1SG4.A | ECI1 – ASTRID

1SG4.A | ECI1

General Structure Information

PDB ID	1sg4
HGNC Gene Label(s)	ECI1
Structure Name	crystal structure of human mitochondrial delta3-delta2- enoyl-coa isomerase
Resolution	1.3Å
Reference	AUTH S.T.PARTANEN,D.K.NOVIKOV,A.N.POPOV,A.M.MURSULA,AUTH 2 J.K.HILTUNEN,R.K.WIERENGATITL THE 1.3 A CRYSTAL STRUCTURE OF HUMAN MITOCHONDRIALTITL 2 DELTA3-DELTA2-ENOYL-COA ISOMERASE SHOWS A NOVELTITL 3 MODE OF BINDING FOR THE FATTY ACYL GROUP.REF J.MOL.BIOL. V. 342 1197 2004REFN ISSN 0022-2836PMID 15351645DOI 10.1016/J.JMB.2004.07.039

Variant Set Distributions

ExAC Variants

Number Of Residues	249
Number Of SNVs	77
Number Of Permutations	29459
Optimal Distance Threshold	9.0
K Statistic	0.058
p-value	0.938

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:2296985		V>L	A:15	(-18.69, -5.83, 38.47)
16:2296982	rs72766670	A>T	A:16	(-15.82, -5.02, 41.00)
16:2296955		V>L	A:25	(5.06, 0.95, 44.40)
16:2296936		E>G	A:31	(-1.89, -3.22, 55.47)
16:2296927	rs112729404	T>M	A:34	(-4.29, -8.69, 54.81)
16:2296911		S>R	A:39	(-11.48, -7.48, 49.93)
16:2296910	rs140831866	L>V	A:40	(-11.20, -11.52, 47.22)
16:2296896		E>D	A:44	(-15.34, -14.51, 47.13)
16:2296879	rs576184725 COSM325127	R>H	A:50	(-20.74, -13.43, 38.71)
16:2296876	rs201913960	G>D	A:51	(-16.58, -9.93, 39.16)
16:2296877	rs141206306	G>S	A:51	(-16.58, -9.93, 39.16)
16:2296870		I>T	A:53	(-11.52, -5.44, 37.36)
16:2296861	rs148482178	S>L	A:56	(-3.62, 0.72, 39.95)
16:2294553		D>N	A:57	(-5.86, 4.27, 41.90)
16:2294534	rs544132422	S>L	A:63	(3.14, -4.39, 42.07)
16:2294529	rs375300423	G>S	A:65	(6.11, -6.43, 45.36)
16:2294516	rs145712373	T>M	A:69	(9.65, -3.41, 55.38)
16:2294514	rs199757340	E>K	A:70	(7.18, -6.80, 56.01)
16:2294493	rs376657107	A>T	A:77	(6.82, -14.61, 63.57)
16:2294480	rs372341953	G>E	A:81	(3.10, -14.52, 58.33)
16:2294481		G>R	A:81	(3.10, -14.52, 58.33)
16:2294475		W>R	A:83	(6.30, -16.72, 51.85)
16:2294456		L>P	A:89	(-2.82, -13.29, 47.63)
16:2294452		W>C	A:90	(-0.99, -18.87, 44.42)
16:2294447	rs144791724	R>Q	A:92	(-8.23, -17.50, 49.35)
16:2294448	rs201346166	R>W	A:92	(-8.23, -17.50, 49.35)
16:2294431		N>K	A:97	(-15.30, -19.27, 42.63)
16:2294427		V>M	A:99	(-14.27, -13.60, 37.02)
16:2294415		A>T	A:103	(-5.80, -4.09, 34.63)
16:2293436		A>V	A:107	(4.79, -2.28, 36.30)
16:2293433		C>S	A:108	(4.41, -6.45, 36.62)
16:2293428		A>S	A:110	(7.23, -10.76, 40.47)
16:2293413		V>M	A:115	(-1.79, -10.75, 41.10)
16:2293391	rs202037059	R>H	A:122	(-3.52, -12.18, 31.99)
16:2293392	COSM968677	R>C	A:122	(-3.52, -12.18, 31.99)
16:2293382	rs553573557	A>V	A:125	(-0.70, -1.17, 28.85)
16:2293376		N>S	A:127	(3.93, 2.07, 28.61)
16:2293374		P>S	A:128	(7.21, 1.31, 27.10)
16:2293365		C>G	A:131	(7.47, -4.37, 32.03)
16:2293362	rs181584902	I>V	A:132	(5.22, -8.52, 32.76)
16:2293355	rs570485748	L>P	A:134	(8.79, -13.97, 37.23)
16:2293352		N>S	A:135	(12.44, -10.12, 38.29)
16:2293349		E>G	A:136	(12.61, -13.60, 40.98)
16:2293337		G>A	A:140	(19.35, -13.55, 43.65)
16:2293335	rs375350226	I>L	A:141	(16.03, -14.36, 44.45)
16:2293332	rs550641636	I>V	A:142	(14.44, -18.51, 43.31)
16:2293329	COSM3279299	A>T	A:143	(10.79, -18.50, 42.19)
16:2293209	rs200076790	E>K	A:152	(5.01, -24.13, 33.22)
16:2293197		G>R	A:156	(5.21, -22.79, 29.19)
16:2293191	rs371421985	R>W	A:158	(11.99, -22.63, 26.28)
16:2293187		A>V	A:159	(9.24, -19.88, 28.16)
16:2293178		R>H	A:162	(14.06, -16.89, 27.83)
16:2293179	rs376966589	R>C	A:162	(14.06, -16.89, 27.83)
16:2293166		L>P	A:166	(17.08, -14.39, 31.59)
16:2293167		L>M	A:166	(17.08, -14.39, 31.59)
16:2293158	rs137903135	L>F	A:169	(10.91, -7.59, 33.02)
16:2293151		P>L	A:171	(8.35, -5.70, 26.92)
16:2293148	rs138574813	P>L	A:172	(4.47, -4.74, 26.01)
16:2293145		A>V	A:173	(5.13, -7.01, 22.57)
16:2293137		L>M	A:176	(1.16, -10.42, 23.36)
16:2293107		P>A	A:186	(-4.13, 1.35, 23.99)
16:2293085		T>S	A:193	(-10.48, -3.99, 27.36)
16:2293082		A>V	A:194	(-11.68, -5.11, 31.12)
16:2293079		L>P	A:195	(-15.49, -3.49, 31.18)
16:2293073	rs552676077	A>V	A:197	(-13.72, -9.18, 29.25)
16:2293070		I>T	A:198	(-15.63, -9.11, 33.01)
16:2293060		W>C	A:201	(-14.04, -15.01, 31.17)
16:2290143		H>R	A:207	(-21.37, -24.62, 39.13)
16:2290144	rs144710828	H>N	A:207	(-21.37, -24.62, 39.13)
16:2290137	rs200865626	R>Q	A:209	(-16.81, -19.91, 35.76)
16:2290113		R>Q	A:217	(-6.30, -22.69, 38.26)
16:2290107		A>D	A:219	(-2.90, -29.53, 40.85)
16:2290096		R>C	A:223	(1.51, -28.83, 42.77)
16:2290086		T>M	A:226	(0.32, -30.44, 50.35)
16:2290080	rs199692587	R>H	A:228	(0.70, -23.02, 53.29)
16:2290081	rs140363778	R>C	A:228	(0.70, -23.02, 53.29)
16:2290078		D>N	A:229	(3.78, -25.58, 56.88)
16:2290071	rs200183052	D>G	A:231	(7.02, -22.96, 51.43)
16:2290072		D>N	A:231	(7.02, -22.96, 51.43)
16:2290069	rs142153290	V>M	A:232	(6.87, -21.13, 55.53)
16:2290057	rs201289256	V>I	A:236	(12.08, -18.69, 57.50)
16:2290053		S>I	A:237	(15.66, -20.46, 56.33)
16:2290038		D>V	A:242	(22.74, -13.48, 59.58)
16:2290030	COSM3507708	Q>E	A:245	(18.73, -10.23, 56.63)
16:2290026		K>M	A:246	(24.18, -7.97, 54.36)
16:2290016		Q>H	A:249	(20.57, -4.15, 53.97)