2F83.A | F11 – ASTRID

2F83.A | F11

General Structure Information

PDB ID	2f83
HGNC Gene Label(s)	F11
Structure Name	crystal structure at 2.9 angstroms resolution of human plasma coagulation factor xi zymogen
Resolution	2.87Å
Reference	AUTH E.PAPAGRIGORIOU,P.A.MCEWAN,P.N.WALSH,J.EMSLEYTITL CRYSTAL STRUCTURE OF THE FACTOR XI ZYMOGEN REVEALS A PATHWAYTITL 2 FOR TRANSACTIVATION.REF NAT.STRUCT.MOL.BIOL. V. 13 557 2006REFN ISSN 1545-9993PMID 16699514DOI 10.1038/NSMB1095

Variant Set Distributions

ExAC Variants

Number Of Residues	583
Number Of SNVs	170
Number Of Permutations	32974
Optimal Distance Threshold	7.0
K Statistic	0.012
p-value	0.612

ClinVar

Number Of Residues	583
Number Of SNVs	13
Number Of Permutations	2791
Optimal Distance Threshold	18.0
K Statistic	0.231
p-value	0.191

COSMIC

Number Of Residues	583
Number Of SNVs	5
Number Of Permutations	1884
Optimal Distance Threshold	5.0
K Statistic	0.1
p-value	0.354

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	170
Number Of ClinVar SNVs	13
Optimal Distance Threshold	18.0
K Statistic	0.092
p-value	0.209

Cosmic vs. ExAC

Number Of ExAC SNVs	170
Number Of COSMIC SNVs	8
Optimal Distance Threshold	5.0
K Statistic	0.032
p-value	0.642

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
4:187192766		C>S	A:2	(42.32, 59.22, 103.04)
4:187192772		T>I	A:4	(37.71, 56.61, 101.68)
4:187192790		T>I	A:10	(37.09, 42.16, 104.05)
4:187192805		G>E	A:15	(44.18, 44.57, 116.28)
4:187192834	rs281875264 COSM586916 CM105317	A>T	A:25	(29.89, 50.03, 108.45)
4:187192844	rs281875271 CM051912	C>F	A:28	(31.91, 51.30, 112.47)
4:187192848		Q>H	A:29	(34.07, 54.49, 109.12)
4:187192864	rs55956266	H>Y	A:35	(38.73, 54.93, 119.45)
4:187192867		P>S	A:36	(41.15, 57.05, 120.60)
4:187192873	rs121965069	C>R	A:38	(40.93, 52.66, 115.73)
4:187192885		T>S	A:42	(36.09, 44.56, 110.54)
4:187192895	rs281875244	A>V	A:45	(26.59, 41.63, 108.34)
4:187192903	rs144595035	P>S	A:48	(23.39, 33.61, 105.69)
4:187192904	rs5968	P>L	A:48	(23.39, 33.61, 105.69)
4:187192916		P>L	A:52	(22.02, 35.71, 114.78)
4:187192922	rs567451638 CM095842	R>L	A:54	(29.17, 37.04, 115.48)
4:187194233		C>F	A:58	(32.35, 46.77, 115.50)
4:187194248		S>I	A:63	(48.30, 48.77, 113.77)
4:187194253		T>S	A:65	(51.77, 49.11, 110.00)
4:187194269		R>I	A:70	(43.40, 43.87, 102.82)
4:187194279		R>S	A:73	(33.83, 36.40, 106.33)
4:187194287	rs367856671	A>V	A:76	(32.75, 41.51, 105.59)
4:187194308	rs281875272 CM051913	K>R	A:83	(41.95, 59.23, 112.31)
4:187194313		C>R	A:85	(41.26, 62.52, 106.45)
4:187194317		S>L	A:86	(40.87, 65.93, 104.89)
4:187194325		I>V	A:89	(33.26, 65.32, 110.52)
4:187194331		A>T	A:91	(29.23, 63.22, 113.65)
4:187195283		D>E	A:95	(20.47, 57.01, 109.40)
4:187195285		I>T	A:96	(15.96, 55.69, 110.57)
4:187195303		M>T	A:102	(19.62, 49.53, 118.83)
4:187195304		M>I	A:102	(19.62, 49.53, 118.83)
4:187195309	rs369650561 CM030841	G>D	A:104	(19.57, 49.39, 126.31)
4:187195360		R>I	A:121	(10.25, 62.15, 122.58)
4:187195363	rs281875256 CM066067	C>Y	A:122	(16.14, 61.34, 121.91)
4:187195369		D>G	A:124	(15.34, 67.46, 122.82)
4:187195378	rs199657604 CM097439	H>R	A:127	(20.36, 60.88, 130.08)
4:187195380		C>R	A:128	(19.28, 59.68, 124.53)
4:187195398	rs199541645 CM035502	A>T	A:134	(6.54, 51.09, 117.75)
4:187195405	rs369850780	R>M	A:136	(1.49, 52.87, 112.62)
4:187195410	rs142929551	F>L	A:138	(4.54, 45.97, 116.73)
4:187195411	rs144674776	F>Y	A:138	(4.54, 45.97, 116.73)
4:187195428		R>C	A:144	(0.70, 48.99, 117.73)
4:187195429		R>H	A:144	(0.70, 48.99, 117.73)
4:187196973		G>E	A:155	(26.31, 54.74, 122.89)
4:187196985		R>I	A:159	(22.98, 43.14, 122.79)
4:187196991		T>M	A:161	(18.16, 42.52, 117.27)
4:187196994	rs190283743	K>R	A:162	(16.19, 42.15, 112.72)
4:187197005	rs374606272	V>M	A:166	(10.78, 47.98, 114.91)
4:187197388	COSM1618682 COSM3661025 CM035508	C>Y	A:182	(23.80, 74.79, 126.74)
4:187197405		P>S	A:188	(35.03, 78.35, 140.55)
4:187197412	rs148520354	T>M	A:190	(33.02, 74.13, 143.06)
4:187197441		V>L	A:200	(40.68, 61.84, 132.51)
4:187197445		M>T	A:201	(44.90, 63.17, 133.83)
4:187197463	rs200117212	V>D	A:207	(40.55, 69.82, 128.31)
4:187197481		T>S	A:213	(31.29, 67.40, 125.59)
4:187197484		H>R	A:214	(33.98, 63.96, 123.73)
4:187197510		F>V	A:223	(40.22, 69.85, 137.00)
4:187197512	rs281875265	F>L	A:223	(40.22, 69.85, 137.00)
4:187197520	rs5969	Q>R	A:226	(48.93, 72.12, 139.29)
4:187197522		E>K	A:227	(47.16, 74.33, 142.75)
4:187197538	COSM160866	S>C	A:232	(46.39, 61.74, 144.15)
4:187201167		N>Y	A:235	(45.79, 67.17, 136.73)
4:187201193	rs201079681 CM056951	E>D	A:243	(18.68, 59.67, 137.89)
4:187201207	rs145168351	S>N	A:248	(23.14, 66.73, 143.70)
4:187201210	rs543985619 COSM1428981	T>K	A:249	(25.00, 68.77, 145.56)
4:187201212		R>C	A:250	(25.72, 72.69, 145.22)
4:187201215		I>L	A:251	(30.68, 70.95, 147.54)
4:187201219	rs121965070	K>I	A:252	(33.44, 75.99, 148.80)
4:187201226	rs543055155	S>R	A:254	(39.71, 75.24, 146.73)
4:187201252	rs559466320	Q>P	A:263	(25.99, 67.23, 124.49)
4:187201262		R>S	A:266	(29.45, 68.47, 119.63)
4:187201270		I>T	A:269	(32.59, 75.22, 121.03)
4:187201380		F>S	A:272	(36.99, 66.41, 119.08)
4:187201388		S>A	A:275	(45.07, 75.17, 120.64)
4:187201412	rs121965064	F>L	A:283	(51.26, 65.58, 128.51)
4:187201428	rs549554738	L>Q	A:288	(55.20, 56.22, 118.71)
4:187201431		D>V	A:289	(59.22, 58.44, 117.98)
4:187201434		I>T	A:290	(62.23, 60.07, 120.48)
4:187201440	rs569456903	A>V	A:292	(64.33, 65.79, 115.99)
4:187201443		A>V	A:293	(63.17, 69.24, 117.09)
4:187201454	rs281875257 CM056950	E>K	A:297	(55.51, 74.58, 117.31)
4:187201476	rs281875269 CM950373	T>I	A:304	(49.61, 66.48, 113.67)
4:187201478	rs148825758	N>Y	A:305	(51.85, 64.47, 110.37)
4:187201484		V>I	A:307	(48.10, 58.54, 112.66)
4:187201487	rs28934608	R>C	A:308	(49.68, 55.02, 116.47)
4:187201494		Q>R	A:310	(47.07, 60.21, 121.24)
4:187201495		Q>H	A:310	(47.07, 60.21, 121.24)
4:187201500		F>C	A:312	(53.29, 66.82, 121.89)
4:187201512		P>L	A:316	(63.87, 71.93, 125.36)
4:187201515		A>V	A:317	(67.82, 72.65, 124.61)
4:187201527	rs5967	C>F	A:321	(73.74, 76.73, 125.29)
4:187201532	rs281875270 COSM1053948 CM950374	E>K	A:323	(71.44, 73.57, 119.52)
4:187201629		G>S	A:326	(65.43, 68.79, 120.17)
4:187201650		S>P	A:333	(46.91, 56.91, 125.48)
4:187201659		G>R	A:336	(44.75, 61.10, 127.30)
4:187201668		T>A	A:339	(50.72, 61.39, 134.65)
4:187201683	rs142096488	G>R	A:344	(59.55, 70.24, 135.76)
4:187201687		R>I	A:345	(59.88, 66.93, 135.52)
4:187201692		G>S	A:347	(58.31, 70.64, 129.24)
4:187201702		G>A	A:350	(50.37, 68.48, 123.46)
4:187201707		T>A	A:352	(47.25, 65.51, 117.36)
4:187201711		L>S	A:353	(46.10, 69.67, 116.05)
4:187201717	rs375440170 CM062632	L>S	A:355	(41.67, 66.00, 116.92)
4:187201727	COSM3602617 COSM3602618	M>I	A:358	(36.72, 65.79, 113.24)
4:187205249		C>Y	A:362	(33.57, 78.20, 112.86)
4:187205267		P>R	A:368	(45.96, 88.84, 116.08)
4:187205276		V>A	A:371	(43.25, 98.43, 115.22)
4:187205296	COSM3428398 COSM3428399 CM062627	R>C	A:378	(42.32, 90.99, 103.72)
4:187205302		E>K	A:380	(38.71, 91.76, 111.10)
4:187205309	rs533335580 CM995126	P>L	A:382	(36.32, 85.79, 107.20)
4:187205316	rs149689934	Q>H	A:384	(31.34, 89.60, 104.72)
4:187205317	rs281875266	V>L	A:385	(30.11, 88.16, 101.30)
4:187205320		T>A	A:386	(30.01, 91.30, 98.14)
4:187205329	rs369822221 CM035501	T>A	A:389	(23.59, 92.75, 90.57)
4:187205332		T>P	A:390	(24.63, 92.06, 86.51)
4:187205333	rs569013818	T>S	A:390	(24.63, 92.06, 86.51)
4:187205339		P>L	A:392	(21.81, 97.57, 85.66)
4:187205354		L>P	A:397	(22.24, 93.83, 96.02)
4:187205357		C>Y	A:398	(23.76, 92.60, 99.44)
4:187205362		G>S	A:400	(26.93, 88.00, 103.60)
4:187205363	rs121965071	G>D	A:400	(26.93, 88.00, 103.60)
4:187205365	rs568173895 CM097456	S>T	A:401	(27.28, 85.04, 105.69)
4:187205369		I>T	A:402	(30.62, 82.13, 104.48)
4:187205385	rs533626812 CM082626	W>C	A:407	(24.76, 76.64, 101.27)
4:187205395		A>T	A:411	(18.21, 88.48, 102.94)
4:187205398		A>T	A:412	(15.00, 87.77, 101.25)
4:187205411	rs200594686	Y>C	A:416	(11.44, 93.13, 94.48)
4:187205413		G>R	A:417	(13.38, 90.81, 90.98)
4:187206793		V>I	A:418	(16.21, 88.63, 91.07)
4:187206797		E>G	A:419	(14.36, 87.89, 86.61)
4:187206802		P>S	A:421	(20.42, 82.94, 89.77)
4:187206814	rs369435407 COSM586911 COSM3783797 CM062624	R>C	A:425	(29.13, 88.40, 89.39)
4:187206820	rs377383440	Y>H	A:427	(32.69, 89.15, 94.02)
4:187206823		S>G	A:428	(35.07, 86.35, 98.79)
4:187206853		E>Q	A:438	(36.79, 92.46, 83.79)
4:187206865	rs121965065	F>V	A:442	(32.62, 85.30, 90.34)
4:187206878		Q>R	A:446	(23.35, 76.24, 91.89)
4:187206886		I>V	A:449	(16.78, 78.96, 99.10)
4:187206890	rs371049900	I>T	A:450	(13.32, 82.67, 99.36)
4:187206895		D>N	A:452	(8.38, 78.64, 102.06)
4:187206919	rs542967227 CM030843	G>R	A:460	(9.25, 88.52, 108.07)
4:187206931	rs374061084	A>T	A:464	(18.09, 83.60, 102.33)
4:187206932	rs377394744	A>V	A:464	(18.09, 83.60, 102.33)
4:187206949		T>A	A:470	(31.89, 76.61, 93.34)
4:187206953		T>R	A:471	(33.33, 75.02, 96.91)
4:187206967		D>N	A:476	(43.49, 83.30, 107.11)
4:187207572		S>C	A:477	(40.68, 85.71, 104.10)
4:187207588		C>W	A:482	(29.15, 79.88, 113.59)
4:187207595	rs140068026	S>T	A:485	(23.55, 76.87, 119.28)
4:187207605	rs281875258	D>G	A:488	(23.13, 79.12, 123.21)
4:187207613	rs72710601	V>I	A:491	(23.13, 83.29, 125.53)
4:187207630	COSM1053955	C>W	A:496	(28.22, 92.37, 118.86)
4:187207634	rs200622588 CM084957	V>M	A:498	(27.60, 95.82, 112.39)
4:187207641		G>E	A:500	(29.74, 96.89, 105.81)
4:187208852		T>A	A:513	(36.48, 100.12, 102.96)
4:187208853		T>I	A:513	(36.48, 100.12, 102.96)
4:187208869		K>N	A:518	(30.49, 97.16, 119.19)
4:187208870	rs199911285	I>L	A:519	(26.21, 97.42, 117.74)
4:187208879		V>M	A:522	(17.88, 95.74, 121.77)
4:187208886		N>S	A:524	(12.19, 91.93, 121.67)
4:187208888	rs142952627	E>K	A:525	(10.35, 93.96, 126.18)
4:187208891		E>Q	A:526	(13.13, 98.32, 124.81)
4:187208906		Y>H	A:531	(10.01, 99.71, 115.72)
4:187208907		Y>C	A:531	(10.01, 99.71, 115.72)
4:187208912		G>R	A:533	(2.61, 98.92, 114.09)
4:187208913		G>E	A:533	(2.61, 98.92, 114.09)
4:187208916	rs369935706	H>R	A:534	(5.53, 97.87, 113.36)
4:187208924		T>A	A:537	(8.64, 88.29, 116.00)
4:187209608		G>E	A:555	(24.72, 97.32, 102.52)
4:187209610		D>Y	A:556	(24.35, 96.57, 105.73)
4:187209617	rs149873248	G>E	A:558	(22.42, 90.60, 104.71)
4:187209629		S>F	A:562	(28.67, 89.20, 114.41)
4:187209668	rs145906668	T>M	A:575	(20.43, 93.29, 108.06)
4:187209673		W>R	A:577	(12.57, 95.82, 109.66)
4:187209677		G>D	A:578	(15.93, 99.84, 109.60)
4:187209679	rs281875251 CM066065	E>K	A:579	(13.29, 103.65, 111.34)
4:187209703		P>S	A:587	(16.59, 100.38, 116.82)
4:187209727		E>K	A:595	(14.25, 80.95, 116.29)
4:187209733	rs202061241	V>M	A:597	(18.69, 76.42, 113.00)
4:187209734		V>G	A:597	(18.69, 76.42, 113.00)
4:187209736		D>N	A:598	(15.73, 73.70, 112.20)
4:187209746		L>P	A:601	(20.34, 72.26, 109.20)
4:187209748	rs148054334	E>Q	A:602	(15.64, 71.39, 105.68)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
4:187197388	COSM3661025	C>F	A:182	(23.80, 74.79, 126.74)
4:187197534	COSM3602607	E>K	A:231	(49.48, 64.00, 144.78)
4:187201170	COSM1053946	L>I	A:236	(41.37, 64.16, 138.50)
4:187201424	COSM209128	E>K	A:287	(57.60, 56.27, 124.37)
4:187201488	COSM1053947	R>H	A:308	(49.68, 55.02, 116.47)
4:187205291	COSM1053950	S>Y	A:376	(38.14, 96.90, 108.28)
4:187209608	COSM4530669	G>E	A:555	(24.72, 97.32, 102.52)
4:187209614	COSM1671466	S>L	A:557	(21.16, 94.19, 103.20)
4:187209661	COSM3602625	G>S	A:573	(21.89, 88.16, 112.56)

2F83.A | F11.

2F83.A | F11

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants