2VIG.H | ACADS

General Structure Information

PDB ID	2vig
HGNC Gene Label(s)	ACADS
Structure Name	crystal structure of human short-chain acyl coa dehydrogenase
Resolution	1.9Å
Reference	AUTH A.C.W.PIKE,N.PANTIC,E.PARIZOTTO,O.GILEADI,AUTH 2 E.UGOCHUKWU,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN SHORT-CHAIN ACYL COATITL 2 DEHYDROGENASEREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	373
Number Of SNVs	120
Number Of Permutations	58428
Optimal Distance Threshold	16.0
K Statistic	0.208
p-value	0.016

ClinVar

Number Of Residues	373
Number Of SNVs	27
Number Of Permutations	23521
Optimal Distance Threshold	6.0
K Statistic	0.028
p-value	0.215

COSMIC

Number Of Residues	373
Number Of SNVs	6
Number Of Permutations	2917
Optimal Distance Threshold	6.0
K Statistic	0.067
p-value	0.681

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	120
Number Of ClinVar SNVs	27
Optimal Distance Threshold	6.0
K Statistic	0.015
p-value	0.728

Cosmic vs. ExAC

Number Of ExAC SNVs	120
Number Of COSMIC SNVs	6
Optimal Distance Threshold	6.0
K Statistic	0.053
p-value	0.797

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
12:121164899		Q>H	H:39	(-59.08, 4.18, 77.61)
12:121164904		L>W	H:41	(-58.66, 9.07, 80.98)
12:121164906	rs143948985	L>F	H:42	(-54.75, 6.36, 79.25)
12:121164918	rs121908003	R>W	H:46	(-49.70, 8.36, 77.39)
12:121164919		R>Q	H:46	(-49.70, 8.36, 77.39)
12:121164922		D>G	H:47	(-51.82, 12.92, 74.62)
12:121164943		F>S	H:54	(-42.32, 13.90, 79.09)
12:121164944		F>L	H:54	(-42.32, 13.90, 79.09)
12:121164946	rs147442301	P>L	H:55	(-41.30, 19.21, 77.85)
12:121164971	rs371096896	E>D	H:63	(-35.02, 25.88, 87.77)
12:121164981		P>A	H:67	(-45.71, 23.53, 87.78)
12:121164990		Q>E	H:70	(-48.20, 23.36, 83.44)
12:121174793	rs142476255	K>R	H:72	(-54.27, 25.84, 85.41)
12:121174796		K>M	H:73	(-53.20, 23.70, 81.10)
12:121174799		M>K	H:74	(-53.87, 19.55, 85.23)
12:121174804		G>R	H:76	(-59.49, 22.04, 83.44)
12:121174810		G>R	H:78	(-60.10, 17.50, 86.24)
12:121174822		M>L	H:82	(-60.56, 12.94, 89.03)
12:121174828		V>M	H:84	(-65.16, 15.71, 92.93)
12:121174834	rs374930037 CM085209	E>K	H:86	(-70.22, 16.82, 87.66)
12:121174846	rs121908005	G>S	H:90	(-65.97, 17.94, 89.16)
12:121174862	rs369400082	Y>C	H:95	(-59.60, 7.16, 93.85)
12:121174868		A>V	H:97	(-59.34, 7.18, 86.99)
12:121174876		I>V	H:100	(-55.41, 5.53, 85.01)
12:121174882		M>V	H:102	(-51.48, 10.08, 89.21)
12:121174897	rs61732144	R>C	H:107	(-44.79, 8.42, 81.52)
12:121174898		R>H	H:107	(-44.79, 8.42, 81.52)
12:121174900	rs117356004	G>S	H:108	(-43.78, 13.18, 83.07)
12:121174906		A>T	H:110	(-43.22, 13.67, 89.65)
12:121174910		S>F	H:111	(-43.68, 17.08, 90.90)
12:121174915	COSM3457071	G>R	H:113	(-48.22, 14.45, 90.76)
12:121174919		V>A	H:114	(-47.19, 15.23, 94.34)
12:121174926	rs533993124	M>I	H:116	(-52.74, 15.48, 90.97)
12:121174937		N>S	H:120	(-57.22, 14.76, 94.31)
12:121175160	rs372873554 COSM1244064	S>C	H:121	(-56.40, 12.53, 98.16)
12:121175171		G>R	H:125	(-61.27, 14.10, 100.52)
12:121175175		P>H	H:126	(-61.08, 15.01, 103.57)
12:121175192		S>A	H:132	(-70.66, 20.42, 105.51)
12:121175211	rs17848085	A>V	H:138	(-66.17, 26.82, 100.53)
12:121175220		T>M	H:141	(-65.92, 24.45, 94.48)
12:121175222	rs375450502	P>S	H:142	(-62.95, 26.89, 95.23)
12:121175229		T>I	H:144	(-62.19, 22.16, 91.42)
12:121175235		G>D	H:146	(-56.39, 25.54, 89.30)
12:121175244		I>T	H:149	(-53.85, 24.26, 95.33)
12:121175258	rs368500899	L>F	H:154	(-50.50, 15.16, 110.21)
12:121175648		S>G	H:161	(-44.62, 7.96, 111.86)
12:121175661		A>V	H:165	(-48.01, 13.14, 118.67)
12:121175669		T>A	H:168	(-50.37, 21.49, 117.23)
12:121175670		T>N	H:168	(-50.37, 21.49, 117.23)
12:121175672		T>P	H:169	(-52.68, 23.44, 120.11)
12:121175676	rs542838805	A>V	H:170	(-56.83, 23.81, 119.55)
12:121175678	rs1800556	R>W	H:171	(-57.59, 28.56, 122.81)
12:121175684	COSM396889	E>K	H:173	(-62.14, 30.94, 121.83)
12:121175696	rs57443665	W>R	H:177	(-61.56, 26.13, 117.44)
12:121175742	rs28940874	A>V	H:192	(-51.66, 26.89, 99.18)
12:121175745	rs369167716	S>L	H:193	(-55.17, 28.65, 99.41)
12:121175753		V>M	H:196	(-56.40, 19.95, 106.29)
12:121175757		V>G	H:197	(-54.76, 21.50, 110.17)
12:121175763		A>V	H:199	(-54.82, 19.50, 116.39)
12:121175769	rs151059234	T>M	H:201	(-58.39, 19.37, 121.14)
12:121176083	rs1799958	G>S	H:209	(-57.25, 14.45, 121.01)
12:121176093		A>D	H:212	(-59.76, 18.73, 111.89)
12:121176104		P>S	H:216	(-57.19, 29.97, 105.67)
12:121176113	rs144815059	T>S	H:219	(-53.89, 33.67, 107.95)
12:121176114	rs148588313	T>M	H:219	(-53.89, 33.67, 107.95)
12:121176119		G>R	H:221	(-50.65, 33.38, 112.38)
12:121176126	rs143131689	T>M	H:223	(-45.56, 31.86, 109.14)
12:121176140		E>K	H:228	(-37.22, 21.76, 102.76)
12:121176141		E>A	H:228	(-37.22, 21.76, 102.76)
12:121176156		I>T	H:233	(-40.39, 15.78, 94.43)
12:121176159		R>Q	H:234	(-35.49, 19.01, 93.06)
12:121176161		G>R	H:235	(-41.57, 21.33, 92.32)
12:121176165		S>L	H:236	(-42.83, 20.29, 95.15)
12:121176171		T>M	H:238	(-41.83, 21.17, 101.18)
12:121176188	rs551883820	E>K	H:244	(-47.83, 33.12, 116.80)
12:121176197	COSM1181516	R>C	H:247	(-58.62, 33.88, 116.39)
12:121176209		D>N	H:251	(-67.40, 26.95, 111.06)
12:121176233		M>V	H:259	(-63.42, 12.76, 114.06)
12:121176236		G>C	H:260	(-58.80, 13.35, 113.52)
12:121176336		Q>E	H:266	(-60.39, 7.19, 106.86)
12:121176339		T>A	H:267	(-57.00, 10.74, 104.16)
12:121176348	rs370283455	M>V	H:270	(-57.72, 8.15, 100.03)
12:121176354	rs539219309 COSM2175392	R>C	H:272	(-51.30, 5.05, 101.93)
12:121176355	rs374726386 COSM1706375 CM067633	R>H	H:272	(-51.30, 5.05, 101.93)
12:121176357		I>V	H:273	(-54.28, 4.68, 96.00)
12:121176360	rs139178751	G>S	H:274	(-51.57, 7.88, 94.64)
12:121176361		G>D	H:274	(-51.57, 7.88, 94.64)
12:121176366	rs199717731 COSM691767 CM085210	A>T	H:276	(-48.81, 4.20, 93.99)
12:121176370		S>Y	H:277	(-49.96, 5.82, 90.97)
12:121176376		A>V	H:279	(-44.66, 5.08, 91.48)
12:121176388	COSM3739469	A>V	H:283	(-41.45, 3.08, 86.89)
12:121176391		Q>R	H:284	(-43.62, 2.69, 82.78)
12:121176396	COSM4039420	A>T	H:286	(-37.68, 4.06, 83.77)
12:121176402	rs567335248 COSM301616	D>N	H:288	(-40.03, 3.46, 78.89)
12:121176408		A>P	H:290	(-34.08, 1.24, 79.42)
12:121176420		A>T	H:294	(-30.99, -1.35, 75.16)
12:121176429		R>C	H:297	(-24.81, 1.45, 73.78)
12:121176441		G>R	H:301	(-21.81, -6.63, 68.48)
12:121176469		I>T	H:310	(-29.78, -6.63, 79.91)
12:121176628		K>N	H:313	(-31.49, -6.33, 84.55)
12:121176641		A>S	H:318	(-41.99, -5.71, 84.25)
12:121176647		A>S	H:320	(-42.58, -5.27, 89.43)
12:121176660		A>V	H:324	(-47.93, -2.94, 91.38)
12:121176662	rs121908006	R>W	H:325	(-49.94, -1.28, 86.94)
12:121176683		A>T	H:332	(-59.27, 1.44, 93.56)
12:121176702		K>R	H:338	(-67.57, 0.52, 99.27)
12:121176714		I>T	H:342	(-56.87, -0.23, 105.04)
12:121176944	rs387906950 CM085212	E>G	H:344	(-56.03, -3.82, 100.17)
12:121176946	rs545598561	A>S	H:345	(-53.41, 0.47, 99.95)
12:121176965		A>V	H:351	(-45.06, -2.23, 95.92)
12:121176971	rs28941773	S>L	H:353	(-42.24, 2.23, 96.33)
12:121176977		A>V	H:355	(-40.40, -0.74, 92.24)
12:121176985		A>S	H:358	(-35.60, -0.96, 91.65)
12:121176991	rs528266975	S>G	H:360	(-34.60, 3.48, 89.02)
12:121177107	rs368469075 CM032172	Q>H	H:365	(-26.48, -0.32, 86.02)
12:121177117	rs145466253	G>S	H:369	(-22.89, 6.55, 82.50)
12:121177118		G>D	H:369	(-22.89, 6.55, 82.50)
12:121177120	rs566325901 CM085207	M>V	H:370	(-25.44, 8.24, 79.88)
12:121177129	rs371934737	V>M	H:373	(-25.50, 12.11, 83.48)
12:121177142	rs183161718	P>L	H:377	(-33.74, 10.72, 82.43)
12:121177151	rs368064268	R>Q	H:380	(-35.69, 13.07, 86.60)
12:121177159	rs28940872	R>C	H:383	(-33.21, 12.56, 91.98)
12:121177165	rs202124189	A>S	H:385	(-38.46, 7.26, 93.74)
12:121177168	rs537072819 COSM238654 CM068221	R>C	H:386	(-35.98, 6.98, 98.51)
12:121177169		R>H	H:386	(-35.98, 6.98, 98.51)
12:121177181		I>N	H:390	(-40.48, 8.32, 102.92)
12:121177184		Y>C	H:391	(-44.49, 10.79, 100.08)
12:121177219	rs556890619	A>T	H:403	(-49.76, -7.12, 109.75)
12:121177225		H>Y	H:405	(-55.52, -4.91, 108.66)
12:121177244		R>Q	H:411	(-56.93, -12.19, 115.34)

2VIG.H | ACADS.

2VIG.H | ACADS

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
12:121164928	COSM357504	A>V	H:49	(-47.69, 14.42, 79.26)
12:121174929	COSM3980826	S>R	H:117	(-52.15, 13.52, 94.97)
12:121175684	COSM396889	E>K	H:173	(-62.14, 30.94, 121.83)
12:121176083	COSM3752964	G>S	H:209	(-57.25, 14.45, 121.01)
12:121176360	COSM935962	G>S	H:274	(-51.57, 7.88, 94.64)
12:121176677	COSM935963	R>C	H:330	(-56.51, -5.26, 95.27)
12:121176678	COSM467904	R>H	H:330	(-56.51, -5.26, 95.27)