2AW5.B | ME1 – ASTRID

2AW5.B | ME1

General Structure Information

PDB ID	2aw5
HGNC Gene Label(s)	ME1
Structure Name	crystal structure of a human malic enzyme
Resolution	2.5Å
Reference	AUTH E.PAPAGRIGORIOU,G.BERRIDGE,C.SMEE,J.BRAY,AUTH 2 C.ARROWSMITH,A.EDWARDS,J.WEIGELT,M.SUNDSTROM,AUTH 3 U.OPPERMANN,O.GILEADI,F.VON DELFTTITL CRYSTAL STRUCTURE OF A HUMAN MALIC ENZYMEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	536
Number Of SNVs	150
Number Of Permutations	37916
Optimal Distance Threshold	6.0
K Statistic	0.008
p-value	0.261

COSMIC

Number Of Residues	536
Number Of SNVs	10
Number Of Permutations	8949
Optimal Distance Threshold	28.0
K Statistic	0.222
p-value	0.126

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	150
Number Of COSMIC SNVs	9
Optimal Distance Threshold	28.0
K Statistic	-0.151
p-value	0.389

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
6:84140621		L>Q	B:18	(10.21, 29.71, -5.01)
6:84140609		P>L	B:22	(12.60, 26.49, -12.52)
6:84140607		H>D	B:23	(9.00, 26.19, -13.80)
6:84140604		L>F	B:24	(7.95, 30.05, -10.07)
6:84140600		N>S	B:25	(13.22, 31.89, -9.85)
6:84117617		L>V	B:28	(17.70, 39.97, -9.01)
6:84117614		A>S	B:29	(12.97, 40.32, -10.41)
6:84117604		L>P	B:32	(10.66, 43.85, -2.07)
6:84117599	rs553218395	E>K	B:34	(7.51, 39.67, -5.00)
6:84117596	COSM1634953	R>G	B:35	(12.92, 39.91, -2.79)
6:84117589		Q>L	B:37	(5.67, 38.08, 0.88)
6:84117571		L>S	B:43	(17.87, 34.42, 0.19)
6:84117568		L>S	B:44	(18.45, 37.56, -3.31)
6:84117563		P>S	B:46	(20.57, 44.46, -2.61)
6:84117559		S>Y	B:47	(19.33, 44.33, -6.52)
6:84117542		I>V	B:53	(19.23, 44.46, -16.62)
6:84117527		V>I	B:58	(23.05, 36.45, -19.90)
6:84117512	rs138918145	E>K	B:63	(29.11, 37.63, -26.75)
6:84117501		N>K	B:66	(36.29, 30.76, -25.86)
6:84117502		N>T	B:66	(36.29, 30.76, -25.86)
6:84117503		N>Y	B:66	(36.29, 30.76, -25.86)
6:84117487		R>K	B:71	(28.61, 30.59, -26.08)
6:84108233		Y>C	B:72	(24.33, 23.73, -24.42)
6:84108231		L>F	B:73	(26.94, 24.62, -20.76)
6:84108228	rs145105900	L>F	B:74	(25.35, 29.96, -19.88)
6:84108209	rs141369691	D>G	B:80	(17.87, 24.17, -14.16)
6:84108200	rs151111787	E>V	B:83	(11.57, 28.37, -17.39)
6:84108198		K>E	B:84	(9.59, 32.96, -17.85)
6:84108188		Y>S	B:87	(12.23, 29.92, -22.93)
6:84108186		R>G	B:88	(13.35, 38.20, -22.89)
6:84108171	rs368880611	D>N	B:93	(18.30, 37.00, -31.14)
6:84108163		E>D	B:95	(19.02, 34.43, -36.36)
6:84108164		E>G	B:95	(19.02, 34.43, -36.36)
6:84108154	rs373981488	M>I	B:98	(18.12, 28.31, -33.14)
6:84108125		L>P	B:108	(29.33, 19.06, -29.35)
6:84108119		C>Y	B:110	(25.08, 14.80, -27.45)
6:84108106		S>R	B:114	(28.66, 11.56, -20.43)
6:84108107	rs189895509	S>T	B:114	(28.66, 11.56, -20.43)
6:84108095	rs367673348	R>Q	B:118	(26.47, 19.33, -15.32)
6:84108093		K>E	B:119	(21.19, 18.74, -14.71)
6:84108087		R>G	B:121	(17.69, 18.85, -18.12)
6:84061853	rs185058005	L>P	B:123	(11.83, 10.62, -18.60)
6:84061848		I>F	B:125	(12.37, 5.19, -20.78)
6:84061844		T>S	B:126	(15.29, 1.47, -20.06)
6:84061841		I>T	B:127	(15.08, -2.25, -22.38)
6:84061839		H>D	B:128	(16.56, -3.22, -18.60)
6:84061832		R>Q	B:130	(8.84, -4.53, -21.61)
6:84061818		S>P	B:135	(6.04, 3.65, -13.31)
6:84061805		A>E	B:139	(8.65, 10.42, -11.83)
6:84061785		K>E	B:146	(-0.60, 19.48, -23.90)
6:84056037	rs145219369	D>G	B:152	(16.63, 5.77, -30.27)
6:84056029	rs150790952	R>C	B:155	(19.42, 9.77, -37.42)
6:84056026	rs374166701	I>V	B:156	(22.17, 12.14, -33.54)
6:84056008		L>V	B:162	(25.22, 9.48, -29.61)
6:84056001		C>Y	B:164	(21.72, 7.96, -23.62)
6:84055991		M>I	B:167	(18.15, 13.61, -23.46)
6:84055984	rs149667356	P>A	B:170	(14.91, 15.96, -26.85)
6:84055951		G>R	B:181	(5.30, 28.39, -30.35)
6:84055948		G>R	B:182	(4.35, 28.56, -27.14)
6:84055944		M>K	B:183	(4.15, 24.88, -26.11)
6:84055939		P>S	B:185	(7.37, 24.78, -20.78)
6:84055935		Q>R	B:186	(5.34, 23.50, -16.93)
6:84055910		D>E	B:194	(18.54, 3.21, -23.39)
6:84055905		G>A	B:196	(21.37, 0.87, -26.50)
6:84025132		E>K	B:201	(33.50, 4.81, -27.65)
6:84025098		R>Q	B:212	(28.44, 0.01, -20.25)
6:84025099	rs141363376	R>W	B:212	(28.44, 0.01, -20.25)
6:84025093	rs537201826	R>G	B:214	(26.16, -3.81, -29.11)
6:84025054	COSM1214792	E>K	B:227	(4.93, -0.38, -22.97)
6:84025042		A>T	B:231	(1.75, 4.74, -21.47)
6:84025039	rs148600837	V>I	B:232	(2.24, 8.21, -23.07)
6:84025035	COSM3630183	S>Y	B:233	(-1.63, 7.48, -24.23)
6:83963455		Y>S	B:236	(0.74, 12.09, -19.94)
6:83963448	rs377092793	M>I	B:238	(-4.99, 9.75, -27.30)
6:83963450		M>V	B:238	(-4.99, 9.75, -27.30)
6:83963437		I>T	B:242	(3.94, 11.69, -29.71)
6:83963416	rs201444999	N>S	B:249	(15.52, 5.23, -41.38)
6:83963417		N>D	B:249	(15.52, 5.23, -41.38)
6:83963413		V>G	B:250	(14.10, 1.56, -41.34)
6:83963402	rs267601137 COSM1568240	R>C	B:254	(8.05, 1.53, -39.36)
6:83963383	rs142401926	R>Q	B:260	(0.34, 8.83, -39.31)
6:83963380		N>S	B:261	(-3.57, 6.12, -38.25)
6:83963371		C>F	B:264	(-0.91, 12.58, -31.73)
6:83949344		V>I	B:276	(10.09, 23.21, -45.34)
6:83949331		G>V	B:280	(9.56, 27.09, -51.05)
6:83949323	rs576075956	A>S	B:283	(7.52, 30.80, -52.84)
6:83949313	rs367778451	R>Q	B:286	(5.03, 34.65, -54.57)
6:83949307		T>I	B:288	(8.47, 31.60, -61.42)
6:83949295		L>P	B:292	(3.00, 23.30, -58.96)
6:83949293		S>T	B:293	(1.53, 22.19, -63.34)
6:83949290		D>N	B:294	(4.03, 24.59, -65.27)
6:83949285	rs2230901	Q>H	B:295	(7.27, 23.15, -62.35)
6:83949283		T>I	B:296	(9.92, 19.38, -64.06)
6:83949277	rs374822298	L>Q	B:298	(14.64, 16.89, -59.34)
6:83949268	rs539655823	G>A	B:301	(17.43, 11.63, -53.44)
6:83947533		A>E	B:310	(6.92, 14.04, -53.19)
6:83947534		A>S	B:310	(6.92, 14.04, -53.19)
6:83947501	rs7356975	G>S	B:321	(-6.38, 19.59, -60.52)
6:83947495	rs142932433	P>S	B:323	(-4.64, 13.78, -61.78)
6:83947486		K>E	B:326	(-0.31, 13.32, -64.02)
6:83947483	COSM1697584	A>T	B:327	(1.25, 14.33, -60.98)
6:83947479		I>T	B:328	(3.70, 11.68, -60.61)
6:83947469		I>M	B:331	(8.10, 14.02, -59.56)
6:83947464		L>R	B:333	(13.49, 10.37, -57.43)
6:83947458	rs150472584	D>A	B:335	(19.26, 6.30, -56.05)
6:83938632		Q>E	B:349	(8.21, 0.49, -52.84)
6:83938613	COSM3941853	A>V	B:355	(9.07, 4.37, -61.67)
6:83938610	rs140606062	H>R	B:356	(8.41, 7.38, -64.16)
6:83938604		H>P	B:358	(13.59, 5.29, -68.49)
6:83938577		I>T	B:367	(20.32, 12.73, -64.83)
6:83938578	rs374875808	I>V	B:367	(20.32, 12.73, -64.83)
6:83938553	COSM1082062	A>D	B:375	(13.42, 21.93, -59.89)
6:83938554		A>S	B:375	(13.42, 21.93, -59.89)
6:83938547		I>T	B:377	(15.30, 19.13, -54.41)
6:83937188		A>T	B:381	(24.18, 14.04, -47.63)
6:83937181		G>D	B:383	(28.52, 17.31, -51.04)
6:83937166		E>V	B:388	(29.19, 23.83, -62.24)
6:83937140		F>V	B:397	(17.89, 23.51, -69.27)
6:83937130	COSM197347	R>Q	B:400	(14.65, 33.25, -61.81)
6:83937131	rs146354044	R>W	B:400	(14.65, 33.25, -61.81)
6:83937101	rs377013777	T>A	B:410	(27.08, 23.78, -44.62)
6:83937082		S>F	B:416	(27.23, 27.41, -52.24)
6:83937067		Y>C	B:421	(22.98, 33.07, -55.66)
6:83937068		Y>H	B:421	(22.98, 33.07, -55.66)
6:83937061		I>T	B:423	(27.52, 29.34, -61.74)
6:83937058	COSM3630178 COSM1082059	T>I	B:424	(23.20, 31.08, -61.99)
6:83933651		G>E	B:426	(21.56, 35.36, -60.25)
6:83933648	COSM3875827	R>H	B:427	(19.63, 33.34, -63.95)
6:83933649	rs147687905	R>C	B:427	(19.63, 33.34, -63.95)
6:83933643	rs374707344	I>V	B:429	(15.19, 30.46, -57.27)
6:83933640	rs562718849	F>L	B:430	(19.63, 28.90, -52.82)
6:83933624		P>L	B:435	(22.84, 28.77, -42.56)
6:83933610		T>P	B:440	(26.99, 40.75, -53.00)
6:83933599	rs542582670	N>K	B:443	(24.21, 43.37, -60.15)
6:83933576	rs577071729	Q>P	B:451	(17.36, 28.45, -42.96)
6:83933570		N>I	B:453	(14.62, 25.48, -40.35)
6:83933567		N>I	B:454	(12.25, 21.71, -39.92)
6:83933558	rs375470975	V>G	B:457	(6.83, 23.40, -39.41)
6:83933559		V>M	B:457	(6.83, 23.40, -39.41)
6:83933552		P>R	B:459	(6.50, 25.04, -33.95)
6:83933537		G>D	B:464	(-2.74, 23.66, -33.16)
6:83933528		A>V	B:467	(-5.33, 23.86, -29.35)
6:83933517		R>G	B:471	(-7.45, 12.82, -32.54)
6:83933509	rs145472960	I>M	B:473	(-0.84, 14.86, -37.49)
6:83933492		L>P	B:479	(-0.20, 21.17, -47.87)
6:83926299		V>E	B:489	(6.99, 35.49, -48.10)
6:83926300	rs367907680	V>L	B:489	(6.99, 35.49, -48.10)
6:83926284	rs145569223	L>W	B:494	(10.28, 37.28, -52.95)
6:83926273		R>W	B:498	(14.89, 37.02, -47.98)
6:83926260	rs375254909	P>H	B:502	(12.17, 36.66, -41.77)
6:83926242		D>G	B:508	(3.64, 35.98, -36.02)
6:83926233		L>R	B:511	(0.00, 32.62, -34.67)
6:83926228		I>V	B:513	(0.80, 27.75, -39.01)
6:83921791		E>A	B:524	(-12.86, 20.36, -41.12)
6:83921779	rs149732997	T>K	B:528	(-11.65, 17.70, -29.61)
6:83921777		V>F	B:529	(-11.41, 21.82, -28.02)
6:83921764	COSM216767	P>L	B:533	(-13.51, 29.40, -30.26)
6:83921740	COSM169466	R>H	B:541	(-2.36, 35.65, -29.70)
6:83921741		R>C	B:541	(-2.36, 35.65, -29.70)
6:83921738	rs377364520	S>P	B:542	(-4.55, 31.95, -25.02)
6:83921733		Q>H	B:543	(-3.37, 28.55, -25.63)
6:83921734		Q>R	B:543	(-3.37, 28.55, -25.63)
6:83921730		M>I	B:544	(1.03, 31.70, -27.00)
6:83921731		M>R	B:544	(1.03, 31.70, -27.00)
6:83921732		M>V	B:544	(1.03, 31.70, -27.00)
6:83921728		Y>C	B:545	(5.68, 30.64, -22.08)
6:83921713		D>V	B:550	(3.78, 34.67, -13.78)
6:83921709		Q>H	B:551	(2.15, 37.71, -10.84)
6:83921699	rs143979349	D>N	B:555	(-5.17, 42.26, -6.88)

2AW5.B | ME1.

2AW5.B | ME1

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants