General Structure Information
| PDB ID | 3ojy |
| HGNC Gene Label(s) | C8A |
| Structure Name | crystal structure of human complement component c8 |
| Resolution | 2.51Å |
| Reference | AUTH L.L.LOVELACE,C.L.COOPER,J.M.SODETZ,L.LEBIODATITL STRUCTURE OF HUMAN C8 PROTEIN PROVIDES MECHANISTIC INSIGHTTITL 2 INTO MEMBRANE PORE FORMATION BY COMPLEMENT.REF J.BIOL.CHEM. V. 286 17585 2011REFN ISSN 0021-9258PMID 21454577DOI 10.1074/JBC.M111.219766 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 478 |
| Number Of SNVs | 144 |
| Number Of Permutations | 26912 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.012 |
| p-value | 0.542 |
COSMIC
| Number Of Residues | 478 |
| Number Of SNVs | 27 |
| Number Of Permutations | 12489 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.028 |
| p-value | 0.793 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 144 |
| Number Of COSMIC SNVs | 27 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.016 |
| p-value | 0.848 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:57333304 | rs143523574 | P>S | A:4 | (45.17, -39.58, -41.06) |
| 1:57333307 | rs201034819 COSM681662 |
A>T | A:5 | (42.84, -42.75, -39.75) |
| 1:57333320 | C>Y | A:9 | (33.53, -40.49, -30.45) | |
| 1:57333328 | S>G | A:12 | (31.95, -43.03, -20.77) | |
| 1:57333369 | rs370982052 | D>E | A:25 | (15.01, -31.33, -5.61) |
| 1:57333371 | K>R | A:26 | (18.57, -31.51, -9.35) | |
| 1:57340626 | rs369702409 COSM69966 |
R>Q | A:29 | (24.03, -39.30, -15.34) |
| 1:57340631 | rs148302150 | R>W | A:31 | (28.83, -39.36, -20.81) |
| 1:57340632 | rs199851888 | R>Q | A:31 | (28.83, -39.36, -20.81) |
| 1:57340643 | rs147022920 | Q>K | A:35 | (38.73, -40.35, -28.67) |
| 1:57340652 | rs183038925 | K>E | A:38 | (40.96, -37.23, -34.71) |
| 1:57340653 | rs371895687 | K>R | A:38 | (40.96, -37.23, -34.71) |
| 1:57340655 | F>V | A:39 | (41.02, -36.86, -38.70) | |
| 1:57340662 | rs267598667 COSM3865876 |
G>V | A:41 | (34.48, -38.84, -37.52) |
| 1:57340692 | Q>L | A:51 | (20.16, -32.45, -15.06) | |
| 1:57340695 | COSM4009064 | A>D | A:52 | (17.38, -34.82, -12.74) |
| 1:57340706 | rs138096497 | S>G | A:56 | (14.01, -37.82, -2.23) |
| 1:57340727 | rs652785 | Q>K | A:63 | (24.08, -23.11, 4.14) |
| 1:57340731 | COSM3805638 | A>V | A:64 | (23.97, -22.54, 8.41) |
| 1:57340734 | Q>R | A:65 | (28.63, -21.14, 8.46) | |
| 1:57340740 | rs200250618 | G>A | A:67 | (27.52, -17.85, 14.27) |
| 1:57341737 | rs139141074 | R>C | A:77 | (27.98, -12.98, 1.85) |
| 1:57341738 | R>H | A:77 | (27.98, -12.98, 1.85) | |
| 1:57341749 | COSM1199029 | R>C | A:81 | (25.69, -9.27, 13.71) |
| 1:57341750 | R>H | A:81 | (25.69, -9.27, 13.71) | |
| 1:57341765 | rs562746756 | N>I | A:86 | (25.83, 0.28, 6.65) |
| 1:57341771 | D>G | A:88 | (26.11, -0.79, 1.84) | |
| 1:57341776 | COSM1602578 | D>N | A:90 | (27.00, -5.85, 2.43) |
| 1:57341779 | C>G | A:91 | (23.76, -8.85, 1.10) | |
| 1:57341803 | rs150404785 | D>N | A:99 | (13.05, -4.12, 9.48) |
| 1:57341822 | A>V | A:105 | (24.28, 6.76, 8.34) | |
| 1:57341830 | rs11804257 | E>K | A:108 | (32.75, 7.37, 5.04) |
| 1:57341837 | rs145228353 | C>Y | A:110 | (32.70, 7.28, -0.41) |
| 1:57341848 | COSM3491177 | E>K | A:114 | (31.71, 4.96, -9.62) |
| 1:57341852 | P>Q | A:115 | (33.85, 1.60, -8.96) | |
| 1:57341860 | G>R | A:118 | (37.59, -3.19, -13.82) | |
| 1:57341863 | S>P | A:119 | (36.23, -4.29, -10.89) | |
| 1:57341876 | A>V | A:123 | (36.54, -10.88, -10.54) | |
| 1:57341879 | L>W | A:124 | (35.80, -12.49, -13.99) | |
| 1:57347124 | rs201698749 | N>K | A:127 | (39.22, -21.47, -19.10) |
| 1:57347147 | Q>R | A:135 | (30.48, -17.05, -13.61) | |
| 1:57347152 | rs374176234 | V>M | A:137 | (35.69, -15.64, -7.99) |
| 1:57347155 | rs376646572 | Y>H | A:138 | (37.92, -12.21, -6.47) |
| 1:57347162 | A>V | A:140 | (33.49, -6.54, -7.17) | |
| 1:57347164 | S>C | A:141 | (30.86, -4.98, -5.11) | |
| 1:57347174 | G>V | A:144 | (33.09, -3.85, 4.21) | |
| 1:57347189 | rs140970213 | T>M | A:149 | (39.92, 6.12, -2.26) |
| 1:57347191 | V>I | A:150 | (41.94, 5.71, -6.15) | |
| 1:57347192 | rs147876509 | V>A | A:150 | (41.94, 5.71, -6.15) |
| 1:57347219 | rs147003861 | R>Q | A:159 | (34.08, 17.52, -17.73) |
| 1:57347221 | Y>H | A:160 | (28.29, 20.22, -22.27) | |
| 1:57347227 | S>P | A:162 | (24.68, 16.96, -24.25) | |
| 1:57347239 | rs142286739 | R>S | A:166 | (26.83, 18.09, -15.48) |
| 1:57347240 | R>H | A:166 | (26.83, 18.09, -15.48) | |
| 1:57347245 | rs540173367 | Y>H | A:168 | (30.74, 18.73, -14.90) |
| 1:57347260 | E>K | A:173 | (35.14, 11.41, -12.36) | |
| 1:57347262 | COSM170681 | E>D | A:173 | (35.14, 11.41, -12.36) |
| 1:57347272 | rs142382705 | R>W | A:177 | (34.14, 2.84, -2.99) |
| 1:57347279 | rs370303503 COSM1687752 |
P>L | A:179 | (36.88, -2.76, -3.82) |
| 1:57347294 | rs374344050 | K>R | A:184 | (47.66, -2.43, -5.82) |
| 1:57347303 | F>S | A:187 | (44.88, 5.24, -12.26) | |
| 1:57349161 | rs139740733 | A>V | A:191 | (52.44, 7.49, -22.46) |
| 1:57349167 | T>I | A:193 | (51.98, 4.49, -26.41) | |
| 1:57349181 | rs142336851 | E>K | A:198 | (54.26, -4.38, -40.60) |
| 1:57349191 | D>G | A:201 | (52.71, -10.30, -49.20) | |
| 1:57349194 | N>S | A:202 | (49.92, -13.17, -47.80) | |
| 1:57349208 | L>V | A:207 | (48.03, -15.93, -39.25) | |
| 1:57349331 | COSM911095 | E>K | A:248 | (35.22, -12.61, -40.54) |
| 1:57349346 | N>Y | A:253 | (42.75, -15.55, -49.44) | |
| 1:57349347 | N>S | A:253 | (42.75, -15.55, -49.44) | |
| 1:57349352 | K>E | A:255 | (48.08, -13.23, -55.42) | |
| 1:57351636 | T>S | A:268 | (45.29, 2.46, -17.51) | |
| 1:57351656 | R>S | A:274 | (42.39, -9.26, 0.17) | |
| 1:57351664 | D>G | A:277 | (40.06, -12.76, 4.68) | |
| 1:57351667 | I>T | A:278 | (39.04, -13.73, -0.42) | |
| 1:57351669 | M>V | A:279 | (34.15, -12.00, 0.21) | |
| 1:57351676 | COSM911096 | D>G | A:281 | (30.29, -13.93, -6.02) |
| 1:57351682 | G>E | A:283 | (27.36, -17.55, -6.32) | |
| 1:57351694 | rs563439122 COSM3491187 |
S>L | A:287 | (28.24, -23.46, -6.21) |
| 1:57351704 | rs147513844 | E>D | A:290 | (25.40, -26.51, -4.28) |
| 1:57351711 | COSM3491188 | D>N | A:293 | (32.23, -33.63, 0.88) |
| 1:57351714 | Q>K | A:294 | (31.61, -38.56, -2.09) | |
| 1:57351720 | N>D | A:296 | (31.44, -36.15, -8.37) | |
| 1:57351724 | rs542666529 | Y>F | A:297 | (35.24, -35.09, -13.21) |
| 1:57351736 | A>V | A:301 | (33.68, -29.88, -13.80) | |
| 1:57351754 | Y>C | A:307 | (32.38, -20.37, -11.05) | |
| 1:57351775 | S>C | A:314 | (47.28, -9.67, -10.49) | |
| 1:57351783 | rs374830601 | M>V | A:317 | (43.54, -2.70, -16.10) |
| 1:57351799 | E>G | A:322 | (44.37, -4.24, -33.63) | |
| 1:57351811 | V>E | A:326 | (41.98, -5.14, -46.58) | |
| 1:57351817 | rs145449959 | D>G | A:328 | (43.02, -3.66, -54.66) |
| 1:57351835 | rs370785343 | S>Y | A:334 | (46.28, 2.47, -60.28) |
| 1:57372358 | I>T | A:342 | (46.80, 3.60, -47.71) | |
| 1:57372366 | C>R | A:345 | (46.02, 8.60, -44.96) | |
| 1:57372376 | G>D | A:348 | (44.76, 11.00, -39.78) | |
| 1:57372387 | I>L | A:352 | (48.01, 8.15, -35.67) | |
| 1:57372391 | Q>P | A:353 | (52.75, 10.30, -35.84) | |
| 1:57372435 | H>Y | A:368 | (44.35, 11.84, -52.76) | |
| 1:57372436 | H>R | A:368 | (44.35, 11.84, -52.76) | |
| 1:57372438 | C>R | A:369 | (42.01, 11.93, -50.17) | |
| 1:57372441 | K>Q | A:370 | (39.60, 13.91, -54.48) | |
| 1:57372444 | K>Q | A:371 | (35.51, 10.05, -51.13) | |
| 1:57372453 | rs553315803 | G>C | A:374 | (37.75, 9.29, -43.04) |
| 1:57372454 | G>D | A:374 | (37.75, 9.29, -43.04) | |
| 1:57372463 | rs706479 | T>I | A:377 | (31.90, 5.14, -46.68) |
| 1:57373634 | A>T | A:380 | (35.52, 5.96, -49.54) | |
| 1:57373644 | rs141504393 | A>V | A:383 | (38.52, 4.86, -53.47) |
| 1:57373647 | M>T | A:384 | (42.34, 5.21, -50.74) | |
| 1:57373648 | M>I | A:384 | (42.34, 5.21, -50.74) | |
| 1:57373652 | V>L | A:386 | (40.30, 0.29, -48.67) | |
| 1:57373670 | rs146489003 | R>W | A:392 | (40.72, -7.22, -33.35) |
| 1:57373671 | rs375206250 COSM3934792 |
R>Q | A:392 | (40.72, -7.22, -33.35) |
| 1:57373677 | rs149254627 | R>Q | A:394 | (39.79, -6.23, -27.17) |
| 1:57373724 | T>P | A:410 | (35.96, 3.68, -36.74) | |
| 1:57373727 | rs111937292 | I>V | A:411 | (37.42, 4.98, -32.46) |
| 1:57373736 | COSM1246963 | R>C | A:414 | (42.22, 13.34, -29.20) |
| 1:57373737 | rs143908758 | R>H | A:414 | (42.22, 13.34, -29.20) |
| 1:57373742 | rs147281350 | W>R | A:416 | (41.23, 3.47, -27.16) |
| 1:57373749 | R>K | A:418 | (40.09, 12.12, -23.74) | |
| 1:57373765 | N>K | A:423 | (35.59, 0.64, -19.90) | |
| 1:57373766 | P>S | A:424 | (39.25, -1.14, -18.69) | |
| 1:57373773 | V>A | A:426 | (42.50, -7.70, -18.04) | |
| 1:57373778 | rs17114555 | D>N | A:428 | (48.93, -8.60, -17.92) |
| 1:57373784 | E>K | A:430 | (49.84, -12.39, -12.16) | |
| 1:57378076 | rs374808537 | M>L | A:431 | (46.80, -17.09, -13.34) |
| 1:57378078 | M>I | A:431 | (46.80, -17.09, -13.34) | |
| 1:57378086 | I>N | A:434 | (39.91, -22.33, -8.86) | |
| 1:57378100 | rs199713008 | R>W | A:439 | (44.35, -22.30, 2.79) |
| 1:57378101 | R>Q | A:439 | (44.35, -22.30, 2.79) | |
| 1:57378110 | S>N | A:442 | (36.25, -16.28, 5.15) | |
| 1:57378118 | P>S | A:445 | (38.61, -24.46, 6.59) | |
| 1:57378119 | rs143256214 | P>R | A:445 | (38.61, -24.46, 6.59) |
| 1:57378142 | L>V | A:453 | (38.77, -28.40, -7.16) | |
| 1:57378145 | rs201007993 COSM1199027 COSM1343647 |
R>C | A:454 | (44.57, -30.91, -6.28) |
| 1:57378146 | rs200098041 COSM39110 |
R>H | A:454 | (44.57, -30.91, -6.28) |
| 1:57378148 | rs370599466 COSM393977 |
R>C | A:455 | (41.10, -35.15, -7.09) |
| 1:57378172 | rs573218962 COSM3735360 |
E>Q | A:463 | (38.89, -34.89, -20.56) |
| 1:57378178 | N>D | A:465 | (44.50, -30.60, -24.24) | |
| 1:57378182 | rs538817799 | A>V | A:466 | (44.28, -30.08, -28.15) |
| 1:57378188 | rs559111946 COSM230449 |
R>Q | A:468 | (42.56, -35.80, -26.48) |
| 1:57378193 | rs202042786 | G>R | A:470 | (46.60, -35.55, -33.18) |
| 1:57378194 | G>E | A:470 | (46.60, -35.55, -33.18) | |
| 1:57378212 | G>E | A:476 | (49.08, -26.86, -37.59) | |
| 1:57378218 | rs139907890 | P>L | A:478 | (45.49, -28.27, -33.04) |
| 1:57378223 | rs200018561 | L>F | A:480 | (38.88, -29.53, -28.74) |
| 1:57378226 | COSM1687757 | E>K | A:481 | (34.53, -27.48, -31.02) |
| 1:57378241 | rs371318053 COSM243408 |
R>W | A:486 | (38.12, -28.27, -35.87) |
| 1:57378242 | R>T | A:486 | (38.12, -28.27, -35.87) | |
| 1:57378250 | C>S | A:489 | (45.51, -25.54, -41.47) | |
| 1:57378251 | C>Y | A:489 | (45.51, -25.54, -41.47) | |
| 1:57378253 | rs202001060 | R>C | A:490 | (47.43, -22.23, -43.00) |
| 1:57378263 | S>I | A:493 | (47.56, -27.83, -47.28) | |
| 1:57383243 | K>Q | A:507 | (58.20, -24.89, -43.41) | |
| 1:57383250 | D>V | A:509 | (55.64, -29.70, -38.01) | |
| 1:57383261 | S>G | A:513 | (52.55, -35.97, -27.65) | |
| 1:57383265 | C>Y | A:514 | (49.73, -36.14, -25.33) | |
| 1:57383278 | W>C | A:518 | (51.76, -39.62, -13.91) | |
| 1:57383288 | rs56334452 | R>G | A:522 | (61.35, -47.49, -10.38) |
| 1:57383295 | rs148949314 | G>D | A:524 | (57.23, -43.05, -5.14) |
| 1:57383315 | rs1342440 | E>Q | A:531 | (58.14, -38.31, -28.59) |
| 1:57383316 | E>G | A:531 | (58.14, -38.31, -28.59) | |
| 1:57383352 | COSM2237064 | S>L | A:543 | (61.94, -29.37, -32.97) |
| 1:57383357 | rs41285938 | P>S | A:545 | (59.56, -27.22, -27.31) |
| 1:57383358 | rs17300936 | P>L | A:545 | (59.56, -27.22, -27.31) |
| 1:57383361 | G>E | A:546 | (61.16, -28.87, -23.77) | |
| 1:57383363 | rs530776774 | R>W | A:547 | (60.10, -30.37, -19.38) |
| 1:57383364 | COSM2149437 | R>Q | A:547 | (60.10, -30.37, -19.38) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:57333307 | COSM681662 | A>T | A:5 | (42.84, -42.75, -39.75) |
| 1:57340626 | COSM69966 | R>Q | A:29 | (24.03, -39.30, -15.34) |
| 1:57340760 | COSM3491175 | E>K | A:74 | (19.01, -18.40, 1.30) |
| 1:57341776 | COSM1602578 | D>Y | A:90 | (27.00, -5.85, 2.43) |
| 1:57347137 | COSM3491178 | E>K | A:132 | (36.36, -17.84, -22.67) |
| 1:57347158 | COSM911094 | D>N | A:139 | (32.18, -9.41, -4.62) |
| 1:57349331 | COSM911095 | E>K | A:248 | (35.22, -12.61, -40.54) |
| 1:57351711 | COSM3491188 | D>N | A:293 | (32.23, -33.63, 0.88) |
| 1:57351813 | COSM2237028 | I>F | A:327 | (44.61, -3.21, -49.64) |
| 1:57372354 | COSM279464 | D>Y | A:341 | (51.04, 6.03, -49.13) |
| 1:57372379 | COSM159665 | S>F | A:349 | (41.69, 9.36, -39.92) |
| 1:57373631 | COSM3705946 | R>G | A:379 | (30.24, 5.08, -52.07) |
| 1:57373655 | COSM3491192 | E>K | A:387 | (37.90, -4.07, -50.31) |
| 1:57373736 | COSM1246963 | R>C | A:414 | (42.22, 13.34, -29.20) |
| 1:57373778 | COSM1343646 | D>N | A:428 | (48.93, -8.60, -17.92) |
| 1:57378088 | COSM3491193 | H>Y | A:435 | (42.94, -25.42, -6.32) |
| 1:57378145 | COSM1199027 | R>C | A:454 | (44.57, -30.91, -6.28) |
| 1:57378146 | COSM39110 | R>H | A:454 | (44.57, -30.91, -6.28) |
| 1:57378148 | COSM393977 | R>C | A:455 | (41.10, -35.15, -7.09) |
| 1:57378149 | COSM2237052 | R>H | A:455 | (41.10, -35.15, -7.09) |
| 1:57378172 | COSM3735360 | E>K | A:463 | (38.89, -34.89, -20.56) |
| 1:57378188 | COSM230449 | R>Q | A:468 | (42.56, -35.80, -26.48) |
| 1:57378226 | COSM1687757 | E>K | A:481 | (34.53, -27.48, -31.02) |
| 1:57383288 | COSM216350 | R>G | A:522 | (61.35, -47.49, -10.38) |
| 1:57383315 | COSM3997613 | E>Q | A:531 | (58.14, -38.31, -28.59) |
| 1:57383352 | COSM2237064 | S>L | A:543 | (61.94, -29.37, -32.97) |
| 1:57383358 | COSM3751318 | P>L | A:545 | (59.56, -27.22, -27.31) |
| 1:57383364 | COSM2149437 | R>Q | A:547 | (60.10, -30.37, -19.38) |
| 1:57383376 | COSM271994 | T>M | A:551 | (58.70, -36.35, -12.06) |