General Structure Information
| PDB ID | 3eh1 |
| HGNC Gene Label(s) | SEC24B |
| Structure Name | crystal structure of the human copii-coat protein sec24b |
| Resolution | 1.8Å |
| Reference | AUTH J.D.MANCIAS,J.GOLDBERGTITL STRUCTURAL BASIS OF CARGO MEMBRANE PROTEINTITL 2 DISCRIMINATION BY THE HUMAN COPII COAT MACHINERY.REF EMBO J. V. 27 2918 2008REFN ISSN 0261-4189PMID 18843296DOI 10.1038/EMBOJ.2008.208 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 737 |
| Number Of SNVs | 150 |
| Number Of Permutations | 27128 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.011 |
| p-value | 0.431 |
COSMIC
| Number Of Residues | 737 |
| Number Of SNVs | 7 |
| Number Of Permutations | 3374 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.381 |
| p-value | 0.207 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 150 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.231 |
| p-value | 0.181 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:110427566 | P>L | A:524 | (62.57, 59.10, 13.41) | |
| 4:110427590 | N>S | A:532 | (69.56, 60.29, 0.46) | |
| 4:110427603 | COSM1633407 COSM1633406 |
M>I | A:536 | (74.41, 52.28, -1.27) |
| 4:110427613 | W>R | A:540 | (70.67, 42.26, 4.51) | |
| 4:110427633 | L>F | A:546 | (64.08, 35.69, 18.92) | |
| 4:110427635 | N>S | A:547 | (66.89, 34.11, 22.22) | |
| 4:110431172 | rs532212635 COSM1049933 COSM1049932 |
R>W | A:561 | (60.46, 36.87, 4.43) |
| 4:110431187 | N>H | A:566 | (57.22, 42.12, 16.07) | |
| 4:110431188 | N>S | A:566 | (57.22, 42.12, 16.07) | |
| 4:110431200 | T>I | A:570 | (45.23, 41.48, 19.22) | |
| 4:110431205 | A>S | A:572 | (42.96, 44.98, 17.39) | |
| 4:110431216 | N>K | A:575 | (43.01, 46.10, 12.82) | |
| 4:110431220 | rs552342621 | A>T | A:577 | (48.55, 48.87, 12.20) |
| 4:110431259 | rs200618525 | D>N | A:590 | (67.81, 25.07, -5.28) |
| 4:110431266 | T>M | A:592 | (73.74, 24.52, -0.16) | |
| 4:110433119 | COSM1049937 COSM1049936 |
P>A | A:595 | (68.97, 18.49, 6.86) |
| 4:110433122 | V>M | A:596 | (68.10, 14.20, 4.98) | |
| 4:110433153 | rs574648225 COSM404624 COSM1049939 COSM404623 COSM1049938 |
R>Q | A:606 | (48.02, 14.66, 20.93) |
| 4:110433155 | S>T | A:607 | (46.27, 17.53, 18.28) | |
| 4:110433165 | T>M | A:610 | (53.11, 20.10, 14.32) | |
| 4:110433170 | I>V | A:612 | (59.43, 17.79, 16.30) | |
| 4:110433177 | rs199831861 | P>R | A:614 | (63.62, 23.80, 16.80) |
| 4:110433191 | I>V | A:619 | (58.02, 18.67, 29.93) | |
| 4:110433192 | I>T | A:619 | (58.02, 18.67, 29.93) | |
| 4:110433196 | rs201922087 | D>E | A:620 | (60.05, 14.75, 30.62) |
| 4:110433200 | R>C | A:622 | (59.27, 9.39, 28.29) | |
| 4:110433201 | R>H | A:622 | (59.27, 9.39, 28.29) | |
| 4:110433225 | rs189495330 | Y>C | A:630 | (50.30, 25.75, 23.30) |
| 4:110433230 | V>I | A:632 | (51.76, 17.07, 25.98) | |
| 4:110433236 | COSM201097 COSM201098 |
D>N | A:634 | (54.59, 10.88, 24.42) |
| 4:110434947 | E>K | A:650 | (70.73, 13.75, 24.54) | |
| 4:110434949 | E>D | A:650 | (70.73, 13.75, 24.54) | |
| 4:110434955 | H>Q | A:652 | (67.99, 17.92, 23.44) | |
| 4:110434975 | N>S | A:659 | (67.99, 21.96, 11.98) | |
| 4:110434980 | T>A | A:661 | (65.20, 23.55, 7.14) | |
| 4:110434991 | COSM4121285 COSM4121284 |
F>L | A:664 | (61.29, 14.41, 7.52) |
| 4:110434993 | rs200771659 | I>S | A:665 | (62.75, 9.87, 3.79) |
| 4:110437688 | COSM4121289 COSM4121288 |
R>H | A:673 | (49.54, 6.96, -6.47) |
| 4:110437720 | L>V | A:684 | (53.82, 21.21, -29.57) | |
| 4:110437735 | N>H | A:689 | (51.88, 31.75, -36.22) | |
| 4:110437748 | A>G | A:693 | (58.13, 31.50, -34.99) | |
| 4:110437762 | rs76859998 | I>V | A:698 | (64.92, 26.50, -29.63) |
| 4:110437772 | Q>L | A:701 | (68.76, 21.31, -29.83) | |
| 4:110441548 | I>T | A:718 | (58.41, 11.21, -22.90) | |
| 4:110441569 | S>N | A:725 | (43.03, 21.43, -37.58) | |
| 4:110441574 | I>V | A:727 | (44.76, 16.51, -32.51) | |
| 4:110441587 | rs200324896 | N>S | A:731 | (53.35, 5.19, -31.59) |
| 4:110441604 | rs73838807 | S>A | A:737 | (61.59, 1.89, -36.94) |
| 4:110441605 | S>L | A:737 | (61.59, 1.89, -36.94) | |
| 4:110441617 | rs562894745 | M>T | A:741 | (51.61, 11.11, -37.12) |
| 4:110441632 | D>G | A:746 | (37.36, 12.38, -32.15) | |
| 4:110442287 | T>A | A:754 | (47.25, 2.24, -25.11) | |
| 4:110442291 | rs549249076 | P>L | A:755 | (48.34, 5.19, -22.84) |
| 4:110442296 | rs563911259 | S>G | A:757 | (52.07, 3.72, -27.00) |
| 4:110442302 | rs377350570 | L>V | A:759 | (53.07, 8.47, -22.27) |
| 4:110442326 | E>Q | A:767 | (67.44, 6.28, -30.53) | |
| 4:110442616 | T>N | A:781 | (57.88, 23.46, -43.55) | |
| 4:110442619 | N>S | A:782 | (55.06, 26.63, -45.80) | |
| 4:110442633 | rs573336049 | H>Y | A:787 | (42.62, 26.75, -37.52) |
| 4:110442640 | A>V | A:789 | (43.18, 23.16, -31.52) | |
| 4:110442693 | COSM447218 COSM447217 |
R>C | A:807 | (56.48, 18.65, -16.77) |
| 4:110442694 | COSM268198 COSM332937 COSM332936 COSM268199 |
R>H | A:807 | (56.48, 18.65, -16.77) |
| 4:110442732 | rs371546007 | A>T | A:820 | (36.99, 23.69, -27.38) |
| 4:110446001 | D>Y | A:846 | (35.09, 28.10, -17.28) | |
| 4:110446016 | rs202092664 | L>F | A:851 | (41.86, 21.84, -18.05) |
| 4:110446030 | C>W | A:855 | (44.75, 18.25, -14.21) | |
| 4:110446032 | rs370028583 COSM1225069 COSM1225068 |
S>L | A:856 | (45.06, 19.00, -10.17) |
| 4:110446046 | A>T | A:861 | (50.89, 20.00, -14.40) | |
| 4:110446509 | M>I | A:880 | (46.51, 26.22, -18.37) | |
| 4:110446522 | rs373550185 | A>S | A:885 | (50.93, 24.28, -10.21) |
| 4:110446529 | C>Y | A:887 | (54.63, 27.44, -15.03) | |
| 4:110446540 | Y>H | A:891 | (58.87, 33.67, -24.37) | |
| 4:110446544 | P>L | A:892 | (56.61, 38.72, -26.47) | |
| 4:110446546 | S>T | A:893 | (56.92, 38.95, -30.70) | |
| 4:110446549 | rs201986741 | F>I | A:894 | (59.63, 33.67, -30.51) |
| 4:110446559 | T>I | A:897 | (65.31, 35.43, -37.48) | |
| 4:110446565 | N>S | A:899 | (62.96, 38.61, -31.60) | |
| 4:110446568 | P>R | A:900 | (66.93, 37.05, -31.79) | |
| 4:110446575 | rs181886007 | Q>H | A:902 | (62.51, 36.51, -26.93) |
| 4:110446601 | rs370209995 | K>I | A:911 | (69.31, 24.13, -19.26) |
| 4:110446604 | COSM1225073 COSM1225072 |
R>Q | A:912 | (66.32, 25.94, -13.95) |
| 4:110446639 | M>V | A:924 | (52.01, 23.18, 0.83) | |
| 4:110446640 | M>T | A:924 | (52.01, 23.18, 0.83) | |
| 4:110447384 | L>F | A:932 | (47.39, 32.61, 13.98) | |
| 4:110447387 | S>A | A:933 | (44.32, 31.91, 10.28) | |
| 4:110447390 | rs200347456 | M>V | A:934 | (46.00, 30.62, 7.07) |
| 4:110447400 | F>Y | A:937 | (46.75, 30.55, 0.40) | |
| 4:110447411 | F>L | A:941 | (47.39, 27.44, -5.56) | |
| 4:110447421 | COSM1131307 COSM1131306 |
R>H | A:944 | (41.15, 21.09, -1.82) |
| 4:110447441 | L>V | A:951 | (51.20, 21.56, -5.34) | |
| 4:110447454 | N>S | A:955 | (58.78, 24.62, -9.14) | |
| 4:110447472 | A>V | A:961 | (51.52, 33.94, -0.47) | |
| 4:110447475 | V>A | A:962 | (49.47, 33.76, 3.02) | |
| 4:110447477 | rs374807980 COSM1197245 COSM1197244 |
Q>K | A:963 | (46.16, 37.71, 4.15) |
| 4:110447486 | I>V | A:966 | (44.42, 37.40, 14.76) | |
| 4:110447487 | I>T | A:966 | (44.42, 37.40, 14.76) | |
| 4:110447507 | T>S | A:973 | (52.55, 32.47, 24.35) | |
| 4:110447508 | T>S | A:973 | (52.55, 32.47, 24.35) | |
| 4:110447513 | COSM4121297 COSM4121296 |
L>V | A:975 | (56.88, 32.92, 21.24) |
| 4:110447514 | L>S | A:975 | (56.88, 32.92, 21.24) | |
| 4:110448484 | COSM4121299 COSM4121298 |
R>Q | A:991 | (55.96, 10.61, -1.02) |
| 4:110448537 | rs201096847 | V>I | A:1009 | (54.21, 46.33, 15.11) |
| 4:110448538 | V>A | A:1009 | (54.21, 46.33, 15.11) | |
| 4:110448544 | COSM4121301 COSM4121300 |
A>V | A:1011 | (59.83, 47.58, 14.67) |
| 4:110448555 | V>I | A:1015 | (59.12, 46.80, 3.57) | |
| 4:110448567 | I>L | A:1019 | (55.40, 45.75, -1.04) | |
| 4:110448585 | M>V | A:1025 | (46.27, 42.07, -1.64) | |
| 4:110451448 | V>A | A:1027 | (46.07, 41.10, -8.49) | |
| 4:110451454 | R>Q | A:1029 | (40.70, 45.17, -4.65) | |
| 4:110451459 | rs201176208 | V>I | A:1031 | (40.21, 40.88, -11.05) |
| 4:110451463 | S>L | A:1032 | (37.29, 41.62, -7.99) | |
| 4:110451471 | L>M | A:1035 | (43.00, 49.20, -11.71) | |
| 4:110451477 | D>N | A:1037 | (39.21, 49.98, -6.29) | |
| 4:110451484 | R>K | A:1039 | (46.11, 52.64, -8.69) | |
| 4:110451514 | rs199826133 | S>L | A:1049 | (50.53, 53.24, 7.96) |
| 4:110451520 | rs141827728 | S>F | A:1051 | (48.22, 57.76, 10.40) |
| 4:110451525 | rs201301928 | Y>H | A:1053 | (54.65, 56.37, 13.17) |
| 4:110451526 | Y>C | A:1053 | (54.65, 56.37, 13.17) | |
| 4:110451528 | G>S | A:1054 | (51.66, 59.08, 14.42) | |
| 4:110451534 | rs546293275 | T>A | A:1056 | (52.72, 56.32, 18.08) |
| 4:110451568 | A>V | A:1067 | (58.63, 57.48, 9.15) | |
| 4:110451575 | S>R | A:1069 | (63.40, 53.20, 9.47) | |
| 4:110451576 | S>T | A:1070 | (60.76, 50.32, 9.06) | |
| 4:110451583 | K>T | A:1072 | (63.12, 54.50, 4.91) | |
| 4:110451598 | Y>S | A:1077 | (59.60, 49.86, -2.26) | |
| 4:110451600 | rs370739306 | V>I | A:1078 | (53.57, 52.06, -3.21) |
| 4:110451612 | L>F | A:1082 | (51.06, 52.56, -8.36) | |
| 4:110452542 | rs201290029 | K>I | A:1085 | (53.47, 46.35, -17.06) |
| 4:110452554 | T>M | A:1089 | (47.09, 54.22, -15.58) | |
| 4:110452569 | R>Q | A:1094 | (48.88, 45.38, -25.70) | |
| 4:110452581 | R>H | A:1098 | (48.12, 45.29, -17.29) | |
| 4:110452583 | rs544664623 COSM50662 |
V>I | A:1099 | (48.05, 39.41, -17.44) |
| 4:110452592 | M>L | A:1102 | (48.96, 40.54, -12.74) | |
| 4:110452603 | I>M | A:1105 | (52.91, 39.55, -8.69) | |
| 4:110452625 | L>V | A:1113 | (58.74, 40.53, -7.18) | |
| 4:110452634 | M>V | A:1116 | (59.84, 42.87, -11.49) | |
| 4:110452636 | M>I | A:1116 | (59.84, 42.87, -11.49) | |
| 4:110452652 | rs371890529 COSM1225067 COSM1225066 |
Y>H | A:1122 | (73.34, 48.94, -10.65) |
| 4:110452671 | T>I | A:1128 | (85.93, 49.82, -9.32) | |
| 4:110453811 | N>T | A:1136 | (82.27, 32.00, -9.23) | |
| 4:110453812 | N>K | A:1136 | (82.27, 32.00, -9.23) | |
| 4:110453834 | P>S | A:1144 | (76.47, 51.90, -6.02) | |
| 4:110453876 | A>S | A:1158 | (76.66, 54.41, -18.09) | |
| 4:110454749 | V>I | A:1166 | (64.84, 43.12, -18.33) | |
| 4:110454783 | rs376418277 | N>S | A:1177 | (84.27, 57.62, -26.47) |
| 4:110454815 | COSM3702508 COSM3702507 |
N>D | A:1188 | (81.34, 57.09, -32.10) |
| 4:110454821 | A>T | A:1190 | (76.94, 57.44, -33.58) | |
| 4:110454825 | S>L | A:1191 | (78.58, 54.05, -33.95) | |
| 4:110454827 | I>V | A:1192 | (76.09, 53.09, -30.77) | |
| 4:110454830 | P>T | A:1193 | (74.09, 50.09, -32.72) | |
| 4:110459652 | rs183152596 | H>Y | A:1198 | (73.90, 40.75, -27.65) |
| 4:110459654 | H>Q | A:1198 | (73.90, 40.75, -27.65) | |
| 4:110459656 | L>P | A:1199 | (77.96, 43.31, -24.05) | |
| 4:110459661 | E>K | A:1201 | (83.95, 38.10, -25.49) | |
| 4:110459691 | R>G | A:1211 | (82.18, 40.62, -19.83) | |
| 4:110459692 | rs368092039 | R>K | A:1211 | (82.18, 40.62, -19.83) |
| 4:110459697 | F>L | A:1213 | (77.69, 43.69, -12.50) | |
| 4:110459736 | rs199667887 | I>V | A:1226 | (66.63, 40.18, -22.77) |
| 4:110460722 | E>A | A:1233 | (69.03, 58.45, -30.51) | |
| 4:110460730 | A>P | A:1236 | (63.88, 52.87, -26.87) | |
| 4:110460766 | R>W | A:1248 | (55.11, 65.06, -13.54) | |
| 4:110460767 | rs199716124 | R>Q | A:1248 | (55.11, 65.06, -13.54) |
| 4:110460791 | Y>C | A:1256 | (57.48, 66.90, -3.72) | |
| 4:110460796 | F>L | A:1258 | (52.87, 59.47, -3.43) | |
| 4:110460801 | L>F | A:1259 | (55.33, 62.19, -0.21) | |
| 4:110460819 | Q>H | A:1265 | (44.62, 62.14, 1.99) | |
| 4:110460824 | C>Y | A:1267 | (45.84, 65.88, 7.41) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:110431172 | COSM1049932 | R>W | A:561 | (60.46, 36.87, 4.43) |
| 4:110441545 | COSM1753483 | R>T | A:717 | (55.88, 7.10, -19.06) |
| 4:110441604 | COSM3714796 | S>P | A:737 | (61.59, 1.89, -36.94) |
| 4:110441621 | COSM732006 | L>F | A:742 | (48.30, 8.90, -34.65) |
| 4:110447413 | COSM263562 | F>L | A:941 | (47.39, 27.44, -5.56) |
| 4:110447421 | COSM1131306 | R>H | A:944 | (41.15, 21.09, -1.82) |
| 4:110448484 | COSM4121298 | R>Q | A:991 | (55.96, 10.61, -1.02) |