AiPD: Autoinhibited Protein Database

P21399

Gene name	ACO1 (IREB1)
Protein name	Cytoplasmic aconitate hydratase
Names	Aconitase, Citrate hydro-lyase, Ferritin repressor protein, Iron regulatory protein 1, IRP1, Iron-responsive element-binding protein 1, IRE-BP 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:48
EC number	4.2.1.3: Hydro-lyases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

584-658 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

584-658 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

3 structures for P21399

Entry ID	Method	Resolution	Chain	Position	Source
2B3X	X-ray	254 A	A	2-889	PDB
2B3Y	X-ray	185 A	A/B	2-889	PDB
AF-P21399-F1	Predicted				AlphaFoldDB

721 variants for P21399

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs748552310 CA5018499	2	S>N		No	ClinGen ExAC gnomAD
CA373138445 CA373138447 rs1482161339	3	N>K		No	ClinGen TOPMed gnomAD
CA373138436 rs1250987818	3	N>S		No	ClinGen gnomAD
CA192363469 rs977439368	4	P>L		No	ClinGen TOPMed
rs1031755059 CA373138489	6	A>E		No	ClinGen TOPMed
rs1031755059 CA192363483	6	A>G		No	ClinGen TOPMed
CA5018502 rs201900147	6	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5018501 rs201900147	6	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs770966790 CA5018503	7	H>N		No	ClinGen ExAC gnomAD
CA192363493 rs138295884	8	L>F		No	ClinGen ESP
CA373138532 rs1189368783	10	E>*		No	ClinGen gnomAD
rs1287525535 CA373138549	11	P>S		No	ClinGen TOPMed
CA373138566 rs373990127	12	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759464257 CA5018505	13	D>A		No	ClinGen ExAC gnomAD
CA373138607 rs1291357770	13	D>E		No	ClinGen TOPMed
CA5018506 rs759464257	13	D>V		No	ClinGen ExAC gnomAD
CA373138685 rs1169434132	17	P>Q		No	ClinGen gnomAD
rs1395317431 CA373138692	18	G>R		No	ClinGen TOPMed
rs376599072 CA5018507	19	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5018508 rs762827228	20	K>E		No	ClinGen ExAC gnomAD
rs560315574 CA5018509	21	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA192363526 rs751190138	22	F>L		No	ClinGen ExAC TOPMed gnomAD
rs761603433 CA5018511	25	N>D		No	ClinGen ExAC TOPMed gnomAD
rs767118948 CA5018512	25	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5018513 rs41313772	29	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340380276 CA373138917	30	S>*		No	ClinGen gnomAD
rs755480336 CA5018514	30	S>A		No	ClinGen ExAC gnomAD
CA5018515 rs779491463	31	R>T		No	ClinGen ExAC TOPMed gnomAD
rs185223242 CA5018537	33	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5018538 rs757411707	34	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369961548 CA5018539	34	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537741206 CA5018541	38	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA373139043 rs1361939679	40	R>S		No	ClinGen TOPMed
TCGA novel	44	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446075341 CA373139083	47	I>V		No	ClinGen gnomAD
CA5018544 rs200054852	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5018543 rs372499240	48	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs189645733 CA5018545	50	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1217469432 CA373139116	51	D>E		No	ClinGen gnomAD
CA5018547 rs747973056	51	D>G		No	ClinGen ExAC TOPMed gnomAD
rs774224474 CA5018546	51	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	54	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5018548 rs146631763	55	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5018549 rs773033694	58	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373139191 rs1487329918	58	Q>R		No	ClinGen gnomAD
rs760444329 CA5018550	60	I>F		No	ClinGen ExAC gnomAD
CA5018551 rs765891384	60	I>T		No	ClinGen ExAC gnomAD
rs776065204 CA5018552	66	W>*		No	ClinGen ExAC TOPMed gnomAD
CA373139296 rs1179339387	67	N>K		No	ClinGen TOPMed gnomAD
CA5018553 rs763512887	67	N>S		No	ClinGen ExAC gnomAD
CA5018554 rs139224341	69	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1177675137 CA373139328	70	Q>H		No	ClinGen gnomAD
rs757649438 CA373139342 CA5018556	71	H>Q		No	ClinGen ExAC gnomAD
CA373139346 rs1188624507	72	K>E		No	ClinGen TOPMed
TCGA novel	72	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373139385 rs1268786789	74	I>M		No	ClinGen TOPMed
CA5018557 rs369355555	74	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373139389 rs1355281119	75	E>K		No	ClinGen gnomAD
CA373139433 rs1200691416	77	P>L		No	ClinGen TOPMed
rs756347295 CA5018559	78	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1224047264 CA373139468	79	K>M		No	ClinGen gnomAD
CA373139474 rs1473985906	79	K>N		No	ClinGen TOPMed gnomAD
CA5018560 rs780175690	80	P>S		No	ClinGen ExAC gnomAD
CA192365386 rs956242260	81	A>S		No	ClinGen Ensembl
TCGA novel	81	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373139506 rs1273311415	82	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373139503 rs1273311415	82	R>G		No	ClinGen TOPMed gnomAD
rs143245103 CA5018562	82	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA373139605 rs1274913465	88	F>C		No	ClinGen TOPMed
CA5018565 rs747915637	89	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1449140247 CA373139928	92	P>A		No	ClinGen gnomAD
CA373139930 rs1449140247	92	P>S		No	ClinGen gnomAD
COSM753667 CA5018584 COSM753668 rs758468204	93	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs142930707 CA5018585	95	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5018586 rs746785385	96	D>N		No	ClinGen ExAC gnomAD
CA373139982 rs1383838664	97	F>L		No	ClinGen gnomAD
CA373139998 rs1416539767	99	A>S		No	ClinGen TOPMed
rs745573950 CA5018589	100	M>T		No	ClinGen ExAC gnomAD
rs1364155698 CA373140007	100	M>V		No	ClinGen gnomAD
rs769267795 CA5018590	101	R>C		No	ClinGen ExAC gnomAD
rs1383014395 CA373140022	101	R>H		No	ClinGen gnomAD
rs775035570 CA5018591	103	A>T		No	ClinGen ExAC TOPMed gnomAD
CA373140043 rs1263101405	103	A>V		No	ClinGen gnomAD
COSM214190 CA192366531 rs984195413	104	V>M	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA373140051 rs1354929475	105	K>*		No	ClinGen gnomAD
CA192366552 rs895641100	108	G>A		No	ClinGen TOPMed
rs1207381857 CA373140073	108	G>R		No	ClinGen gnomAD
CA373140088 rs1464748860	110	D>E		No	ClinGen gnomAD
rs762301470 CA5018592	110	D>Y		No	ClinGen ExAC gnomAD
CA373140094 rs1187025778	111	P>L		No	ClinGen TOPMed gnomAD
rs1489916463 CA373140115	114	I>T		No	ClinGen TOPMed
rs772570000 CA5018593	114	I>V		No	ClinGen ExAC gnomAD
CA5018594 rs773570766	115	N>K		No	ClinGen ExAC gnomAD
rs536277060 CA5018595	116	P>A		No	ClinGen ExAC gnomAD
CA373140125 rs536277060	116	P>T		No	ClinGen ExAC gnomAD
CA373140142 rs1587524288	118	C>*		No	ClinGen Ensembl
CA373140139 rs1306981086	118	C>Y		No	ClinGen gnomAD
rs766587886 CA5018596	119	P>L		No	ClinGen ExAC TOPMed gnomAD
CA373140170 rs753979935	122	L>F		No	ClinGen ExAC gnomAD
rs753979935 CA5018597	122	L>V		No	ClinGen ExAC gnomAD
rs41304757 CA5018598	123	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA192366636 rs963698506	127	S>A		No	ClinGen Ensembl
rs202186814 CA5018599	129	Q>H		No	ClinGen 1000Genomes ExAC
rs1455470939 CA373140278	130	V>A		No	ClinGen gnomAD
rs1387751572 CA373140274	130	V>L		No	ClinGen gnomAD
CA5018600 rs561752787	133	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA373140328 rs1383084667	134	R>G		No	ClinGen TOPMed gnomAD
rs976692554 CA192366699	134	R>I		No	ClinGen Ensembl
CA373140339 rs1270732358	134	R>S		No	ClinGen TOPMed
CA5018626 rs375356805	136	A>T		No	ClinGen ESP ExAC TOPMed
rs148577484 CA5018627	137	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254516963 CA373141272	140	Q>K		No	ClinGen gnomAD
rs1481702227 CA373141276	140	Q>R		No	ClinGen gnomAD
CA5018628 rs779706002	141	K>E		No	ClinGen ExAC gnomAD
rs748759131 CA5018630	144	D>N		No	ClinGen ExAC gnomAD
rs748759131 CA5018629	144	D>Y		No	ClinGen ExAC gnomAD
rs1277905792 CA373141345	150	N>H		No	ClinGen TOPMed
COSM1461950 rs142015075 CA192375664 COSM1461949	153	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
COSM1108091 CA192375665 rs199823143 COSM1108089	153	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs771535995 CA5018633	156	F>C		No	ClinGen ExAC gnomAD
TCGA novel	157	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028410753 CA192375844	159	W>C		No	ClinGen TOPMed
CA192375842 rs771023115	159	W>R		No	ClinGen TOPMed gnomAD
CA373142210 rs1457828421	162	Q>H		No	ClinGen gnomAD
rs776053905 CA5018655	166	N>S		No	ClinGen ExAC gnomAD
rs774234584 COSM1636150 COSM1636151 CA5018658	168	R>Q	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs41305321 CA5018657	168	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs544613435 CA5018659	170	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771866685 CA5018660	171	P>L		No	ClinGen ExAC gnomAD
rs1200840999 CA373142401	171	P>S		No	ClinGen gnomAD
CA5018662 rs760657982	173	G>D		No	ClinGen ExAC gnomAD
CA373142500 rs1262323203	175	G>A		No	ClinGen gnomAD
CA5018663 rs766152770	176	I>V		No	ClinGen ExAC gnomAD
rs1187652280 CA373142544	177	I>M		No	ClinGen gnomAD
rs143260336 CA5018664	179	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs759044295 CA5018665	180	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5018666 rs759044295	180	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1476752001 CA373142690	185	L>V		No	ClinGen gnomAD
CA192375917 rs940448475	186	A>P		No	ClinGen gnomAD
CA5018669 rs371287650	189	V>L		No	ClinGen ESP ExAC gnomAD
CA5018671 rs530451988	190	F>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM1701017 rs780495634 CA373142856 COSM1701018	192	Q>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5018672 rs780495634	192	Q>E		No	ClinGen ExAC gnomAD
CA5018673 rs749679991	193	D>E		No	ClinGen ExAC
TCGA novel	194	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373142907 rs1378505027	194	G>A		No	ClinGen gnomAD
CA373142911 rs1563937121	195	Y>H		No	ClinGen Ensembl
rs1341577365 CA373142931	196	Y>H		No	ClinGen TOPMed
CA5018674 rs768708549	198	P>L		No	ClinGen ExAC TOPMed gnomAD
CA192375976 rs1036093594	202	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373143114 rs1423818549	205	D>E		No	ClinGen gnomAD
rs1587533672 CA373143125	206	S>L		No	ClinGen Ensembl
CA5018679 rs61753543	208	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA192375989 rs888997704	209	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760606540 CA5018680	211	I>T		No	ClinGen ExAC gnomAD
rs770860316 CA5018681	213	G>A		No	ClinGen ExAC gnomAD
TCGA novel	214	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776354014 CA5018682	215	G>D		No	ClinGen ExAC TOPMed
rs201517506 CA5018683	216	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	219	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745839445 CA373143492	222	G>C		No	ClinGen ExAC TOPMed gnomAD
rs745839445 CA5018701	222	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373143633 rs1274018433	229	V>L		No	ClinGen gnomAD
rs766343904 CA192376402	230	M>I		No	ClinGen TOPMed
rs775214589 CA5018703	230	M>V		No	ClinGen ExAC gnomAD
rs762599613 CA5018704	231	L>P		No	ClinGen ExAC gnomAD
rs896305309 CA373143667	231	L>V		No	ClinGen TOPMed gnomAD
rs149099252 CA5018705	232	G>D		No	ClinGen ESP ExAC gnomAD
CA373143697 rs1250255749	233	Q>R		No	ClinGen gnomAD
TCGA novel	235	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5018707 rs774527267	235	I>N		No	ClinGen ExAC TOPMed gnomAD
CA5018706 rs773945957	235	I>V		No	ClinGen ExAC gnomAD
CA373143759 rs1246483200	237	M>I		No	ClinGen gnomAD
CA192376428 rs545982690	238	V>M		No	ClinGen Ensembl
rs998617889 CA192376442	240	P>L		No	ClinGen Ensembl
rs373705791 CA5018708	240	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5018710 rs143208912	241	Q>H		No	ClinGen ESP ExAC TOPMed
CA373143803 rs1587534338	241	Q>P		No	ClinGen Ensembl
CA5018713 rs765633870	243	I>T		No	ClinGen ExAC gnomAD
rs1587534369 CA373143867	245	Y>*		No	ClinGen Ensembl
rs1052957996 CA192376484	245	Y>H		No	ClinGen TOPMed
TCGA novel	248	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587534377 CA373143917	248	M>R		No	ClinGen Ensembl
CA373143908 rs1587534371	248	M>V		No	ClinGen Ensembl
CA373143944 rs1587534388	250	K>E		No	ClinGen Ensembl
CA373143960 rs1587534393	251	P>A		No	ClinGen Ensembl
rs867400782 CA373143980	252	H>P		No	ClinGen Ensembl
rs867400782 CA192376491	252	H>R		No	ClinGen Ensembl
TCGA novel	252	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5018716 rs777994072	253	P>R		No	ClinGen ExAC gnomAD
rs1587534424 CA373144039	255	V>G		No	ClinGen Ensembl
CA192376512 rs1023662763	255	V>L		No	ClinGen Ensembl
CA373144044 rs1278613474	256	T>A		No	ClinGen TOPMed
CA373144069 rs1363928435	257	S>C		No	ClinGen gnomAD
rs1297922662 CA373144060	257	S>P		No	ClinGen gnomAD
rs1229084790 CA373144075	258	T>A		No	ClinGen TOPMed
rs1229084790 CA373144072	258	T>P		No	ClinGen TOPMed
CA192376518 rs747053727	260	I>M		No	ClinGen ExAC TOPMed gnomAD
CA373144120 rs1359156435	260	I>N		No	ClinGen gnomAD
rs1293303507 CA373144115	260	I>V		No	ClinGen gnomAD
rs1386824174 CA373144139	261	V>M		No	ClinGen TOPMed
CA5018718 rs757298088	262	L>F		No	ClinGen ExAC gnomAD
rs745813050 CA5018720	263	T>S		No	ClinGen ExAC TOPMed gnomAD
CA373144174 rs1449080635	264	I>T		No	ClinGen gnomAD
CA192376552 rs1003813807	264	I>V		No	ClinGen TOPMed gnomAD
CA373144194 rs1186833323	266	K>E		No	ClinGen gnomAD
rs1366661565 CA373144410	267	H>Y		No	ClinGen TOPMed gnomAD
rs377402963 CA5018738	268	L>V		No	ClinGen ESP ExAC gnomAD
rs779887077 CA5018739	269	R>C		No	ClinGen ExAC TOPMed gnomAD
rs749277564 CA5018740	269	R>H		No	ClinGen ExAC TOPMed gnomAD
CA373144491 rs1410194859	271	V>A		No	ClinGen TOPMed
CA373144489 rs1410194859	271	V>G		No	ClinGen TOPMed
CA373144483 rs1169225031	271	V>L		No	ClinGen TOPMed
CA5018741 rs768547519	272	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778911706 CA5018742	273	V>L		No	ClinGen ExAC gnomAD
rs747799152 CA5018743	275	G>S		No	ClinGen ExAC gnomAD
rs1394948342 CA373144594	277	F>S		No	ClinGen gnomAD
rs1331557480 CA373144606	278	V>I		No	ClinGen gnomAD
CA5018744 rs771629289	279	E>K		No	ClinGen ExAC gnomAD
rs772720976 TCGA novel CA5018745	280	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs772720976 CA5018746	280	F>V		No	ClinGen ExAC TOPMed gnomAD
CA373144683 rs1328936319	282	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5018748 rs142361227	284	G>R		No	ClinGen ESP ExAC gnomAD
rs1563938209 CA373144732	286	A>T		No	ClinGen Ensembl
rs187410592 CA5018749	286	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764435518 CA5018750	287	Q>H		No	ClinGen ExAC gnomAD
rs554238047 CA5018751	288	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs910377932 CA192377809	290	I>T		No	ClinGen TOPMed gnomAD
CA5018753 rs199925403	292	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1277091687 CA373144807	292	D>N		No	ClinGen TOPMed
CA192377821 rs964554426	293	R>*		No	ClinGen TOPMed gnomAD
CA5018754 rs146504268	293	R>Q		No	ClinGen ESP ExAC gnomAD
rs1465219356 CA373144833	294	A>G		No	ClinGen gnomAD
rs756114734 CA5018755	295	T>M		No	ClinGen ExAC TOPMed gnomAD
CA192377831 rs377554984	298	N>S		No	ClinGen ESP TOPMed
CA5018758 rs755034665	299	M>L		No	ClinGen ExAC gnomAD
CA5018759 rs140508190	302	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs747971044 CA5018760	302	E>V		No	ClinGen ExAC gnomAD
CA5018761 rs771711524	303	Y>C		No	ClinGen ExAC gnomAD
CA5018764 rs770327588	304	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746718645 CA5018763	304	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1205909440 CA373144984	306	T>I		No	ClinGen gnomAD
rs950901885 CA192377864	307	A>T		No	ClinGen Ensembl
CA373145037 rs1433518974	310	F>L		No	ClinGen TOPMed
rs750595584 CA192377876	312	V>A		No	ClinGen Ensembl
rs1267752313 CA373145076	314	E>K		No	ClinGen gnomAD
CA5018767 rs556592191	315	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs556592191 CA5018768	315	V>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	316	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245908877 CA373145124	317	I>T		No	ClinGen gnomAD
CA5018770 rs767964183	317	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5018772 rs150373174 VAR_069413	318	T>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA192377926 rs150445617	320	L>P		No	ClinGen ESP
COSM1294458 CA373145174 rs1368717845 COSM1294457	321	V>A	cervix [Cosmic]	No	ClinGen cosmic curated gnomAD
rs754906830 CA5018775	321	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754906830 CA373145167	321	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746724369 CA192377957	322	Q>E		No	ClinGen Ensembl
TCGA novel	323	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1701021 rs138275139 CA5018793 COSM1701022	325	R>C	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs111878998 CA5018794	325	R>H		No	ClinGen ExAC gnomAD
rs752662640 CA5018795	328	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5018796 rs149639885	330	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5018800 rs780850748	333	I>T		No	ClinGen ExAC gnomAD
CA5018799 rs756807053	333	I>V		No	ClinGen ExAC gnomAD
rs745558996 CA5018801	334	K>*		No	ClinGen ExAC gnomAD
rs1181862593 CA373145661	334	K>N		No	ClinGen gnomAD
TCGA novel	335	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006831058 CA192379506	335	K>N		No	ClinGen TOPMed
CA373145694 rs1361328697	336	Y>C		No	ClinGen gnomAD
rs562089015 CA192379511	338	Q>*		No	ClinGen gnomAD
rs1163308394 CA373145729	338	Q>H		No	ClinGen gnomAD
rs755597568 CA5018802	339	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5018803 rs779595165	340	V>L		No	ClinGen ExAC gnomAD
TCGA novel	341	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379019937 CA373145770	341	G>E		No	ClinGen TOPMed
CA373145762 rs1227290108	341	G>R		No	ClinGen TOPMed
rs146778663 CA5018804	342	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	344	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773392518 CA373145824	344	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773392518 COSM1108103 CA5018806 COSM1108101	344	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1303491394 CA373145840	345	D>E		No	ClinGen TOPMed gnomAD
CA5018807 rs747424270	346	F>S		No	ClinGen ExAC TOPMed gnomAD
CA5018810 rs759890281	347	N>K		No	ClinGen ExAC gnomAD
CA5018809 rs552340071	347	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765397045 CA192379535	348	D>E		No	ClinGen ExAC TOPMed gnomAD
rs185817086 CA5018812	349	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762739076 CA5018813	350	S>C		No	ClinGen ExAC gnomAD
CA5018815 rs537657112	351	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485653028 CA373145901	351	Q>P		No	ClinGen gnomAD
rs1473126244 CA373145911	352	D>E		No	ClinGen gnomAD
rs761633478 CA5018816	352	D>G		No	ClinGen ExAC gnomAD
rs1186453366 CA373145907	352	D>H		No	ClinGen gnomAD
rs991574584 CA192379563	353	P>R		No	ClinGen Ensembl
rs1158295945 CA373145919	354	D>H		No	ClinGen gnomAD
TCGA novel	355	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	355	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406138904 CA373145946	357	Q>H		No	ClinGen gnomAD
rs201983073 CA192380351	358	V>A		No	ClinGen Ensembl
CA5018834 rs774323213	358	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs774323213 CA373146362	358	V>L		No	ClinGen ExAC TOPMed
TCGA novel	363	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297694898 CA373146478	363	L>W		No	ClinGen gnomAD
CA373146577 rs1195712848	368	P>L		No	ClinGen gnomAD
CA5018837 rs750222926	370	C>S		No	ClinGen ExAC TOPMed gnomAD
CA5018838 rs760265120	370	C>Y		No	ClinGen ExAC gnomAD
CA192380375 rs960121496	373	P>A		No	ClinGen TOPMed gnomAD
rs200462190 CA5018840	374	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs570643968 CA192380403	374	K>R		No	ClinGen gnomAD
TCGA novel	377	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373146698 rs1390830717	378	D>V		No	ClinGen gnomAD
CA192380408 rs965681864	379	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	379	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373146732 rs1219491441	381	A>T		No	ClinGen Ensembl
CA5018841 rs754480816	381	A>V		No	ClinGen ExAC gnomAD
CA373146739 rs1405756062	382	V>M		No	ClinGen gnomAD
rs924145609 CA192380420	384	D>N		No	ClinGen gnomAD
rs1241088294 CA373146784	385	M>V		No	ClinGen gnomAD
TCGA novel	386	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460703568 CA373146858 CA373146856	389	F>L		No	ClinGen gnomAD
rs7025336 CA192380427	390	E>D		No	ClinGen TOPMed gnomAD
CA373146868 rs1325373197	390	E>G		No	ClinGen TOPMed gnomAD
rs1320707046 CA373146860	390	E>K		No	ClinGen gnomAD
rs1179246483 CA373146877	391	S>G		No	ClinGen gnomAD
CA5018845 rs781637839	391	S>R		No	ClinGen ExAC gnomAD
VAR_048180 CA5018846 rs3814519	395	A>D		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA192380440 rs780944307	396	K>N		No	ClinGen Ensembl
CA5018868 rs530391630	398	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755158738 CA5018869	399	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1433056374 CA373147072	399	F>Y		No	ClinGen TOPMed
rs138520929 CA5018870	402	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749227184 CA192381201	406	P>R		No	ClinGen Ensembl
CA5018873 rs773102797	408	H>L		No	ClinGen ExAC
rs746998837 CA5018874	409	H>L		No	ClinGen ExAC TOPMed gnomAD
CA373147201 rs1257934988	409	H>Q		No	ClinGen TOPMed gnomAD
rs567203838 CA5018875	410	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA373147226 rs1257873430	411	D>V		No	ClinGen TOPMed
CA373147243 rs1199471599	412	H>Q		No	ClinGen TOPMed
CA373147239 rs1278113146	412	H>R		No	ClinGen gnomAD
rs529985830 CA5018877	414	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1320354040 CA373147274	415	F>L		No	ClinGen TOPMed
rs199591033 CA5018878	417	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs199591033 CA373147310	417	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5018880 rs762519258	419	N>S		No	ClinGen ExAC gnomAD
CA192381246 rs763742544	420	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5018881 rs763742544	420	T>S		No	ClinGen ExAC TOPMed gnomAD
CA373147363 CA373147366 rs3780473	421	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5018882 rs750948884	421	E>K		No	ClinGen ExAC TOPMed gnomAD
CA192381263 rs915263030	423	T>I		No	ClinGen Ensembl
rs1587540594 CA373147385	423	T>P		No	ClinGen Ensembl
CA192381268 rs946667312	425	A>T		No	ClinGen Ensembl
rs1432137199 CA373147426	426	H>L		No	ClinGen gnomAD
CA373147448 rs1235047042	427	G>D		No	ClinGen gnomAD
CA5018886 rs755178170	428	S>F		No	ClinGen ExAC gnomAD
CA373147459 rs1303689442	429	V>M		No	ClinGen gnomAD
rs139154946 CA5018888	432	A>P		No	ClinGen ESP ExAC gnomAD
rs139154946 CA5018889	432	A>T		No	ClinGen ESP ExAC gnomAD
CA5018890 rs777891541	434	I>V		No	ClinGen ExAC gnomAD
rs113600182 CA192381299	436	S>G		No	ClinGen Ensembl
CA373147589 rs1344276354	436	S>R		No	ClinGen gnomAD
CA5018892 rs770781100	441	S>G		No	ClinGen ExAC gnomAD
COSM1108118 rs776431987 CA5018893 COSM1108116	443	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5018896 rs775256231	447	L>V		No	ClinGen ExAC gnomAD
CA373147839 rs1391460624	448	G>A		No	ClinGen TOPMed gnomAD
rs1449494815 CA373147868	449	A>V		No	ClinGen gnomAD
TCGA novel	450	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762749604 CA5018897	450	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1359830714 CA373148862	455	K>T		No	ClinGen gnomAD
rs184849317 CA5018912	456	A>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM487354 CA5018915 rs189305274 COSM487355	463	V>M	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1271267590 CA373149096	464	M>I		No	ClinGen TOPMed
CA192382368 rs764846746	465	P>S		No	ClinGen Ensembl
TCGA novel	466	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373149181 rs1317128836	467	I>L		No	ClinGen gnomAD
CA373149215 rs1433553474	467	I>T		No	ClinGen TOPMed
CA373149282 rs1587541854	469	T>P		No	ClinGen Ensembl
rs199873369 CA192382380	469	T>S		No	ClinGen 1000Genomes
CA5018918 rs771652686	476	G>V		No	ClinGen ExAC gnomAD
CA5018919 rs776982474	477	V>M		No	ClinGen ExAC gnomAD
rs760149257 CA5018920	478	V>I		No	ClinGen ExAC gnomAD
rs905704396 CA192382398	479	T>I		No	ClinGen TOPMed gnomAD
CA373149519 rs1401474229	479	T>P		No	ClinGen gnomAD
CA373149546 rs1001411180	480	Y>C		No	ClinGen TOPMed gnomAD
rs1563941261 CA373149538	480	Y>H		No	ClinGen Ensembl
CA192382403 rs1001411180	480	Y>S		No	ClinGen TOPMed gnomAD
CA5018922 rs150560966	481	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	484	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5018925 rs751844533	484	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1376838957 CA373149704	485	S>R		No	ClinGen TOPMed
CA373149726 rs1210890102	486	G>E		No	ClinGen gnomAD
CA5018928 rs34630459 VAR_048181	486	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779935276 CA5018930	488	M>T		No	ClinGen ExAC gnomAD
CA373149778 rs1197681952	489	P>R		No	ClinGen TOPMed
CA192382468 rs373037294	489	P>S		No	ClinGen ESP TOPMed gnomAD
CA5018932 rs768382597	493	Q>H		No	ClinGen ExAC gnomAD
rs1176872544 CA373149870	494	L>V		No	ClinGen gnomAD
rs778399763 CA5018933	495	G>E		No	ClinGen ExAC gnomAD
CA373151249 rs1452599489	496	F>S		No	ClinGen gnomAD
rs375879049 CA373151292	498	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5018955 rs375879049	498	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279847168 CA373151326	499	V>M		No	ClinGen TOPMed
CA373151389 rs1587543870	501	Y>H		No	ClinGen Ensembl
rs1563942404 CA373151566	506	C>S		No	ClinGen Ensembl
rs775950088 CA5018958	507	I>S		No	ClinGen ExAC TOPMed gnomAD
CA5018959 rs775950088	507	I>T		No	ClinGen ExAC TOPMed gnomAD
rs141464328 CA5018961	512	P>H		No	ClinGen ESP ExAC gnomAD
rs1272447112 CA373151880	515	E>V		No	ClinGen gnomAD
CA373151895 rs1340665486	516	P>A		No	ClinGen gnomAD
CA373151931 rs1563942438	517	V>L		No	ClinGen Ensembl
CA5018962 rs41306075	519	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373152091 rs750286577	522	T>I		No	ClinGen gnomAD
CA192384131 rs750286577	522	T>K		No	ClinGen gnomAD
rs1587543947 CA373152131	523	Q>*		No	ClinGen Ensembl
rs773545224 CA5018981	524	G>E		No	ClinGen ExAC gnomAD
CA373152415 rs1226376826	525	D>H		No	ClinGen TOPMed
CA5018983 rs376382833	526	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5018982 rs376382833	526	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377734523 CA373152504	527	V>I		No	ClinGen gnomAD
TCGA novel	528	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298359848 CA373152599	531	V>A		No	ClinGen TOPMed
rs1293056334 CA373152644	533	S>A		No	ClinGen gnomAD
rs1338965407 CA373152675	534	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765245218 CA5018986	536	R>G		No	ClinGen ExAC gnomAD
rs752397721 CA5018987	541	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1280319878 CA373152909	542	V>I		No	ClinGen gnomAD
rs948403672 CA192384916	543	H>L		No	ClinGen TOPMed gnomAD
CA373152971 rs1214471885	544	P>S		No	ClinGen gnomAD
CA373153030 rs1392528095	546	T>S		No	ClinGen TOPMed
CA5018990 rs763849839	547	R>G		No	ClinGen ExAC TOPMed gnomAD
rs551232686 CA373153041	547	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1554740 rs551232686 CA5018991 COSM1554741	547	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs763849839 CA5018989	547	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750337798 CA192384947	549	N>I		No	ClinGen TOPMed
CA373153134 rs1170140041	550	Y>N		No	ClinGen TOPMed
rs932430194 CA192384958	551	L>S		No	ClinGen Ensembl
rs1182113291 CA373153218	552	A>D		No	ClinGen TOPMed gnomAD
CA373153225 COSM1108125 rs1182113291 COSM1108127	552	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA373153295 rs201567528	555	P>A		No	ClinGen TOPMed gnomAD
CA5018992 rs147879556	555	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373153306 rs147879556	555	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5018993 rs147879556	555	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201567528 CA373153298	555	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA192384980 rs201567528	555	P>T		No	ClinGen TOPMed gnomAD
rs1203481656 CA373153326	556	L>*		No	ClinGen TOPMed
CA5018994 rs755397936	556	L>V		No	ClinGen ExAC gnomAD
CA192384987 rs934463036	558	I>M		No	ClinGen TOPMed
rs1049919993 CA373153393	559	A>P		No	ClinGen gnomAD
CA192384998 rs1049919993	559	A>S		No	ClinGen gnomAD
CA5018995 rs779444546	559	A>V		No	ClinGen ExAC gnomAD
CA373153445 rs1312704297	561	A>T		No	ClinGen gnomAD
CA5018996 rs748651303	562	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1329809751 CA373153477	563	A>S		No	ClinGen gnomAD
CA5018999 rs747163796	567	R>K		No	ClinGen ExAC gnomAD
rs776806842 COSM1108128 CA5019001 COSM1108130	569	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769809176 CA5019003	570	F>I		No	ClinGen ExAC TOPMed gnomAD
rs775480200 CA5019004	570	F>S		No	ClinGen ExAC TOPMed gnomAD
rs769809176 CA192385067	570	F>V		No	ClinGen ExAC TOPMed gnomAD
CA373153616 rs1289736040	571	E>D		No	ClinGen TOPMed gnomAD
CA192385073 rs1053641599	571	E>K		No	ClinGen TOPMed
rs762862154 CA5019005	573	E>K		No	ClinGen ExAC gnomAD
rs753517552 CA373153683	576	G>*		No	ClinGen Ensembl
rs753517552 CA192385114	576	G>R		No	ClinGen Ensembl
rs747402713 CA5019018	577	V>I		No	ClinGen ExAC gnomAD
CA373154336 rs1265960040	579	A>T		No	ClinGen gnomAD
rs781536310 CA5019020	580	K>M		No	ClinGen ExAC
rs1171616963 CA373154355	580	K>N		No	ClinGen gnomAD
rs73477393 CA5019019	580	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373154391 rs1372888673	582	Q>R		No	ClinGen gnomAD
CA5019021 rs376055682	583	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5019022 rs769908972	584	V>I		No	ClinGen ExAC gnomAD
TCGA novel	586	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192386133 rs879591052	589	I>T		No	ClinGen Ensembl
CA373154566 rs1587545997	590	W>S		No	ClinGen Ensembl
CA5019025 rs774908713	591	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774091732 CA5019026	591	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA192386146 rs774908713	591	P>T		No	ClinGen ExAC TOPMed gnomAD
CA373154615 rs1351221697	593	R>G		No	ClinGen TOPMed
rs760311892 CA5019030	595	E>K		No	ClinGen ExAC gnomAD
CA5019031 rs765848694	595	E>V		No	ClinGen ExAC gnomAD
rs1218790114 CA373154667	596	I>T		No	ClinGen gnomAD
rs188187425 CA192386198	598	A>E		No	ClinGen 1000Genomes
CA373154704 rs758927242	599	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5019033 rs758927242	599	V>E		No	ClinGen ExAC TOPMed gnomAD
CA5019035 rs752155661	600	E>G		No	ClinGen ExAC gnomAD
CA373154710 rs1339305530	600	E>K		No	ClinGen TOPMed
CA5019036 rs757678488	601	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5019037 rs145151491	601	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs746031459 CA5019038	603	Y>H		No	ClinGen ExAC
rs1157673817 CA373154875	606	P>L		No	ClinGen TOPMed
rs1162831154 CA373154880	607	G>R		No	ClinGen gnomAD
CA5019041 rs368608810	608	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs768760890 CA5019042	610	K>E		No	ClinGen ExAC gnomAD
rs1025882890 CA192386252	613	Y>C		No	ClinGen TOPMed
TCGA novel	614	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	614	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982368311	619	V>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA373156144 rs1445451402	621	E>D		No	ClinGen gnomAD
CA373156172 rs1299535351	622	S>R		No	ClinGen gnomAD
CA5019061 rs554654868	623	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA373156174 rs1373595065	623	W>R		No	ClinGen gnomAD
rs754106444 CA5019062	624	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1563944439 CA373156224	625	A>D		No	ClinGen Ensembl
rs1563944444 CA373156290	629	P>L		No	ClinGen Ensembl
CA5019064 rs779030858	632	K>E		No	ClinGen ExAC gnomAD
TCGA novel	633	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5019066 rs772011252	635	F>L		No	ClinGen ExAC gnomAD
rs1481063532 CA373156397	636	W>*		No	ClinGen gnomAD
rs202008941 CA192387726	638	S>P		No	ClinGen 1000Genomes
CA373156456 rs1236455222	640	S>Y		No	ClinGen gnomAD
CA373156467 rs1455611127	641	T>A		No	ClinGen gnomAD
COSM1108140 CA192387727 COSM1108142 rs770368084	641	T>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs770368084 CA373156470	641	T>R		No	ClinGen TOPMed
CA5019067 rs777577329	642	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs901784975 CA192387739	644	K>E		No	ClinGen Ensembl
CA373156515 rs189552242	644	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5019069 rs189552242	644	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373156539 rs1462931030	646	P>S		No	ClinGen TOPMed gnomAD
COSM1674447 COSM1674446 CA5019070 rs200941977	648	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs759323554 CA5019071	649	F>C		No	ClinGen ExAC gnomAD
rs769428525 CA5019072	651	N>H		No	ClinGen ExAC TOPMed gnomAD
CA373156624 rs554093149	651	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA373156638 rs1440917660	652	L>P		No	ClinGen gnomAD
CA373156757 TCGA novel rs1398393712	653	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
TCGA novel	654	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745450675 CA5019090	658	P>S		No	ClinGen ExAC gnomAD
CA5019091 rs142255667	659	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373156836 rs1214446348	659	P>S		No	ClinGen gnomAD
CA373156845 rs1449892479	660	K>E		No	ClinGen gnomAD
CA373156858 rs1217904606	660	K>N		No	ClinGen gnomAD
CA5019092 rs775096741	662	I>V		No	ClinGen ExAC gnomAD
CA373156898 rs1477381155	663	V>A		No	ClinGen gnomAD
CA192388655 rs190036940	664	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146168465 CA5019093	664	D>H		No	ClinGen ESP ExAC TOPMed
rs137954533 CA5019095	665	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373156939 rs1377505916	666	Y>C		No	ClinGen TOPMed gnomAD
rs761310345 CA5019096	670	N>D		No	ClinGen ExAC gnomAD
rs1162227317 CA373157012	672	G>R		No	ClinGen gnomAD
CA373157030 rs1387986702	673	D>Y		No	ClinGen TOPMed gnomAD
CA5019098 rs754214724	674	S>L		No	ClinGen ExAC TOPMed gnomAD
rs149480947 CA192388711	675	V>I		No	ClinGen ESP TOPMed gnomAD
rs559965283 CA192388720	676	T>I		No	ClinGen Ensembl
rs1245832258 CA373157118	679	H>P		No	ClinGen gnomAD
CA192388722 rs143970071	679	H>Y		No	ClinGen ESP
rs765475645 CA5019100	680	I>T		No	ClinGen ExAC gnomAD
CA5019102 rs758388830	682	P>L		No	ClinGen ExAC gnomAD
CA5019103 rs764295557	683	A>P		No	ClinGen ExAC gnomAD
CA373157228 rs1487919951	687	A>S		No	ClinGen gnomAD
CA373157237 rs1214239276	688	R>G		No	ClinGen gnomAD
CA192388777 rs745374398	689	N>I		No	ClinGen Ensembl
rs751450274 CA5019104	690	S>G		No	ClinGen ExAC TOPMed gnomAD
CA373136010 rs1379640618	691	P>L		No	ClinGen TOPMed
rs757227454 CA5019105	693	A>G		No	ClinGen ExAC gnomAD
rs1485852366 CA373136027	693	A>T		No	ClinGen gnomAD
CA5019107 rs781080591	694	R>C		No	ClinGen ExAC gnomAD
rs756010290 CA5019108	694	R>H		No	ClinGen ExAC gnomAD
rs756010290 CA5019109	694	R>P		No	ClinGen ExAC gnomAD
rs781080591 CA5019106	694	R>S		No	ClinGen ExAC gnomAD
CA192329176 rs148657938	695	Y>C		No	ClinGen ESP TOPMed
rs886721291 CA192329195	698	N>I		No	ClinGen TOPMed gnomAD
TCGA novel	699	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423382525 CA373136301	701	L>P		No	ClinGen gnomAD
rs773484032 CA5019169	702	T>I		No	ClinGen ExAC gnomAD
CA5019170 rs760667152	703	P>S		No	ClinGen ExAC gnomAD
rs766458832 CA5019172	704	R>*		No	ClinGen ExAC TOPMed gnomAD
CA373136342 rs1358395100	704	R>Q		No	ClinGen TOPMed gnomAD
CA192330663 rs764574685	707	N>I		No	ClinGen gnomAD
CA5019173 rs753750006	708	S>F		No	ClinGen ExAC gnomAD
COSM3703541 CA373136429 COSM3703540 rs759325876	709	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5019174 rs759325876	709	Y>S		No	ClinGen ExAC gnomAD
CA5019175 rs764953534	712	R>C	Variant assessed as Somatic; 0.0002312 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376485136 CA5019176	712	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA373136469 rs376485136	712	R>P		No	ClinGen ESP ExAC gnomAD
rs758109603 CA5019177	713	R>*		No	ClinGen ExAC TOPMed gnomAD
CA192330709 rs369736600	713	R>Q		No	ClinGen ESP TOPMed gnomAD
rs201438165 CA192330719	715	N>D		No	ClinGen Ensembl
CA373136507 rs1188246221	715	N>S		No	ClinGen TOPMed
rs202070059 CA373136541	717	A>S		No	ClinGen ExAC TOPMed gnomAD
rs202070059 CA5019179	717	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs542689519 CA5019180	718	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5019181 rs202244128	719	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769000549 CA5019183	721	R>Q		No	ClinGen ExAC gnomAD
rs749776375 CA5019182	721	R>W		No	ClinGen ExAC TOPMed gnomAD
CA192330766 rs80241842	722	G>E		No	ClinGen 1000Genomes
TCGA novel	726	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192330797 rs111935283	727	I>T		No	ClinGen Ensembl
CA5019186 rs748369667 COSM1108146 COSM1108148	728	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1416025860 CA373136629	728	R>H		No	ClinGen TOPMed gnomAD
rs1176477039 CA373136636	729	L>F		No	ClinGen gnomAD
rs1357658001 CA373136645	731	N>D		No	ClinGen TOPMed
rs773395876 CA5019188	737	Q>R		No	ClinGen ExAC gnomAD
CA5019189 rs373321398	738	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373136703 rs1377005005	739	P>S		No	ClinGen gnomAD
CA373136709 rs1326888949	740	Q>E		No	ClinGen TOPMed
CA5019190 rs770936793	740	Q>H		No	ClinGen ExAC gnomAD
rs904424538 CA192330877	746	S>F		No	ClinGen TOPMed gnomAD
CA373136748 rs1320222155	746	S>T		No	ClinGen TOPMed
CA373136757 rs1270628433	747	G>A		No	ClinGen gnomAD
rs899896542 CA373136941	751	D>E		No	ClinGen gnomAD
CA373136934 rs1423950935	751	D>N		No	ClinGen gnomAD
rs1477278875 CA373136946	752	V>A		No	ClinGen gnomAD
CA5019218 rs767041812	754	D>V		No	ClinGen ExAC gnomAD
CA5019219 rs749953124	755	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5019222 rs147409743	758	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201421085 CA5019221	758	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1563947059 CA373136996	760	Q>L		No	ClinGen Ensembl
rs753277923 CA5019223	761	Q>K		No	ClinGen ExAC gnomAD
CA373137029 rs1027207166	765	P>H		No	ClinGen TOPMed
rs1027207166 CA192333470	765	P>L		No	ClinGen TOPMed
CA373137028 rs1218281501	765	P>S		No	ClinGen gnomAD
CA373137041 rs374624250	767	I>M		No	ClinGen TOPMed
rs1029637272 CA192333476	767	I>T		No	ClinGen Ensembl
CA5019227 rs371291915 COSM1181605 COSM1181604	768	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA373137050 rs1449768892	769	L>P		No	ClinGen gnomAD
rs1263660565 CA373137057	770	A>V		No	ClinGen gnomAD
CA373137142 rs1162094754	775	G>A		No	ClinGen gnomAD
CA373137138 rs1472878490	775	G>S		No	ClinGen gnomAD
rs769943890 CA5019231	777	G>R		No	ClinGen ExAC gnomAD
TCGA novel	777	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5019232 rs779912319	779	S>F		No	ClinGen ExAC gnomAD
CA192333526 rs545955861	780	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs545955861 CA5019233	780	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA192333542 rs747470214	780	R>L		No	ClinGen TOPMed
rs747470214 CA192333538	780	R>Q		No	ClinGen TOPMed
CA5019235 rs774192274	781	D>V		No	ClinGen ExAC gnomAD
rs1316576489 CA373137229	783	A>T		No	ClinGen gnomAD
rs139727791 CA5019236	783	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs771452701 CA5019243	785	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373137309 rs1286568420	787	P>L		No	ClinGen gnomAD
CA192333586 rs981893736	789	L>R		No	ClinGen TOPMed
CA373138210 rs1382085219	793	K>N		No	ClinGen gnomAD
rs1420153174 CA373138217	794	A>D		No	ClinGen gnomAD
TCGA novel	794	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375980125 CA5019279	795	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375980125 CA5019278	795	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA373138225 rs375980125	795	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373138251 rs1302996104	797	A>D		No	ClinGen gnomAD
CA5019282 rs369726170	798	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5019284 rs555165686	800	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1224946358 CA373138302	801	E>K		No	ClinGen TOPMed gnomAD
rs147876514 CA5019285	802	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs760856294 CA5019286	802	R>H		No	ClinGen ExAC gnomAD
rs1306768618 CA373138339	803	I>T		No	ClinGen TOPMed gnomAD
CA5019287 rs766550080	804	H>Y		No	ClinGen ExAC gnomAD
CA5019288 rs140468249	805	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5019289 rs754994797	805	R>H		No	ClinGen ExAC TOPMed gnomAD
CA373138370 rs754994797	805	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752573064 CA5019291	806	S>G		No	ClinGen ExAC gnomAD
CA5019293 rs777406462	806	S>R		No	ClinGen ExAC gnomAD
rs758417852 CA5019292	806	S>T		No	ClinGen ExAC gnomAD
TCGA novel	808	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5019295 rs757147213	810	G>R		No	ClinGen ExAC gnomAD
rs1026232875 CA192341252	813	V>G		No	ClinGen TOPMed
CA5019297 rs745525671	814	I>L		No	ClinGen ExAC gnomAD
rs769428507 CA5019298	815	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5019299 rs775128282	815	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748583852 CA5019300	816	L>P		No	ClinGen ExAC gnomAD
CA373138535 rs1427481705	816	L>V		No	ClinGen TOPMed
rs1012255074 CA192341299	817	E>D		No	ClinGen TOPMed gnomAD
rs1490554343 CA373138546	817	E>K		No	ClinGen TOPMed
rs1024954004 CA192341302	818	Y>*		No	ClinGen Ensembl
CA373138583 rs1298040756	819	L>F		No	ClinGen gnomAD
rs1221286676 CA373138598	820	P>T		No	ClinGen gnomAD
rs1323055728 CA373138690	823	N>K		No	ClinGen gnomAD
rs1302329931 CA373138683	823	N>T		No	ClinGen gnomAD
CA192341320 rs200246624	824	A>T		No	ClinGen 1000Genomes
CA5019302 rs773625352	825	D>E		No	ClinGen ExAC gnomAD
CA5019301 rs180881368	825	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199640569 CA5019304	826	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760980848 CA5019303	826	A>T		No	ClinGen ExAC gnomAD
CA5019305 rs199640569	826	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144050479 CA5019306	829	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1428223287 CA373139132	830	T>P		No	ClinGen gnomAD
CA5019307 rs374312972	831	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5019309 rs758234936	832	Q>*		No	ClinGen ExAC gnomAD
CA5019310 rs764049502	832	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1028702991 CA192341367	834	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5019311 rs367887952	834	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5019312 rs367887952	834	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA192341391 rs749994493	836	T>S		No	ClinGen Ensembl
TCGA novel	837	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304007343 CA373139246	837	I>V		No	ClinGen TOPMed
CA192341402 rs149168836	838	I>F		No	ClinGen ESP TOPMed
CA5019313 rs781203555	839	I>L		No	ClinGen ExAC TOPMed gnomAD
rs781203555 CA5019314	839	I>V		No	ClinGen ExAC TOPMed gnomAD
rs563271664 CA5019315	840	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1345226309 CA373139317	841	E>D		No	ClinGen gnomAD
CA373139307 rs1404182496	841	E>Q		No	ClinGen TOPMed
rs1587562601 CA373139327	842	N>T		No	ClinGen Ensembl
rs917912455 CA192341460	843	L>F		No	ClinGen TOPMed gnomAD
rs917912455 CA373139340	843	L>V		No	ClinGen TOPMed gnomAD
rs1280270807 CA373139355	844	K>Q		No	ClinGen TOPMed gnomAD
rs748793228 CA5019317	847	M>T		No	ClinGen ExAC gnomAD
rs1423173244 CA373139705	854	D>H		No	ClinGen gnomAD
CA373139716 rs1392094269	855	T>S		No	ClinGen TOPMed
CA5019344 rs568296875 CA192342492	863	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5019343 rs199964011	863	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1316410829 CA373139774	864	R>K		No	ClinGen gnomAD
rs893822179 CA192342494	866	D>H		No	ClinGen TOPMed
CA5019347 rs761816078	867	T>I		No	ClinGen ExAC gnomAD
rs201266375 CA5019348	868	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201266375 CA373139799	868	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA373139806 rs1214870158	869	V>M		No	ClinGen TOPMed gnomAD
rs1279948693 CA373139827	872	T>A		No	ClinGen gnomAD
CA192342525 rs908400175	872	T>I		No	ClinGen Ensembl
CA373139835 rs1203016853	873	Y>C		No	ClinGen gnomAD
rs766094300 CA5019352	875	L>V		No	ClinGen ExAC gnomAD
CA5019353 rs753526223	876	N>S		No	ClinGen ExAC gnomAD
COSM1108158 COSM1108160 CA5019357 rs764702759 CA5019355	877	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5019356 rs764702759	877	G>W		No	ClinGen ExAC TOPMed gnomAD
CA373139868 rs1181006128	879	I>V		No	ClinGen gnomAD
CA373139886 rs1469896322	881	N>T		No	ClinGen gnomAD
CA5019359 rs746370322	883	M>R		No	ClinGen ExAC TOPMed gnomAD
rs756432587 CA5019360	884	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5019361 rs112153542	885	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs376675400 CA5019362	885	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA373139947 rs1403944134	886	K>E		No	ClinGen gnomAD
rs1403944134 CA373139945	886	K>Q		No	ClinGen gnomAD
CA192342676 rs986055223 CA373139983	887	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	888	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5019363 rs769042394	889	K>N		No	ClinGen ExAC gnomAD
CA373140021 rs1203706762	890	K>Q		No	ClinGen TOPMed gnomAD

No associated diseases with P21399

5 regional properties for P21399

Type	Name	Position	InterPro Accession
domain	Aconitase A/isopropylmalate dehydratase small subunit, swivel domain	693 - 818	IPR000573
domain	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain	63 - 564	IPR001030
binding_site	Aconitase family, 4Fe-4S cluster binding site	429 - 445	IPR018136-1
binding_site	Aconitase family, 4Fe-4S cluster binding site	495 - 508	IPR018136-2
domain	Aconitase A, swivel domain	670 - 839	IPR044137

Functions

		Description
EC Number	4.2.1.3	Hydro-lyases
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

7 GO annotations of molecular function

Name	Definition
3 iron, 4 sulfur cluster binding	Binding to a 3 iron, 4 sulfur (3Fe-4S) cluster; this cluster consists of three iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. It is essentially a 4Fe-4S cluster with one iron missing.
4 iron, 4 sulfur cluster binding	Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands.
aconitate hydratase activity	Catalysis of the reaction: citrate = isocitrate. The reaction occurs in two steps: (1) citrate = cis-aconitate + H2O, (2) cis-aconitate + H2O = isocitrate. This reaction is the interconversion of citrate and isocitrate via the labile, enzyme-bound intermediate cis-aconitate. Water is removed from one part of the citrate molecule and added back to a different atom to form isocitrate.
citrate dehydratase activity	Catalysis of the reaction: citrate = cis-aconitate + H2O.
iron-responsive element binding	Binding to an iron-responsive element, a regulatory sequence found in the 5'- and 3'-untranslated regions of mRNAs encoding many iron-binding proteins.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

7 GO annotations of biological process

Name	Definition
cellular iron ion homeostasis	Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.
citrate metabolic process	The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle.
intestinal absorption	Any process in which nutrients are taken up from the contents of the intestine.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
response to iron(II) ion	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron(II) ion stimulus.
tricarboxylic acid cycle	A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P28271	Aco1	Cytoplasmic aconitate hydratase	Mus musculus (Mouse)	PR
Q23500	aco-1	Cytoplasmic aconitate hydratase	Caenorhabditis elegans	PR
Q94A28	ACO2	Aconitate hydratase 2, mitochondrial	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSNPFAHLAE	PLDPVQPGKK	FFNLNKLEDS	RYGRLPFSIR	VLLEAAIRNC	DEFLVKKQDI
70	80	90	100	110	120
ENILHWNVTQ	HKNIEVPFKP	ARVILQDFTG	VPAVVDFAAM	RDAVKKLGGD	PEKINPVCPA
130	140	150	160	170	180
DLVIDHSIQV	DFNRRADSLQ	KNQDLEFERN	RERFEFLKWG	SQAFHNMRII	PPGSGIIHQV
190	200	210	220	230	240
NLEYLARVVF	DQDGYYYPDS	LVGTDSHTTM	IDGLGILGWG	VGGIEAEAVM	LGQPISMVLP
250	260	270	280	290	300
QVIGYRLMGK	PHPLVTSTDI	VLTITKHLRQ	VGVVGKFVEF	FGPGVAQLSI	ADRATIANMC
310	320	330	340	350	360
PEYGATAAFF	PVDEVSITYL	VQTGRDEEKL	KYIKKYLQAV	GMFRDFNDPS	QDPDFTQVVE
370	380	390	400	410	420
LDLKTVVPCC	SGPKRPQDKV	AVSDMKKDFE	SCLGAKQGFK	GFQVAPEHHN	DHKTFIYDNT
430	440	450	460	470	480
EFTLAHGSVV	IAAITSCTNT	SNPSVMLGAG	LLAKKAVDAG	LNVMPYIKTS	LSPGSGVVTY
490	500	510	520	530	540
YLQESGVMPY	LSQLGFDVVG	YGCMTCIGNS	GPLPEPVVEA	ITQGDLVAVG	VLSGNRNFEG
550	560	570	580	590	600
RVHPNTRANY	LASPPLVIAY	AIAGTIRIDF	EKEPLGVNAK	GQQVFLKDIW	PTRDEIQAVE
610	620	630	640	650	660
RQYVIPGMFK	EVYQKIETVN	ESWNALATPS	DKLFFWNSKS	TYIKSPPFFE	NLTLDLQPPK
670	680	690	700	710	720
SIVDAYVLLN	LGDSVTTDHI	SPAGNIARNS	PAARYLTNRG	LTPREFNSYG	SRRGNDAVMA
730	740	750	760	770	780
RGTFANIRLL	NRFLNKQAPQ	TIHLPSGEIL	DVFDAAERYQ	QAGLPLIVLA	GKEYGAGSSR
790	800	810	820	830	840
DWAAKGPFLL	GIKAVLAESY	ERIHRSNLVG	MGVIPLEYLP	GENADALGLT	GQERYTIIIP
850	860	870	880
ENLKPQMKVQ	VKLDTGKTFQ	AVMRFDTDVE	LTYFLNGGIL	NYMIRKMAK