2VZE.B | ACSM2A

General Structure Information

PDB ID	2vze
HGNC Gene Label(s)	ACSM2A
Structure Name	crystal structure of human acyl-coa synthetase medium-chain family member 2a (l64p mutation) in complex with amp
Resolution	2.45Å
Reference	AUTH G.KOCHAN,E.S.PILKA,F.V.DELFT,U.OPPERMANN,W.W.YUETITL STRUCTURAL SNAPSHOTS FOR THE CONFORMATION- DEPENDENTTITL 2 CATALYSIS BY HUMAN MEDIUM-CHAIN ACYL- COENZYME A SYNTHETASETITL 3 ACSM2A.REF J.MOL.BIOL. V. 388 997 2009REFN ISSN 0022-2836PMID 19345228DOI 10.1016/J.JMB.2009.03.064

Variant Set Distributions

ExAC Variants

Number Of Residues	533
Number Of SNVs	95
Number Of Permutations	17714
Optimal Distance Threshold	6.0
K Statistic	0.013
p-value	0.075

COSMIC

Number Of Residues	533
Number Of SNVs	18
Number Of Permutations	6680
Optimal Distance Threshold	22.0
K Statistic	0.19
p-value	0.272

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	95
Number Of COSMIC SNVs	15
Optimal Distance Threshold	15.0
K Statistic	-0.044
p-value	0.806

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:20471611	rs534659594	K>Q	B:59	(-32.47, -0.11, 1.88)
16:20476839		A>T	B:60	(-30.94, -1.39, -3.24)
16:20476840	rs142474503	A>V	B:60	(-30.94, -1.39, -3.24)
16:20476849	rs535873217 COSM1708847	R>Q	B:63	(-29.59, -10.01, -0.09)
16:20476852	rs7187246	L>P	B:64	(-33.33, -10.57, -1.36)
16:20476854	rs149499505	P>A	B:65	(-35.81, -9.55, 1.69)
16:20476893	rs34655000	E>K	B:78	(-42.41, -17.75, 15.95)
16:20476954		S>L	B:98	(-28.45, 8.12, 23.35)
16:20476959		A>T	B:100	(-33.87, 8.93, 26.45)
16:20476960	rs375377925	A>V	B:100	(-33.87, 8.93, 26.45)
16:20476963	rs540103440	C>Y	B:101	(-31.38, 7.42, 28.67)
16:20476974	rs13332099	R>C	B:105	(-18.01, 7.94, 22.59)
16:20476977		G>R	B:106	(-18.22, 5.09, 27.45)
16:20476989		A>T	B:110	(-25.47, -3.64, 32.23)
16:20476990	rs371502773	A>V	B:110	(-25.47, -3.64, 32.23)
16:20476992		V>L	B:111	(-26.76, -6.60, 29.74)
16:20476993		V>A	B:111	(-26.76, -6.60, 29.74)
16:20477029		I>N	B:123	(-25.61, -5.50, 22.33)
16:20480950		T>P	B:169	(-31.73, -5.51, 46.98)
16:20480956	rs371691663 COSM1660374	A>T	B:171	(-29.26, -0.07, 43.67)
16:20480964		E>D	B:173	(-25.16, -0.37, 47.97)
16:20480966		C>Y	B:174	(-24.89, 1.85, 43.17)
16:20480968	COSM3888072	P>S	B:175	(-23.22, 5.45, 43.33)
16:20480978	rs185396407	R>I	B:178	(-28.16, 8.02, 34.80)
16:20481005	rs376585853	S>I	B:187	(-44.51, -1.61, 34.23)
16:20481006		S>R	B:187	(-44.51, -1.61, 34.23)
16:20481007		C>G	B:188	(-41.78, -1.16, 37.45)
16:20481008		C>Y	B:188	(-41.78, -1.16, 37.45)
16:20481011		D>G	B:189	(-42.48, 1.57, 40.17)
16:20481014		G>A	B:190	(-37.95, 2.86, 38.66)
16:20481027	rs145878643	F>L	B:194	(-36.37, -1.25, 25.81)
16:20481037		L>I	B:198	(-37.87, 0.60, 20.99)
16:20482399		A>T	B:201	(-37.81, 5.65, 18.55)
16:20482400	rs376169319	A>G	B:201	(-37.81, 5.65, 18.55)
16:20482402	rs200518351	S>P	B:202	(-35.85, 7.02, 15.47)
16:20482420		V>M	B:208	(-20.36, 6.40, 16.84)
16:20482432	rs369585321	S>G	B:212	(-10.35, -0.14, 16.52)
16:20482505	rs142316126	S>L	B:236	(-11.47, -4.92, 16.68)
16:20482519		K>E	B:241	(-11.49, -12.16, 15.13)
16:20482522	rs200202580	A>T	B:242	(-15.57, -11.98, 13.23)
16:20482871		Q>K	B:252	(-22.86, -20.66, 3.43)
16:20482893		T>N	B:259	(-25.80, -20.27, 19.17)
16:20482895		I>V	B:260	(-27.09, -23.45, 22.29)
16:20482896		I>T	B:260	(-27.09, -23.45, 22.29)
16:20482897		I>M	B:260	(-27.09, -23.45, 22.29)
16:20482902		D>V	B:262	(-25.74, -17.68, 28.96)
16:20482908		G>D	B:264	(-23.06, -14.01, 29.28)
16:20482919		N>D	B:268	(-24.26, -14.99, 22.55)
16:20482927	rs147894332	L>F	B:270	(-18.12, -14.26, 19.02)
16:20482928	rs111621042	C>G	B:271	(-21.31, -17.23, 17.48)
16:20482956		G>A	B:280	(-26.00, -12.82, 6.07)
16:20482958		A>T	B:281	(-26.96, -15.02, 8.04)
16:20482971		V>A	B:285	(-33.07, -17.43, 19.32)
16:20482973	rs375879225	H>Y	B:286	(-35.79, -21.53, 21.84)
16:20482977		L>P	B:287	(-36.57, -18.50, 25.76)
16:20483006		L>V	B:297	(-34.43, -33.02, 19.46)
16:20486735	rs367739019 COSM1563210	R>W	B:316	(-22.41, -35.85, 27.19)
16:20486736	rs199633879	R>Q	B:316	(-22.41, -35.85, 27.19)
16:20486983	rs149334873	P>L	B:329	(-32.11, -33.94, 7.45)
16:20487000	rs4643305	V>I	B:335	(-19.79, -26.40, 16.08)
16:20487016		S>Y	B:340	(-13.46, -31.30, 26.34)
16:20487022		L>H	B:342	(-15.19, -36.71, 25.33)
16:20487030		T>A	B:345	(-19.43, -37.41, 22.26)
16:20487046		R>K	B:350	(-18.73, -39.41, 13.48)
16:20487048		A>S	B:351	(-23.52, -43.04, 14.68)
16:20487058	rs145974879	G>V	B:354	(-23.74, -38.54, 10.45)
16:20487079	COSM369913	Y>C	B:361	(-9.07, -23.27, 22.98)
16:20487088	rs373306567	T>R	B:364	(-13.21, -14.21, 27.54)
16:20489901		I>V	B:395	(5.00, -21.85, 25.89)
16:20489907	COSM3506960	D>Y	B:397	(9.78, -22.39, 32.16)
16:20489914		G>D	B:399	(8.76, -18.70, 26.52)
16:20489919	rs147314845	V>I	B:401	(8.39, -22.49, 21.02)
16:20489925	rs374997353	P>S	B:403	(8.38, -29.30, 20.47)
16:20489928		P>S	B:404	(6.04, -31.63, 18.40)
16:20489931	rs570810199	G>S	B:405	(4.96, -33.80, 22.11)
16:20489941		G>V	B:408	(2.52, -27.16, 28.03)
16:20489944		D>A	B:409	(1.93, -23.64, 29.01)
16:20489949	rs534821524	G>R	B:411	(-0.38, -19.62, 23.53)
16:20489983		I>N	B:422	(-6.31, -10.51, 21.84)
16:20489992		G>A	B:425	(-7.53, -6.04, 29.43)
16:20492161	rs75603553	S>L	B:476	(-13.03, -18.21, 45.78)
16:20492170	rs140251235	E>A	B:479	(-14.29, -21.44, 48.67)
16:20492171	rs149737523	E>D	B:479	(-14.29, -21.44, 48.67)
16:20492173		N>S	B:480	(-16.56, -16.95, 49.69)
16:20492186		E>D	B:484	(-22.00, -17.01, 53.91)
16:20492191		P>R	B:486	(-23.02, -22.00, 59.94)
16:20492206	rs369633543 COSM702482	T>M	B:491	(-14.00, -24.90, 52.05)
16:20492241	rs376973105	E>K	B:503	(-15.42, -30.62, 34.83)
16:20494380		V>L	B:504	(-18.31, -31.52, 38.46)
16:20494383	rs184553350	V>L	B:505	(-18.44, -28.29, 41.30)
16:20494389		A>T	B:507	(-16.88, -29.63, 48.00)
16:20494395	rs371186879	V>L	B:509	(-16.91, -29.56, 53.84)
16:20494399		V>A	B:510	(-14.48, -28.88, 57.53)
16:20494437		L>I	B:523	(-25.94, -31.12, 55.52)
16:20494444		K>R	B:525	(-29.26, -30.73, 50.05)
16:20494446	rs144620533	E>K	B:526	(-28.95, -27.24, 54.07)
16:20494457	rs138375901	Q>H	B:529	(-29.50, -24.51, 48.50)
16:20494458		H>Y	B:530	(-26.24, -21.35, 51.09)
16:20494462		V>E	B:531	(-24.61, -21.99, 47.02)
16:20494479		P>A	B:537	(-26.99, -21.55, 40.34)
16:20497915		L>P	B:550	(-8.60, -29.61, 54.13)
16:20497921	rs181555433	K>R	B:552	(-3.37, -27.52, 54.80)
16:20497924		T>S	B:553	(0.96, -25.87, 52.79)
16:20497932	COSM3420822	G>R	B:556	(-1.78, -23.47, 55.26)
16:20497937		K>N	B:557	(-2.46, -22.48, 52.06)
16:20497945	rs148142047	R>Q	B:560	(-7.34, -25.33, 45.84)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
16:20471558	COSM4578758	P>L	B:41	(-8.25, -0.31, 10.80)
16:20471588	COSM1157995	L>S	B:51	(-25.60, -5.11, 10.31)
16:20476983	COSM231697	R>C	B:108	(-18.41, 1.13, 32.15)
16:20480865	COSM3506952	M>I	B:140	(-26.76, -12.71, 38.41)
16:20480926	COSM3506953	D>N	B:161	(-39.06, -9.88, 34.81)
16:20480929	COSM1172312	E>K	B:162	(-35.86, -12.95, 35.19)
16:20480978	COSM349149	R>I	B:178	(-28.16, 8.02, 34.80)
16:20482505	COSM3506956	S>L	B:236	(-11.47, -4.92, 16.68)
16:20482538	COSM1318602	G>D	B:247	(-17.15, -19.49, 8.12)
16:20486717	COSM365071	G>S	B:310	(-22.30, -25.88, 21.60)
16:20486988	COSM968067	L>I	B:331	(-28.00, -30.49, 10.72)
16:20491904	COSM1181688	D>N	B:431	(-0.30, -5.75, 37.70)
16:20492000	COSM4128776	N>D	B:463	(-5.30, -22.88, 37.33)
16:20492206	COSM702482	T>M	B:491	(-14.00, -24.90, 52.05)
16:20494408	COSM3999763	S>L	B:513	(-18.79, -30.08, 66.12)
16:20494431	COSM702480	E>K	B:521	(-28.38, -37.67, 52.27)
16:20497945	COSM231699	R>Q	B:560	(-7.34, -25.33, 45.84)
16:20497957	COSM3506974	R>Q	B:564	(-6.96, -30.66, 40.99)

2VZE.B | ACSM2A.

2VZE.B | ACSM2A

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants