3OJY.B | C8B – ASTRID

3OJY.B | C8B

General Structure Information

PDB ID	3ojy
HGNC Gene Label(s)	C8B
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	503
Number Of SNVs	156
Number Of Permutations	73860
Optimal Distance Threshold	21.0
K Statistic	0.226
p-value	0.022

COSMIC

Number Of Residues	503
Number Of SNVs	22
Number Of Permutations	10499
Optimal Distance Threshold	12.0
K Statistic	0.078
p-value	0.774

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	156
Number Of COSMIC SNVs	19
Optimal Distance Threshold	8.0
K Statistic	-0.014
p-value	0.813

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:57425760	COSM4009077	M>T	B:7	(62.04, -22.17, -29.33)
1:57425757	rs151070962	P>L	B:8	(59.52, -21.57, -26.29)
1:57425755	rs370368238 COSM4009076	I>V	B:9	(61.78, -20.41, -22.21)
1:57425730	rs148570619	S>C	B:17	(61.41, -26.11, 1.13)
1:57425728		S>P	B:18	(62.19, -28.03, 4.32)
1:57425716		C>G	B:22	(55.13, -25.48, 14.00)
1:57425711	rs375991328	D>E	B:23	(54.68, -20.51, 14.36)
1:57425710		P>T	B:24	(53.86, -20.93, 17.84)
1:57425700		K>R	B:27	(48.05, -21.83, 14.23)
1:57425698		K>E	B:28	(50.39, -22.17, 10.35)
1:57425693	rs567145070	R>S	B:29	(54.16, -27.37, 8.40)
1:57422576	rs201509703	Y>C	B:32	(60.89, -21.75, -0.13)
1:57422565		L>F	B:36	(65.36, -22.10, -11.34)
1:57422559	COSM681645	P>T	B:38	(62.16, -17.40, -16.58)
1:57422543		G>E	B:43	(55.87, -20.07, -22.62)
1:57422537	COSM3491225	P>L	B:45	(53.11, -20.11, -17.55)
1:57422534		C>Y	B:46	(54.14, -20.08, -13.29)
1:57422515	rs373375237	E>D	B:52	(52.47, -25.11, 0.35)
1:57422511	rs12067507	E>K	B:54	(50.02, -27.45, 6.17)
1:57422507		D>A	B:55	(46.91, -26.15, 9.11)
1:57422484	rs1013579	G>R	B:63	(55.79, -13.01, 23.97)
1:57422480	rs149147808	S>N	B:64	(50.74, -11.96, 23.19)
1:57422481	rs199745832	S>C	B:64	(50.74, -11.96, 23.19)
1:57422478		Q>K	B:65	(50.03, -7.05, 22.48)
1:57422471	COSM3491224	R>P	B:67	(44.85, -6.91, 27.51)
1:57422456		V>A	B:72	(39.13, -3.86, 19.05)
1:57422447		Q>R	B:75	(37.89, -7.42, 9.70)
1:57420485	rs200374059 COSM3386254	R>H	B:82	(38.10, 4.06, 24.02)
1:57420486	rs376708486 COSM4009075	R>C	B:82	(38.10, 4.06, 24.02)
1:57420474		C>R	B:86	(31.04, 8.32, 17.35)
1:57420464	COSM4009073	D>G	B:89	(36.34, 9.84, 11.50)
1:57420461		N>S	B:90	(36.74, 4.94, 9.37)
1:57420448	rs151302643	D>E	B:94	(38.02, 0.74, 6.91)
1:57420426		R>G	B:102	(21.52, 7.86, 19.92)
1:57420401		H>R	B:110	(34.18, 22.59, 8.77)
1:57420402		H>Y	B:110	(34.18, 22.59, 8.77)
1:57420390		Q>E	B:114	(42.46, 13.74, 0.53)
1:57420386		Y>S	B:115	(47.23, 17.19, 1.69)
1:57420382	rs369517511	W>C	B:116	(44.80, 17.84, -4.57)
1:57420381		G>R	B:117	(48.10, 12.12, -4.03)
1:57420377	rs200647490	I>T	B:118	(48.35, 11.66, -0.15)
1:57420369	rs377140731	L>V	B:121	(53.18, 9.61, -0.39)
1:57417851	rs201174086	I>T	B:125	(58.37, 1.75, -2.56)
1:57417842	rs140192392	F>S	B:128	(64.99, -4.08, -5.39)
1:57417830	rs202137767	F>C	B:132	(54.70, 3.07, -6.33)
1:57417824	rs560947620	G>D	B:134	(50.82, -1.33, -1.17)
1:57417813	rs375513059 COSM3491219	D>H	B:138	(46.25, 5.13, 7.19)
1:57417774		I>F	B:151	(46.87, 25.00, -0.50)
1:57417770		L>P	B:152	(46.05, 27.12, -4.20)
1:57417767	rs576004874	N>S	B:153	(41.53, 29.27, -2.59)
1:57417764		T>M	B:154	(41.48, 24.30, -1.15)
1:57417734		S>N	B:164	(55.04, 18.49, 6.43)
1:57417726	COSM535506	P>S	B:167	(53.38, 25.10, -0.03)
1:57415404		I>V	B:176	(68.26, 22.32, -17.71)
1:57415395		E>K	B:179	(75.62, 19.29, -23.69)
1:57415380		S>A	B:184	(77.58, 6.19, -23.95)
1:57415367	rs369993264 COSM1343655	R>H	B:188	(76.09, 10.91, -17.02)
1:57415368	rs150146785	R>C	B:188	(76.09, 10.91, -17.02)
1:57415364		N>S	B:189	(69.74, 11.34, -18.93)
1:57415362		V>I	B:190	(68.92, 6.69, -19.09)
1:57415354	rs144555536	E>D	B:192	(68.20, 7.58, -12.66)
1:57415338	rs201398867	S>T	B:198	(70.24, 1.30, -6.64)
1:57415328		S>T	B:201	(73.64, 1.40, 2.65)
1:57415322		G>D	B:203	(70.11, -2.50, 5.18)
1:57415310	rs12085435	P>L	B:207	(71.33, 8.13, 3.01)
1:57415292		G>V	B:213	(63.24, 6.30, -11.20)
1:57415287	COSM1738445	S>R	B:215	(61.36, 5.08, -14.94)
1:57415277	COSM239092	S>N	B:218	(58.89, 0.33, -14.98)
1:57415273	rs142497373	D>E	B:219	(55.73, 0.11, -17.02)
1:57415271	COSM3491212	R>Q	B:220	(54.76, 2.74, -20.46)
1:57415269		G>S	B:221	(59.92, 3.38, -20.06)
1:57415259	rs367587572	Y>C	B:224	(62.99, 7.25, -22.87)
1:57415255		I>M	B:225	(64.05, 1.95, -23.61)
1:57415250		R>I	B:227	(61.14, 6.77, -29.27)
1:57415241	rs202207968 COSM1687762	R>Q	B:230	(66.46, 3.37, -33.62)
1:57411730	rs372123388	S>N	B:236	(73.99, 9.86, -32.85)
1:57411728	rs548087620	V>I	B:237	(74.37, 13.95, -31.37)
1:57411712		R>H	B:242	(65.26, 17.91, -16.44)
1:57411713	rs147180727	R>C	B:242	(65.26, 17.91, -16.44)
1:57411704	rs374138669	L>F	B:245	(57.40, 22.27, -11.15)
1:57411694	rs149538771	A>V	B:248	(55.41, 20.06, -2.63)
1:57411691	rs545706495	H>R	B:249	(58.73, 20.27, -0.19)
1:57411678		K>N	B:253	(55.04, 12.32, 12.09)
1:57411670		S>N	B:256	(54.18, 7.02, 16.26)
1:57411671	rs371944655	S>C	B:256	(54.18, 7.02, 16.26)
1:57411665	rs201463530	M>V	B:258	(48.69, 4.71, 11.84)
1:57411642	rs146176997	Q>H	B:265	(45.86, -7.73, 8.93)
1:57411638		V>I	B:267	(53.04, -8.11, 9.72)
1:57411631	COSM397117	R>Q	B:269	(49.60, -13.46, 8.01)
1:57411632	rs141295453	R>W	B:269	(49.60, -13.46, 8.01)
1:57411626	COSM1717488	P>T	B:271	(56.49, -16.42, 10.34)
1:57411614	rs373750492	S>G	B:275	(59.85, -18.26, 5.94)
1:57411608		G>R	B:277	(57.71, -16.89, 1.24)
1:57411596		D>N	B:281	(54.17, -12.74, -0.39)
1:57411586		R>H	B:284	(55.84, -10.78, -4.41)
1:57411587	rs141136423	R>C	B:284	(55.84, -10.78, -4.41)
1:57411577		G>A	B:287	(57.59, -3.84, -0.72)
1:57411568	COSM272434	Y>S	B:290	(58.97, 3.81, 4.75)
1:57411556	rs369565521	A>V	B:294	(59.16, 14.32, -0.72)
1:57411553		V>A	B:295	(59.82, 16.61, -4.03)
1:57411551		L>F	B:296	(55.69, 16.49, -4.49)
1:57411544	rs202077631 COSM535509	G>V	B:298	(57.48, 17.96, -12.30)
1:57411542		I>V	B:299	(59.99, 16.63, -14.82)
1:57411524	rs148695486	V>I	B:305	(68.22, 12.43, -31.88)
1:57409477	COSM309779	H>Y	B:322	(72.61, 24.36, -26.14)
1:57409473		A>D	B:323	(71.45, 28.00, -28.19)
1:57409467		A>D	B:325	(66.71, 25.97, -27.53)
1:57409459	rs139498867	D>Y	B:328	(63.05, 27.69, -30.92)
1:57409402		G>S	B:347	(72.53, 33.85, -34.97)
1:57409379		N>K	B:354	(62.86, 25.10, -36.25)
1:57409380		N>S	B:354	(62.86, 25.10, -36.25)
1:57409376		E>D	B:355	(61.56, 24.18, -40.32)
1:57406683		R>G	B:359	(60.16, 19.78, -42.30)
1:57406663		M>I	B:365	(68.99, 16.53, -39.32)
1:57406665		M>L	B:365	(68.99, 16.53, -39.32)
1:57406662		V>L	B:366	(65.86, 15.27, -36.71)
1:57406658		E>V	B:367	(67.60, 10.33, -35.90)
1:57406656		D>N	B:368	(63.27, 11.18, -32.76)
1:57406652	rs370269698	L>S	B:369	(61.52, 14.91, -30.22)
1:57406650		V>M	B:370	(62.22, 11.68, -27.15)
1:57406647	COSM1343653	V>F	B:371	(58.88, 13.51, -24.81)
1:57406637	rs199592536 COSM192655	R>Q	B:374	(58.56, 12.27, -14.71)
1:57406625		S>N	B:378	(46.63, 15.64, -19.12)
1:57406626		S>G	B:378	(46.63, 15.64, -19.12)
1:57406619		H>P	B:380	(49.36, 18.53, -21.39)
1:57406598		Q>R	B:387	(55.77, 12.51, -31.89)
1:57406589	rs371378397	P>L	B:390	(57.97, 20.69, -29.10)
1:57406583	rs548519847 COSM1343651 COSM3419344	A>V	B:392	(55.25, 26.08, -26.01)
1:57406581		D>N	B:393	(53.57, 29.33, -24.27)
1:57406565	rs200077558	W>S	B:398	(53.63, 20.55, -16.90)
1:57406560		D>N	B:400	(47.47, 23.28, -14.14)
1:57406557	rs201806369	A>T	B:401	(48.34, 19.98, -14.04)
1:57406547		Y>C	B:404	(44.85, 20.52, -9.83)
1:57406545		N>H	B:405	(48.55, 14.88, -10.94)
1:57406542		P>A	B:406	(51.24, 15.61, -8.13)
1:57406538		A>G	B:407	(54.79, 13.61, -8.90)
1:57399161		V>M	B:413	(63.90, 5.90, 1.49)
1:57399157		E>G	B:414	(63.60, 4.04, 5.75)
1:57399155	rs142870813	P>S	B:415	(63.77, 0.24, 5.24)
1:57399152		L>V	B:416	(59.09, -2.07, 5.27)
1:57399146	COSM3491203	E>K	B:418	(62.84, 0.88, 10.19)
1:57399123	rs554618167	F>L	B:425	(53.97, -5.50, 15.39)
1:57399115	COSM3865884	S>F	B:428	(59.86, -6.85, 16.53)
1:57399109		T>I	B:430	(62.29, -11.84, 14.93)
1:57399104		R>G	B:432	(63.44, -5.31, 12.70)
1:57399093		M>I	B:435	(61.90, -8.22, 7.01)
1:57399082		L>P	B:439	(65.24, -7.48, 1.55)
1:57399072	COSM3491201	F>L	B:442	(62.72, -9.94, -3.25)
1:57399068	rs200245622	K>E	B:444	(68.90, -12.55, -5.49)
1:57399044		A>T	B:452	(67.01, -14.65, -21.44)
1:57399031		G>E	B:456	(68.73, -6.56, -31.03)
1:57399020		P>S	B:460	(65.46, -7.87, -20.72)
1:57399010		K>R	B:463	(56.32, -9.28, -15.26)
1:57397545	COSM212917	R>H	B:466	(56.64, -13.69, -18.97)
1:57397546		R>C	B:466	(56.64, -13.69, -18.97)
1:57397527		P>L	B:472	(64.50, -1.81, -30.42)
1:57397521		G>V	B:474	(62.97, -1.86, -35.71)
1:57397506	rs141962576	A>G	B:479	(63.40, -11.59, -29.01)
1:57397497	rs143417649	V>D	B:482	(62.47, -9.23, -36.82)
1:57397498	rs377623911	V>I	B:482	(62.47, -9.23, -36.82)
1:57397488	rs530148306 COSM1165673	R>Q	B:485	(71.31, -2.93, -38.78)
1:57397489		R>W	B:485	(71.31, -2.93, -38.78)
1:57395228	rs61737417	T>I	B:488	(73.04, -4.90, -34.69)
1:57395195	COSM1667576	N>S	B:499	(75.74, -18.06, -4.56)
1:57395196		N>D	B:499	(75.74, -18.06, -4.56)
1:57395172	rs567887687 COSM911102	R>C	B:507	(85.66, -14.12, -2.41)
1:57395150	rs369113342	C>Y	B:514	(73.28, -12.65, -20.64)
1:57395146	rs374999478	N>K	B:515	(73.80, -10.74, -24.58)
1:57395141		P>L	B:517	(79.32, -8.85, -27.12)
1:57395130	rs190080984	N>D	B:521	(81.57, -3.37, -26.11)
1:57395103		A>S	B:530	(82.75, -9.38, -12.25)

3OJY.B | C8B.

3OJY.B | C8B

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
1:57425735	COSM265779	S>R	B:15	(62.15, -27.97, -5.12)
1:57422559	COSM681645	P>S	B:38	(62.16, -17.40, -16.58)
1:57422541	COSM3491227	E>K	B:44	(53.98, -23.51, -19.42)
1:57422471	COSM3491224	R>Q	B:67	(44.85, -6.91, 27.51)
1:57420479	COSM4009074	L>R	B:84	(38.36, 7.89, 17.87)
1:57420467	COSM1687765	G>E	B:88	(32.96, 10.52, 11.54)
1:57417813	COSM3491219	D>N	B:138	(46.25, 5.13, 7.19)
1:57417794	COSM1687764	G>D	B:144	(41.04, 13.38, 16.03)
1:57415368	COSM69967	R>G	B:188	(76.09, 10.91, -17.02)
1:57415241	COSM1687762	R>Q	B:230	(66.46, 3.37, -33.62)
1:57411647	COSM3491209	L>F	B:264	(48.73, -4.35, 10.99)
1:57411626	COSM1717488	P>T	B:271	(56.49, -16.42, 10.34)
1:57411568	COSM272434	Y>C	B:290	(58.97, 3.81, 4.75)
1:57406671	COSM1687759	D>N	B:363	(62.73, 16.33, -44.79)
1:57406583	COSM1343651	A>E	B:392	(55.25, 26.08, -26.01)
1:57399065	COSM136137	E>K	B:445	(63.79, -14.21, -6.73)
1:57399055	COSM175116	S>F	B:448	(66.25, -8.88, -15.26)
1:57399040	COSM3491200	P>L	B:453	(68.97, -13.66, -24.10)
1:57399026	COSM3865883	G>R	B:458	(67.19, -5.74, -26.08)
1:57395225	COSM39913	P>L	B:489	(75.83, -3.58, -32.75)
1:57395195	COSM1667576	N>S	B:499	(75.74, -18.06, -4.56)
1:57395177	COSM2149032	G>E	B:505	(85.77, -15.10, 2.42)
1:57395172	COSM911102	R>C	B:507	(85.66, -14.12, -2.41)
1:57395135	COSM1667575	P>L	B:519	(79.19, -7.14, -33.03)