General Structure Information
| PDB ID | 2xwj |
| HGNC Gene Label(s) | C3 |
| Structure Name | crystal structure of complement c3b in complex with factor b |
| Resolution | 4.0Å |
| Reference | AUTH F.FORNERIS,D.RICKLIN,J.WU,A.TZEKOU,R.S.WALLACE,J.D.LAMBRIS,AUTH 2 P.GROSTITL STRUCTURES OF C3B IN COMPLEX WITH FACTORS B AND D GIVETITL 2 INSIGHT INTO COMPLEMENT CONVERTASE FORMATION.REF SCIENCE V. 330 1816 2010REFN ISSN 0036-8075PMID 21205667DOI 10.1126/SCIENCE.1195821 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 901 |
| Number Of SNVs | 182 |
| Number Of Permutations | 90993 |
| Optimal Distance Threshold | 53.0 |
| K Statistic | 0.446 |
| p-value | 0.538 |
COSMIC
| Number Of Residues | 901 |
| Number Of SNVs | 18 |
| Number Of Permutations | 30002 |
| Optimal Distance Threshold | 33.0 |
| K Statistic | 0.373 |
| p-value | 0.166 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 182 |
| Number Of COSMIC SNVs | 17 |
| Optimal Distance Threshold | 35.0 |
| K Statistic | 0.117 |
| p-value | 0.45 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:6702552 | COSM1737599 CM108968 |
V>I | D:740 | (128.09, -87.17, -54.17) |
| 19:6702500 | rs200046246 | K>R | D:757 | (129.47, -53.48, -71.65) |
| 19:6702221 | COSM3363066 | I>N | D:764 | (123.15, -47.40, -62.37) |
| 19:6702215 | rs377113526 | T>M | D:766 | (122.88, -54.17, -63.62) |
| 19:6702213 | K>Q | D:767 | (126.38, -58.03, -64.63) | |
| 19:6702205 | M>I | D:769 | (127.08, -63.05, -62.09) | |
| 19:6702201 | I>L | D:771 | (127.97, -67.98, -58.95) | |
| 19:6702153 | rs571668266 | M>L | D:787 | (138.57, -49.16, -62.25) |
| 19:6702149 | S>L | D:788 | (135.77, -45.94, -63.96) | |
| 19:6702139 | K>N | D:791 | (132.92, -41.76, -61.97) | |
| 19:6697752 | D>N | D:810 | (132.72, -80.96, -39.30) | |
| 19:6697736 | Y>S | D:815 | (149.31, -78.73, -41.76) | |
| 19:6697737 | Y>H | D:815 | (149.31, -78.73, -41.76) | |
| 19:6697724 | COSM179555 | R>Q | D:819 | (155.63, -92.56, -41.41) |
| 19:6697719 | COSM3893826 | E>K | D:821 | (152.50, -91.72, -35.12) |
| 19:6697703 | R>Q | D:826 | (137.02, -86.32, -32.92) | |
| 19:6697698 | rs544858538 | V>I | D:828 | (131.10, -83.69, -35.95) |
| 19:6697682 | rs199784156 | R>Q | D:833 | (115.97, -81.64, -39.24) |
| 19:6697683 | COSM4082603 | R>W | D:833 | (115.97, -81.64, -39.24) |
| 19:6697679 | Q>R | D:834 | (113.76, -76.96, -34.61) | |
| 19:6697665 | K>Q | D:839 | (118.48, -94.28, -37.56) | |
| 19:6697563 | rs11569472 | R>K | D:841 | (124.68, -96.70, -41.97) |
| 19:6697548 | H>P | D:846 | (139.97, -99.13, -47.40) | |
| 19:6697511 | R>S | D:858 | (135.94, -105.60, -42.43) | |
| 19:6697495 | rs149395057 | V>I | D:864 | (124.05, -93.22, -34.22) |
| 19:6697485 | rs550715718 | P>H | D:867 | (119.70, -85.61, -30.95) |
| 19:6697473 | COSM4082602 | S>L | D:871 | (126.07, -82.63, -32.07) |
| 19:6697450 | V>M | D:879 | (147.78, -95.82, -38.95) | |
| 19:6697446 | P>L | D:880 | (149.38, -93.04, -41.06) | |
| 19:6697439 | K>N | D:882 | (151.80, -93.82, -47.98) | |
| 19:6697438 | T>A | D:883 | (154.33, -90.40, -46.96) | |
| 19:6697405 | V>I | D:894 | (119.28, -90.73, -42.75) | |
| 19:6697372 | K>E | D:905 | (138.58, -82.88, -45.93) | |
| 19:6697357 | COSM1002997 | V>M | D:910 | (155.10, -85.71, -41.86) |
| 19:6696669 | COSM3541005 | P>L | D:911 | (157.93, -87.81, -42.37) |
| 19:6696633 | COSM3960664 | R>H | D:923 | (181.84, -70.26, -49.07) |
| 19:6696616 | COSM1002996 | R>C | D:929 | (189.31, -59.50, -51.69) |
| 19:6696610 | G>S | D:931 | (191.16, -64.34, -57.15) | |
| 19:6696606 | rs139864704 | R>H | D:932 | (192.16, -67.38, -59.34) |
| 19:6696471 | rs375348178 | V>L | D:935 | (188.44, -66.13, -62.19) |
| 19:6696456 | I>L | D:940 | (180.35, -76.38, -51.96) | |
| 19:6696437 | S>N | D:946 | (174.39, -88.76, -40.77) | |
| 19:6696399 | COSM1002994 | L>I | D:959 | (170.97, -68.32, -52.07) |
| 19:6694633 | A>V | D:966 | (177.30, -48.08, -51.38) | |
| 19:6694629 | Q>H | D:967 | (180.75, -46.54, -50.16) | |
| 19:6694617 | rs199690614 | D>E | D:971 | (177.39, -33.10, -48.96) |
| 19:6694613 | V>I | D:973 | (178.98, -25.86, -51.15) | |
| 19:6694573 | COSM1002992 | S>L | D:986 | (186.28, -4.74, -64.07) |
| 19:6694547 | G>R | D:995 | (186.19, -10.44, -62.15) | |
| 19:6694529 | I>V | D:1001 | (183.48, -20.98, -61.29) | |
| 19:6694504 | T>M | D:1009 | (174.90, -28.24, -57.66) | |
| 19:6694500 | rs148698696 | E>D | D:1010 | (171.18, -28.17, -60.16) |
| 19:6694472 | rs550043629 CM108969 |
R>W | D:1020 | (171.50, -18.18, -64.52) |
| 19:6694465 | rs373392964 | G>E | D:1022 | (172.41, -11.39, -64.44) |
| 19:6694466 | rs146026441 | G>R | D:1022 | (172.41, -11.39, -64.44) |
| 19:6694444 | rs575541524 CM108970 |
K>M | D:1029 | (180.09, -6.66, -69.47) |
| 19:6693495 | Y>C | D:1031 | (183.45, -12.46, -74.71) | |
| 19:6693473 | rs142393845 | R>S | D:1038 | (191.82, -10.34, -79.98) |
| 19:6693474 | R>T | D:1038 | (191.82, -10.34, -79.98) | |
| 19:6693475 | R>G | D:1038 | (191.82, -10.34, -79.98) | |
| 19:6693470 | rs373054812 | Q>H | D:1039 | (197.25, -8.09, -79.10) |
| 19:6693464 | S>R | D:1041 | (198.36, -11.84, -82.09) | |
| 19:6693465 | S>N | D:1041 | (198.36, -11.84, -82.09) | |
| 19:6693466 | S>R | D:1041 | (198.36, -11.84, -82.09) | |
| 19:6693444 | V>A | D:1048 | (196.80, -2.66, -76.57) | |
| 19:6693439 | R>W | D:1050 | (202.63, -5.23, -71.18) | |
| 19:6693078 | rs545527362 | V>I | D:1061 | (191.59, -20.49, -73.18) |
| 19:6693067 | rs149259834 | F>L | D:1064 | (186.86, -17.37, -72.81) |
| 19:6693069 | rs145346653 | F>L | D:1064 | (186.86, -17.37, -72.81) |
| 19:6693065 | S>F | D:1065 | (186.67, -23.19, -72.75) | |
| 19:6693053 | COSM3707506 | N>S | D:1069 | (178.55, -24.60, -71.84) |
| 19:6693026 | L>P | D:1078 | (188.99, -20.03, -78.01) | |
| 19:6693006 | L>M | D:1085 | (200.03, -20.46, -77.00) | |
| 19:6693003 | I>V | D:1086 | (200.94, -23.93, -80.53) | |
| 19:6692952 | I>V | D:1103 | (201.15, -6.49, -63.57) | |
| 19:6690728 | R>Q | D:1112 | (203.57, -14.54, -56.58) | |
| 19:6690729 | rs138900723 | R>W | D:1112 | (203.57, -14.54, -56.58) |
| 19:6690717 | COSM1002987 | E>K | D:1116 | (209.70, -26.50, -60.30) |
| 19:6690706 | M>I | D:1119 | (207.49, -28.65, -65.04) | |
| 19:6690708 | M>V | D:1119 | (207.49, -28.65, -65.04) | |
| 19:6690705 | A>S | D:1120 | (204.42, -25.18, -64.15) | |
| 19:6690698 | rs150237828 | T>M | D:1122 | (204.45, -26.39, -69.48) |
| 19:6690696 | A>T | D:1123 | (201.19, -27.50, -67.20) | |
| 19:6690669 | rs201865666 | A>T | D:1132 | (190.11, -26.57, -76.30) |
| 19:6690654 | rs367654112 COSM3540996 |
E>K | D:1137 | (189.72, -31.31, -83.31) |
| 19:6686901 | S>G | D:1146 | (201.54, -29.45, -78.92) | |
| 19:6686895 | T>A | D:1148 | (202.57, -34.95, -77.64) | |
| 19:6686877 | rs141031839 | L>I | D:1154 | (205.64, -32.80, -68.06) |
| 19:6686862 | M>V | D:1159 | (210.10, -38.89, -61.05) | |
| 19:6686829 | rs375011405 | A>T | D:1170 | (201.56, -32.06, -63.71) |
| 19:6686816 | L>Q | D:1174 | (200.44, -36.30, -67.31) | |
| 19:6686810 | rs372976419 | Q>R | D:1176 | (194.00, -34.58, -69.24) |
| 19:6686807 | M>K | D:1177 | (197.71, -37.30, -71.69) | |
| 19:6686808 | M>V | D:1177 | (197.71, -37.30, -71.69) | |
| 19:6686778 | K>E | D:1187 | (205.91, -38.72, -56.89) | |
| 19:6686766 | T>A | D:1191 | (203.13, -36.13, -52.54) | |
| 19:6686763 | rs369949940 | A>P | D:1192 | (199.94, -36.65, -50.24) |
| 19:6686290 | rs373102036 | R>C | D:1197 | (196.95, -32.58, -46.65) |
| 19:6686278 | P>S | D:1201 | (205.46, -25.09, -46.75) | |
| 19:6686274 | rs11569534 | G>D | D:1202 | (202.81, -21.70, -47.27) |
| 19:6686262 | Y>C | D:1206 | (200.61, -20.77, -53.25) | |
| 19:6686257 | rs147113695 | V>M | D:1208 | (193.34, -24.94, -52.04) |
| 19:6686230 | A>T | D:1217 | (193.44, -36.29, -61.32) | |
| 19:6686206 | D>H | D:1225 | (189.17, -45.79, -53.95) | |
| 19:6686193 | rs149007163 | P>L | D:1229 | (189.95, -38.55, -48.73) |
| 19:6686191 | rs537300095 | V>I | D:1230 | (190.75, -35.12, -51.17) |
| 19:6686188 | V>M | D:1231 | (186.56, -34.03, -51.38) | |
| 19:6686184 | rs147866119 | R>H | D:1232 | (186.25, -36.00, -46.42) |
| 19:6686180 | rs371629277 | W>C | D:1233 | (191.86, -30.52, -47.09) |
| 19:6686158 | G>S | D:1241 | (186.43, -17.55, -52.05) | |
| 19:6686148 | Y>C | D:1244 | (195.09, -9.87, -53.13) | |
| 19:6685157 | A>T | D:1249 | (191.52, -20.88, -55.93) | |
| 19:6685135 | COSM3540995 | A>V | D:1256 | (186.74, -29.91, -58.57) |
| 19:6685129 | A>V | D:1258 | (181.82, -29.76, -59.97) | |
| 19:6685108 | P>H | D:1265 | (180.79, -42.80, -57.38) | |
| 19:6685088 | L>F | D:1272 | (179.00, -60.59, -60.02) | |
| 19:6685084 | rs369027752 | D>V | D:1273 | (179.16, -64.11, -64.45) |
| 19:6685076 | L>F | D:1276 | (176.26, -72.73, -60.33) | |
| 19:6685061 | rs567359713 | R>C | D:1281 | (172.14, -79.79, -63.34) |
| 19:6685039 | R>H | D:1288 | (175.10, -61.95, -65.86) | |
| 19:6685015 | L>R | D:1296 | (167.66, -61.09, -55.91) | |
| 19:6684830 | G>C | D:1307 | (179.54, -81.69, -55.20) | |
| 19:6684811 | rs149728739 | E>V | D:1313 | (183.89, -63.96, -64.04) |
| 19:6684812 | rs145237412 | E>K | D:1313 | (183.89, -63.96, -64.04) |
| 19:6684658 | V>M | D:1323 | (170.94, -74.53, -46.65) | |
| 19:6684629 | D>E | D:1332 | (165.51, -89.08, -29.25) | |
| 19:6684609 | F>Y | D:1339 | (151.35, -83.58, -19.91) | |
| 19:6684607 | rs368788004 | D>N | D:1340 | (153.55, -88.46, -17.71) |
| 19:6684597 | rs139915288 | V>A | D:1343 | (145.37, -95.44, -19.72) |
| 19:6684598 | rs74722736 | V>I | D:1343 | (145.37, -95.44, -19.72) |
| 19:6684591 | rs11569541 | I>T | D:1345 | (140.79, -101.31, -19.08) |
| 19:6684426 | N>T | D:1360 | (130.77, -106.70, -19.71) | |
| 19:6684423 | rs139100972 | T>N | D:1361 | (131.33, -103.23, -16.53) |
| 19:6684421 | rs372986325 | M>V | D:1362 | (135.23, -102.50, -17.84) |
| 19:6684417 | rs146172605 | I>N | D:1363 | (137.55, -100.00, -13.91) |
| 19:6684403 | rs375986016 | T>A | D:1368 | (148.25, -87.19, -14.91) |
| 19:6682238 | rs111228502 | Y>C | D:1370 | (153.50, -80.23, -16.05) |
| 19:6682235 | rs575119407 | R>Q | D:1371 | (157.95, -83.97, -17.63) |
| 19:6682236 | rs148227405 | R>W | D:1371 | (157.95, -83.97, -17.63) |
| 19:6682191 | M>V | D:1386 | (135.41, -98.41, -25.98) | |
| 19:6682167 | D>N | D:1394 | (126.23, -92.77, -10.68) | |
| 19:6682161 | L>V | D:1396 | (130.32, -88.85, -14.10) | |
| 19:6682155 | rs143070159 | Q>E | D:1398 | (131.75, -88.33, -6.73) |
| 19:6682037 | rs377358917 | A>D | D:1400 | (131.82, -83.14, -10.48) |
| 19:6682035 | N>H | D:1401 | (130.44, -82.62, -6.98) | |
| 19:6682015 | rs149627133 | I>M | D:1407 | (131.78, -82.25, -15.77) |
| 19:6681999 | D>N | D:1413 | (122.18, -83.80, -19.74) | |
| 19:6681983 | rs147116781 | D>A | D:1418 | (124.96, -90.53, -27.97) |
| 19:6681984 | D>N | D:1418 | (124.96, -90.53, -27.97) | |
| 19:6681967 | COSM3540985 | I>M | D:1423 | (135.27, -83.00, -21.94) |
| 19:6681969 | I>V | D:1423 | (135.27, -83.00, -21.94) | |
| 19:6681952 | K>N | D:1428 | (145.79, -78.29, -9.99) | |
| 19:6681954 | rs191489530 | K>Q | D:1428 | (145.79, -78.29, -9.99) |
| 19:6680274 | V>I | D:1429 | (148.04, -81.07, -12.73) | |
| 19:6680261 | E>G | D:1433 | (152.64, -87.45, -6.62) | |
| 19:6680256 | rs113742728 | D>H | D:1435 | (146.78, -86.12, -10.26) |
| 19:6680246 | rs147883317 | A>G | D:1438 | (138.23, -93.26, -11.99) |
| 19:6680237 | rs192424805 | V>A | D:1441 | (132.86, -98.18, -18.41) |
| 19:6680223 | N>H | D:1446 | (127.64, -106.41, -28.14) | |
| 19:6680209 | I>M | D:1450 | (136.01, -102.98, -30.05) | |
| 19:6680205 | P>S | D:1452 | (140.30, -98.42, -29.84) | |
| 19:6679492 | R>Q | D:1469 | (149.23, -92.50, -24.51) | |
| 19:6679493 | rs140928439 | R>W | D:1469 | (149.23, -92.50, -24.51) |
| 19:6679480 | rs368362113 | P>L | D:1473 | (140.36, -104.56, -23.90) |
| 19:6679451 | L>F | D:1483 | (153.96, -106.42, -39.79) | |
| 19:6679444 | rs551187980 | R>H | D:1485 | (161.03, -105.19, -41.87) |
| 19:6679429 | rs142868256 | R>H | D:1490 | (150.70, -105.17, -43.95) |
| 19:6679205 | Q>E | D:1499 | (137.38, -120.32, -46.41) | |
| 19:6679171 | R>Q | D:1510 | (140.84, -127.48, -53.86) | |
| 19:6679172 | rs199911426 COSM440592 |
R>W | D:1510 | (140.84, -127.48, -53.86) |
| 19:6679147 | G>E | D:1518 | (146.04, -113.24, -57.48) | |
| 19:6679145 | V>M | D:1519 | (146.86, -116.72, -57.03) | |
| 19:6678454 | R>Q | D:1526 | (158.64, -129.98, -44.40) | |
| 19:6678444 | rs144156850 | K>N | D:1529 | (161.86, -123.83, -36.50) |
| 19:6678430 | rs139381845 | N>S | D:1534 | (159.87, -110.19, -30.36) |
| 19:6678419 | COSM179546 | E>Q | D:1538 | (159.49, -116.60, -37.63) |
| 19:6678408 | M>I | D:1541 | (157.45, -123.78, -44.36) | |
| 19:6678406 | A>V | D:1542 | (159.59, -126.71, -46.95) | |
| 19:6678403 | I>T | D:1543 | (159.06, -125.68, -51.13) | |
| 19:6678386 | S>T | D:1549 | (156.08, -120.91, -60.50) | |
| 19:6678288 | E>D | D:1553 | (162.72, -117.57, -59.13) | |
| 19:6678268 | COSM1680554 | R>H | D:1560 | (161.52, -119.29, -48.53) |
| 19:6678265 | rs367971651 | T>M | D:1561 | (160.03, -117.14, -43.62) |
| 19:6678254 | P>S | D:1565 | (149.10, -112.83, -36.98) | |
| 19:6678247 | K>M | D:1567 | (144.63, -112.69, -34.17) | |
| 19:6678219 | E>D | D:1576 | (157.07, -128.90, -36.00) | |
| 19:6678220 | E>A | D:1576 | (157.07, -128.90, -36.00) | |
| 19:6678221 | E>K | D:1576 | (157.07, -128.90, -36.00) | |
| 19:6678215 | K>E | D:1578 | (152.58, -131.97, -40.01) | |
| 19:6678211 | H>R | D:1579 | (153.63, -132.36, -45.32) | |
| 19:6678202 | M>T | D:1582 | (150.45, -122.96, -48.54) | |
| 19:6678203 | M>V | D:1582 | (150.45, -122.96, -48.54) | |
| 19:6678193 | L>H | D:1585 | (147.90, -112.88, -52.88) | |
| 19:6678191 | rs200817637 | S>P | D:1586 | (151.44, -110.84, -55.11) |
| 19:6678175 | rs141661874 | G>V | D:1591 | (161.00, -107.84, -48.46) |
| 19:6678173 | E>Q | D:1592 | (163.97, -106.20, -50.38) | |
| 19:6678030 | rs2230210 | S>R | D:1597 | (159.01, -113.03, -46.17) |
| 19:6677998 | rs200816772 COSM250856 |
E>D | D:1607 | (144.75, -127.88, -47.06) |
| 19:6677985 | rs373087196 | E>K | D:1612 | (151.86, -141.63, -48.34) |
| 19:6677979 | rs139388954 | E>Q | D:1614 | (148.27, -140.17, -42.57) |
| 19:6677967 | E>K | D:1618 | (137.67, -145.23, -43.41) | |
| 19:6677963 | rs34370481 | E>G | D:1619 | (138.65, -140.69, -42.03) |
| 19:6677940 | L>F | D:1627 | (145.04, -132.84, -52.77) | |
| 19:6677901 | P>S | D:1640 | (142.84, -123.03, -66.96) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:6702545 | COSM106659 | R>Q | D:742 | (131.05, -81.90, -48.80) |
| 19:6697740 | COSM3787811 | P>T | D:814 | (145.09, -82.63, -38.41) |
| 19:6697719 | COSM3893826 | E>K | D:821 | (152.50, -91.72, -35.12) |
| 19:6697365 | COSM2727882 | L>P | D:907 | (145.70, -85.80, -44.11) |
| 19:6696664 | COSM3541004 | G>R | D:913 | (160.84, -86.31, -37.22) |
| 19:6694574 | COSM1397407 | S>P | D:986 | (186.28, -4.74, -64.07) |
| 19:6693053 | COSM3707506 | N>S | D:1069 | (178.55, -24.60, -71.84) |
| 19:6692982 | COSM568162 | D>H | D:1093 | (211.55, -28.77, -75.95) |
| 19:6692943 | COSM1526545 | E>Q | D:1106 | (197.80, -11.39, -57.53) |
| 19:6690735 | COSM138114 | G>R | D:1110 | (201.38, -21.00, -57.89) |
| 19:6690729 | COSM1397406 | R>W | D:1112 | (203.57, -14.54, -56.58) |
| 19:6690717 | COSM1002987 | E>K | D:1116 | (209.70, -26.50, -60.30) |
| 19:6690666 | COSM1613045 | K>E | D:1133 | (191.56, -31.41, -78.08) |
| 19:6686900 | COSM1613044 | S>I | D:1146 | (201.54, -29.45, -78.92) |
| 19:6686241 | COSM1613042 | Y>S | D:1213 | (195.18, -28.15, -60.59) |
| 19:6686184 | COSM179550 | R>H | D:1232 | (186.25, -36.00, -46.42) |
| 19:6684839 | COSM3540992 | E>K | D:1304 | (171.27, -85.35, -56.08) |
| 19:6684428 | COSM1198762 | K>N | D:1359 | (127.07, -106.93, -20.87) |
| 19:6682022 | COSM3540987 | R>K | D:1405 | (138.31, -83.11, -10.27) |
| 19:6679505 | COSM109497 | E>K | D:1465 | (153.07, -78.47, -25.78) |
| 19:6679429 | COSM1198769 | R>H | D:1490 | (150.70, -105.17, -43.95) |