General Structure Information
| PDB ID | 2xwb |
| HGNC Gene Label(s) | C3 |
| Structure Name | crystal structure of complement c3b in complex with factors b and d |
| Resolution | 3.49Å |
| 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 | 640 |
| Number Of SNVs | 152 |
| Number Of Permutations | 37134 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.188 |
| p-value | 0.467 |
COSMIC
| Number Of Residues | 640 |
| Number Of SNVs | 9 |
| Number Of Permutations | 4400 |
| Optimal Distance Threshold | 38.0 |
| K Statistic | 0.611 |
| p-value | 0.631 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 152 |
| Number Of COSMIC SNVs | 9 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.062 |
| p-value | 0.654 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:6719394 | N>I | A:10 | (76.40, -90.27, -2.70) | |
| 19:6719374 | COSM3541026 | E>K | A:17 | (82.94, -85.66, 11.73) |
| 19:6719371 | E>K | A:18 | (81.04, -87.71, 6.62) | |
| 19:6719364 | M>T | A:20 | (81.36, -95.48, 7.80) | |
| 19:6719347 | rs141447426 | D>N | A:26 | (75.03, -113.37, 9.33) |
| 19:6719341 | Q>E | A:28 | (78.96, -116.45, 14.65) | |
| 19:6719308 | D>N | A:39 | (94.03, -90.55, -2.89) | |
| 19:6719296 | rs539992721 | K>Q | A:43 | (97.94, -96.39, -2.04) |
| 19:6719280 | S>F | A:48 | (91.50, -91.00, 7.53) | |
| 19:6719248 | N>D | A:59 | (72.87, -106.88, 15.37) | |
| 19:6719233 | V>L | A:64 | (82.84, -95.39, 12.19) | |
| 19:6719223 | T>K | A:67 | (87.90, -85.91, 9.55) | |
| 19:6718408 | E>K | A:73 | (97.61, -82.21, -1.93) | |
| 19:6718389 | rs373754302 | G>E | A:79 | (88.05, -78.85, -12.62) |
| 19:6718386 | rs554587967 COSM3971344 |
R>H | A:80 | (87.24, -82.92, -15.09) |
| 19:6718387 | rs2230199 | R>G | A:80 | (87.24, -82.92, -15.09) |
| 19:6718378 | F>L | A:83 | (86.73, -88.90, -7.09) | |
| 19:6718369 | V>M | A:86 | (86.41, -95.51, 0.94) | |
| 19:6718350 | rs552130054 | T>I | A:92 | (90.69, -111.02, 5.45) |
| 19:6718320 | rs201985442 | S>N | A:102 | (82.77, -81.69, -1.94) |
| 19:6718303 | L>V | A:108 | (78.65, -68.00, 3.36) | |
| 19:6718291 | T>A | A:112 | (72.54, -55.79, 4.41) | |
| 19:6718264 | S>A | A:121 | (76.40, -44.06, 2.37) | |
| 19:6718258 | rs199970572 | V>I | A:123 | (77.38, -50.71, 3.32) |
| 19:6718170 | Y>H | A:125 | (79.32, -56.04, 4.80) | |
| 19:6718146 | rs147859257 | K>Q | A:133 | (76.05, -79.54, 10.88) |
| 19:6718118 | M>T | A:142 | (87.78, -64.28, -0.42) | |
| 19:6718119 | M>V | A:142 | (87.78, -64.28, -0.42) | |
| 19:6718110 | I>F | A:145 | (82.37, -55.13, -3.88) | |
| 19:6714453 | P>L | A:148 | (76.23, -52.39, -11.45) | |
| 19:6714438 | V>A | A:153 | (85.52, -52.33, -6.92) | |
| 19:6714429 | D>G | A:156 | (89.28, -57.90, 1.06) | |
| 19:6714405 | L>P | A:164 | (81.53, -66.75, 17.03) | |
| 19:6714400 | V>I | A:166 | (80.51, -63.05, 12.91) | |
| 19:6714378 | I>T | A:173 | (78.90, -45.55, -1.11) | |
| 19:6714367 | rs147549358 | V>I | A:177 | (78.45, -43.87, -7.44) |
| 19:6714250 | rs368178889 | Q>H | A:181 | (71.00, -53.52, -8.09) |
| 19:6714244 | K>N | A:183 | (76.55, -58.19, -6.65) | |
| 19:6714239 | rs201681678 | R>Q | A:185 | (80.29, -62.25, -5.91) |
| 19:6714236 | rs375392109 | A>V | A:186 | (81.39, -64.58, -1.13) |
| 19:6714230 | rs372060158 | Y>C | A:188 | (84.04, -70.63, 2.77) |
| 19:6714228 | rs149906766 | E>K | A:189 | (90.83, -69.76, 0.53) |
| 19:6714225 | rs367806364 | N>Y | A:190 | (89.21, -74.15, 0.71) |
| 19:6714195 | rs537531577 | F>I | A:200 | (73.90, -53.14, -2.41) |
| 19:6714185 | K>T | A:203 | (68.15, -44.54, -5.91) | |
| 19:6714088 | P>A | A:208 | (58.55, -42.25, 2.26) | |
| 19:6714079 | rs373896614 | E>K | A:211 | (52.57, -47.92, 3.92) |
| 19:6714034 | E>K | A:226 | (30.50, -61.11, -15.57) | |
| 19:6714027 | G>A | A:228 | (36.26, -58.59, -12.08) | |
| 19:6714018 | V>A | A:231 | (41.85, -53.51, -6.13) | |
| 19:6714015 | T>I | A:232 | (42.02, -52.69, -1.89) | |
| 19:6714013 | I>V | A:233 | (43.80, -48.68, -2.33) | |
| 19:6714007 | rs200918899 | A>T | A:235 | (46.98, -45.82, 3.00) |
| 19:6713510 | COSM1003009 | G>R | A:240 | (49.44, -45.80, 11.49) |
| 19:6713488 | A>V | A:247 | (44.30, -42.21, -6.10) | |
| 19:6713468 | rs374873555 | Q>E | A:254 | (53.41, -59.35, -17.39) |
| 19:6713463 | rs140126161 | D>E | A:255 | (53.02, -62.51, -21.88) |
| 19:6713458 | E>A | A:257 | (60.26, -61.19, -20.18) | |
| 19:6713459 | rs146167974 | E>K | A:257 | (60.26, -61.19, -20.18) |
| 19:6713428 | K>R | A:267 | (40.06, -45.33, -12.75) | |
| 19:6713313 | S>L | A:275 | (40.53, -46.58, 2.19) | |
| 19:6713304 | V>A | A:278 | (39.62, -49.91, -7.84) | |
| 19:6713295 | rs551581582 | S>I | A:281 | (36.05, -53.55, -16.33) |
| 19:6713296 | rs571723479 | S>G | A:281 | (36.05, -53.55, -16.33) |
| 19:6713293 | R>W | A:282 | (35.30, -59.46, -18.81) | |
| 19:6713275 | rs139527231 | G>R | A:288 | (42.99, -54.16, -24.38) |
| 19:6713262 | rs1047286 | P>L | A:292 | (38.57, -62.38, -29.99) |
| 19:6713259 | R>Q | A:293 | (40.56, -67.21, -28.00) | |
| 19:6713238 | K>M | A:300 | (48.53, -63.81, -20.21) | |
| 19:6713231 | rs138945756 | L>F | A:302 | (46.84, -58.59, -14.60) |
| 19:6713227 | rs375264020 COSM3773213 |
V>M | A:304 | (48.22, -52.80, -10.01) |
| 19:6713224 | S>P | A:305 | (49.85, -48.72, -10.72) | |
| 19:6713215 | V>I | A:308 | (48.74, -42.02, -2.80) | |
| 19:6712610 | rs373511900 COSM179561 |
R>H | A:321 | (50.04, -56.91, -6.08) |
| 19:6712605 | rs376875885 | G>R | A:323 | (51.42, -61.21, -10.87) |
| 19:6712595 | I>N | A:326 | (44.60, -64.78, -15.71) | |
| 19:6712596 | rs141737564 | I>V | A:326 | (44.60, -64.78, -15.71) |
| 19:6712593 | V>M | A:327 | (43.80, -69.05, -13.55) | |
| 19:6712577 | Q>L | A:332 | (48.03, -75.20, -9.02) | |
| 19:6712527 | COSM3893832 | D>N | A:349 | (51.23, -93.86, -0.83) |
| 19:6712417 | V>M | A:352 | (48.87, -84.25, -3.20) | |
| 19:6712372 | V>M | A:367 | (41.86, -84.64, -3.14) | |
| 19:6712354 | COSM3541021 | D>N | A:373 | (34.67, -93.29, -5.27) |
| 19:6712348 | V>M | A:375 | (39.43, -92.39, -1.90) | |
| 19:6712329 | G>E | A:381 | (48.26, -76.48, 5.67) | |
| 19:6712327 | D>N | A:382 | (51.18, -78.42, 4.31) | |
| 19:6712321 | COSM1526543 | V>M | A:384 | (50.15, -81.89, 1.77) |
| 19:6712295 | H>Q | A:392 | (46.82, -104.47, -10.15) | |
| 19:6712290 | S>N | A:394 | (51.37, -105.39, -13.23) | |
| 19:6712269 | T>M | A:401 | (44.58, -88.56, -12.79) | |
| 19:6711204 | rs200967589 | R>C | A:403 | (40.17, -83.77, -11.27) |
| 19:6711200 | T>M | A:404 | (39.73, -80.78, -7.54) | |
| 19:6711195 | K>Q | A:406 | (36.55, -77.79, -3.60) | |
| 19:6711182 | rs532944249 | S>L | A:410 | (32.73, -76.34, -12.01) |
| 19:6711183 | rs146158711 | S>P | A:410 | (32.73, -76.34, -12.01) |
| 19:6711174 | E>K | A:413 | (35.75, -73.66, -12.78) | |
| 19:6711164 | rs374386139 | T>S | A:416 | (44.28, -81.76, -13.73) |
| 19:6711132 | V>L | A:427 | (67.29, -109.41, -7.53) | |
| 19:6711128 | G>D | A:428 | (65.29, -112.38, -9.91) | |
| 19:6711125 | N>S | A:429 | (62.37, -111.59, -11.29) | |
| 19:6711123 | rs143430438 | S>T | A:430 | (61.87, -112.51, -6.29) |
| 19:6711118 | N>K | A:431 | (58.29, -110.77, -6.84) | |
| 19:6711114 | Y>N | A:433 | (58.66, -106.03, -4.26) | |
| 19:6711092 | rs373081527 | R>H | A:440 | (51.95, -85.82, 6.40) |
| 19:6711086 | E>A | A:442 | (51.93, -80.54, 10.31) | |
| 19:6711075 | rs148820222 | G>R | A:446 | (59.15, -83.88, 20.22) |
| 19:6711072 | COSM3893829 | E>K | A:447 | (55.93, -84.63, 17.99) |
| 19:6711060 | V>I | A:451 | (57.96, -95.90, 10.57) | |
| 19:6711044 | R>L | A:456 | (54.78, -108.49, -1.90) | |
| 19:6711040 | M>I | A:457 | (58.43, -112.32, 0.88) | |
| 19:6711035 | COSM3404757 | R>H | A:459 | (54.65, -119.49, 3.65) |
| 19:6711033 | rs149692538 | A>T | A:460 | (59.98, -119.63, 1.38) |
| 19:6711027 | COSM3541020 | E>K | A:462 | (59.07, -115.42, 6.18) |
| 19:6711014 | R>P | A:466 | (64.57, -112.82, 12.32) | |
| 19:6711015 | R>C | A:466 | (64.57, -112.82, 12.32) | |
| 19:6711011 | Y>C | A:467 | (67.97, -108.10, 10.40) | |
| 19:6711000 | L>V | A:471 | (69.71, -95.47, 7.11) | |
| 19:6710844 | G>R | A:476 | (73.91, -84.67, 4.10) | |
| 19:6710823 | COSM4082614 | R>C | A:483 | (69.44, -103.40, 12.54) |
| 19:6710799 | rs139744070 | D>N | A:491 | (53.40, -109.07, 7.06) |
| 19:6710769 | rs142290953 | T>A | A:501 | (65.96, -80.24, 16.85) |
| 19:6710747 | rs367679379 | R>H | A:508 | (65.72, -88.10, 2.21) |
| 19:6710738 | A>E | A:511 | (65.11, -99.54, 4.34) | |
| 19:6710729 | T>M | A:514 | (69.74, -109.25, 3.45) | |
| 19:6710721 | G>R | A:517 | (67.03, -116.75, -1.50) | |
| 19:6710718 | rs201237210 | A>S | A:518 | (66.37, -118.01, -4.29) |
| 19:6710711 | rs143887460 | G>D | A:520 | (71.39, -118.65, -4.62) |
| 19:6710712 | rs375626292 | G>S | A:520 | (71.39, -118.65, -4.62) |
| 19:6710651 | rs200541526 | S>L | A:540 | (65.31, -69.79, 20.46) |
| 19:6709847 | V>L | A:543 | (62.57, -59.46, 20.16) | |
| 19:6709838 | G>S | A:546 | (60.00, -54.15, 28.32) | |
| 19:6709824 | D>E | A:550 | (52.30, -48.74, 28.84) | |
| 19:6709807 | G>E | A:556 | (63.80, -39.59, 22.83) | |
| 19:6709775 | H>Y | A:567 | (73.93, -70.07, 27.43) | |
| 19:6709771 | G>A | A:568 | (76.03, -68.26, 24.51) | |
| 19:6709772 | G>R | A:568 | (76.03, -68.26, 24.51) | |
| 19:6709766 | R>W | A:570 | (78.04, -63.11, 19.44) | |
| 19:6709759 | V>A | A:572 | (73.72, -59.58, 15.71) | |
| 19:6709732 | F>C | A:581 | (61.81, -52.17, 4.23) | |
| 19:6709730 | V>M | A:582 | (58.50, -48.31, 0.79) | |
| 19:6709721 | rs140637006 | K>E | A:585 | (60.10, -55.19, 0.10) |
| 19:6709713 | N>K | A:587 | (67.67, -59.03, -0.87) | |
| 19:6709705 | rs201572752 | T>M | A:590 | (64.58, -64.87, 6.36) |
| 19:6709697 | K>Q | A:593 | (65.47, -66.65, 2.61) | |
| 19:6707931 | rs146613648 | V>M | A:597 | (70.16, -72.82, 1.01) |
| 19:6707913 | rs144432231 | I>F | A:603 | (72.98, -85.83, -1.58) |
| 19:6707910 | G>S | A:604 | (68.99, -85.88, -3.11) | |
| 19:6707903 | T>N | A:606 | (64.07, -89.28, -5.81) | |
| 19:6707888 | rs140655115 | K>R | A:611 | (65.97, -98.36, -11.24) |
| 19:6707880 | rs145886287 | A>S | A:614 | (71.10, -99.41, -6.36) |
| 19:6707864 | D>A | A:619 | (68.01, -91.77, -5.89) | |
| 19:6707862 | A>S | A:620 | (68.82, -90.81, -1.26) | |
| 19:6707852 | T>I | A:623 | (77.11, -95.48, -1.14) | |
| 19:6707840 | rs145461148 | S>T | A:627 | (81.54, -108.84, -0.38) |
| 19:6707831 | Q>P | A:630 | (75.79, -106.82, -4.28) | |
| 19:6707828 | rs139893485 | Q>R | A:631 | (78.50, -101.91, -6.66) |
| 19:6707822 | A>V | A:633 | (75.96, -96.31, -8.75) | |
| 19:6707819 | rs544415595 | Q>L | A:634 | (79.60, -93.83, -11.28) |
| 19:6707813 | A>E | A:636 | (80.20, -87.73, -11.05) | |
| 19:6707545 | L>H | A:638 | (78.71, -82.33, -7.90) | |
| 19:6707536 | rs112187261 | P>R | A:641 | (70.15, -85.02, -12.23) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 19:6718167 | COSM1176505 | R>W | A:126 | (76.52, -58.57, 10.09) |
| 19:6714382 | COSM4553098 | D>N | A:172 | (82.85, -46.50, 2.27) |
| 19:6713210 | COSM1161984 | I>M | A:309 | (48.66, -37.62, -3.76) |
| 19:6711093 | COSM1613048 | R>C | A:440 | (51.95, -85.82, 6.40) |
| 19:6711033 | COSM2727934 | A>T | A:460 | (59.98, -119.63, 1.38) |
| 19:6710828 | COSM569066 | A>V | A:481 | (71.71, -96.06, 12.28) |
| 19:6710748 | COSM1680556 | R>C | A:508 | (65.72, -88.10, 2.21) |
| 19:6710663 | COSM3541018 | S>F | A:536 | (62.14, -74.00, 12.65) |
| 19:6707823 | COSM1397415 | A>T | A:633 | (75.96, -96.31, -8.75) |