AiPD: Autoinhibited Protein Database

Q05932

Gene name	FPGS
Protein name	Folylpolyglutamate synthase, mitochondrial
Names	Folylpoly-gamma-glutamate synthetase, FPGS, Tetrahydrofolylpolyglutamate synthase, Tetrahydrofolate synthase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2356
EC number	6.3.2.17: Acid--amino-acid ligases (peptide synthases)
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-64 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-64 (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

1 structures for Q05932

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q05932-F1	Predicted				AlphaFoldDB

511 variants for Q05932

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA374940425 rs1166968258	2	S>L		No	ClinGen TOPMed
CA374940433 rs1352322867	3	R>W		No	ClinGen TOPMed gnomAD
CA374940449 rs1463196897	4	A>V		No	ClinGen gnomAD
rs1008651151 CA200282879	5	R>G		No	ClinGen TOPMed gnomAD
rs945994284 CA200282894	5	R>Q		No	ClinGen TOPMed gnomAD
CA200282873 rs1008651151	5	R>W		No	ClinGen TOPMed gnomAD
CA5251959 rs760460465	7	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1233443165 CA374940511	8	L>P		No	ClinGen TOPMed
rs1281817901 CA374940522	9	R>C		No	ClinGen TOPMed gnomAD
CA374940530 rs1588547418	9	R>L		No	ClinGen Ensembl
CA5251960 rs766106139	10	A>T		No	ClinGen ExAC gnomAD
rs1270894238 CA374940557	11	A>S		No	ClinGen TOPMed
CA374940550 rs1270894238	11	A>T		No	ClinGen TOPMed
rs759336102 VAR_066016 CA5251962	13	F>L		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_066016 rs1034635821 CA200282948	13	F>L		No	ClinGen UniProt dbSNP gnomAD
CA200282958 rs1042935574	14	L>V		No	ClinGen TOPMed gnomAD
rs752614531 CA374940627	15	A>G		No	ClinGen ExAC gnomAD
rs904215517 CA200282989	15	A>T		No	ClinGen TOPMed gnomAD
CA5251964 rs752614531	15	A>V		No	ClinGen ExAC gnomAD
rs1185928867 CA374940631	16	A>T		No	ClinGen gnomAD
rs1416685568 CA374940641	16	A>V		No	ClinGen TOPMed gnomAD
rs1429790532 CA374940656	17	A>E		No	ClinGen gnomAD
rs1429790532 CA374940660	17	A>V		No	ClinGen gnomAD
rs993181344 CA200283008	18	S>F		No	ClinGen gnomAD
CA374940663 rs1168795517	18	S>T		No	ClinGen gnomAD
rs993181344 CA374940666	18	S>Y		No	ClinGen gnomAD
rs758265682 CA200283019	19	A>G		No	ClinGen ExAC TOPMed gnomAD
rs758265682 CA5251965	19	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5251966 rs764218816	21	G>D		No	ClinGen ExAC gnomAD
CA374940721 CA200283068 rs10760502	22	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374940747 rs1298479512	22	I>M		No	ClinGen gnomAD
CA374940727 rs1216439772	22	I>T		No	ClinGen gnomAD
CA5251967 rs10760502 VAR_059305 COSM3750153	22	I>V	thyroid large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374940764 rs1468490033	23	T>K		No	ClinGen TOPMed
rs1244134682 CA374940778	24	T>A		No	ClinGen gnomAD
CA374940795 rs1293670109	24	T>I		No	ClinGen gnomAD
CA374940808 rs1214914508	25	Q>E		No	ClinGen gnomAD
rs1240308258 CA374940828	25	Q>R		No	ClinGen gnomAD
CA200283083 rs895525821	26	V>F		No	ClinGen TOPMed gnomAD
CA200283084 rs1014416938	26	V>G		No	ClinGen TOPMed gnomAD
rs895525821 CA374940846	26	V>I		No	ClinGen TOPMed gnomAD
CA374940890 rs1384129112	27	A>S		No	ClinGen gnomAD
CA374940883 rs1384129112	27	A>T		No	ClinGen gnomAD
CA374940902 rs1442388552	27	A>V		No	ClinGen gnomAD
CA374940907 rs1416334030	28	A>S		No	ClinGen gnomAD
CA374940914 rs1416334030	28	A>T		No	ClinGen gnomAD
rs1406338103 CA374940931	28	A>V		No	ClinGen gnomAD
rs1437968900 CA374940958	29	R>L		No	ClinGen gnomAD
CA374940989 rs1450638962	30	R>L		No	ClinGen TOPMed gnomAD
rs1450638962 CA374940972	30	R>Q		No	ClinGen TOPMed gnomAD
rs757514010 CA5251968	30	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1317448875 CA374941003	31	G>R		No	ClinGen TOPMed gnomAD
CA374940998 rs1317448875	31	G>S		No	ClinGen TOPMed gnomAD
rs1222962025 CA374941010	32	L>V		No	ClinGen gnomAD
rs1564439277 CA374941025	33	S>C		No	ClinGen Ensembl
CA374941070 rs1309134159	34	A>E		No	ClinGen TOPMed
rs1281943476 CA374941052	34	A>T		No	ClinGen gnomAD
CA374941079 rs1209352342	35	W>R		No	ClinGen gnomAD
rs866663999 CA200283098	36	P>T		No	ClinGen Ensembl
rs1241909400 CA374941182	38	P>L		No	ClinGen gnomAD
rs1184998322 CA374941215	39	Q>R		No	ClinGen gnomAD
CA200283118 rs1050182157	40	E>G		No	ClinGen Ensembl
CA374941235 rs1237723768	40	E>K		No	ClinGen gnomAD
TCGA novel	41	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374941263 rs1469348583	41	P>R		No	ClinGen gnomAD
rs1588547827 CA374941332	43	M>K		No	ClinGen Ensembl
rs1465179418 CA374941464	45	Y>*		No	ClinGen TOPMed
CA200284470 rs991785511 COSM334908	48	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA374942837 rs780523393	49	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5251990 rs780523393 COSM1496968	49	V>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749592370 CA5251991	50	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200706232 CA200284483	50	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs973692551 CA200284488	51	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	52	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374942930 rs1291314030	52	L>P		No	ClinGen gnomAD
rs201597477 CA200284505	53	N>S		No	ClinGen 1000Genomes gnomAD
CA374942976 rs1201652145	54	T>I		No	ClinGen gnomAD
CA374943070 rs1489932894	57	T>S		No	ClinGen gnomAD
rs746540168 CA5251994	59	A>V		No	ClinGen ExAC gnomAD
rs770498326 CA5251995	60	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374943257 rs1239413659	65	V>M		No	ClinGen TOPMed
rs544321202 CA5251997	67	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5251998 rs544321202	67	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775398490 CA5251999	67	R>H		No	ClinGen ExAC gnomAD
rs142451905 CA5252000	68	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764044781 CA5252001	69	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374943437 rs1299227850	70	G>D		No	ClinGen gnomAD
rs1224654911 CA374943424	70	G>S		No	ClinGen gnomAD
CA374943471 rs1299227850	70	G>V		No	ClinGen gnomAD
CA374943521 rs912069253	71	D>E		No	ClinGen TOPMed gnomAD
rs1475352653 CA374943480	71	D>H		No	ClinGen gnomAD
CA200284646 rs943178492	72	P>R		No	ClinGen gnomAD
rs1489965453 CA374943565	73	Q>P		No	ClinGen gnomAD
rs540189322 CA5252003	74	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767699752 CA5252004	75	Q>*		No	ClinGen ExAC gnomAD
rs750453660 CA5252005	79	M>V		No	ClinGen ExAC gnomAD
rs779651332 CA200284674	80	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	83	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5252009 rs529578177	84	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5252008 rs529578177	84	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5252011 rs753324239	85	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5252010 rs41306702	85	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374944023 rs1398228830	87	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	89	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5252026 rs760630570	91	E>K		No	ClinGen ExAC
TCGA novel	94	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5252028 rs771725616	95	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1028435555 CA200284851	95	R>W		No	ClinGen TOPMed gnomAD
CA374944293 rs1468857865	97	N>Y		No	ClinGen gnomAD
rs1334164448 CA374944313	98	I>V		No	ClinGen gnomAD
CA374944395 rs1290603620	101	V>A		No	ClinGen gnomAD
CA5252031 rs375348019	101	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1460138 CA374944446 rs924645605	104	T>M	Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs924645605 CA200284864	104	T>R		No	ClinGen Ensembl
rs778105218 CA5252033	106	G>R		No	ClinGen ExAC gnomAD
CA374944639 rs1588550894	110	T>P		No	ClinGen Ensembl
rs1430576547 CA374944661	111	C>S		No	ClinGen TOPMed
CA5252060 rs758071703	114	T>A		No	ClinGen ExAC gnomAD
rs777771570 CA5252061	114	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770970034 CA5252063	117	I>F		No	ClinGen ExAC TOPMed gnomAD
rs200083705 CA5252064	119	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5252067 rs770160706	119	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3395585 rs770160706 CA5252066	119	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1431304506 CA374944911	121	Y>F		No	ClinGen gnomAD
rs1170943148 CA374944932	122	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1047628007 CA200285078	123	L>P		No	ClinGen Ensembl
CA200285087 rs868817861	125	T>M		No	ClinGen gnomAD
rs886132949 CA200285109	126	G>E		No	ClinGen TOPMed
CA5252070 rs144611973	126	G>R		No	ClinGen ESP ExAC TOPMed
rs762551719 CA5252097	129	S>R		No	ClinGen ExAC gnomAD
CA374946891 rs1159090154	130	S>C		No	ClinGen gnomAD
rs751331486 CA5252099	130	S>P		No	ClinGen ExAC gnomAD
CA5252100 rs138512683	131	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs750448655 CA5252102	132	H>N		No	ClinGen ExAC gnomAD
rs1382281972 CA374946925 CA374946941	132	H>Q		No	ClinGen TOPMed gnomAD
CA374947009 rs1285730435	134	V>L		No	ClinGen gnomAD
rs780050858 CA5252104	136	V>I		No	ClinGen ExAC gnomAD
rs780050858 CA374947054	136	V>L		No	ClinGen ExAC gnomAD
CA374947091 rs960653952	137	R>P		No	ClinGen TOPMed gnomAD
CA200289825 rs960653952	137	R>Q		No	ClinGen TOPMed gnomAD
COSM1733104 rs1182061435 CA374947120	139	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs768794646 CA5252106	139	R>W		No	ClinGen ExAC gnomAD
rs141645131 CA5252107	141	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs939457319 COSM1733105 CA200289841	141	R>H	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs377363236 CA5252110 COSM1743384	143	N>S	biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564442372 CA374947225	145	Q>E		No	ClinGen Ensembl
CA374947238 rs1284436655	145	Q>H		No	ClinGen TOPMed
rs1225318281 CA374947255	147	I>V		No	ClinGen TOPMed
rs1588554605 CA374947278	148	S>I		No	ClinGen Ensembl
rs1348254052 CA374947316	151	L>P		No	ClinGen TOPMed
CA374947360 rs1588554626	154	K>E		No	ClinGen Ensembl
rs1473344236 CA374947384	155	Y>H		No	ClinGen gnomAD
rs1182040267 CA374947454 COSM1105410	158	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs774893616 COSM119840 CA5252113	158	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374947510 rs763665552	160	Y>*		No	ClinGen ExAC gnomAD
CA374947547 rs751153314	162	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751153314 CA5252116	162	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA200289892 rs868865399	162	R>W		No	ClinGen gnomAD
rs1588554736 CA374947586	164	E>D		No	ClinGen Ensembl
rs1588554727 CA374947581	164	E>G		No	ClinGen Ensembl
rs1314859109 CA374947591	165	E>K		No	ClinGen TOPMed
rs1359482335 CA374947628	167	K>E		No	ClinGen gnomAD
rs1588555064 CA374947845	171	C>S		No	ClinGen Ensembl
rs1044207106 CA200290113	174	M>V		No	ClinGen TOPMed gnomAD
CA374947927 rs1247428982	176	P>A		No	ClinGen gnomAD
CA374947930 rs1449019605	176	P>H		No	ClinGen TOPMed gnomAD
rs1449019605 CA374947931	176	P>L		No	ClinGen TOPMed gnomAD
rs1449019605 CA374947934	176	P>R		No	ClinGen TOPMed gnomAD
CA374947947 rs758650362	177	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758650362 CA5252144	177	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs374697609 CA5252145	179	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374948018 rs1564442657	183	L>V		No	ClinGen Ensembl
CA374948056 rs1588555157	185	A>G		No	ClinGen Ensembl
CA374948083 rs1271252244	187	H>Y		No	ClinGen TOPMed
CA5252149 rs746440861	188	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1273833580 CA374948141	189	F>S		No	ClinGen TOPMed
CA374948159 rs1323641503	190	L>F		No	ClinGen TOPMed gnomAD
rs1329120947 CA374948343	195	D>N		No	ClinGen gnomAD
CA374948523 rs1588555423	201	V>G		No	ClinGen Ensembl
rs1588555459 CA374948720	206	A>G		No	ClinGen Ensembl
rs1299668271 CA374948707	206	A>S		No	ClinGen TOPMed
TCGA novel	207	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374744493 CA5252171	207	Y>N		No	ClinGen ESP ExAC gnomAD
CA374948858 rs1284236832	208	D>E		No	ClinGen Ensembl
rs1386504797 CA374948893	209	C>Y		No	ClinGen TOPMed
rs746735134 CA5252173	210	T>I		No	ClinGen ExAC gnomAD
rs1374786320 CA374948985	211	N>S		No	ClinGen TOPMed
rs1407515503 CA374949018	212	I>V		No	ClinGen TOPMed
rs770468381 CA5252174	214	R>T		No	ClinGen ExAC gnomAD
CA374949374 rs1386253847	216	P>A		No	ClinGen gnomAD
CA5252195 rs775248547	217	V>L		No	ClinGen ExAC TOPMed gnomAD
CA374949402 rs775248547	217	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374949465 rs762924504	219	C>*		No	ClinGen ExAC TOPMed gnomAD
CA5252197 rs768545932	220	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5252198 rs774517199	221	V>I		No	ClinGen ExAC gnomAD
CA5252200 rs373011065	223	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5252201 rs200054323	224	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5252202 rs760977296	226	I>L		No	ClinGen ExAC TOPMed gnomAD
CA374949710 rs760977296	226	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1268930985 CA374949733	227	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200290618 rs952239295	228	H>N		No	ClinGen Ensembl
CA374949794 rs1454394254	229	T>A		No	ClinGen TOPMed gnomAD
CA200290639 rs979498555	230	S>R		No	ClinGen TOPMed gnomAD
CA374949899 rs1389890982	232	L>V		No	ClinGen gnomAD
rs754234653 CA5252205	235	T>M		No	ClinGen ExAC gnomAD
rs138057415 CA200290658	236	V>L		No	ClinGen ESP
rs1294442384 CA374950116	238	K>E		No	ClinGen TOPMed
CA374950133 rs1588555921	238	K>N		No	ClinGen Ensembl
rs1291788377 CA374950183	239	I>T		No	ClinGen gnomAD
rs751093805 CA374950244	240	A>S		No	ClinGen ExAC TOPMed gnomAD
rs751093805 CA5252208	240	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1564443201 CA374950277	241	W>*		No	ClinGen Ensembl
rs1297182213 CA374950306	242	Q>*		No	ClinGen gnomAD
CA374950374 rs1382462711	244	G>W		No	ClinGen TOPMed
rs1273518231 CA374950440	245	G>V		No	ClinGen gnomAD
CA5252213 rs745577142	247	F>L		No	ClinGen ExAC gnomAD
CA5252238 rs778768325	250	G>D		No	ClinGen ExAC gnomAD
rs1158514522 CA374952254	251	V>I		No	ClinGen gnomAD
rs1231026746 CA374952378	256	V>M		No	ClinGen gnomAD
rs1323383283 CA374952525	259	P>R		No	ClinGen TOPMed
CA374952734 rs1358320882	264	A>V		No	ClinGen gnomAD
CA200291196 rs541013836	269	R>*		No	ClinGen TOPMed gnomAD
rs771301592 CA5252243	269	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5252268 rs762305751	277	L>P		No	ClinGen ExAC gnomAD
rs765935827 CA374953482	278	Y>C		No	ClinGen ExAC gnomAD
rs765935827 CA5252269	278	Y>F		No	ClinGen ExAC gnomAD
CA5252270 rs753327063	280	C>Y		No	ClinGen ExAC gnomAD
rs759152324 COSM1314480 CA5252272	281	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5252271 rs759152324	281	P>R		No	ClinGen ExAC gnomAD
rs1410528057 CA374953607	282	M>I		No	ClinGen TOPMed gnomAD
rs758155866 CA200291578	282	M>R		No	ClinGen ExAC TOPMed gnomAD
CA5252274 rs758155866	282	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1303048398 CA374953708	285	A>V		No	ClinGen TOPMed
CA5252277 rs372883379	287	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1303736679 CA374953871	288	E>A		No	ClinGen gnomAD
CA200291604 rs775491551	288	E>K		No	ClinGen Ensembl
CA374953887 rs1228100889	289	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200291618 rs749079922	291	P>A		No	ClinGen TOPMed gnomAD
rs745917370 CA5252281	291	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374953969 rs749079922	291	P>S		No	ClinGen TOPMed gnomAD
CA374953984 rs1449967289	292	P>L		No	ClinGen TOPMed gnomAD
CA374953982 rs1449967289	292	P>R		No	ClinGen TOPMed gnomAD
rs2230270 CA5252284	294	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186438533 CA374954053	294	T>N		No	ClinGen gnomAD
rs1374588715 CA374954106	295	L>R		No	ClinGen TOPMed gnomAD
CA5252285 rs769079401	296	G>D		No	ClinGen ExAC gnomAD
rs762360733 CA5252287	300	E>*		No	ClinGen ExAC gnomAD
rs762360733 CA374954344	300	E>K		No	ClinGen ExAC gnomAD
rs965203643 CA374954465	303	R>L		No	ClinGen TOPMed gnomAD
rs965203643 CA200291721	303	R>Q		No	ClinGen TOPMed gnomAD
CA5252288 rs772537574	303	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM1285050 CA374954558 rs1333395651	306	A>T	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs768512887 CA5252293	307	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374954694 rs1457564425	311	Q>*		No	ClinGen TOPMed
rs539980676 CA5252295	314	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750479758 CA5252298	319	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376937555 CA5252297	319	R>W		No	ClinGen ESP ExAC gnomAD
CA5252299 rs756148731	320	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA374955075 rs1425788468	321	D>G		No	ClinGen TOPMed
CA5252300 rs779995758	321	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749584122 CA5252301	322	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5252302 rs755174848	322	R>H		No	ClinGen ExAC TOPMed gnomAD
CA374955117 rs1385266183	323	H>R		No	ClinGen TOPMed gnomAD
CA5252317 rs755995412	324	G>D		No	ClinGen ExAC gnomAD
CA374955141 rs1333985441	324	G>S		No	ClinGen gnomAD
CA374955355 rs1588558094	325	A>G		No	ClinGen Ensembl
CA200291899 rs1042519733	326	G>R		No	ClinGen Ensembl
rs1287085746 CA374955429	327	E>Q		No	ClinGen gnomAD
rs1178424722 CA374955517	328	P>L		No	ClinGen gnomAD
CA374955509 rs1250317133	328	P>T		No	ClinGen TOPMed
CA200291920 rs555325644	329	K>E		No	ClinGen 1000Genomes
rs1348098346 CA374955612	331	S>F		No	ClinGen gnomAD
rs766532671 CA5252318	331	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5252319 rs181035766	332	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374955680 rs1211170161	333	P>L		No	ClinGen TOPMed
CA200291935 rs866988730	333	P>T		No	ClinGen Ensembl
CA374955690 rs1196333686	334	G>R		No	ClinGen gnomAD
CA374955727 rs1393615889	335	L>F		No	ClinGen gnomAD
CA374955723 rs1393615889	335	L>V		No	ClinGen gnomAD
rs1588558190 CA374955771	336	L>P		No	ClinGen Ensembl
rs1436937234 CA374955810	337	W>*		No	ClinGen gnomAD
CA374955837 rs1174712290	338	Q>K		No	ClinGen gnomAD
CA5252320 rs755225672	340	P>S		No	ClinGen ExAC gnomAD
rs1588558228 CA374955970	341	L>P		No	ClinGen Ensembl
rs1487204241 CA374955992	342	A>S		No	ClinGen TOPMed
CA374956007 rs1290630368	342	A>V		No	ClinGen TOPMed
rs889807024 CA200291970	343	P>S		No	ClinGen TOPMed gnomAD
rs1564444398 CA374956094	344	V>E		No	ClinGen Ensembl
rs1301569240 CA374956081	344	V>M		No	ClinGen gnomAD
CA5252322 rs748528022	349	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1305626275 CA374956333	350	H>R		No	ClinGen gnomAD
rs758697397 CA374956379	352	R>G		No	ClinGen ExAC TOPMed gnomAD
CA374956389 rs777984461	352	R>L		No	ClinGen ExAC gnomAD
CA5252324 rs777984461	352	R>Q		No	ClinGen ExAC gnomAD
rs758697397 CA5252323	352	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	353	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363829028 CA374956505	354	G>R		No	ClinGen TOPMed
CA5252345 rs751830535	355	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5252346 rs757804398	356	R>Q		No	ClinGen ExAC gnomAD
rs1432610959 CA374956783	356	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200292675 rs1047162879	358	T>A		No	ClinGen TOPMed
CA5252348 rs748807377	358	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768345618 CA5252349	359	E>Q		No	ClinGen ExAC gnomAD
rs1466179190 CA374956936	360	W>*		No	ClinGen TOPMed gnomAD
rs778550086 CA5252350	361	P>A		No	ClinGen ExAC TOPMed gnomAD
CA200292707 rs1055673992	362	G>R		No	ClinGen Ensembl
CA374957038 rs1318410785	363	R>G		No	ClinGen gnomAD
rs1368386894 CA374957081	364	T>R		No	ClinGen gnomAD
rs1243127123 CA374957155	366	V>G		No	ClinGen gnomAD
rs1186491225 CA374957249	368	R>L		No	ClinGen gnomAD
rs1186491225 CA374957242	368	R>Q		No	ClinGen gnomAD
rs1158093027 CA374957341	370	G>E		No	ClinGen gnomAD
CA200292745 rs894305055	370	G>R		No	ClinGen gnomAD
rs561727538 CA5252356	372	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1432757903 CA374957607	378	G>S		No	ClinGen gnomAD
rs1314694934 CA374957626	379	A>T		No	ClinGen gnomAD
rs1588559837 CA374957630	379	A>V		No	ClinGen Ensembl
CA5252359 rs752741766	380	H>Y		No	ClinGen ExAC gnomAD
rs544198365 CA200292782	381	T>S		No	ClinGen 1000Genomes
CA5252362 rs764173410	382	A>D		No	ClinGen ExAC TOPMed
CA374957679 rs764173410	382	A>G		No	ClinGen ExAC TOPMed
CA5252360 rs200893897	382	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375071718 CA374957711	383	S>C		No	ClinGen TOPMed gnomAD
CA5252364 rs757492805	383	S>N		No	ClinGen ExAC gnomAD
CA374957745 rs1285368397	384	S>I		No	ClinGen TOPMed gnomAD
CA374957747 rs1285368397	384	S>N		No	ClinGen TOPMed gnomAD
CA374957756 rs1347666133	384	S>R		No	ClinGen TOPMed gnomAD
CA374957767 rs1209218651	385	A>T		No	ClinGen TOPMed gnomAD
CA5252365 rs533659490	385	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5252367 COSM4163353 rs756669526	386	Q>H	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374957812 rs1181092622	387	A>T		No	ClinGen TOPMed gnomAD
rs1231316612 CA374957842	388	C>R		No	ClinGen gnomAD
rs1471272394 CA374957863	389	V>M		No	ClinGen gnomAD
rs778609384 CA5252369	390	R>L		No	ClinGen ExAC gnomAD
CA200292843 rs998898652	391	W>C		No	ClinGen TOPMed
rs747625664 CA5252370	392	F>Y		No	ClinGen ExAC gnomAD
rs1175302633 CA374958017	394	Q>*		No	ClinGen gnomAD
CA200292846 rs957080851	394	Q>P		No	ClinGen TOPMed
rs957080851 CA374958025	394	Q>R		No	ClinGen TOPMed
rs982514535 CA200292869	395	A>P		No	ClinGen TOPMed
rs982514535 CA374958048	395	A>S		No	ClinGen TOPMed
CA374958097 rs1484182938	396	L>R		No	ClinGen gnomAD
CA200292877 rs985841138	397	Q>R		No	ClinGen TOPMed gnomAD
rs1355826016 CA374958149	398	G>A		No	ClinGen TOPMed gnomAD
CA374958163 rs1191709869	399	R>G		No	ClinGen TOPMed
CA374958167 rs1302190697	399	R>H		No	ClinGen gnomAD
CA374958172 rs1302190697	399	R>L		No	ClinGen gnomAD
TCGA novel	399	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200292892 rs940844035	402	P>A		No	ClinGen TOPMed gnomAD
rs1306090676 CA374958266	402	P>L		No	ClinGen gnomAD
CA374958286 rs1306090676	402	P>R		No	ClinGen gnomAD
rs1270941980 CA374958354	404	G>C		No	ClinGen gnomAD
CA374958360 rs1270941980	404	G>S		No	ClinGen gnomAD
CA374958387 rs1439671769	404	G>V		No	ClinGen gnomAD
rs1012820944 CA200293147	405	G>V		No	ClinGen TOPMed gnomAD
rs374911170 CA5252404	406	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766998163 CA5252408	407	E>A		No	ClinGen ExAC TOPMed gnomAD
rs766998163 CA5252407	407	E>G		No	ClinGen ExAC TOPMed gnomAD
COSM1252743 rs971022292 CA200293163	407	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	407	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443761718 CA374959569	409	R>*		No	ClinGen TOPMed
rs1443761718 CA374959567	409	R>G		No	ClinGen TOPMed
CA5252410 rs763564170	411	L>V		No	ClinGen ExAC gnomAD
CA374959852 rs1289166385	414	N>K		No	ClinGen gnomAD
rs751038682 CA5252411	414	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756923955 CA5252413	416	T>A		No	ClinGen ExAC gnomAD
CA5252414 rs372248926	416	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374959947 rs1335395848	417	G>A		No	ClinGen gnomAD
CA374959943 rs1335395848	417	G>E		No	ClinGen gnomAD
COSM1460141 CA374959942 rs1313539642	417	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs908243973 CA200293186	418	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	418	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5252417 rs201212758	421	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1247765964 CA374960115	421	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5252416 rs201212758	421	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374960173 rs1209926519	422	A>V		No	ClinGen gnomAD
CA374960217 rs1486617672	423	A>G		No	ClinGen gnomAD
rs1486617672 CA374960221	423	A>V		No	ClinGen gnomAD
CA374960344 rs1588561041	425	L>P		No	ClinGen Ensembl
rs1220769605 CA374960403	426	K>R		No	ClinGen TOPMed
CA374960432 rs1181862562	427	L>V		No	ClinGen gnomAD
CA200293236 rs998734947	428	L>V		No	ClinGen Ensembl
CA5252420 rs778894175	429	Q>*		No	ClinGen ExAC gnomAD
rs1305711729 CA374960886	430	P>L		No	ClinGen gnomAD
CA374960866 rs1294712715	430	P>S		No	ClinGen gnomAD
rs1258220461 CA374960999	433	F>S		No	ClinGen gnomAD
CA5252442 rs747286536	434	D>H		No	ClinGen ExAC TOPMed gnomAD
CA374961022 rs747286536	434	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	434	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294328255 CA374961085	435	Y>C		No	ClinGen TOPMed
rs771250197 CA5252443	436	A>T		No	ClinGen ExAC gnomAD
CA200294089 rs867040154	436	A>V		No	ClinGen Ensembl
CA200294118 VAR_043929 rs12686275	437	V>D		No	ClinGen UniProt Ensembl dbSNP
rs373630875 CA5252445	437	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374961222 rs1192161472	438	F>S		No	ClinGen gnomAD
CA200294128 rs376080304	440	P>S		No	ClinGen ESP TOPMed
CA200294169 rs763436314	445	V>L		No	ClinGen ExAC gnomAD
CA5252448 rs763436314	445	V>M		No	ClinGen ExAC gnomAD
CA200294171 rs928508071	447	S>F		No	ClinGen TOPMed gnomAD
CA374961612 rs1359778479	449	G>D		No	ClinGen gnomAD
CA5252450 rs749901901	450	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5252449 rs767062921	450	N>S		No	ClinGen ExAC gnomAD
COSM1105413 CA374961655 rs1333568632	451	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1230957295 CA374961670	451	A>V		No	ClinGen gnomAD
rs1274606843 CA374961704	452	D>N		No	ClinGen gnomAD
CA5252467 rs772733624	453	Q>*		No	ClinGen ExAC gnomAD
CA374963715 rs772733624	453	Q>E		No	ClinGen ExAC gnomAD
rs760122205 CA5252468	454	Q>R		No	ClinGen ExAC gnomAD
rs1253503137 CA374963908	457	T>I		No	ClinGen TOPMed
CA374963912 rs1335600186	458	V>M		No	ClinGen gnomAD
rs1225666370 CA374963935	459	T>S		No	ClinGen TOPMed
rs776411648 CA5252470	461	D>N		No	ClinGen ExAC
CA374964034 rs1277361435	463	V>I		No	ClinGen gnomAD
CA5252472 VAR_066017 rs35789560	466	R>C	expression is reduced by 1.86-fold; Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate; Km of glutamic acid is increased 3.5-fold and apparent Vmax of it is reduced 3.4-fold; reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.32-fold increase in the EC(50) for folic acid; IC(50) of methotrexate is 1.84-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected; all results are for isoform 2 variant in comparison to the wild-type of it [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752513284 CA5252473	466	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1456586115 CA374964167	467	C>S		No	ClinGen gnomAD
CA5252475 rs764062248	470	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	471	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5252476 rs751690370	471	Q>P		No	ClinGen ExAC gnomAD
rs1203940694 CA374964376	474	W>R		No	ClinGen gnomAD
rs571996329 CA5252481 COSM1701766	478	D>E	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5252482 rs151273174	479	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs769167372 CA5252483	480	E>Q		No	ClinGen ExAC gnomAD
rs774774318 CA5252484	481	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs955641282 CA200296813	481	Q>K		No	ClinGen TOPMed
CA5252485 rs748600079	482	A>D		No	ClinGen ExAC gnomAD
rs770532449 CA5252487	484	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770532449 CA5252486	484	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1438650931 CA374964696	487	W>*		No	ClinGen TOPMed
rs115478065 CA5252489	488	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17855900 VAR_043930 CA5252490	489	A>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1434803018 CA374964768	490	P>R		No	ClinGen gnomAD
rs762766291 CA5252491	490	P>S		No	ClinGen ExAC gnomAD
CA5252492 rs763973951	492	P>R		No	ClinGen ExAC gnomAD
CA374964831 rs1480511374	493	E>D		No	ClinGen TOPMed
rs1226717291 CA374964848	494	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1226717291 CA374964847	494	P>R		No	ClinGen gnomAD
rs1213991555 CA374964853 COSM1460142	495	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs750428981 CA5252496	498	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200314440 CA5252499 VAR_066018	499	S>F	expression reduced by 2.11-fold; Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate; apparent Vmax for glutamic acid is reduced 5-fold; reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.28-fold increase in the EC(50) for folic acid; IC(50) of methotrexate is 1.64-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected; all results are for isoform 2 variant in comparison to the wild-type of it [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA200296891 rs199525158	500	L>P		No	ClinGen 1000Genomes gnomAD
rs552129194 CA5252503	503	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs772430355 CA5252504	503	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745314721 CA5252506	504	P>A		No	ClinGen ExAC gnomAD
CA5252507 rs769572236	504	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1588567430 CA374965006	505	H>P		No	ClinGen Ensembl
rs1179439664 CA374965012	505	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	505	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762678205 CA5252509	505	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1325946824 CA374965031	506	P>L		No	ClinGen gnomAD
rs1325946824 CA374965027	506	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1588567478 CA374965036	507	P>A		No	ClinGen Ensembl
rs1418704961 CA374965056	508	H>Y		No	ClinGen TOPMed
rs1554808158 CA374965139	511	S>N		No	ClinGen Ensembl
rs773985322 CA5252511	512	A>G		No	ClinGen ExAC gnomAD
rs1430716550 CA374965178	512	A>P		No	ClinGen gnomAD
rs1430716550 CA374965173	512	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374965216 rs1219360438	513	S>N		No	ClinGen gnomAD
CA5252517 rs766443523	516	V>I		No	ClinGen ExAC TOPMed gnomAD
rs369079697 CA5252520	518	S>T		No	ClinGen ESP ExAC gnomAD
CA5252521 rs752967848	519	C>*		No	ClinGen ExAC gnomAD
rs1477834915 CA374965393	519	C>Y		No	ClinGen gnomAD
CA374965460 rs1415122123	522	H>L		No	ClinGen gnomAD
CA374965501 rs1459182352	523	A>G		No	ClinGen gnomAD
rs1470483113 CA374965479	523	A>T		No	ClinGen TOPMed gnomAD
rs1165350720 CA374965548	525	Q>H		No	ClinGen gnomAD
CA200296941 rs1038721266	527	I>S		No	ClinGen TOPMed
VAR_043931 CA200296946 rs34354111	528	S>T		No	ClinGen UniProt Ensembl dbSNP
rs373315771 COSM1207467 CA5252522	531	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1400599916 CA374965710	531	R>L		No	ClinGen TOPMed gnomAD
rs1400599916 CA374965709	531	R>P		No	ClinGen TOPMed gnomAD
rs1400599916 CA374965707	531	R>Q		No	ClinGen TOPMed gnomAD
CA374965760 rs1363025842	533	P>T		No	ClinGen gnomAD
rs778086953 CA5252523	534	I>V		No	ClinGen ExAC gnomAD
CA200296964 rs553086956	538	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA374965954 rs1412722030	538	P>S		No	ClinGen TOPMed
rs897978150 CA200296973	541	P>S		No	ClinGen TOPMed gnomAD
CA374966070 rs1284540707	542	K>E		No	ClinGen TOPMed gnomAD
CA5252524 rs747542695	543	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5252525 rs769483536	544	L>V		No	ClinGen ExAC gnomAD
rs748988858 CA5252527	545	L>F		No	ClinGen ExAC TOPMed gnomAD
CA374966242 rs1564448612	547	H>L		No	ClinGen Ensembl
rs774217492 CA5252529	547	H>Q		No	ClinGen ExAC gnomAD
CA5252530 rs761456090	548	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761456090 CA5252531	548	P>T		No	ClinGen ExAC TOPMed gnomAD
rs773091641 CA5252532	552	S>G		No	ClinGen ExAC TOPMed gnomAD
CA200297001 rs887797356	552	S>N		No	ClinGen TOPMed
CA5252533 rs773091641	552	S>R		No	ClinGen ExAC TOPMed gnomAD
CA374966478 rs1474434364	553	G>R		No	ClinGen TOPMed
rs192754549 CA5252534	558	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1002170832 CA200297009	558	R>H		No	ClinGen TOPMed gnomAD
rs192754549 CA374966695	558	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449231143 CA374966723	559	E>D		No	ClinGen TOPMed
CA200297010 rs1034186522	559	E>G		No	ClinGen Ensembl
rs1204011154 CA374966808	563	I>T		No	ClinGen TOPMed
rs1281571658 CA374966800	563	I>V		No	ClinGen TOPMed
CA200297019 rs891394001	564	H>R		No	ClinGen TOPMed
rs776664902 CA5252535	565	V>M		No	ClinGen ExAC gnomAD
TCGA novel	568	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588568095 CA374967059	570	S>R		No	ClinGen Ensembl
CA5252537 rs138533799	572	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1009808987 CA200297037	572	H>Y		No	ClinGen TOPMed gnomAD
rs753121731 CA5252539	576	G>R		No	ClinGen ExAC gnomAD
rs753121731 CA374967205	576	G>S		No	ClinGen ExAC gnomAD
CA5252540 rs199944654	577	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184755219 CA5252545	584	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5252544 rs184755219	584	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460060678 CA374967493	585	L>V		No	ClinGen TOPMed
CA374967514 rs1413607931	586	S>P		No	ClinGen TOPMed
CA5252546 rs754688500	587	Q>R		No	ClinGen ExAC gnomAD

No associated diseases with Q05932

6 regional properties for Q05932

Type	Name	Position	InterPro Accession
domain	FCH domain	1 - 93	IPR001060
domain	SH3 domain	538 - 599	IPR001452
domain	HR1 rho-binding domain	397 - 474	IPR011072
domain	F-BAR domain	1 - 263	IPR031160
domain	FNBP1L, SH3 domain	541 - 597	IPR035493
domain	FNBP1L, F-BAR domain	5 - 256	IPR035494

Functions

		Description
EC Number	6.3.2.17	Acid--amino-acid ligases (peptide synthases)
Subcellular Localization	[Isoform 1]: Mitochondrion inner membrane Mitochondrion matrix ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
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.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding	Binding to a metal ion.
tetrahydrofolylpolyglutamate synthase activity	Catalysis of the reaction: ATP + tetrahydrofolyl-(Glu)(n) + L-glutamate = ADP + phosphate + tetrahydrofolyl-(Glu)(n+1).

11 GO annotations of biological process

Name	Definition
animal organ regeneration	The regrowth of a lost or destroyed animal organ.
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
folic acid metabolic process	The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.
folic acid-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of folic acid and its derivatives.
folic acid-containing compound metabolic process	The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units.
glutamate metabolic process	The chemical reactions and pathways involving glutamate, the anion of 2-aminopentanedioic acid.
liver development	The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes.
nucleobase-containing compound metabolic process	Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.
one-carbon metabolic process	The chemical reactions and pathways involving the transfer of one-carbon units in various oxidation states.
tetrahydrofolylpolyglutamate biosynthetic process	The chemical reactions and pathways resulting in the formation of tetrahydrofolylpolyglutamate, a folate derivative comprising tetrahydrofolate attached to a chain of glutamate residues.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48760	Fpgs	Folylpolyglutamate synthase, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSRARSHLRA	ALFLAAASAR	GITTQVAARR	GLSAWPVPQE	PSMEYQDAVR	MLNTLQTNAG
70	80	90	100	110	120
YLEQVKRQRG	DPQTQLEAME	LYLARSGLQV	EDLDRLNIIH	VTGTKGKGST	CAFTECILRS
130	140	150	160	170	180
YGLKTGFFSS	PHLVQVRERI	RINGQPISPE	LFTKYFWRLY	HRLEETKDGS	CVSMPPYFRF
190	200	210	220	230	240
LTLMAFHVFL	QEKVDLAVVE	VGIGGAYDCT	NIIRKPVVCG	VSSLGIDHTS	LLGDTVEKIA
250	260	270	280	290	300
WQKGGIFKQG	VPAFTVLQPE	GPLAVLRDRA	QQISCPLYLC	PMLEALEEGG	PPLTLGLEGE
310	320	330	340	350	360
HQRSNAALAL	QLAHCWLQRQ	DRHGAGEPKA	SRPGLLWQLP	LAPVFQPTSH	MRLGLRNTEW
370	380	390	400	410	420
PGRTQVLRRG	PLTWYLDGAH	TASSAQACVR	WFRQALQGRE	RPSGGPEVRV	LLFNATGDRD
430	440	450	460	470	480
PAALLKLLQP	CQFDYAVFCP	NLTEVSSTGN	ADQQNFTVTL	DQVLLRCLEH	QQHWNHLDEE
490	500	510	520	530	540
QASPDLWSAP	SPEPGGSASL	LLAPHPPHTC	SASSLVFSCI	SHALQWISQG	RDPIFQPPSP
550	560	570	580
PKGLLTHPVA	HSGASILREA	AAIHVLVTGS	LHLVGGVLKL	LEPALSQ