2VX2.D | ECHDC3

General Structure Information

PDB ID	2vx2
HGNC Gene Label(s)	ECHDC3
Structure Name	crystal structure of human enoyl coenzyme a hydratase domain-containing protein 3 (echdc3)
Resolution	2.3Å
Reference	AUTH W.W.YUE,K.GUO,G.KOCHAN,E.PILKA,J.W.MURRAY,E.SALAH,R.COCKING,AUTH 2 Z.SUN,A.K.ROOS,A.C.W.PIKE,P.FILIPPAKOPOULOS,C.ARROWSMITH,AUTH 3 M.WIKSTROM,A.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN ENOYL COENZYME A HYDRATASETITL 2 DOMAIN-CONTAINING PROTEIN 3 (ECHDC3)REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	256
Number Of SNVs	82
Number Of Permutations	20784
Optimal Distance Threshold	9.0
K Statistic	0.046
p-value	0.981

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
10:11789353		I>T	D:59	(107.87, 91.91, 26.14)
10:11789354	COSM274932	I>M	D:59	(107.87, 91.91, 26.14)
10:11789355	rs144131442	V>I	D:60	(109.88, 94.70, 29.52)
10:11789365	rs34889349	N>S	D:63	(112.48, 104.27, 29.10)
10:11789370		K>E	D:65	(112.76, 108.09, 32.64)
10:11789382	rs4750090	A>T	D:69	(106.92, 106.94, 26.11)
10:11789389		S>L	D:71	(108.01, 106.29, 21.16)
10:11789395	rs374812421	A>G	D:73	(111.23, 103.84, 19.04)
10:11789397	rs201684812	M>V	D:74	(109.07, 101.96, 22.67)
10:11789407		S>Y	D:77	(111.03, 97.68, 19.96)
10:11789415		S>G	D:80	(110.47, 93.29, 17.06)
10:11789419		D>V	D:81	(110.23, 92.05, 20.91)
10:11789433	rs544702970 COSM1582050	A>T	D:86	(105.94, 83.90, 16.05)
10:11789437		D>G	D:87	(105.35, 81.05, 13.65)
10:11789440		S>T	D:88	(108.01, 79.05, 17.37)
10:11789445	rs545459666	D>Y	D:90	(109.19, 76.72, 21.10)
10:11789461		I>S	D:95	(103.93, 88.53, 29.67)
10:11789466		S>A	D:97	(105.81, 94.27, 31.34)
10:11789467	rs149884607	S>L	D:97	(105.81, 94.27, 31.34)
10:11791500	rs552383167	G>E	D:100	(107.92, 100.94, 37.05)
10:11791502		P>S	D:101	(105.83, 103.66, 38.38)
10:11791520		H>Y	D:107	(101.88, 108.25, 21.94)
10:11791521		H>R	D:107	(101.88, 108.25, 21.94)
10:11791523	rs201207580	D>Y	D:108	(106.73, 111.69, 22.94)
10:11791526		L>V	D:109	(103.37, 114.91, 23.55)
10:11791539		T>R	D:113	(105.27, 118.99, 17.42)
10:11791553	rs141101500	R>C	D:118	(99.72, 115.88, 8.78)
10:11791560		Y>F	D:120	(107.18, 111.43, 12.88)
10:11791563		H>R	D:121	(102.25, 113.83, 13.51)
10:11791568	rs192975215	E>K	D:123	(105.36, 106.93, 11.30)
10:11791570		E>D	D:123	(105.36, 106.93, 11.30)
10:11791581		T>I	D:127	(103.33, 102.15, 14.30)
10:11797407		V>I	D:131	(101.35, 97.05, 17.58)
10:11797416		H>N	D:134	(100.89, 92.77, 14.58)
10:11797418		H>Q	D:134	(100.89, 92.77, 14.58)
10:11797422		R>W	D:136	(92.62, 91.28, 17.34)
10:11797423	rs144927894	R>Q	D:136	(92.62, 91.28, 17.34)
10:11797434	rs373480689 COSM145355	V>I	D:140	(100.29, 83.51, 20.84)
10:11797440		V>I	D:142	(98.97, 88.76, 24.59)
10:11797446		A>T	D:144	(98.95, 92.49, 30.49)
10:11797449		M>V	D:145	(102.04, 92.45, 34.39)
10:11797450	rs376561707	M>T	D:145	(102.04, 92.45, 34.39)
10:11797451	rs148878756	M>I	D:145	(102.04, 92.45, 34.39)
10:11797455	rs370353671	N>D	D:147	(102.68, 97.65, 38.81)
10:11797467	rs7910140	A>T	D:151	(97.95, 106.90, 30.42)
10:11797468		A>V	D:151	(97.95, 106.90, 30.42)
10:11797473		A>T	D:153	(98.43, 104.60, 24.61)
10:11797476	rs375815859	G>S	D:154	(98.80, 102.68, 27.47)
10:11797477		G>A	D:154	(98.80, 102.68, 27.47)
10:11797500	rs35986488	D>N	D:162	(94.09, 88.66, 24.71)
10:11797509	rs201352428	V>M	D:165	(96.81, 91.10, 35.28)
10:11797518	rs202096816	D>N	D:168	(95.45, 96.89, 44.16)
10:11797524		S>A	D:170	(96.77, 100.13, 39.11)
10:11797533		A>T	D:173	(93.63, 107.01, 31.61)
10:11797540		P>R	D:175	(94.37, 112.04, 29.50)
10:11797551	rs148857269	V>I	D:179	(97.11, 117.90, 25.88)
10:11797554	rs144481528	G>R	D:180	(94.40, 118.73, 22.86)
10:11797567	rs371141521	S>F	D:184	(90.56, 108.88, 19.46)
10:11797585	rs148433815	L>W	D:190	(88.09, 102.09, 26.10)
10:11797587	rs370058473	A>S	D:191	(84.88, 100.73, 23.32)
10:11797593		A>T	D:193	(86.15, 97.10, 27.29)
10:11797600		P>L	D:195	(80.79, 100.51, 29.31)
10:11797605		K>E	D:197	(77.59, 105.84, 29.91)
10:11805223		V>L	D:198	(82.90, 104.26, 31.42)
10:11805224		V>A	D:198	(82.90, 104.26, 31.42)
10:11805226		A>P	D:199	(84.34, 105.62, 27.99)
10:11805231		L>F	D:200	(82.32, 108.86, 26.79)
10:11805245		T>I	D:205	(86.97, 113.91, 32.08)
10:11805247		G>C	D:206	(90.60, 112.42, 32.13)
10:11805250		E>K	D:207	(89.66, 112.13, 35.57)
10:11805251		E>G	D:207	(89.66, 112.13, 35.57)
10:11805263	rs557647344	A>V	D:211	(91.58, 98.58, 39.15)
10:11805278		L>P	D:216	(83.31, 96.24, 37.61)
10:11805289		L>I	D:220	(91.31, 94.55, 33.99)
10:11805298	rs375091889	V>M	D:223	(92.83, 92.78, 40.45)
10:11805302		V>A	D:224	(96.11, 91.14, 42.45)
10:11805311	rs145937779	A>V	D:227	(102.64, 90.73, 46.00)
10:11805334	rs199630653	R>W	D:235	(97.14, 81.40, 37.15)
10:11805335	rs201922599	R>Q	D:235	(97.14, 81.40, 37.15)
10:11805340	rs370160156	A>T	D:237	(101.13, 81.66, 31.34)
10:11805352		A>T	D:241	(102.11, 76.72, 28.05)
10:11805364		R>C	D:245	(101.23, 77.22, 19.35)
10:11805365		R>H	D:245	(101.23, 77.22, 19.35)
10:11805385		K>Q	D:252	(93.60, 84.22, 19.36)
10:11805392		T>I	D:254	(87.96, 81.33, 15.70)
10:11805406		L>V	D:259	(83.47, 88.85, 17.92)
10:11805410		P>L	D:260	(82.17, 90.45, 14.13)
10:11805418	rs201032202	L>V	D:263	(74.38, 84.09, 15.98)
10:11805425	rs138286174	T>M	D:265	(78.05, 83.37, 10.38)
10:11805436		L>I	D:269	(82.78, 80.45, 11.30)
10:11805440		T>N	D:270	(82.60, 78.15, 15.44)
10:11805443		S>C	D:271	(81.23, 74.52, 13.77)
10:11805461		N>S	D:277	(90.14, 71.18, 17.01)
10:11805478	rs372509851	G>R	D:283	(92.44, 66.59, 19.82)
10:11805487	rs147137710	G>S	D:286	(92.72, 64.97, 24.80)
10:11805494	rs150874466	T>M	D:288	(92.43, 59.74, 24.30)