2B3Y.B | ACO1 – ASTRID

2B3Y.B | ACO1

General Structure Information

PDB ID	2b3y
HGNC Gene Label(s)	ACO1
Structure Name	structure of a monoclinic crystal form of human cytosolic aconitase (irp1)
Resolution	1.85Å
Reference	AUTH J.DUPUY,A.VOLBEDA,P.CARPENTIER,C.DARNAULT,J.M.MOULIS,AUTH 2 J.C.FONTECILLA-CAMPSTITL CRYSTAL STRUCTURE OF HUMAN IRON REGULATORY PROTEIN 1 ASTITL 2 CYTOSOLIC ACONITASEREF STRUCTURE V. 14 129 2006REFN ISSN 0969-2126PMID 16407072DOI 10.1016/J.STR.2005.09.009

Variant Set Distributions

ExAC Variants

Number Of Residues	888
Number Of SNVs	226
Number Of Permutations	79302
Optimal Distance Threshold	11.0
K Statistic	0.029
p-value	0.651

COSMIC

Number Of Residues	888
Number Of SNVs	4
Number Of Permutations	39
Optimal Distance Threshold	15.0
K Statistic	0.167
p-value	0.73

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	226
Number Of COSMIC SNVs	7
Optimal Distance Threshold	35.0
K Statistic	0.303
p-value	0.23

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:32405509		S>N	B:2	(35.68, -0.91, 48.44)
9:32405523		H>N	B:7	(46.93, -0.95, 50.94)
9:32405561	rs376599072	K>N	B:19	(50.30, 4.75, 35.09)
9:32405562		K>E	B:20	(48.91, 3.58, 40.02)
9:32405567	rs560315574 COSM1108080 COSM1108082	F>L	B:21	(52.11, -1.65, 41.16)
9:32405577		N>D	B:25	(56.09, -7.30, 47.50)
9:32405578		N>S	B:25	(56.09, -7.30, 47.50)
9:32405589	rs41313772	D>Y	B:29	(53.02, -12.86, 53.27)
9:32405592		S>A	B:30	(56.40, -15.32, 53.38)
9:32405596		R>T	B:31	(51.79, -17.13, 52.56)
9:32407261		R>C	B:34	(57.09, -20.11, 49.75)
9:32407262	rs369961548	R>H	B:34	(57.09, -20.11, 49.75)
9:32407274	rs537741206 COSM3656805 COSM3656807 COSM3656806	S>L	B:38	(50.93, -19.69, 38.18)
9:32407303	rs372499240	R>W	B:48	(43.04, -6.17, 39.61)
9:32407304	rs200054852	R>Q	B:48	(43.04, -6.17, 39.61)
9:32407310	rs189645733	C>S	B:50	(38.35, -7.22, 45.75)
9:32407312		D>H	B:51	(34.08, -6.79, 45.21)
9:32407313		D>G	B:51	(34.08, -6.79, 45.21)
9:32407324	rs146631763	V>M	B:55	(36.28, -11.18, 44.64)
9:32407335		Q>H	B:58	(39.01, -15.85, 52.79)
9:32407339		I>F	B:60	(42.88, -12.94, 48.49)
9:32407340		I>T	B:60	(42.88, -12.94, 48.49)
9:32407361		N>S	B:67	(51.57, -25.04, 50.13)
9:32407367	rs139224341	T>M	B:69	(44.59, -24.37, 50.13)
9:32407374		H>Q	B:71	(46.44, -30.33, 49.50)
9:32407382	rs369355555	I>T	B:74	(39.47, -24.36, 48.28)
9:32407393		F>L	B:78	(41.02, -16.06, 36.97)
9:32407406	rs143245103	R>H	B:82	(43.41, -11.49, 26.58)
9:32407427		T>M	B:89	(34.68, -21.43, 18.38)
9:32408522	COSM753667 COSM753668	A>T	B:93	(29.56, -17.39, 20.15)
9:32408529	rs142930707	V>A	B:95	(24.81, -17.47, 17.79)
9:32408531		D>N	B:96	(25.34, -18.19, 21.93)
9:32408544		M>T	B:100	(22.09, -14.28, 25.51)
9:32408546		R>C	B:101	(21.81, -8.86, 22.45)
9:32408552		A>T	B:103	(16.21, -13.59, 26.01)
9:32408573		D>Y	B:110	(19.38, -3.92, 28.21)
9:32408585		I>V	B:114	(24.50, -9.19, 26.12)
9:32408590		N>K	B:115	(28.10, -6.28, 25.36)
9:32408591	rs536277060	P>A	B:116	(31.84, -7.79, 25.55)
9:32408601		P>L	B:119	(39.45, -7.52, 25.70)
9:32408609		L>V	B:122	(38.10, -13.47, 16.17)
9:32408612	rs41304757	V>I	B:123	(41.72, -15.36, 14.41)
9:32408632	rs202186814	Q>H	B:129	(39.99, -26.18, 2.77)
9:32408643	rs561752787	N>S	B:133	(49.24, -28.61, -3.65)
9:32418127	rs375356805	A>T	B:136	(52.47, -20.26, -6.76)
9:32418130	rs148577484	D>N	B:137	(48.58, -20.50, -8.01)
9:32418142		K>E	B:141	(43.67, -21.46, -6.52)
9:32418188		F>C	B:156	(27.33, -13.79, 12.08)
9:32418348		N>S	B:166	(35.42, -4.77, 23.48)
9:32418353	rs41305321	R>W	B:168	(41.21, -6.97, 17.62)
9:32418354	COSM1636150 COSM1636151	R>Q	B:168	(41.21, -6.97, 17.62)
9:32418360	rs544613435	I>T	B:170	(42.42, -10.91, 12.78)
9:32418363		P>L	B:171	(41.51, -10.88, 8.81)
9:32418369		G>D	B:173	(45.21, -14.48, 5.77)
9:32418377		I>V	B:176	(47.32, -19.61, 13.10)
9:32418416	rs371287650	V>L	B:189	(51.72, -6.04, 30.93)
9:32418425	COSM1701017 COSM1701018	Q>E	B:192	(43.29, -0.29, 31.13)
9:32418430		D>E	B:193	(41.88, 2.94, 33.28)
9:32418444		P>L	B:198	(49.03, -9.39, 34.60)
9:32418473	rs61753543	T>A	B:208	(45.08, -21.00, 24.30)
9:32418483		I>T	B:211	(50.42, -17.71, 25.45)
9:32418489		G>A	B:213	(55.58, -19.44, 26.90)
9:32418497	rs201517506	I>V	B:216	(50.78, -15.08, 29.09)
9:32419041		G>S	B:222	(34.38, -22.95, 26.08)
9:32419065		M>V	B:230	(33.21, -12.23, 27.19)
9:32419069		L>P	B:231	(29.16, -11.16, 30.03)
9:32419072	rs149099252	G>D	B:232	(31.98, -10.96, 34.10)
9:32419080		I>V	B:235	(36.87, -18.47, 35.96)
9:32419081		I>N	B:235	(36.87, -18.47, 35.96)
9:32419095	rs373705791	P>S	B:240	(45.41, -25.36, 41.38)
9:32419100	rs143208912	Q>H	B:241	(47.75, -29.85, 42.82)
9:32419105		I>T	B:243	(53.30, -30.42, 38.66)
9:32419161		L>F	B:262	(56.49, -35.36, 20.96)
9:32419164		T>S	B:263	(59.34, -36.47, 24.98)
9:32420857	rs377402963	L>V	B:268	(53.15, -35.18, 31.57)
9:32420860		R>C	B:269	(48.18, -37.86, 29.24)
9:32420861		R>H	B:269	(48.18, -37.86, 29.24)
9:32420869		G>R	B:272	(49.05, -37.13, 35.52)
9:32420872		V>L	B:273	(48.40, -33.61, 34.67)
9:32420878		G>S	B:275	(43.68, -30.47, 36.98)
9:32420890		E>K	B:279	(55.38, -23.80, 36.83)
9:32420905	rs142361227	G>R	B:284	(66.94, -25.76, 30.79)
9:32420912	rs187410592	A>V	B:286	(67.31, -20.61, 29.51)
9:32420916		Q>H	B:287	(68.68, -23.93, 26.87)
9:32420919	rs554238047	L>F	B:288	(64.38, -23.33, 25.85)
9:32420931	rs199925403	D>E	B:292	(61.45, -23.64, 21.92)
9:32420933	rs146504268	R>Q	B:293	(60.11, -21.09, 26.70)
9:32420939		T>M	B:295	(56.11, -25.98, 21.13)
9:32420950		M>L	B:299	(51.03, -30.40, 23.01)
9:32420960		E>V	B:302	(47.53, -33.02, 23.68)
9:32420963		Y>C	B:303	(50.65, -32.35, 28.31)
9:32420965		G>R	B:304	(45.94, -32.52, 30.34)
9:32420966		G>E	B:304	(45.94, -32.52, 30.34)
9:32421004		I>V	B:317	(61.88, -9.24, 27.40)
9:32421008	rs150373174	T>M	B:318	(64.61, -10.83, 23.84)
9:32421016		V>L	B:321	(62.61, -6.74, 21.21)
9:32423319	rs138275139	R>C	B:325	(55.79, -6.66, 21.02)
9:32423320	rs111878998	R>H	B:325	(55.79, -6.66, 21.02)
9:32423328		E>K	B:328	(56.57, 3.66, 25.90)
9:32423334	rs149639885	L>I	B:330	(59.43, -3.26, 26.24)
9:32423343		I>V	B:333	(56.58, -5.32, 30.38)
9:32423344		I>T	B:333	(56.58, -5.32, 30.38)
9:32423361		A>S	B:339	(58.13, -4.94, 41.22)
9:32423364		V>L	B:340	(55.13, -7.76, 41.34)
9:32423370	rs146778663	M>V	B:342	(55.34, -11.71, 38.60)
9:32423377	COSM1108101 COSM1108103	R>Q	B:344	(61.86, -17.25, 37.15)
9:32423383		F>S	B:346	(63.92, -19.98, 34.59)
9:32423386	rs552340071	N>S	B:347	(69.76, -19.54, 35.76)
9:32423387		N>K	B:347	(69.76, -19.54, 35.76)
9:32423391	rs185817086	P>S	B:349	(67.95, -22.02, 42.38)
9:32423395		S>C	B:350	(66.57, -19.18, 45.17)
9:32423397	rs537657112	Q>K	B:351	(63.25, -17.35, 41.89)
9:32423401		D>G	B:352	(62.93, -22.37, 42.19)
9:32424547		V>I	B:358	(59.18, -32.25, 41.02)
9:32424583		C>S	B:370	(57.88, -39.33, 15.64)
9:32424584		C>Y	B:370	(57.88, -39.33, 15.64)
9:32424595	rs200462190	K>E	B:374	(46.41, -44.52, 15.43)
9:32424648		S>R	B:391	(55.19, -54.20, 14.20)
9:32424659	rs3814519	A>D	B:395	(48.93, -55.68, 14.93)
9:32425839	rs530391630	G>R	B:398	(44.90, -50.08, 16.99)
9:32425842		F>V	B:399	(45.57, -46.55, 19.75)
9:32425851	rs138520929	F>L	B:402	(47.83, -50.54, 10.98)
9:32425870		H>L	B:408	(48.91, -59.03, 2.25)
9:32425873		H>L	B:409	(52.93, -56.86, 5.99)
9:32425887	rs529985830	T>A	B:414	(51.18, -49.51, -9.97)
9:32425897	rs199591033	Y>C	B:417	(50.39, -37.73, -10.68)
9:32425903		N>S	B:419	(51.13, -39.39, -18.06)
9:32425906		T>S	B:420	(54.22, -40.87, -14.56)
9:32425908		E>K	B:421	(54.46, -44.90, -14.54)
9:32425930		S>F	B:428	(53.44, -44.64, 1.57)
9:32425947		I>V	B:434	(55.09, -27.72, 6.94)
9:32425968		S>G	B:441	(55.72, -20.28, 15.69)
9:32425975	COSM1108116 COSM1108118	P>L	B:443	(62.09, -19.97, 13.69)
9:32425986		L>V	B:447	(64.92, -21.48, 8.95)
9:32425995		G>R	B:450	(65.05, -24.98, 4.48)
9:32427316	rs184849317	A>S	B:456	(68.57, -31.41, -0.98)
9:32427337	rs189305274	V>M	B:463	(59.53, -34.73, -3.64)
9:32427377		G>V	B:476	(54.07, -13.99, 7.38)
9:32427379		V>M	B:477	(56.95, -13.46, 9.58)
9:32427382		V>I	B:478	(57.25, -17.65, 8.16)
9:32427392	rs150560966	Y>C	B:481	(61.50, -16.56, 8.43)
9:32427401		E>G	B:484	(64.81, -11.86, 2.85)
9:32427406	rs34630459	G>R	B:486	(66.70, -18.23, 0.27)
9:32427413		M>T	B:488	(60.80, -20.55, -0.26)
9:32427429		Q>H	B:493	(62.47, -27.84, -6.19)
9:32427434		G>E	B:495	(56.32, -28.68, -2.52)
9:32429424	rs375879049	V>M	B:498	(52.60, -21.00, 0.64)
9:32429467	rs141464328	P>H	B:512	(41.98, -33.17, -2.12)
9:32429489	rs41306075	E>D	B:519	(42.05, -46.26, -7.29)
9:32430417		G>E	B:524	(45.50, -52.52, -2.09)
9:32430452		R>G	B:536	(45.16, -32.71, 18.09)
9:32430468	COSM3926678 COSM3926679	R>Q	B:541	(42.06, -34.10, 13.34)
9:32430486	rs551232686 COSM1554740 COSM1554741	R>Q	B:547	(44.74, -47.14, 8.60)
9:32430512		L>V	B:556	(61.42, -35.17, 10.07)
9:32430522		A>V	B:559	(62.59, -36.22, 5.02)
9:32430530		I>V	B:562	(62.92, -36.55, 0.17)
9:32430546	COSM1238114 COSM1238113	R>K	B:567	(58.28, -49.59, 5.45)
9:32430551	COSM1108128 COSM1108130	D>N	B:569	(67.50, -46.80, 8.59)
9:32430554		F>I	B:570	(66.65, -41.69, 7.49)
9:32430555		F>S	B:570	(66.65, -41.69, 7.49)
9:32430563		E>K	B:573	(68.11, -46.81, 4.04)
9:32431719		V>I	B:577	(72.13, -40.89, -6.10)
9:32431728	rs73477393	K>Q	B:580	(78.79, -35.22, -8.07)
9:32431729		K>M	B:580	(78.79, -35.22, -8.07)
9:32431738	rs376055682	Q>R	B:583	(75.42, -42.94, -1.43)
9:32431740		V>I	B:584	(72.43, -38.69, -0.33)
9:32431761		P>A	B:591	(70.56, -28.84, 9.48)
9:32431762		P>L	B:591	(70.56, -28.84, 9.48)
9:32431773		E>K	B:595	(74.23, -24.61, 10.19)
9:32431774		E>V	B:595	(74.23, -24.61, 10.19)
9:32431786		V>E	B:599	(69.94, -18.02, 9.49)
9:32431789		E>G	B:600	(66.97, -17.71, 13.98)
9:32431791	COSM3906797 COSM3906798	R>C	B:601	(71.59, -15.17, 16.28)
9:32431792	rs145151491	R>H	B:601	(71.59, -15.17, 16.28)
9:32431797		Y>H	B:603	(67.94, -13.80, 7.28)
9:32431813	rs368608810	M>T	B:608	(60.22, -9.24, 9.13)
9:32431818		K>E	B:610	(56.94, -3.46, 12.99)
9:32433745		N>S	B:624	(37.43, -4.51, 3.98)
9:32433768		K>E	B:632	(22.25, -3.08, 18.11)
9:32433777		F>L	B:635	(16.57, -10.03, 10.31)
9:32433799		Y>C	B:642	(26.30, -21.84, 6.74)
9:32433805	rs189552242	K>T	B:644	(19.17, -21.96, 13.73)
9:32433816	rs200941977	F>L	B:648	(20.30, -23.55, 23.37)
9:32433820		F>C	B:649	(18.40, -19.52, 25.54)
9:32433825		N>H	B:651	(9.91, -21.23, 26.86)
9:32434572	COSM1461959 COSM1461960	P>S	B:658	(13.42, -27.80, 41.50)
9:32434576	rs142255667	P>L	B:659	(16.27, -30.42, 40.28)
9:32434584		I>V	B:662	(17.37, -39.11, 35.61)
9:32434590	rs146168465	D>H	B:664	(13.41, -45.33, 33.84)
9:32434594	rs137954533	A>V	B:665	(17.12, -44.11, 31.42)
9:32434608		N>D	B:670	(28.40, -48.51, 25.74)
9:32434621		S>L	B:674	(39.88, -42.17, 24.39)
9:32434639		I>T	B:680	(31.42, -36.20, 20.72)
9:32434645		P>L	B:682	(32.33, -34.10, 14.27)
9:32434647		A>P	B:683	(34.78, -30.66, 12.29)
9:32434668		S>G	B:690	(24.54, -38.34, 7.16)
9:32434678		A>G	B:693	(23.40, -34.86, 4.56)
9:32436253		T>I	B:702	(25.47, -30.30, -3.52)
9:32436255		P>S	B:703	(27.91, -32.80, -1.74)
9:32436271		S>F	B:708	(32.59, -28.06, 7.56)
9:32436274	COSM3703540 COSM3703541	Y>S	B:709	(30.03, -31.63, 10.60)
9:32436282		R>C	B:712	(27.09, -25.70, 8.22)
9:32436283	rs376485136	R>H	B:712	(27.09, -25.70, 8.22)
9:32436297	rs202070059	A>T	B:717	(20.32, -28.83, 12.88)
9:32436300	rs542689519	V>I	B:718	(23.83, -29.50, 11.21)
9:32436303	rs202244128	M>V	B:719	(26.04, -29.49, 14.79)
9:32436309		R>W	B:721	(20.63, -33.56, 12.25)
9:32436330	COSM1108146 COSM1108148	R>C	B:728	(37.03, -43.57, 12.14)
9:32436358		Q>R	B:737	(34.90, -48.17, 13.57)
9:32436360	rs373321398	A>T	B:738	(29.92, -46.73, 13.66)
9:32440476		D>V	B:754	(18.08, -40.97, 13.52)
9:32440479		A>V	B:755	(17.83, -42.86, 17.79)
9:32440487	rs201421085	R>W	B:758	(12.94, -44.17, 17.00)
9:32440488	rs147409743	R>Q	B:758	(12.94, -44.17, 17.00)
9:32440496		Q>K	B:761	(9.28, -38.76, 19.09)
9:32440517	rs371291915 COSM1181604 COSM1181605	V>I	B:768	(26.46, -41.57, 27.82)
9:32440544		G>R	B:777	(40.68, -32.18, 23.26)
9:32440551		S>F	B:779	(37.17, -26.76, 23.06)
9:32440553	rs545955861	R>G	B:780	(35.00, -29.33, 19.46)
9:32440557		D>V	B:781	(30.48, -25.85, 23.03)
9:32440563	rs139727791	A>V	B:783	(30.30, -31.82, 22.70)
9:32448915	rs369726170	E>K	B:798	(36.17, -44.67, 34.14)
9:32448927	rs147876514	R>C	B:802	(39.61, -28.40, 31.60)
9:32448928		R>H	B:802	(39.61, -28.40, 31.60)
9:32448933		H>Y	B:804	(33.52, -32.37, 27.70)
9:32448936	rs140468249	R>C	B:805	(33.90, -31.00, 34.12)
9:32448937		R>H	B:805	(33.90, -31.00, 34.12)
9:32448939		S>G	B:806	(33.22, -27.50, 31.89)
9:32448940		S>T	B:806	(33.22, -27.50, 31.89)
9:32448941		S>R	B:806	(33.22, -27.50, 31.89)
9:32448951		G>R	B:810	(26.95, -25.59, 31.04)
9:32448963		I>L	B:814	(24.66, -34.75, 35.17)
9:32448966		P>A	B:815	(28.94, -34.82, 35.16)
9:32448967		P>L	B:815	(28.94, -34.82, 35.16)
9:32448970		L>P	B:816	(27.79, -39.08, 36.64)
9:32448996	rs180881368	D>H	B:825	(33.02, -54.36, 32.97)
9:32448998		D>E	B:825	(33.02, -54.36, 32.97)
9:32448999		A>T	B:826	(32.92, -54.08, 37.76)
9:32449008	rs144050479	L>F	B:829	(26.89, -52.20, 33.83)
9:32449014	rs374312972 COSM185645	G>R	B:831	(23.35, -50.72, 28.76)
9:32449018		Q>R	B:832	(21.03, -53.80, 27.32)
9:32449042	rs563271664	P>L	B:840	(19.10, -34.84, 45.83)
9:32449063		M>T	B:847	(26.98, -35.21, 45.87)
9:32450026	rs199964011	M>L	B:863	(27.25, -35.12, 41.07)
9:32450039		T>I	B:867	(32.15, -25.48, 42.21)
9:32450041	rs201266375	D>N	B:868	(29.32, -23.73, 45.22)
9:32450062		L>V	B:875	(20.29, -25.24, 40.00)
9:32450066		N>S	B:876	(20.13, -21.90, 36.43)
9:32450087		M>R	B:883	(24.69, -14.88, 32.75)
9:32450089		I>V	B:884	(19.94, -14.71, 30.47)
9:32450092	rs112153542	R>C	B:885	(17.81, -16.73, 34.72)
9:32450093	rs376675400	R>H	B:885	(17.81, -16.73, 34.72)
9:32450106		K>N	B:889	(18.01, -9.15, 37.36)

2B3Y.B | ACO1.

2B3Y.B | ACO1

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

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:32407274	COSM3656806	S>L	B:38	(50.93, -19.69, 38.18)
9:32407360	COSM3664296	N>D	B:67	(51.57, -25.04, 50.13)
9:32418179	COSM1108091	R>Q	B:153	(31.30, -18.60, 8.69)
9:32418371	COSM3703535	S>T	B:174	(46.34, -13.38, 8.84)
9:32418455	COSM3906789	V>M	B:202	(40.33, -17.57, 28.33)
9:32419165	COSM4373541	T>I	B:263	(59.34, -36.47, 24.98)
9:32424607	COSM4373549	D>N	B:378	(52.09, -43.05, 20.68)
9:32433818	COSM1674447	F>L	B:648	(20.30, -23.55, 23.37)