2XWB.H | CFB – ASTRID

2XWB.H | CFB

General Structure Information

PDB ID	2xwb
HGNC Gene Label(s)	CFB
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	709
Number Of SNVs	153
Number Of Permutations	42761
Optimal Distance Threshold	15.0
K Statistic	0.066
p-value	0.433

COSMIC

Number Of Residues	709
Number Of SNVs	8
Number Of Permutations	2674
Optimal Distance Threshold	13.0
K Statistic	0.25
p-value	0.015

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	153
Number Of COSMIC SNVs	8
Optimal Distance Threshold	13.0
K Statistic	0.204
p-value	0.008

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:31914206	COSM227753	G>W	H:16	(158.55, -0.16, 63.41)
6:31914207		G>E	H:16	(158.55, -0.16, 63.41)
6:31914234		R>Q	H:25	(144.96, -5.35, 56.13)
6:31914272	rs560218488	P>S	H:38	(153.44, -14.59, 52.05)
6:31914288		P>L	H:43	(151.98, -13.72, 61.01)
6:31914305		R>C	H:49	(150.59, -4.78, 66.58)
6:31914306	rs117314762	R>H	H:49	(150.59, -4.78, 66.58)
6:31914321		T>M	H:54	(150.53, 5.15, 74.76)
6:31914356		K>E	H:66	(158.50, -14.63, 75.51)
6:31914359	rs369638886	T>S	H:67	(159.05, -9.78, 74.42)
6:31914372		A>V	H:71	(158.36, -8.95, 63.04)
6:31914804		H>Y	H:82	(157.20, -34.32, 71.95)
6:31914834		R>G	H:92	(163.03, -39.26, 63.44)
6:31914847		Y>C	H:96	(157.90, -32.25, 60.09)
6:31914867		S>T	H:103	(154.51, -42.68, 58.28)
6:31914885		G>S	H:109	(151.57, -57.21, 68.89)
6:31914903		S>T	H:115	(146.05, -42.35, 60.35)
6:31914934		R>Q	H:125	(145.29, -28.33, 62.09)
6:31914938		W>C	H:126	(150.63, -33.34, 60.69)
6:31914952		A>V	H:131	(148.37, -42.61, 65.70)
6:31914964		N>S	H:135	(148.01, -54.10, 73.70)
6:31914966		G>R	H:136	(144.52, -54.74, 74.29)
6:31915143		P>L	H:143	(144.67, -43.07, 75.11)
6:31915179		Q>R	H:155	(149.14, -48.08, 84.52)
6:31915197		S>N	H:161	(145.12, -41.68, 84.94)
6:31915199		V>I	H:162	(146.46, -39.97, 81.49)
6:31915217		R>W	H:168	(158.75, -25.00, 75.81)
6:31915242		Q>P	H:176	(145.79, -32.21, 81.72)
6:31915245		R>Q	H:177	(143.92, -36.09, 84.75)
6:31915248		R>Q	H:178	(141.52, -38.57, 78.99)
6:31915251	rs558967629 COSM3861890	T>M	H:179	(140.21, -40.93, 84.16)
6:31915262		G>S	H:183	(133.04, -48.96, 80.62)
6:31915275		S>N	H:187	(137.69, -38.85, 80.77)
6:31915280		T>S	H:189	(138.51, -34.69, 75.20)
6:31915527	rs377549343	M>V	H:198	(146.30, -23.88, 63.86)
6:31915528		M>T	H:198	(146.30, -23.88, 63.86)
6:31915533		D>N	H:200	(138.91, -23.77, 63.14)
6:31915537		T>I	H:201	(137.20, -24.48, 58.80)
6:31915554	rs141965248	E>K	H:207	(129.80, -30.66, 60.57)
6:31915558		A>G	H:208	(131.10, -30.34, 65.34)
6:31915566		S>A	H:211	(127.68, -33.46, 66.03)
6:31915585		I>T	H:217	(118.35, -32.39, 70.84)
6:31915588		E>V	H:218	(118.48, -37.14, 69.11)
6:31915600		A>V	H:222	(111.56, -37.86, 76.11)
6:31915605		D>H	H:224	(108.00, -35.72, 71.08)
6:31915779		L>P	H:248	(122.70, -17.07, 73.66)
6:31915784		L>V	H:250	(127.27, -11.82, 72.75)
6:31915785		L>P	H:250	(127.27, -11.82, 72.75)
6:31915788		D>V	H:251	(131.65, -10.17, 74.23)
6:31915798	rs147564718	D>E	H:254	(136.04, -3.49, 72.54)
6:31915803		I>T	H:256	(135.32, -8.06, 69.78)
6:31915812		S>N	H:259	(133.27, -7.00, 62.49)
6:31915824		G>V	H:263	(128.75, -12.01, 62.99)
6:31915827	rs140338493	A>V	H:264	(128.05, -13.37, 65.94)
6:31915834	rs373768934	K>N	H:266	(124.55, -12.21, 61.06)
6:31915845		N>S	H:270	(121.19, -18.78, 60.85)
6:31916154	COSM3861893	A>T	H:276	(113.78, -25.02, 64.36)
6:31916166		V>M	H:280	(112.68, -28.34, 68.88)
6:31916187		V>L	H:287	(123.17, -12.17, 77.68)
6:31916210	rs534739758 COSM3830144	K>N	H:294	(121.73, -6.18, 78.82)
6:31916231	rs140166479	E>D	H:301	(110.87, -14.42, 79.58)
6:31916242		S>T	H:305	(109.84, -20.75, 73.63)
6:31916244		N>D	H:306	(109.09, -17.40, 70.47)
6:31916268		L>F	H:314	(119.84, -11.55, 68.08)
6:31916613	rs148898364	K>M	H:323	(130.66, 2.97, 72.90)
6:31916640	rs146477718	K>T	H:332	(129.35, -9.61, 86.57)
6:31916645		L>F	H:334	(128.75, -16.86, 83.47)
6:31916672		W>R	H:343	(113.17, -20.08, 89.99)
6:31916675	rs141298291	P>A	H:344	(112.75, -21.20, 94.77)
6:31916676	rs200890358	P>L	H:344	(112.75, -21.20, 94.77)
6:31916711		R>C	H:356	(118.54, -32.23, 79.26)
6:31916736		D>G	H:364	(138.39, -12.56, 73.39)
6:31917033		M>I	H:369	(136.63, -6.70, 84.83)
6:31917037	rs141984066	G>R	H:371	(138.34, -12.80, 86.98)
6:31917050		T>S	H:375	(134.48, -19.65, 89.71)
6:31917053		V>A	H:376	(130.70, -19.31, 87.74)
6:31917056		I>T	H:377	(131.29, -22.96, 85.33)
6:31917067		R>W	H:381	(129.40, -28.78, 87.44)
6:31917094	rs535712398	R>C	H:390	(130.67, -42.37, 93.90)
6:31917095	rs150398964	R>H	H:390	(130.67, -42.37, 93.90)
6:31917101		N>S	H:392	(124.34, -39.63, 88.86)
6:31917104		P>R	H:393	(127.49, -38.27, 86.83)
6:31917214		V>I	H:405	(135.30, -13.85, 68.17)
6:31917235	rs558604744	V>M	H:412	(144.18, -21.02, 77.52)
6:31917242		I>T	H:414	(138.36, -20.41, 75.14)
6:31917250		L>V	H:417	(135.04, -21.95, 80.26)
6:31917257		S>C	H:419	(132.95, -28.79, 77.90)
6:31917263		K>R	H:421	(131.58, -34.19, 76.78)
6:31917267		D>E	H:422	(134.56, -38.86, 74.52)
6:31917298		M>V	H:433	(132.96, -15.58, 61.44)
6:31917300	rs200837114 CM103425	M>I	H:433	(132.96, -15.58, 61.44)
6:31917316		V>I	H:439	(127.48, -23.03, 56.81)
6:31917327		Q>H	H:442	(123.66, -24.79, 52.71)
6:31917334		D>N	H:445	(117.60, -30.80, 55.52)
6:31917832		S>R	H:447	(114.75, -34.22, 55.07)
6:31917833		S>N	H:447	(114.75, -34.22, 55.07)
6:31917838		S>P	H:449	(115.22, -37.54, 60.72)
6:31917846		S>R	H:451	(117.14, -40.20, 66.17)
6:31917881		T>I	H:463	(110.04, -52.44, 84.45)
6:31917898		P>T	H:469	(112.76, -50.64, 74.90)
6:31917923		I>T	H:477	(102.62, -73.02, 67.95)
6:31918063		R>C	H:478	(106.88, -76.08, 66.43)
6:31918066		P>S	H:479	(102.77, -79.71, 65.90)
6:31918069		S>P	H:480	(103.05, -81.86, 70.00)
6:31918081	rs144339757	E>K	H:484	(111.16, -72.12, 69.83)
6:31918092	rs368280020	M>I	H:487	(114.39, -63.10, 72.68)
6:31918097		A>V	H:489	(114.99, -56.50, 68.11)
6:31918105		S>T	H:492	(111.83, -50.77, 62.72)
6:31918151	rs372020657 COSM248876	D>G	H:507	(107.25, -72.74, 60.84)
6:31918154	rs149101394	K>R	H:508	(103.58, -71.01, 57.83)
6:31918156		E>K	H:509	(103.25, -66.77, 58.68)
6:31918159	rs202094896	H>Y	H:510	(99.52, -69.85, 61.37)
6:31918408		R>Q	H:521	(98.63, -56.95, 71.44)
6:31918410	COSM3624884	D>N	H:522	(100.32, -61.80, 70.54)
6:31918418		E>D	H:524	(98.93, -60.53, 63.15)
6:31918422		E>K	H:526	(103.85, -59.46, 56.24)
6:31918446		Y>D	H:534	(120.05, -70.34, 57.74)
6:31918458		G>R	H:538	(125.54, -77.74, 55.10)
6:31918464	rs74969409	K>E	H:540	(124.34, -83.43, 56.95)
6:31918468	rs143259927	E>A	H:541	(129.25, -84.32, 53.33)
6:31918500	rs199518433	V>I	H:552	(120.28, -63.63, 60.57)
6:31918546		I>T	H:567	(107.76, -49.68, 72.08)
6:31918667		E>K	H:576	(122.94, -41.34, 58.78)
6:31918669	rs377025675	E>D	H:576	(122.94, -41.34, 58.78)
6:31918671		G>V	H:577	(122.29, -42.44, 63.65)
6:31918700		T>A	H:587	(132.50, -37.73, 56.98)
6:31918704	rs201754399	T>I	H:588	(132.01, -41.57, 59.38)
6:31918709		C>R	H:590	(131.50, -48.39, 57.78)
6:31918714	rs369531605	Q>H	H:591	(136.00, -49.83, 58.49)
6:31918926	rs573842877	E>K	H:596	(134.46, -46.91, 68.06)
6:31918947		I>L	H:603	(134.72, -55.43, 73.22)
6:31918961		F>L	H:607	(123.12, -60.81, 77.40)
6:31918972		E>G	H:611	(115.76, -64.17, 85.64)
6:31918986		T>S	H:616	(118.14, -59.00, 83.62)
6:31918996		E>V	H:619	(127.82, -56.74, 82.44)
6:31919002		Y>S	H:621	(134.11, -58.31, 79.08)
6:31919005		I>T	H:622	(133.29, -59.06, 72.78)
6:31919018	rs4151660	D>E	H:626	(144.65, -61.96, 72.52)
6:31919145		Y>H	H:637	(135.23, -78.70, 74.60)
6:31919155		G>A	H:640	(129.05, -82.62, 67.63)
6:31919166	rs200095748 COSM741823	V>L	H:644	(135.39, -80.91, 63.91)
6:31919173		D>G	H:646	(139.24, -76.97, 60.94)
6:31919176		I>T	H:647	(137.27, -75.35, 64.87)
6:31919184		V>M	H:650	(132.27, -74.42, 62.78)
6:31919194		P>R	H:653	(134.17, -64.86, 59.83)
6:31919197	rs527879781	R>Q	H:654	(130.49, -64.99, 59.00)
6:31919223		P>S	H:663	(138.87, -61.08, 81.43)
6:31919343		G>S	H:676	(119.30, -61.63, 70.93)
6:31919371		R>H	H:685	(122.74, -43.63, 72.31)
6:31919656		G>A	H:690	(124.41, -58.77, 67.54)
6:31919658		V>I	H:691	(122.35, -62.05, 66.93)
6:31919665		S>T	H:693	(123.40, -67.97, 67.87)
6:31919676		V>M	H:697	(127.59, -75.24, 77.68)
6:31919682		V>I	H:699	(123.91, -73.28, 81.66)
6:31919689		K>R	H:701	(118.01, -77.16, 82.08)
6:31919698	rs11541541	K>R	H:704	(118.23, -72.52, 89.14)
6:31919700	rs112646781	R>W	H:705	(120.25, -70.12, 85.80)
6:31919724		A>T	H:713	(131.42, -71.84, 78.34)
6:31919739		I>L	H:718	(125.87, -63.03, 64.05)
6:31919743		N>S	H:719	(129.31, -59.24, 63.14)
6:31919760		P>T	H:725	(124.69, -56.39, 52.73)
6:31919784		D>N	H:733	(111.92, -48.45, 52.45)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:31915244	COSM3410958	R>W	H:177	(143.92, -36.09, 84.75)
6:31915839	COSM1621456	L>P	H:268	(123.54, -16.89, 67.11)
6:31916703	COSM4599918	N>T	H:353	(115.65, -33.47, 88.10)
6:31916708	COSM4590071	T>P	H:355	(116.50, -29.60, 82.31)
6:31916712	COSM3715385	R>H	H:356	(118.54, -32.23, 79.26)
6:31916720	COSM3662398	I>V	H:359	(126.15, -22.28, 78.15)
6:31917046	COSM3662399	I>V	H:374	(136.41, -21.16, 85.81)
6:31919012	COSM3662400	N>K	H:624	(138.04, -58.90, 68.98)

2XWB.H | CFB.

2XWB.H | CFB

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