2XY9.A | ACE – ASTRID

2XY9.A | ACE

General Structure Information

PDB ID	2xy9
HGNC Gene Label(s)	ACE
Structure Name	human angiotensin converting enzyme in complex with phosphinic tripeptide
Resolution	1.97Å
Reference	AUTH M.AKIF,S.L.SCHWAGER,C.S.ANTHONY,B.CZARNY,F.BEAU,V.DIVE,AUTH 2 E.D.STURROCK,K.R.ACHARYATITL NOVEL MECHANISM OF INHIBITION OF HUMAN ANGIOTENSIN-TITL 2 I-CONVERTING ENZYME (ACE) BY A HIGHLY SPECIFIC PHOSPHINICTITL 3 TRIPEPTIDE.REF BIOCHEM.J. V. 436 53 2011REFN ISSN 0264-6021PMID 21352096DOI 10.1042/BJ20102123

Variant Set Distributions

ExAC Variants

Number Of Residues	580
Number Of SNVs	172
Number Of Permutations	29209
Optimal Distance Threshold	12.0
K Statistic	0.05
p-value	0.361

COSMIC

Number Of Residues	580
Number Of SNVs	10
Number Of Permutations	8913
Optimal Distance Threshold	31.0
K Statistic	0.333
p-value	0.483

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	172
Number Of COSMIC SNVs	11
Optimal Distance Threshold	7.0
K Statistic	-0.013
p-value	0.75

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:61562608		D>N	A:40	(12.46, 31.62, -1.80)
17:61562647		R>W	A:53	(18.74, 13.87, 3.29)
17:61562654	rs147429960	S>C	A:55	(15.34, 10.13, -2.06)
17:61562671	rs201804955 COSM3520659 COSM3520660 COSM3520661	E>K	A:61	(15.04, 1.23, 1.64)
17:61562680	COSM97825 COSM3720690 COSM3720691	E>K	A:64	(15.98, -3.99, -2.55)
17:61562694	rs564928656	N>K	A:68	(14.76, -9.10, -2.97)
17:61562707	rs371131106	I>V	A:73	(8.65, -14.90, -7.08)
17:61562710		T>A	A:74	(8.08, -15.33, -2.41)
17:61562718		E>D	A:76	(8.31, -12.73, 2.93)
17:61562720		T>N	A:77	(9.25, -11.28, -1.36)
17:61563930		M>V	A:86	(2.99, 1.44, 1.85)
17:61563939		A>T	A:89	(4.24, 6.84, -1.37)
17:61563943		N>S	A:90	(4.66, 8.61, 2.70)
17:61563968		Q>H	A:98	(6.92, 20.01, 0.33)
17:61563970		A>V	A:99	(6.84, 20.94, -4.71)
17:61563976		K>R	A:101	(3.80, 24.74, -1.57)
17:61563988		N>S	A:105	(7.70, 29.52, -14.13)
17:61564001		N>K	A:109	(18.67, 27.32, -10.87)
17:61564005		T>A	A:111	(19.14, 22.44, -11.95)
17:61564010		I>M	A:112	(16.59, 24.00, -8.60)
17:61564014	rs200649158	R>W	A:114	(14.82, 19.94, -15.54)
17:61564015	rs371010069	R>Q	A:114	(14.82, 19.94, -15.54)
17:61564020		I>V	A:116	(10.86, 21.43, -8.18)
17:61564025	rs188993222	K>N	A:117	(8.71, 20.35, -13.72)
17:61564032	rs139263584	Q>E	A:120	(5.45, 19.42, -9.07)
17:61564044	rs375232467	R>W	A:124	(2.55, 4.88, -7.71)
17:61564045	rs201527082	R>Q	A:124	(2.55, 4.88, -7.71)
17:61564048		A>E	A:125	(1.15, 8.83, -5.03)
17:61564059	rs199785479	A>S	A:129	(-5.26, 4.69, -0.27)
17:61564069		L>Q	A:132	(-1.99, 3.23, -4.01)
17:61564352		N>K	A:136	(0.60, -1.16, -6.11)
17:61564393	rs200503880	T>I	A:150	(3.62, -22.28, -18.49)
17:61564395		V>L	A:151	(3.05, -23.68, -22.66)
17:61564396	rs377567489	V>A	A:151	(3.05, -23.68, -22.66)
17:61564405	rs143843660	P>L	A:154	(-0.78, -33.38, -23.58)
17:61564417	rs370481039	C>Y	A:158	(5.95, -27.49, -19.20)
17:61564420	rs145819052	L>Q	A:159	(7.51, -25.02, -22.53)
17:61564428	rs148995315	E>K	A:162	(13.30, -16.65, -20.95)
17:61566011	rs374146846	L>V	A:165	(8.57, -20.79, -25.90)
17:61566015		T>M	A:166	(12.63, -18.06, -27.25)
17:61566020	rs143830698	V>M	A:168	(10.63, -22.86, -30.61)
17:61566023	rs559585445	M>V	A:169	(9.55, -18.94, -32.25)
17:61566029	rs199869667	T>A	A:171	(15.03, -22.87, -34.08)
17:61566030		T>M	A:171	(15.03, -22.87, -34.08)
17:61566035		R>W	A:173	(12.83, -23.03, -39.31)
17:61566036		R>Q	A:173	(12.83, -23.03, -39.31)
17:61566049		D>E	A:177	(5.91, -26.94, -34.17)
17:61566056		W>G	A:180	(2.41, -25.63, -28.77)
17:61566065	COSM3795929 COSM3795930 COSM3795931	E>K	A:183	(-2.37, -20.05, -29.94)
17:61566075	COSM3520668 COSM3520669 COSM3520670	R>Q	A:186	(-0.15, -15.09, -27.86)
17:61566081		K>T	A:188	(-1.41, -20.07, -20.68)
17:61566083		A>T	A:189	(-0.36, -15.01, -20.96)
17:61566084	rs373970727	A>V	A:189	(-0.36, -15.01, -20.96)
17:61566111	rs367822781 COSM211925	P>L	A:198	(-9.57, -2.88, -17.40)
17:61566119		V>M	A:201	(-6.53, 1.79, -17.73)
17:61566125		L>F	A:203	(-6.23, 3.13, -11.34)
17:61566128		I>V	A:204	(-2.54, 4.70, -15.11)
17:61566138		A>V	A:207	(-2.97, 9.36, -11.61)
17:61566143	rs142799747	R>W	A:209	(-7.29, 12.14, -14.35)
17:61566144	rs375979946	R>Q	A:209	(-7.29, 12.14, -14.35)
17:61566150		N>S	A:211	(-0.24, 14.42, -11.49)
17:61566314		A>V	A:216	(-1.30, 8.16, -19.25)
17:61566320		D>V	A:218	(-0.47, 13.25, -21.90)
17:61566332	rs200757344	S>C	A:222	(5.15, 14.77, -21.69)
17:61566335	rs13306091	M>T	A:223	(8.24, 12.67, -19.82)
17:61566340	rs267604983	E>K	A:225	(10.69, 17.97, -22.20)
17:61566344		T>I	A:226	(8.75, 17.37, -27.48)
17:61566347		P>L	A:227	(5.85, 19.93, -28.38)
17:61566377	rs537201274	F>S	A:237	(6.76, 4.81, -39.84)
17:61566409	rs377172559	H>Y	A:248	(7.02, -7.46, -45.78)
17:61566418	rs369111551	V>M	A:251	(10.95, -11.95, -45.94)
17:61566424	COSM417407 COSM1133501	R>W	A:253	(8.86, -14.41, -52.99)
17:61566425		R>Q	A:253	(8.86, -14.41, -52.99)
17:61566431		L>P	A:255	(8.51, -17.14, -45.69)
17:61566433	rs140056206	H>Y	A:256	(6.05, -18.59, -51.31)
17:61566436		R>C	A:257	(12.01, -19.75, -50.91)
17:61566437	COSM236675	R>H	A:257	(12.01, -19.75, -50.91)
17:61566456	COSM324624	H>Q	A:263	(0.72, -22.41, -46.30)
17:61566457		I>V	A:264	(2.75, -17.41, -48.01)
17:61566478	COSM3520677 COSM3520678 COSM3520679	P>S	A:271	(2.11, -15.24, -41.24)
17:61568318		N>S	A:277	(10.18, -13.17, -32.34)
17:61568320		M>V	A:278	(6.62, -15.01, -29.63)
17:61568322		M>I	A:278	(6.62, -15.01, -29.63)
17:61568323	rs568842388	W>R	A:279	(6.88, -11.16, -28.89)
17:61568333		T>N	A:282	(13.11, -9.00, -34.13)
17:61568348		Y>C	A:287	(20.73, -14.84, -42.39)
17:61568359	rs145422285	V>M	A:291	(20.69, -15.79, -47.25)
17:61568374		A>S	A:296	(28.32, -16.78, -48.31)
17:61568384		M>T	A:299	(30.12, -20.19, -38.91)
17:61568387		D>G	A:300	(26.27, -22.11, -35.43)
17:61568395		E>K	A:303	(28.31, -24.92, -32.64)
17:61568410	rs372614913	Q>E	A:308	(34.98, -21.43, -28.44)
17:61568576		T>A	A:311	(29.90, -18.24, -19.82)
17:61568577	rs3730043	T>M	A:311	(29.90, -18.24, -19.82)
17:61568579		P>A	A:312	(26.92, -16.18, -18.74)
17:61568580		P>R	A:312	(26.92, -16.18, -18.74)
17:61568589		M>T	A:315	(28.41, -13.22, -22.37)
17:61568594	rs551723440	K>E	A:317	(33.62, -10.41, -17.77)
17:61568625		G>A	A:327	(37.28, 4.57, -21.68)
17:61568633	rs199555061	P>S	A:330	(34.68, -0.16, -15.11)
17:61568634	rs537884559 COSM228668	P>L	A:330	(34.68, -0.16, -15.11)
17:61568636	COSM3795932 COSM417406 COSM1133502 COSM3795933 COSM3795934	V>M	A:331	(31.53, -2.94, -13.75)
17:61568645		E>Q	A:334	(28.87, -4.40, -5.58)
17:61568656	rs201517271	N>K	A:337	(29.19, -10.67, -5.56)
17:61568658		K>R	A:338	(25.06, -7.79, -5.26)
17:61568669	rs201076681	E>K	A:342	(22.86, -17.22, -14.42)
17:61568675		P>S	A:344	(17.95, -19.44, -10.90)
17:61568688	rs143507892	R>Q	A:348	(15.82, -18.49, -6.91)
17:61568699		C>R	A:352	(13.75, -13.62, -16.68)
17:61568700		C>S	A:352	(13.75, -13.62, -16.68)
17:61568705		A>T	A:354	(16.04, -8.00, -18.93)
17:61568706		A>D	A:354	(16.04, -8.00, -18.93)
17:61568711		A>P	A:356	(19.04, -2.53, -15.16)
17:61568726		N>D	A:361	(24.40, 3.79, -3.60)
17:61568741	COSM2795061 COSM2795062 COSM2795063	R>W	A:366	(22.22, -5.21, -8.43)
17:61568742	rs554004241	R>Q	A:366	(22.22, -5.21, -8.43)
17:61570816	rs141750591	V>M	A:373	(25.20, -19.29, -24.45)
17:61570849	COSM3820193 COSM3820194 COSM3820195	E>K	A:384	(21.07, -4.46, -20.06)
17:61570855		G>S	A:386	(24.57, 0.58, -20.86)
17:61570861		I>V	A:388	(25.12, -0.27, -15.73)
17:61570867	rs141864294	Y>H	A:390	(23.33, 6.94, -19.05)
17:61570873		M>V	A:392	(28.61, 4.08, -13.71)
17:61570892	rs377280373	P>L	A:398	(21.11, 14.95, -8.31)
17:61570904	COSM3989218 COSM3989219 COSM3989220	R>K	A:402	(20.85, 9.65, -9.89)
17:61570921	rs571848794	G>S	A:408	(16.16, 6.51, -25.50)
17:61570922	rs540734174	G>A	A:408	(16.16, 6.51, -25.50)
17:61570928		H>R	A:410	(19.39, 4.74, -20.40)
17:61570929	rs144751624	H>Q	A:410	(19.39, 4.74, -20.40)
17:61570937	rs4976	I>T	A:413	(24.18, 3.70, -24.83)
17:61570945		V>M	A:416	(25.84, 2.02, -30.11)
17:61570954		L>F	A:419	(25.81, -1.65, -34.06)
17:61570967		T>M	A:423	(30.92, -6.29, -36.98)
17:61570969		P>S	A:424	(31.83, -9.15, -39.52)
17:61570974	rs374679629	K>N	A:425	(36.53, -6.51, -37.68)
17:61570982		H>P	A:428	(37.61, -13.25, -37.07)
17:61570992	rs142947404	N>K	A:431	(37.35, -16.99, -32.87)
17:61571020		E>K	A:441	(28.18, -11.63, -52.43)
17:61571291		I>V	A:444	(24.30, -7.49, -49.08)
17:61571294		N>D	A:445	(24.74, -11.53, -46.55)
17:61571309	rs144926742	M>L	A:450	(21.89, -5.84, -38.84)
17:61571311		M>I	A:450	(21.89, -5.84, -38.84)
17:61571312	rs569898686	A>T	A:451	(17.70, -5.40, -41.11)
17:61571327	COSM3403101 COSM3403102 COSM3403103	A>T	A:456	(11.54, -4.76, -38.37)
17:61571330		F>L	A:457	(11.73, -2.86, -33.23)
17:61571351	rs147763588	V>I	A:464	(3.06, -0.78, -28.72)
17:61571354	rs571910640	D>N	A:465	(2.77, 3.10, -27.11)
17:61571357		Q>K	A:466	(0.17, 4.59, -31.57)
17:61571363		R>C	A:468	(0.32, 1.27, -24.16)
17:61571372	rs534480370 COSM1189532 COSM1189533	V>L	A:471	(-6.31, 2.42, -24.29)
17:61571379	rs375039288	D>G	A:473	(-7.61, 8.27, -25.40)
17:61571382		G>E	A:474	(-10.73, 5.86, -25.01)
17:61571387		I>V	A:476	(-9.06, 1.43, -27.57)
17:61571410		Q>H	A:483	(-10.44, -6.37, -32.05)
17:61571426		R>G	A:489	(0.74, -6.85, -35.31)
17:61571755	rs145349565	P>T	A:497	(-3.50, -13.59, -37.44)
17:61571758		P>T	A:498	(-2.00, -17.57, -37.49)
17:61571777		G>V	A:504	(-10.60, -13.59, -24.53)
17:61571787		D>E	A:507	(-2.85, -11.15, -28.05)
17:61571795	rs565263717	A>D	A:510	(1.96, -11.60, -24.38)
17:61571818	rs373319603	V>M	A:518	(7.24, -0.71, -19.75)
17:61571827	rs567659245	I>L	A:521	(8.09, 5.34, -27.95)
17:61573762	rs575830312	V>I	A:525	(13.72, 6.90, -29.99)
17:61573766		S>I	A:526	(16.77, 3.79, -29.71)
17:61573777		Q>K	A:530	(21.04, 3.06, -32.35)
17:61573778		Q>R	A:530	(21.04, 3.06, -32.35)
17:61573804	rs138675881	Q>E	A:539	(33.35, 11.67, -37.08)
17:61573805		Q>P	A:539	(33.35, 11.67, -37.08)
17:61573820		T>M	A:544	(36.36, 6.29, -43.93)
17:61573840		D>N	A:551	(34.61, -1.45, -35.10)
17:61573864	rs145579007	G>R	A:559	(33.81, 7.50, -25.50)
17:61573870		R>C	A:561	(31.73, 12.55, -29.13)
17:61573871	rs201126192	R>H	A:561	(31.73, 12.55, -29.13)
17:61573876		A>T	A:563	(30.66, 10.40, -21.53)
17:61574163		A>T	A:565	(26.30, 12.96, -22.50)
17:61574193		P>A	A:575	(18.17, 18.58, -27.46)
17:61574194		P>L	A:575	(18.17, 18.58, -27.46)
17:61574202	rs376826294	M>V	A:578	(21.38, 14.75, -29.95)
17:61574203		M>T	A:578	(21.38, 14.75, -29.95)
17:61574204		M>I	A:578	(21.38, 14.75, -29.95)
17:61574213		I>M	A:581	(26.55, 12.86, -29.40)
17:61574215	rs12709442	T>M	A:582	(25.41, 14.55, -33.34)
17:61574233		S>N	A:588	(17.52, 11.81, -37.92)
17:61574239		S>L	A:590	(19.59, 10.21, -42.10)
17:61574241		A>T	A:591	(21.92, 7.51, -40.33)
17:61574244	rs201870045	M>V	A:592	(18.80, 3.91, -40.08)
17:61574258		F>L	A:596	(20.51, -0.29, -43.49)
17:61574263	rs369760270	P>L	A:598	(23.59, -0.45, -49.64)
17:61574286		E>K	A:606	(15.77, -9.33, -55.78)
17:61574290	rs574717474	N>T	A:607	(11.88, -6.96, -54.76)
17:61574292	rs149590791	E>K	A:608	(12.22, -4.24, -59.30)
17:61574311	rs140941300	L>P	A:614	(5.86, -2.96, -52.35)
17:61574319	rs144888208	P>S	A:617	(-2.73, -5.45, -51.35)
17:61574320		P>L	A:617	(-2.73, -5.45, -51.35)
17:61574325		Y>H	A:619	(-6.91, -5.27, -46.68)
17:61574329		N>T	A:620	(-8.86, -8.79, -45.81)
17:61574333		W>C	A:621	(-4.03, -14.19, -46.43)
17:61574334		T>A	A:622	(-6.22, -14.94, -43.34)
17:61574338	rs121912703	P>L	A:623	(-4.41, -18.15, -42.82)

2XY9.A | ACE.

2XY9.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
17:61562671	COSM3520661	E>K	A:61	(15.04, 1.23, 1.64)
17:61562680	COSM3720690	E>K	A:64	(15.98, -3.99, -2.55)
17:61562696	COSM3717521	Y>C	A:69	(8.75, -10.38, -6.15)
17:61563963	COSM2794988	T>A	A:97	(2.71, 18.29, -1.44)
17:61563991	COSM2794989	Q>R	A:106	(8.14, 32.69, -9.93)
17:61566066	COSM1181586	E>G	A:183	(-2.37, -20.05, -29.94)
17:61566478	COSM3520677	P>S	A:271	(2.11, -15.24, -41.24)
17:61568327	COSM1750222	A>V	A:280	(7.51, -10.28, -34.97)
17:61568381	COSM1385151	S>L	A:298	(27.87, -18.49, -41.72)
17:61568729	COSM1710616	G>S	A:362	(26.88, 4.99, -6.38)
17:61568741	COSM2795063	R>W	A:366	(22.22, -5.21, -8.43)
17:61571372	COSM4988977	V>L	A:471	(-6.31, 2.42, -24.29)
17:61574245	COSM3717523	M>T	A:592	(18.80, 3.91, -40.08)
17:61574337	COSM4648062	P>S	A:623	(-4.41, -18.15, -42.82)