484225 COSM2098841 |
V>I | C:375 | (4.56, 54.98, 75.00) |
| 12:67696234 | A>T | C:378 | (4.72, 50.11, 75.98) | |
| 12:67696243 | S>P | C:381 | (7.71, 46.68, 72.82) | |
| 12:67696265 | E>G | C:388 | (12.58, 44.37, 58.28) | |
| 12:67696282 | V>I | C:394 | (12.18, 50.14, 66.91) | |
| 12:67696291 | A>T | C:397 | (15.76, 52.92, 70.21) | |
| 12:67696310 | K>R | C:403 | (22.71, 52.40, 75.61) | |
| 12:67696370 | T>I | C:423 | (14.32, 53.67, 90.16) | |
| 12:67698428 | K>R | C:446 | (13.00, 33.23, 58.45) | |
| 12:67698455 | F>C | C:455 | (20.78, 37.38, 70.62) | |
| 12:67698460 | rs370160844 | M>V | C:457 | (18.19, 43.87, 73.51) |
| 12:67698482 | V>G | C:464 | (22.03, 47.03, 82.90) | |
| 12:67698500 | T>I | C:470 | (16.08, 34.89, 86.87) | |
| 12:67698506 | H>P | C:472 | (12.22, 35.11, 82.20) | |
| 12:67698511 | P>T | C:474 | (13.08, 29.02, 80.08) | |
| 12:67698888 | I>M | C:480 | (19.93, 31.13, 72.45) | |
| 12:67698889 | rs141094067 | I>V | C:481 | (19.81, 26.82, 70.98) |
| 12:67698902 | N>S | C:485 | (21.97, 26.05, 64.38) | |
| 12:67698910 | S>P | C:488 | (24.52, 31.15, 56.12) | |
| 12:67698934 | D>N | C:496 | (26.08, 38.20, 68.22) | |
| 12:67698955 | rs372979019 | V>I | C:503 | (26.61, 37.89, 79.18) |
| 12:67698971 | H>R | C:508 | (21.84, 35.14, 85.66) | |
| 12:67698980 | Q>R | C:511 | (21.29, 27.74, 90.73) | |
| 12:67698991 | P>T | C:515 | (17.59, 22.80, 83.85) | |
| 12:67698997 | V>I | C:517 | (22.99, 21.89, 80.86) | |
| 12:67699004 | A>D | C:519 | (20.13, 21.44, 75.92) | |
| 12:67699008 | rs573253871 | L>F | C:520 | (22.67, 24.77, 76.23) |
| 12:67699019 | rs190148163 | V>A | C:524 | (28.31, 25.07, 72.71) |
| 12:67699028 | C>S | C:527 | (30.38, 26.13, 67.96) | |
| 12:67699066 | L>F | C:540 | (36.21, 28.04, 73.75) | |
| 12:67699069 | COSM942799 | L>I | C:541 | (34.19, 32.49, 76.44) |
| 12:67699081 | Q>E | C:545 | (30.90, 30.46, 82.72) | |
| 12:67699093 | V>I | C:549 | (27.43, 26.62, 85.54) | |
| 12:67699100 | R>H | C:551 | (32.38, 25.37, 89.52) | |
| 12:67699103 | P>R | C:552 | (29.63, 24.98, 91.47) | |
| 12:67699110 | D>E | C:554 | (31.49, 29.25, 94.87) | |
| 12:67699121 | COSM431725 | S>L | C:558 | (23.55, 19.04, 93.77) |
| 12:67699130 | A>G | C:561 | (28.50, 17.24, 85.45) | |
| 12:67699132 | T>A | C:562 | (29.49, 13.67, 85.10) | |
| 12:67699143 | I>M | C:565 | (33.28, 16.05, 81.71) | |
| 12:67699162 | rs199538424 | T>S | C:572 | (39.02, 22.03, 74.47) |
| 12:67699227 | M>I | C:593 | (41.46, 23.08, 79.44) | |
| 12:67699256 | rs145569945 | N>S | C:603 | (35.35, 12.99, 87.94) |
| 12:67699262 | G>V | C:605 | (40.21, 11.79, 83.29) | |
| 12:67699274 | rs141667712 | P>R | C:609 | (48.24, 13.74, 83.24) |
| 12:67699297 | E>K | C:617 | (54.57, 21.23, 76.12) | |
| 12:67699319 | T>I | C:624 | (51.05, 30.28, 75.05) | |
| 12:67699388 | V>A | C:647 | (54.51, 20.31, 85.97) | |
| 12:67699390 | L>V | C:648 | (56.41, 21.72, 89.75) | |
| 12:67699394 | G>A | C:649 | (60.30, 20.79, 87.84) | |
| 12:67699405 | P>T | C:653 | (62.39, 26.43, 86.20) | |
| 12:67699406 | rs148465905 | P>R | C:653 | (62.39, 26.43, 86.20) |
| 12:67699454 | G>A | C:669 | (52.43, 36.57, 87.35) | |
| 12:67699490 | Y>C | C:681 | (51.53, 22.42, 94.86) | |
| 12:67699516 | I>V | C:690 | (63.80, 27.51, 95.51) | |
| 12:67699518 | I>M | C:690 | (63.80, 27.51, 95.51) | |
| 12:67699531 | D>N | C:695 | (69.38, 33.58, 91.28) | |
| 12:67699532 | D>G | C:695 | (69.38, 33.58, 91.28) | |
| 12:67699543 | rs367835104 | P>S | C:699 | (66.60, 42.58, 89.98) |
| 12:67699558 | rs200709593 | S>G | C:704 | (61.37, 51.23, 90.38) |
| 12:67699588 | S>G | C:714 | (55.19, 37.59, 99.08) | |
| 12:67699589 | rs150595099 | S>N | C:714 | (55.19, 37.59, 99.08) |
| 12:67699613 | V>A | C:722 | (56.48, 26.90, 103.47) | |
| 12:67699633 | K>E | C:729 | (70.61, 32.67, 98.60) | |
| 12:67699655 | rs200159113 | N>S | C:736 | (72.17, 43.17, 100.97) |
| 12:67699677 | R>S | C:743 | (68.26, 52.55, 103.50) | |
| 12:67699681 | P>S | C:745 | (61.81, 57.63, 99.78) | |
| 12:67699711 | M>V | C:755 | (59.50, 44.75, 103.85) | |
| 12:67699730 | COSM1660970 | A>V | C:761 | (59.03, 35.41, 108.95) |
| 12:67699738 | rs375413037 | V>I | C:764 | (60.57, 32.77, 113.62) |
| 12:67699741 | T>A | C:765 | (63.56, 31.02, 110.97) | |
| 12:67699745 | G>A | C:766 | (66.35, 30.66, 112.58) | |
| 12:67699754 | N>S | C:769 | (74.43, 35.13, 110.24) | |
| 12:67699777 | rs371351780 COSM2098861 |
R>C | C:777 | (73.51, 44.52, 114.27) |
| 12:67699778 | R>H | C:777 | (73.51, 44.52, 114.27) | |
| 12:67699782 | M>I | C:778 | (71.46, 44.92, 108.53) | |
| 12:67699847 | A>G | C:800 | (60.96, 51.84, 112.88) | |
| 12:67699856 | rs12580996 | V>A | C:803 | (62.65, 47.76, 114.60) |
| 12:67699864 | L>V | C:806 | (61.99, 42.26, 113.93) | |
| 12:67699871 | R>L | C:808 | (54.76, 42.93, 116.97) | |
| 12:67699879 | rs557252970 | P>T | C:811 | (59.14, 39.19, 122.71) |
| 12:67699885 | E>Q | C:813 | (63.08, 44.04, 124.82) | |
| 12:67699886 | E>G | C:813 | (63.08, 44.04, 124.82) | |
| 12:67699895 | A>D | C:816 | (66.57, 47.47, 122.90) | |
| 12:67699900 | V>I | C:818 | (66.57, 50.39, 127.60) | |
| 12:67699903 | rs374777050 | G>S | C:819 | (68.76, 51.03, 124.26) |
| 12:67699925 | K>R | C:826 | (73.62, 59.25, 125.74) | |
| 12:67699940 | T>I | C:831 | (73.71, 61.74, 116.00) | |
| 12:67699972 | L>V | C:842 | (60.65, 54.07, 121.44) | |
| 12:67699981 | V>I | C:845 | (57.57, 49.26, 119.65) | |
| 12:67699993 | I>V | C:849 | (54.62, 45.99, 122.96) | |
| 12:67700006 | G>A | C:853 | (57.73, 50.03, 132.53) | |
| 12:67700014 | E>K | C:856 | (64.15, 56.63, 132.64) | |
| 12:67700050 | P>T | C:868 | (67.19, 71.97, 119.02) | |
| 12:67700066 | K>R | C:873 | (60.55, 69.18, 118.94) | |
| 12:67700074 | A>S | C:876 | (58.61, 63.02, 120.47) | |
| 12:67700101 | V>M | C:885 | (48.41, 53.07, 122.28) | |
| 12:67700114 | P>L | C:889 | (45.66, 53.16, 130.99) | |
| 12:67700119 | Y>H | C:891 | (51.59, 55.72, 128.94) | |
| 12:67700125 | COSM4044384 | P>S | C:893 | (46.01, 59.75, 131.95) |
| 12:67700126 | P>Q | C:893 | (46.01, 59.75, 131.95) | |
| 12:67700207 | A>V | C:920 | (44.14, 53.73, 118.85) | |
| 12:67700230 | Y>H | C:928 | (40.03, 57.13, 128.78) | |
| 12:67700236 | COSM1747206 | E>K | C:930 | (33.11, 62.34, 127.85) |
| 12:67700299 | V>F | C:951 | (42.30, 71.65, 119.86) | |
| 12:67701180 | S>L | C:978 | (33.63, 82.72, 122.38) | |
| 12:67701186 | COSM468816 | Y>C | C:980 | (39.01, 82.97, 120.91) |
| 12:67701201 | V>G | C:985 | (33.46, 74.81, 116.47) | |
| 12:67701207 | T>M | C:987 | (38.05, 74.80, 112.90) | |
| 12:67701245 | I>V | C:1000 | (29.96, 61.84, 109.20) | |
| 12:67703711 | D>V | C:1019 | (31.94, 89.18, 114.16) | |
| 12:67703737 | V>I | C:1028 | (38.67, 78.19, 105.38) | |
| 12:67703767 | P>S | C:1038 | (31.00, 69.67, 96.91) | |
| 12:67703807 | rs199801743 | H>R | C:1051 | (27.28, 86.09, 102.88) |
| 12:67703816 | N>S | C:1054 | (29.80, 90.47, 100.90) | |
| 12:67703820 | E>D | C:1055 | (34.12, 89.04, 103.20) | |
| 12:67703834 | K>R | C:1060 | (37.74, 101.69, 103.61) | |
| 12:67704038 | D>G | C:1101 | (25.62, 84.53, 88.77) | |
| 12:67704041 | I>N | C:1102 | (28.41, 83.37, 85.40) | |
| 12:67705543 | R>L | C:1144 | (33.83, 95.73, 83.43) | |
| 12:67705575 | T>A | C:1155 | (51.98, 100.83, 86.92) | |
| 12:67706471 | T>S | C:1185 | (42.97, 82.74, 73.20) | |
| 12:67706476 | rs140637003 | P>S | C:1187 | (36.82, 83.78, 70.27) |
| 12:67706480 | E>G | C:1188 | (39.89, 86.39, 67.03) | |
| 12:67706482 | rs371413162 | A>T | C:1189 | (35.67, 89.13, 69.30) |
| 12:67706489 | K>R | C:1191 | (40.85, 91.64, 68.33) | |
| 12:67706520 | Q>H | C:1201 | (58.28, 100.14, 77.98) | |
| 12:67706542 | rs201672856 | A>T | C:1209 | (55.07, 85.61, 77.95) |
| 12:67706543 | rs144591336 | A>V | C:1209 | (55.07, 85.61, 77.95) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 12:67688855 | COSM2098830 | R>H | C:137 | (32.02, 85.19, 37.35) |
| 12:67691247 | COSM2152289 | L>F | C:184 | (14.79, 77.10, 48.07) |
| 12:67692752 | COSM1747205 | H>D | C:289 | (4.78, 69.62, 72.66) |
| 12:67692780 | COSM1705906 | L>P | C:298 | (5.57, 54.96, 65.60) |
| 12:67696163 | COSM1199494 | A>V | C:354 | (11.83, 55.89, 65.60) |
| 12:67699099 | COSM1363783 | R>C | C:551 | (32.38, 25.37, 89.52) |
| 12:67699197 | COSM1196227 | Q>H | C:583 | (46.84, 34.13, 69.07) |
| 12:67700236 | COSM1747206 | E>K | C:930 | (33.11, 62.34, 127.85) |
| 12:67701272 | COSM1606537 | G>C | C:1009 | (25.20, 75.69, 107.90) |