2C6F.A | ACE – ASTRID

2C6F.A | ACE

General Structure Information

PDB ID	2c6f
HGNC Gene Label(s)	ACE
Structure Name	structure of human somatic angiontensin-i converting enzyme n domain
Resolution	3.01Å
Reference	AUTH H.R.CORRADI,S.L.U.SCHWAGER,A.T.NCHINDA,AUTH 2 E.D.STURROCK,K.R.ACHARYATITL CRYSTAL STRUCTURE OF THE N DOMAIN OF HUMAN SOMATICTITL 2 ANGIOTENSIN I-CONVERTING ENZYME PROVIDES ATITL 3 STRUCTURAL BASIS FOR DOMAIN-SPECIFIC INHIBITORTITL 4 DESIGN.REF J.MOL.BIOL. V. 357 964 2006REFN ISSN 0022-2836PMID 16476442DOI 10.1016/J.JMB.2006.01.048

Variant Set Distributions

ExAC Variants

Number Of Residues	612
Number Of SNVs	220
Number Of Permutations	72969
Optimal Distance Threshold	8.0
K Statistic	0.016
p-value	0.963

COSMIC

Number Of Residues	612
Number Of SNVs	12
Number Of Permutations	1511
Optimal Distance Threshold	15.0
K Statistic	0.227
p-value	0.025

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	220
Number Of COSMIC SNVs	9
Optimal Distance Threshold	15.0
K Statistic	0.162
p-value	0.021

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:61554562		P>L	A:7	(-23.21, -45.82, -13.73)
17:61554579	rs376354160	D>N	A:13	(-20.46, -58.33, -23.67)
17:61554588		G>R	A:16	(-24.06, -54.82, -22.61)
17:61554589		G>E	A:16	(-24.06, -54.82, -22.61)
17:61554595		Q>R	A:18	(-27.34, -52.43, -26.81)
17:61554602		F>L	A:20	(-23.57, -48.33, -20.93)
17:61554610		S>N	A:23	(-29.11, -46.65, -18.98)
17:61554611	rs368265670	S>R	A:23	(-29.11, -46.65, -18.98)
17:61554637		L>Q	A:32	(-28.54, -33.08, -20.63)
17:61554644		Q>H	A:34	(-29.50, -29.90, -15.21)
17:61554645		S>G	A:35	(-27.71, -28.09, -18.11)
17:61554646		S>N	A:35	(-27.71, -28.09, -18.11)
17:61554664	rs372565955	A>V	A:41	(-31.90, -18.67, -17.20)
17:61554668		H>Q	A:42	(-27.10, -16.89, -18.02)
17:61554669		D>Y	A:43	(-28.85, -16.98, -21.86)
17:61554704		Q>H	A:54	(-24.57, -22.59, -15.75)
17:61555295	rs150382846	E>K	A:56	(-23.40, -25.89, -11.14)
17:61555304		L>V	A:59	(-19.76, -29.27, -11.78)
17:61555308		L>H	A:60	(-23.81, -32.08, -11.98)
17:61555310		S>G	A:61	(-22.76, -32.63, -16.37)
17:61555317		E>G	A:63	(-20.13, -34.94, -11.65)
17:61555323		A>V	A:65	(-19.54, -37.48, -18.09)
17:61555328		A>P	A:67	(-18.88, -41.73, -15.02)
17:61555337		Q>E	A:70	(-14.65, -44.11, -17.53)
17:61555343		A>T	A:72	(-17.40, -46.98, -21.27)
17:61555362		P>R	A:78	(-10.88, -53.00, -26.06)
17:61555395	COSM982586	R>H	A:89	(-19.93, -48.98, -34.00)
17:61555400		I>F	A:91	(-23.76, -44.34, -28.76)
17:61555401		I>T	A:91	(-23.76, -44.34, -28.76)
17:61555403	rs539067889	I>V	A:92	(-19.97, -46.59, -26.94)
17:61555415		R>C	A:96	(-13.86, -42.59, -25.86)
17:61555425		G>A	A:99	(-13.80, -33.65, -22.36)
17:61555445		A>T	A:106	(-10.44, -26.69, -10.29)
17:61555451		R>G	A:108	(-14.37, -30.05, -13.84)
17:61555452	rs556087296	R>Q	A:108	(-14.37, -30.05, -13.84)
17:61555457		Q>E	A:110	(-10.64, -22.59, -13.73)
17:61556385		S>R	A:116	(-20.05, -17.37, -17.84)
17:61556387		N>I	A:117	(-17.45, -14.59, -17.50)
17:61556389	rs201716509	M>V	A:118	(-16.22, -15.23, -22.34)
17:61556390	COSM982587	M>T	A:118	(-16.22, -15.23, -22.34)
17:61556397		R>S	A:120	(-20.26, -11.07, -18.25)
17:61556407	rs138437902	T>A	A:124	(-22.67, -6.44, -21.16)
17:61556410	rs13306087	A>T	A:125	(-21.11, -4.55, -24.24)
17:61556415	rs143320537	K>N	A:126	(-22.90, -0.96, -23.37)
17:61556416	COSM371798	V>F	A:127	(-20.73, 2.11, -27.36)
17:61556428		N>H	A:131	(-19.39, 14.08, -23.93)
17:61556429	rs117134739	N>S	A:131	(-19.39, 14.08, -23.93)
17:61556453	rs139076951	L>P	A:139	(-24.32, -5.24, -30.71)
17:61557139		N>S	A:145	(-29.78, -0.73, -36.79)
17:61557145		L>P	A:147	(-23.49, -1.16, -39.18)
17:61557154	rs374910265 COSM3970221	S>L	A:150	(-25.47, 4.47, -41.63)
17:61557157	rs369022610	R>Q	A:151	(-25.30, 4.55, -45.72)
17:61557163		Y>C	A:153	(-16.02, 6.53, -42.89)
17:61557165	rs12720754	A>T	A:154	(-17.80, 8.52, -38.96)
17:61557168		M>V	A:155	(-21.99, 7.10, -37.40)
17:61557171		L>F	A:156	(-20.25, 3.57, -39.72)
17:61557186		E>Q	A:161	(-13.33, 2.23, -32.82)
17:61557201		A>T	A:166	(-15.65, -3.09, -25.97)
17:61557202	rs376986357 COSM1189531	A>V	A:166	(-15.65, -3.09, -25.97)
17:61557205		A>V	A:167	(-15.59, -6.66, -26.80)
17:61557208		G>D	A:168	(-12.23, -7.53, -26.87)
17:61557210		I>L	A:169	(-9.65, -5.16, -25.06)
17:61557214	rs553520266	P>L	A:170	(-12.05, -7.37, -22.41)
17:61557220		K>T	A:172	(-6.78, -11.09, -25.33)
17:61557223	rs148460287	P>L	A:173	(-7.48, -12.36, -21.15)
17:61557231		E>K	A:176	(-5.14, -16.21, -23.61)
17:61557235		D>V	A:177	(-6.83, -18.85, -19.80)
17:61557243		A>T	A:180	(-5.53, -24.05, -22.32)
17:61557249		S>G	A:182	(-10.04, -26.91, -24.12)
17:61557252		N>D	A:183	(-6.37, -27.90, -25.69)
17:61557254		N>K	A:183	(-6.37, -27.90, -25.69)
17:61557258	rs142677199	A>T	A:185	(-9.23, -31.88, -22.11)
17:61557273		G>S	A:190	(-6.62, -37.92, -28.21)
17:61557700		F>L	A:191	(-8.79, -35.66, -30.09)
17:61557710		T>M	A:194	(-10.12, -28.41, -29.49)
17:61557715		A>S	A:196	(-9.02, -31.92, -33.98)
17:61557718		Y>H	A:197	(-13.62, -32.86, -30.62)
17:61557724	rs141543325	R>C	A:199	(-10.58, -30.65, -37.51)
17:61557742		P>S	A:205	(-9.48, -38.05, -44.12)
17:61557751		E>K	A:208	(-8.28, -29.19, -43.68)
17:61557757	rs77294580	D>N	A:210	(-12.06, -31.59, -49.32)
17:61557773	rs3730025	Y>C	A:215	(-12.62, -20.32, -51.12)
17:61557784		E>Q	A:219	(-11.62, -16.92, -54.62)
17:61557788		P>L	A:220	(-13.86, -16.61, -58.33)
17:61557791		L>P	A:221	(-18.17, -16.26, -57.23)
17:61557809		A>V	A:227	(-15.15, -5.23, -57.23)
17:61557817		R>C	A:230	(-13.60, -2.29, -54.69)
17:61557818	rs370903033	R>H	A:230	(-13.60, -2.29, -54.69)
17:61557820	rs147670020	R>C	A:231	(-16.73, 1.32, -59.19)
17:61557821	rs150011877	R>H	A:231	(-16.73, 1.32, -59.19)
17:61557824	rs564933233	A>V	A:232	(-20.32, 1.24, -55.46)
17:61557833		R>H	A:235	(-20.26, 4.77, -57.61)
17:61557839	rs373616533	Y>C	A:237	(-18.70, 6.26, -48.69)
17:61557841	rs149412997	G>R	A:238	(-14.83, 8.06, -52.54)
17:61557846		D>E	A:239	(-10.62, 8.47, -54.03)
17:61557853	rs530535736	I>V	A:242	(-12.90, 3.47, -51.16)
17:61557871		I>V	A:248	(-13.30, -3.00, -48.72)
17:61557884		L>Q	A:252	(-18.37, 0.64, -45.36)
17:61558467	rs199591851	Q>R	A:259	(-21.07, -11.81, -41.95)
17:61558470		S>N	A:260	(-23.54, -9.83, -44.80)
17:61558476		E>A	A:262	(-28.29, -8.32, -46.85)
17:61558493	rs61740982	V>M	A:268	(-25.28, -2.33, -55.23)
17:61558496		V>L	A:269	(-29.19, -2.06, -57.10)
17:61558499		P>T	A:270	(-28.22, -3.38, -60.43)
17:61558524		D>G	A:278	(-37.00, -5.55, -49.58)
17:61558532	rs144137849	S>G	A:281	(-40.82, -1.98, -46.06)
17:61558533		S>N	A:281	(-40.82, -1.98, -46.06)
17:61558536		T>S	A:282	(-44.03, -4.33, -46.69)
17:61558538	rs367998749	M>V	A:283	(-42.54, -6.82, -42.90)
17:61558539	rs201588518	M>T	A:283	(-42.54, -6.82, -42.90)
17:61558927	rs561813163	G>C	A:287	(-47.69, -4.99, -38.71)
17:61558940	rs139137100	T>M	A:291	(-45.29, -13.79, -33.36)
17:61558951	rs35141294	R>W	A:295	(-48.18, -17.51, -37.82)
17:61558952	rs374029266	R>Q	A:295	(-48.18, -17.51, -37.82)
17:61558954		V>M	A:296	(-44.94, -17.20, -41.83)
17:61558971		F>L	A:301	(-41.14, -25.74, -41.73)
17:61558979		L>Q	A:304	(-43.22, -29.27, -46.61)
17:61558990	COSM3520651	P>A	A:308	(-45.92, -28.33, -35.99)
17:61558991		P>L	A:308	(-45.92, -28.33, -35.99)
17:61559002	rs201456235	E>K	A:312	(-44.29, -27.27, -25.27)
17:61559006		F>S	A:313	(-41.69, -22.94, -29.58)
17:61559018	COSM1580407	S>L	A:317	(-40.06, -19.27, -26.48)
17:61559024		L>P	A:319	(-39.78, -14.83, -29.85)
17:61559027		E>A	A:320	(-40.09, -10.24, -28.34)
17:61559033	rs2229839	P>L	A:322	(-37.17, -8.68, -23.02)
17:61559038	rs148193919	D>N	A:324	(-37.79, -6.26, -17.38)
17:61559041	rs142350301	G>R	A:325	(-34.53, -5.16, -18.21)
17:61559044		R>W	A:326	(-35.15, -9.79, -18.52)
17:61559045		R>Q	A:326	(-35.15, -9.79, -18.52)
17:61559053		V>M	A:329	(-27.86, -13.59, -24.89)
17:61559059	rs199690936	H>Y	A:331	(-26.83, -14.51, -31.22)
17:61559062	rs546455400	A>T	A:332	(-30.04, -16.26, -32.23)
17:61559066	rs142328237	S>W	A:333	(-30.72, -19.56, -30.42)
17:61559069	rs370491569	A>V	A:334	(-31.75, -23.29, -30.72)
17:61559084	rs369713789	N>S	A:339	(-37.40, -33.43, -22.85)
17:61559832		K>R	A:346	(-32.35, -17.11, -27.54)
17:61559843		R>W	A:350	(-38.62, -5.33, -34.57)
17:61559847		V>D	A:351	(-39.56, -6.22, -38.03)
17:61559850	rs150466411	T>M	A:352	(-36.02, -7.35, -40.53)
17:61559852	rs370890237	M>V	A:353	(-35.83, -9.61, -45.11)
17:61559854		M>I	A:353	(-35.83, -9.61, -45.11)
17:61559856	rs374899854	D>G	A:354	(-32.40, -9.50, -42.48)
17:61559883	rs138418851	M>T	A:363	(-38.19, -22.84, -37.19)
17:61559889		H>R	A:365	(-31.56, -25.62, -35.77)
17:61559893		I>M	A:366	(-36.64, -26.52, -33.61)
17:61559907	rs548450663	Q>R	A:371	(-38.29, -34.94, -37.04)
17:61559910		Y>C	A:372	(-33.02, -35.39, -33.65)
17:61559922		P>R	A:376	(-30.46, -42.63, -29.03)
17:61559924	rs201117983	V>I	A:377	(-29.26, -38.85, -26.31)
17:61559928	rs570424963	S>F	A:378	(-25.96, -39.86, -28.23)
17:61559933	rs199746395	R>C	A:380	(-31.32, -36.75, -29.18)
17:61559934	rs371833006	R>H	A:380	(-31.32, -36.75, -29.18)
17:61559937	rs145172277	R>Q	A:381	(-26.25, -33.55, -32.46)
17:61559942		A>S	A:383	(-25.03, -35.58, -39.79)
17:61559951	rs149252911	G>S	A:386	(-24.09, -28.58, -41.33)
17:61559967	rs144494842	I>T	A:391	(-32.35, -27.70, -42.42)
17:61559975	rs148018765	V>M	A:394	(-33.11, -24.92, -47.68)
17:61559982	rs372626836 COSM473175	A>V	A:396	(-35.14, -19.82, -47.29)
17:61559991	rs147180606	V>G	A:399	(-39.07, -17.78, -48.81)
17:61560006		H>R	A:404	(-42.98, -17.64, -51.64)
17:61560008		L>V	A:405	(-42.17, -12.81, -51.40)
17:61560012		H>L	A:406	(-47.26, -12.04, -54.90)
17:61560015		K>R	A:407	(-47.87, -15.65, -52.37)
17:61560021		G>D	A:409	(-47.60, -10.31, -49.39)
17:61560027		L>R	A:411	(-43.50, -8.64, -53.81)
17:61560029		D>N	A:412	(-46.91, -6.16, -55.15)
17:61560032		R>C	A:413	(-45.51, -7.58, -58.02)
17:61560041		N>D	A:416	(-40.94, -11.49, -65.62)
17:61560047		T>A	A:418	(-33.67, -10.17, -67.08)
17:61560048	COSM1165617	T>M	A:418	(-33.67, -10.17, -67.08)
17:61560395	rs185115105	D>N	A:421	(-33.43, -12.52, -62.56)
17:61560458		V>M	A:442	(-13.24, -18.00, -38.37)
17:61560467		W>R	A:445	(-8.09, -17.14, -35.11)
17:61560470		R>C	A:446	(-11.44, -20.89, -33.66)
17:61560482		F>V	A:450	(-7.66, -24.39, -30.28)
17:61560491	rs201540553	R>C	A:453	(-0.94, -21.58, -37.03)
17:61560504		S>F	A:457	(1.64, -12.97, -29.88)
17:61560506	rs149784122	R>C	A:458	(1.55, -14.59, -33.70)
17:61560507	rs376430907 COSM1244096	R>H	A:458	(1.55, -14.59, -33.70)
17:61560512		N>D	A:460	(-5.26, -8.89, -34.10)
17:61560514	rs145755731	N>K	A:460	(-5.26, -8.89, -34.10)
17:61560527		Y>D	A:465	(-2.88, -13.35, -43.42)
17:61560530	rs374169715	L>F	A:466	(-6.93, -14.78, -42.25)
17:61560534		R>Q	A:467	(-11.20, -10.29, -41.84)
17:61560822		T>A	A:468	(-6.96, -9.03, -45.88)
17:61560829		Y>C	A:470	(-9.26, -15.89, -47.25)
17:61560835		G>E	A:472	(-10.69, -7.62, -48.59)
17:61560843		P>S	A:475	(-8.63, -2.08, -40.63)
17:61560846	rs148943954	P>A	A:476	(-11.08, 1.35, -40.03)
17:61560849		V>I	A:477	(-8.87, 2.11, -37.07)
17:61560856	COSM77203	R>Q	A:479	(-6.60, -2.25, -34.39)
17:61560858		N>D	A:480	(-2.58, -3.11, -31.52)
17:61560861	rs371544905 COSM982593	E>K	A:481	(-1.49, -7.90, -30.50)
17:61560864		T>A	A:482	(-4.13, -4.42, -27.37)
17:61560873	rs201762720 COSM1750219	D>N	A:485	(-10.73, -7.56, -33.41)
17:61560876	rs144294634	A>S	A:486	(-12.02, -12.13, -32.89)
17:61560891		H>N	A:491	(-20.01, -17.48, -33.05)
17:61560904	rs12720746	V>A	A:495	(-17.04, -21.58, -27.69)
17:61560906		T>A	A:496	(-19.29, -21.69, -31.79)
17:61560909		P>A	A:497	(-17.91, -24.20, -33.78)
17:61560913	rs376323371	Y>C	A:498	(-18.22, -19.68, -38.14)
17:61561212		Y>C	A:501	(-22.13, -21.43, -39.73)
17:61561215	rs551801825	F>C	A:502	(-17.73, -22.96, -46.15)
17:61561233		Q>R	A:508	(-27.77, -24.01, -48.63)
17:61561237		F>L	A:509	(-27.49, -23.72, -52.66)
17:61561245		H>R	A:512	(-32.94, -25.50, -53.57)
17:61561250		A>S	A:514	(-32.76, -32.21, -54.47)
17:61561272		Y>C	A:521	(-39.18, -26.08, -60.47)
17:61561278	rs145152527	G>D	A:523	(-36.52, -24.71, -64.15)
17:61561286		H>Y	A:526	(-32.90, -18.61, -59.81)
17:61561302		Y>C	A:531	(-45.69, -23.34, -50.44)
17:61561304	rs4314	R>W	A:532	(-48.78, -26.04, -49.82)
17:61561305	COSM3520658	R>Q	A:532	(-48.78, -26.04, -49.82)
17:61561310		T>P	A:534	(-45.84, -33.37, -49.80)
17:61561311		T>I	A:534	(-45.84, -33.37, -49.80)
17:61561316		A>T	A:536	(-40.12, -32.66, -50.90)
17:61561319		G>R	A:537	(-40.37, -33.09, -47.50)
17:61561320		G>E	A:537	(-40.37, -33.09, -47.50)
17:61561329		L>P	A:540	(-35.85, -32.90, -45.58)
17:61561331	rs567828872	R>W	A:541	(-39.62, -36.39, -43.08)
17:61561332	rs371599063	R>Q	A:541	(-39.62, -36.39, -43.08)
17:61561694		K>N	A:542	(-35.25, -38.63, -43.93)
17:61561710		S>P	A:548	(-25.61, -39.42, -35.70)
17:61561719		P>T	A:551	(-23.01, -41.99, -42.10)
17:61561735		L>P	A:556	(-25.64, -36.50, -48.87)
17:61561737	rs371414386	K>E	A:557	(-25.26, -41.19, -52.02)
17:61561749		G>S	A:561	(-26.18, -38.41, -54.99)
17:61561762		L>P	A:565	(-19.44, -31.00, -50.06)
17:61561764		D>Y	A:566	(-20.70, -30.19, -55.17)
17:61561767	rs530248886	A>S	A:567	(-20.32, -26.29, -55.86)
17:61561768	rs546796175	A>V	A:567	(-20.32, -26.29, -55.86)
17:61561774		P>L	A:569	(-25.09, -27.05, -57.05)
17:61561783		K>R	A:572	(-27.11, -24.73, -61.41)
17:61561816		E>A	A:583	(-19.18, -8.58, -69.10)
17:61561831	rs372497513	N>S	A:588	(-16.29, -0.75, -65.82)
17:61561833	rs111269527	G>S	A:589	(-11.75, -2.04, -65.27)
17:61561836	rs375452338	E>K	A:590	(-12.82, -2.81, -61.89)
17:61561854		E>K	A:596	(-2.77, -1.22, -53.25)
17:61561857		Y>D	A:597	(-0.19, -5.50, -49.60)
17:61561858		Y>S	A:597	(-0.19, -5.50, -49.60)
17:61561865	COSM707735	W>C	A:599	(-5.78, 1.57, -48.29)
17:61561870	rs142818229	P>L	A:601	(-8.36, 3.97, -44.25)
17:61561873		P>L	A:602	(-8.09, 7.95, -43.78)
17:61561885		N>S	A:606	(-11.73, 16.44, -36.35)
17:61561890		P>T	A:608	(-13.77, 11.29, -32.26)
17:61561891		P>L	A:608	(-13.77, 11.29, -32.26)
17:61561893		E>K	A:609	(-16.01, 14.77, -33.30)
17:61561896	rs72845024	G>S	A:610	(-19.64, 14.65, -34.51)
17:61561897		G>V	A:610	(-19.64, 14.65, -34.51)

2C6F.A | ACE.

2C6F.A | ACE

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:61557231	COSM2794895	E>K	A:176	(-5.14, -16.21, -23.61)
17:61557724	COSM393320	R>C	A:199	(-10.58, -30.65, -37.51)
17:61557763	COSM2794899	E>K	A:212	(-7.80, -25.46, -49.83)
17:61557833	COSM2794900	R>H	A:235	(-20.26, 4.77, -57.61)
17:61559947	COSM252317	N>K	A:384	(-22.78, -32.66, -40.43)
17:61559960	COSM1750218	E>K	A:389	(-26.52, -24.55, -39.31)
17:61559982	COSM473175	A>V	A:396	(-35.14, -19.82, -47.29)
17:61560507	COSM1244096	R>H	A:458	(1.55, -14.59, -33.70)
17:61560856	COSM77203	R>Q	A:479	(-6.60, -2.25, -34.39)
17:61560861	COSM982593	E>K	A:481	(-1.49, -7.90, -30.50)
17:61560873	COSM1750219	D>H	A:485	(-10.73, -7.56, -33.41)
17:61561867	COSM4597295	H>P	A:600	(-4.87, 0.79, -43.94)