2IB9.A | ACAT1

General Structure Information

PDB ID	2ib9
HGNC Gene Label(s)	ACAT1
Structure Name	crystallographic and kinetic studies of human mitochondrial acetoacetyl-coa thiolase (t2): the importance of potassium and chloride for its structure and function
Resolution	2.05Å
Reference	AUTH A.M.HAAPALAINEN,G.MERILAINEN,P.L.PIRILA,N.KONDO,T.FUKAO,AUTH 2 R.K.WIERENGATITL CRYSTALLOGRAPHIC AND KINETIC STUDIES OF HUMAN MITOCHONDRIALTITL 2 ACETOACETYL-COA THIOLASE: THE IMPORTANCE OF POTASSIUM ANDTITL 3 CHLORIDE IONS FOR ITS STRUCTURE AND FUNCTIONREF BIOCHEMISTRY V. 46 4305 2007REFN ISSN 0006-2960PMID 17371050DOI 10.1021/BI6026192

Variant Set Distributions

ExAC Variants

Number Of Residues	391
Number Of SNVs	95
Number Of Permutations	58367
Optimal Distance Threshold	9.0
K Statistic	0.036
p-value	0.996

ClinVar

Number Of Residues	391
Number Of SNVs	10
Number Of Permutations	6682
Optimal Distance Threshold	23.0
K Statistic	0.733
p-value	0.094

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	95
Number Of ClinVar SNVs	10
Optimal Distance Threshold	20.0
K Statistic	0.22
p-value	0.209

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:108002674	rs142869776	T>I	A:38	(-40.11, 37.37, 29.52)
11:108002677		L>W	A:39	(-39.26, 40.61, 32.65)
11:108004565	rs115763401	A>T	A:47	(-48.46, 43.95, 54.50)
11:108004566	rs545826042	A>V	A:47	(-48.46, 43.95, 54.50)
11:108004578		P>H	A:51	(-46.05, 48.29, 66.69)
11:108004581	rs151080188	I>T	A:52	(-43.56, 52.39, 65.79)
11:108004583		G>R	A:53	(-41.49, 52.53, 69.35)
11:108004644		Q>P	A:73	(-45.00, 34.52, 61.85)
11:108004655		E>K	A:77	(-50.26, 34.34, 59.61)
11:108004662		A>G	A:79	(-51.02, 35.44, 52.78)
11:108004664		G>R	A:80	(-52.13, 32.11, 53.18)
11:108004953		P>S	A:82	(-47.27, 27.80, 53.14)
11:108004974		A>T	A:89	(-34.90, 36.92, 52.39)
11:108004996		Q>L	A:96	(-26.04, 45.61, 61.07)
11:108005031		V>I	A:108	(-36.03, 33.87, 58.78)
11:108005875		P>R	A:114	(-37.32, 27.06, 55.99)
11:108005890		C>Y	A:119	(-30.65, 35.31, 53.99)
11:108005896		T>I	A:121	(-28.82, 42.21, 55.42)
11:108005902		N>S	A:123	(-27.22, 49.56, 54.44)
11:108005928		A>P	A:132	(-35.45, 45.26, 49.81)
11:108005955		M>L	A:141	(-38.58, 40.90, 37.33)
11:108005956		M>T	A:141	(-38.58, 40.90, 37.33)
11:108005967	rs120074148	Q>E	A:145	(-36.66, 32.96, 43.57)
11:108009644		G>A	A:152	(-37.60, 45.90, 57.85)
11:108009650		E>A	A:154	(-33.69, 49.27, 63.09)
11:108009656		M>T	A:156	(-32.66, 53.01, 67.18)
11:108009661	rs148639841	N>D	A:158	(-30.90, 47.71, 71.66)
11:108009662	rs199524907 CM075965	N>S	A:158	(-30.90, 47.71, 71.66)
11:108009678		M>I	A:163	(-13.62, 50.93, 72.16)
11:108009691	rs577313004	T>A	A:168	(-5.33, 53.35, 75.40)
11:108009709		K>E	A:174	(-14.10, 59.21, 72.18)
11:108009711	rs146188525	K>N	A:174	(-14.10, 59.21, 72.18)
11:108009712		L>V	A:175	(-17.00, 55.32, 74.09)
11:108009717		E>D	A:176	(-18.04, 57.19, 69.10)
11:108009736	rs120074141	G>R	A:183	(-26.83, 57.30, 61.19)
11:108009767	rs541517496 CM112610 CM051376	M>R	A:193	(-29.24, 64.08, 58.71)
11:108010819	rs200498630	K>Q	A:203	(-30.87, 76.25, 49.27)
11:108010825		N>H	A:205	(-37.02, 80.22, 51.14)
11:108010835	rs370720208 COSM1350701 CM075969	R>Q	A:208	(-39.72, 77.21, 63.80)
11:108010837		N>D	A:209	(-43.88, 79.14, 60.52)
11:108010847		D>G	A:212	(-43.73, 73.97, 63.51)
11:108010849		A>T	A:213	(-47.52, 73.31, 60.72)
11:108010855		A>T	A:215	(-45.92, 68.70, 62.48)
11:108010861		N>D	A:217	(-50.59, 67.90, 59.74)
11:108010870	rs199573646	T>A	A:220	(-53.56, 65.70, 63.69)
11:108010881		K>N	A:223	(-54.69, 61.26, 67.35)
11:108010906		G>R	A:232	(-56.03, 46.75, 61.52)
11:108010921		P>T	A:237	(-50.24, 42.56, 68.02)
11:108010933		T>A	A:241	(-42.60, 38.17, 78.01)
11:108012371	rs370652435	K>T	A:257	(-49.61, 59.16, 72.26)
11:108012373	COSM1181554	R>C	A:258	(-43.97, 60.33, 73.60)
11:108012377		V>D	A:259	(-47.19, 66.09, 71.59)
11:108012385	rs563370385	S>R	A:262	(-48.28, 74.75, 73.32)
11:108012389		K>R	A:263	(-44.50, 73.24, 74.95)
11:108012391		V>F	A:264	(-44.13, 73.24, 69.02)
11:108012417	rs139120939	Q>H	A:272	(-29.09, 76.49, 63.29)
11:108013178	rs200640435	A>T	A:281	(-41.11, 68.28, 67.00)
11:108013179		A>V	A:281	(-41.11, 68.28, 67.00)
11:108013181		N>H	A:282	(-39.92, 69.81, 63.26)
11:108013218		V>A	A:294	(-45.44, 38.49, 50.72)
11:108013230		A>V	A:298	(-48.30, 36.36, 38.82)
11:108013236		A>E	A:300	(-47.46, 32.19, 41.99)
11:108013239	COSM4017592	A>V	A:301	(-50.43, 33.90, 42.79)
11:108013244	rs201180840	R>W	A:303	(-48.69, 27.94, 42.50)
11:108013251	rs562043215	N>S	A:305	(-55.32, 30.30, 44.23)
11:108013262		L>M	A:309	(-53.22, 43.57, 48.07)
11:108013265		A>S	A:310	(-50.70, 45.16, 44.66)
11:108013271		I>V	A:312	(-44.71, 46.34, 42.02)
11:108013272	rs120074146	I>T	A:312	(-44.71, 46.34, 42.02)
11:108013277		A>P	A:314	(-42.15, 51.13, 39.35)
11:108014716	rs371656619	A>V	A:316	(-36.06, 54.28, 41.55)
11:108014718		D>N	A:317	(-32.55, 54.46, 43.04)
11:108014737		I>T	A:323	(-25.98, 68.90, 52.09)
11:108014745		P>A	A:326	(-33.65, 66.77, 51.39)
11:108014754	rs375119115	P>T	A:329	(-36.96, 62.43, 46.93)
11:108014757		V>L	A:330	(-37.99, 65.19, 43.63)
11:108014758		V>A	A:330	(-37.99, 65.19, 43.63)
11:108014772	rs369440498	M>V	A:335	(-36.78, 58.46, 37.72)
11:108014773	rs559903915	M>T	A:335	(-36.78, 58.46, 37.72)
11:108016951	rs149171104	K>R	A:343	(-48.99, 63.26, 33.85)
11:108016956		E>K	A:345	(-51.83, 65.24, 38.08)
11:108016998		V>I	A:359	(-38.21, 66.63, 53.47)
11:108017021	rs559365204	M>I	A:366	(-39.42, 70.93, 43.92)
11:108017029		I>T	A:369	(-47.92, 67.89, 44.95)
11:108017047	rs373771053 CS083860	N>S	A:375	(-47.98, 61.88, 54.27)
11:108017065	COSM265950	V>A	A:381	(-42.65, 63.59, 62.50)
11:108017082		I>V	A:387	(-33.58, 54.04, 60.16)
11:108017086		G>A	A:388	(-34.91, 50.27, 58.23)
11:108018000	rs377295639	M>I	A:389	(-39.38, 50.02, 59.33)
11:108018005	rs371070695	G>A	A:391	(-39.70, 51.92, 53.57)
11:108018014		I>T	A:394	(-44.08, 53.97, 53.21)
11:108018022		H>N	A:397	(-50.39, 52.91, 54.66)
11:108018028		T>A	A:399	(-51.01, 48.10, 50.02)
11:108018031	rs201183545	H>Y	A:400	(-53.27, 47.82, 53.63)
11:108018032		H>R	A:400	(-53.27, 47.82, 53.63)
11:108018035		A>V	A:401	(-55.12, 52.72, 51.59)
11:108018049		E>Q	A:406	(-56.35, 54.41, 43.68)
11:108018050	rs147872303	E>G	A:406	(-56.35, 54.41, 43.68)
11:108018055	rs553101581	G>S	A:408	(-49.03, 54.92, 44.57)
11:108018062		A>V	A:410	(-43.26, 55.95, 47.56)
11:108018064		S>G	A:411	(-40.61, 58.65, 48.64)
11:108018080		G>E	A:416	(-25.62, 60.73, 51.14)
11:108018094		A>T	A:421	(-38.99, 55.15, 44.54)
11:108018108		Q>H	A:425	(-52.30, 49.78, 40.33)
11:108018112	rs201500937	L>M	A:427	(-55.52, 44.90, 42.56)

2IB9.A | ACAT1.

2IB9.A | ACAT1

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:108004629	rs794727475	G>V	A:68	(-38.91, 40.56, 62.32)
11:108004987	rs120074145	N>S	A:93	(-30.62, 46.48, 59.47)
11:108005967	rs120074148	Q>E	A:145	(-36.66, 32.96, 43.57)
11:108009644	rs762991875	G>A	A:152	(-37.60, 45.90, 57.85)
11:108009661	rs148639841	N>D	A:158	(-30.90, 47.71, 71.66)
11:108009662	rs199524907	N>S	A:158	(-30.90, 47.71, 71.66)
11:108009736	rs120074141	G>R	A:183	(-26.83, 57.30, 61.19)
11:108013272	rs120074146	I>T	A:312	(-44.71, 46.34, 42.02)
11:108014766	rs120074147	A>P	A:333	(-40.45, 60.33, 41.62)
11:108017059	rs120074143	G>V	A:379	(-45.62, 59.98, 59.96)
11:108017061	rs120074140	A>T	A:380	(-42.05, 59.93, 60.90)