2XSX.B | ENO3 – ASTRID

2XSX.B | ENO3

General Structure Information

PDB ID	2xsx
HGNC Gene Label(s)	ENO3
Structure Name	crystal structure of human beta enolase enob
Resolution	1.7Å
Reference	AUTH M.VOLLMAR,E.KRYSZTOFINSKA,A.CHAIKUAD,T.KROJER,R.COCKING,AUTH 2 F.VON DELFT,C.BOUNTRA,C.H.ARROWSMITH,J.WEIGELT,A.EDWARDS,AUTH 3 W.W.YUE,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN BETA ENOLASE ENOBREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	434
Number Of SNVs	141
Number Of Permutations	24131
Optimal Distance Threshold	22.0
K Statistic	0.296
p-value	0.133

COSMIC

Number Of Residues	434
Number Of SNVs	4
Number Of Permutations	328
Optimal Distance Threshold	5.0
K Statistic	0.167
p-value	0.048

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	141
Number Of COSMIC SNVs	4
Optimal Distance Threshold	5.0
K Statistic	0.161
p-value	0.124

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:4855134		Q>E	B:4	(-14.55, -7.03, -33.52)
17:4855135	rs138211167	Q>P	B:4	(-14.55, -7.03, -33.52)
17:4855146	rs377482714	A>P	B:8	(-10.84, 4.99, -25.33)
17:4855149		R>W	B:9	(-14.16, 5.74, -22.37)
17:4855155		I>V	B:11	(-13.21, 7.60, -16.30)
17:4855156	rs371231613	I>N	B:11	(-13.21, 7.60, -16.30)
17:4855170	rs199949982	G>R	B:16	(-11.67, 13.15, -9.22)
17:4855174		N>S	B:17	(-8.62, 12.72, -10.52)
17:4855176		P>S	B:18	(-8.73, 12.06, -14.65)
17:4855188	rs148673221	V>M	B:22	(-10.37, 0.28, -22.51)
17:4855198		H>R	B:25	(-16.11, -4.53, -28.57)
17:4855203		A>T	B:27	(-18.03, -12.20, -30.53)
17:4855207		K>R	B:28	(-17.87, -14.17, -26.68)
17:4856093	rs267604959	R>Q	B:30	(-18.96, -4.00, -23.55)
17:4856096	rs367565420	F>Y	B:31	(-14.79, -7.88, -22.89)
17:4856099	rs376821730	R>Q	B:32	(-16.00, -1.48, -19.86)
17:4856110	rs141245336	P>S	B:36	(-5.06, 2.49, -11.57)
17:4856119	rs141103742	A>T	B:39	(3.39, 7.83, -11.97)
17:4856120		A>D	B:39	(3.39, 7.83, -11.97)
17:4856126		T>M	B:41	(7.32, 11.30, -12.54)
17:4856132	rs201114068	I>T	B:43	(13.98, 6.81, -12.26)
17:4856146		E>K	B:48	(0.97, 8.33, -15.23)
17:4856158		G>R	B:52	(-0.63, 19.49, -18.21)
17:4856163		D>E	B:53	(-4.04, 21.80, -19.19)
17:4856170	rs139073445	R>C	B:56	(-8.93, 19.35, -18.79)
17:4856171		R>H	B:56	(-8.93, 19.35, -18.79)
17:4856357		A>P	B:65	(-3.51, 8.42, -23.54)
17:4856369	rs543203167	I>L	B:69	(-5.58, 3.90, -27.28)
17:4856373	rs146408284	N>S	B:70	(-8.44, 5.87, -29.97)
17:4856375		N>D	B:71	(-5.05, 7.03, -33.13)
17:4856376	rs238238	N>S	B:71	(-5.05, 7.03, -33.13)
17:4856381	rs202207445	L>V	B:73	(-1.84, 1.04, -29.39)
17:4856390	rs143945974	A>P	B:76	(-1.83, -1.61, -34.51)
17:4856568		K>R	B:81	(-4.89, -10.50, -37.58)
17:4856571		L>P	B:82	(-2.61, -10.96, -32.24)
17:4856576	rs570595152	V>I	B:84	(-7.59, -12.51, -27.09)
17:4856580	rs238239	V>A	B:85	(-5.51, -15.69, -25.37)
17:4856602		K>N	B:92	(6.44, -9.15, -27.24)
17:4856624		T>S	B:100	(10.28, 2.95, -24.17)
17:4856625		T>S	B:100	(10.28, 2.95, -24.17)
17:4856627		E>K	B:101	(13.37, 0.75, -20.24)
17:4856632		N>K	B:102	(9.47, 4.39, -19.36)
17:4856633		K>E	B:103	(5.72, 1.57, -20.82)
17:4857010		K>R	B:105	(5.81, 6.31, -27.85)
17:4857018		A>T	B:108	(1.55, 3.10, -18.86)
17:4857022	rs143749502	N>S	B:109	(-1.88, 5.07, -18.78)
17:4857024		A>S	B:110	(-2.33, 3.06, -22.35)
17:4857025		A>V	B:110	(-2.33, 3.06, -22.35)
17:4857036		V>M	B:114	(-5.12, -2.50, -23.86)
17:4857046		A>G	B:117	(-9.15, -5.80, -21.87)
17:4857048		V>M	B:118	(-6.89, -8.40, -23.83)
17:4857074		K>N	B:126	(-9.87, -19.81, -22.55)
17:4857075		G>R	B:127	(-14.54, -20.25, -21.05)
17:4857079		V>D	B:128	(-12.48, -19.57, -18.45)
17:4857081		P>S	B:129	(-13.16, -18.00, -15.17)
17:4857090	rs151067614	R>C	B:132	(-8.61, -21.24, -13.68)
17:4857093	rs367929544	H>Y	B:133	(-6.74, -16.52, -18.59)
17:4857099		A>T	B:135	(-3.64, -19.26, -13.52)
17:4857103		D>A	B:136	(-4.05, -20.80, -17.04)
17:4857108	rs202030238	A>T	B:138	(0.92, -18.48, -14.09)
17:4857123		L>F	B:143	(-7.57, -21.20, -7.47)
17:4858377	rs560867570	N>S	B:151	(-5.90, 1.15, 5.85)
17:4858379		V>M	B:152	(-8.51, 0.97, 9.57)
17:4858386	rs538036202	N>S	B:154	(-5.07, 6.43, 8.13)
17:4858388		G>R	B:155	(-1.03, 8.38, 8.13)
17:4858398	rs372914640	H>R	B:158	(-0.73, 12.00, 1.68)
17:4858418		M>V	B:165	(4.00, 5.18, 11.01)
17:4858420		M>I	B:165	(4.00, 5.18, 11.01)
17:4858446	rs376914643	G>A	B:174	(-8.99, -16.91, 11.38)
17:4858449		A>V	B:175	(-11.12, -16.95, 9.13)
17:4858453		S>R	B:176	(-13.66, -19.88, 7.92)
17:4858463		E>K	B:180	(-17.08, -15.09, 7.93)
17:4858472		R>C	B:183	(-19.16, -11.39, 10.53)
17:4858473	COSM1679409	R>H	B:183	(-19.16, -11.39, 10.53)
17:4858475		I>V	B:184	(-14.15, -10.33, 11.17)
17:4858479	rs200324278	G>V	B:185	(-13.79, -6.41, 9.36)
17:4858481		A>T	B:186	(-16.71, -4.88, 9.28)
17:4858484		E>K	B:187	(-18.16, -6.90, 12.92)
17:4858488		V>A	B:188	(-13.41, -4.38, 13.70)
17:4858491	rs139079930	Y>C	B:189	(-14.66, 0.51, 9.81)
17:4858499		L>F	B:192	(-12.55, 1.79, 15.10)
17:4858504		K>N	B:193	(-17.11, 5.08, 13.37)
17:4858516		K>N	B:197	(-18.24, 9.32, 18.25)
17:4858526		G>R	B:201	(-15.01, 12.82, 18.41)
17:4858530		K>R	B:202	(-19.51, 14.17, 18.05)
17:4858538	rs553807266	T>A	B:205	(-15.76, 9.84, 12.03)
17:4858557		G>V	B:211	(-11.66, 4.48, 4.37)
17:4858569		P>H	B:215	(-7.09, 9.82, 14.32)
17:4858572		N>S	B:216	(-5.80, 14.24, 15.56)
17:4858720		T>M	B:229	(-9.72, -1.56, 21.35)
17:4858723		A>G	B:230	(-11.57, -2.95, 17.93)
17:4858731	rs373988255	A>T	B:233	(-15.05, -5.00, 20.76)
17:4858732	rs142982636	A>V	B:233	(-15.05, -5.00, 20.76)
17:4858750		K>R	B:239	(-10.20, -15.20, 14.66)
17:4858759		I>T	B:242	(-1.61, -6.01, 13.08)
17:4858761	rs201670239 COSM981061	G>S	B:243	(-0.37, -4.48, 9.57)
17:4858765	rs375776604	M>T	B:244	(2.58, -1.76, 9.97)
17:4858770	rs150174150	V>M	B:246	(6.21, 2.83, 7.80)
17:4858771	rs200479387	V>A	B:246	(6.21, 2.83, 7.80)
17:4858795		N>S	B:254	(20.22, 14.61, 6.89)
17:4858806	COSM981063	D>Y	B:258	(11.03, 12.72, 11.88)
17:4858808		D>E	B:258	(11.03, 12.72, 11.88)
17:4858822		S>L	B:263	(5.99, 18.91, 13.12)
17:4858839	rs144524946	R>W	B:269	(11.90, 15.67, 16.02)
17:4858840		R>Q	B:269	(11.90, 15.67, 16.02)
17:4858842	rs377257809	H>Y	B:270	(15.57, 13.55, 13.79)
17:4858843		H>P	B:270	(15.57, 13.55, 13.79)
17:4858863	rs199785068	G>R	B:277	(14.11, -1.24, 15.03)
17:4858866	rs370822982	E>K	B:278	(15.45, -0.87, 19.08)
17:4858873		Y>C	B:280	(9.98, -1.09, 13.49)
17:4858878		S>G	B:282	(8.24, -3.07, 20.42)
17:4858880		S>R	B:282	(8.24, -3.07, 20.42)
17:4858887	rs376782089	K>E	B:285	(7.22, -7.65, 22.88)
17:4859259		F>L	B:296	(14.14, 0.76, 7.35)
17:4859276		A>V	B:302	(22.11, -2.11, 5.19)
17:4859285		T>I	B:305	(19.96, -6.57, 5.29)
17:4859291	rs376564824	F>C	B:307	(14.91, -5.39, 10.92)
17:4859297	COSM3519103	S>L	B:309	(18.61, -10.96, 10.18)
17:4859305	rs145968147	N>H	B:312	(10.01, -14.10, 12.57)
17:4859333		T>I	B:321	(10.66, -2.73, -5.08)
17:4859345		P>L	B:325	(12.60, -5.87, -12.44)
17:4859365	rs61735456	V>I	B:332	(16.84, -11.00, -3.87)
17:4859372		K>R	B:334	(21.35, -6.52, -1.07)
17:4859375		K>R	B:335	(19.29, -11.65, 1.85)
17:4859378		A>V	B:336	(16.13, -6.68, 2.14)
17:4859401	COSM179025	V>I	B:344	(-0.36, -3.57, -12.09)
17:4859413		G>S	B:348	(2.08, -2.02, -17.45)
17:4859414		G>V	B:348	(2.08, -2.02, -17.45)
17:4859417		S>L	B:349	(1.80, -5.42, -18.13)
17:4859425		E>K	B:352	(5.63, -6.97, -17.32)
17:4859434	rs369177998	Q>K	B:355	(7.03, -12.01, -15.76)
17:4859871		C>W	B:357	(4.83, -12.89, -8.85)
17:4859884		S>A	B:362	(11.35, -18.26, -7.14)
17:4859893		W>G	B:365	(10.71, -12.09, -2.05)
17:4859905		V>M	B:369	(-2.04, -7.65, -4.50)
17:4859914		R>C	B:372	(-2.04, 2.89, -6.53)
17:4859915		R>H	B:372	(-2.04, 2.89, -6.53)
17:4859921	rs121918404	G>E	B:374	(-6.70, 5.72, -7.26)
17:4859923		E>K	B:375	(-8.75, 2.46, -7.52)
17:4859927		T>I	B:376	(-11.83, 2.25, -10.24)
17:4859932		D>N	B:378	(-11.79, -2.37, -12.03)
17:4859933		D>A	B:378	(-11.79, -2.37, -12.03)
17:4859960		G>E	B:387	(-4.45, -16.88, -9.63)
17:4859962		L>V	B:388	(-1.17, -14.94, -8.84)
17:4859966		C>S	B:389	(-1.97, -18.20, -5.41)
17:4859969		T>I	B:390	(-0.63, -14.49, -3.13)
17:4860131		K>N	B:394	(-2.95, -3.54, 0.25)
17:4860147	rs534374372	R>C	B:400	(-14.22, 5.11, -0.42)
17:4860148		R>H	B:400	(-14.22, 5.11, -0.42)
17:4860153	COSM706940	E>K	B:402	(-13.16, 2.54, -4.37)
17:4860157	rs561474067	R>H	B:403	(-11.21, 0.93, -2.17)
17:4860174		Q>E	B:409	(-15.52, -10.28, -7.41)
17:4860177		L>V	B:410	(-12.81, -11.81, -3.52)
17:4860283		A>S	B:416	(-18.26, -20.12, -7.56)
17:4860287	rs145298329	L>P	B:417	(-14.98, -21.96, -6.33)
17:4860295		K>E	B:420	(-13.77, -27.70, -4.45)
17:4860301		I>V	B:422	(-8.92, -23.08, -0.36)
17:4860313	rs202150244 COSM179026	R>C	B:426	(-3.66, -18.43, 11.02)
17:4860314		R>H	B:426	(-3.66, -18.43, 11.02)
17:4860317	rs561892631	K>R	B:427	(-0.90, -21.27, 5.20)
17:4860323		R>H	B:429	(4.46, -15.05, 5.29)

2XSX.B | ENO3.

2XSX.B | ENO3

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
17:4856580	COSM3736167	V>A	B:85	(-5.51, -15.69, -25.37)
17:4858465	COSM1610462	E>D	B:180	(-17.08, -15.09, 7.93)
17:4858473	COSM1679409	R>H	B:183	(-19.16, -11.39, 10.53)
17:4860277	COSM2149840	E>K	B:414	(-15.65, -18.02, -1.66)