AiPD: Autoinhibited Protein Database

P48775

Gene name	TDO2
Protein name	Tryptophan 2,3-dioxygenase
Names	TDO, Tryptamin 2,3-dioxygenase, Tryptophan oxygenase, TO, TRPO, Tryptophan pyrrolase, Tryptophanase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6999
EC number	1.13.11.11: With incorporation of two atoms of oxygen
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-58 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-58 (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

14 structures for P48775

Entry ID	Method	Resolution	Chain	Position	Source
4PW8	X-ray	290 A	A/B/C/D/E/F/G/H	19-388	PDB
5TI9	X-ray	250 A	A/B/C/D	18-389	PDB
5TIA	X-ray	244 A	A/B/C/D	18-389	PDB
6A4I	X-ray	265 A	A/B/C/D	19-388	PDB
6PYY	X-ray	240 A	A/B/C/D	18-389	PDB
6PYZ	X-ray	202 A	A/B/C/D	18-389	PDB
6UD5	X-ray	205 A	A/B/C/D	18-389	PDB
6VBN	X-ray	318 A	A/B/C/D	18-388	PDB
7LU7	X-ray	230 A	AAA/BBB/CCC/DDD	18-389	PDB
7UI3	X-ray	318 A	A/B/C/D	18-389	PDB
8QV7	X-ray	266 A	A/B/C/D	39-389	PDB
8R5Q	X-ray	262 A	A/B/C/D	39-389	PDB
8R5R	X-ray	308 A	A/B/C/D	39-389	PDB
AF-P48775-F1	Predicted				AlphaFoldDB

370 variants for P48775

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1553957997 RCV000509051 VAR_080251 CA358550694	108	M>I	Familial hypertryptophanemia HYPTRP; reduced tryptophan 2,3-dioxygenase activity; does not affect homotetramerization [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
RCV000509047 rs767123432	165	I>missing	Familial hypertryptophanemia [ClinVar]	Yes	ClinVar dbSNP
rs760062469 CA358547449	2	S>N		No	ExAC TOPMed gnomAD ClinGen
rs760062469 CA3118593	2	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3118594 rs764682812	3	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1466664099 CA358547478	4	C>*		No	gnomAD ClinGen
rs1205744360 CA358547500	6	F>C		No	gnomAD ClinGen
TCGA novel	7	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201490914 CA108825609	8	G>*		No	ESP TOPMed gnomAD ClinGen
rs1348261104 CA358547557	11	F>L		No	gnomAD ClinGen
rs1438839967 CA358547570	12	G>R		No	gnomAD ClinGen
COSM4158883 CA358547578 rs1276743801	12	G>V	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3118621 rs751669460	15	F>L		No	ExAC gnomAD ClinGen
rs755227439 CA358547731	16	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755227439 CA3118624	16	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA3118625 rs781480973	17	K>N		No	ClinGen ExAC gnomAD
CA358547794 rs1289151750	19	P>H		No	TOPMed ClinGen
CA3118627 rs752803657	20	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752803657 CA358547806	20	V>L		No	ExAC TOPMed gnomAD ClinGen
rs1333269291 CA358547859	22	G>A		No	ClinGen gnomAD
CA358547844 rs1400322713	22	G>R		No	TOPMed gnomAD ClinGen
rs1400322713 CA358547841	22	G>S		No	ClinGen TOPMed gnomAD
CA3118628 rs200196655	23	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352396214 CA358547893	24	E>G		No	gnomAD ClinGen
rs745696595 CA3118630	24	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs771705026 CA3118631	27	K>R		No	ClinGen ExAC gnomAD
rs779760124 CA3118632	28	S>P		No	ExAC gnomAD ClinGen
CA108825934 rs987831362	29	Q>P		No	ClinGen TOPMed
CA358548036 rs1200167002	30	T>N		No	gnomAD ClinGen
rs1200167002 CA358548037	30	T>S		No	gnomAD ClinGen
CA3118635 rs768279926	31	G>D		No	ExAC gnomAD ClinGen
rs1188910419 CA358548064	32	V>M		No	ClinGen TOPMed gnomAD
CA3118637 rs761278970	33	N>S		No	ExAC gnomAD ClinGen
CA358548080 rs1560774177	33	N>Y		No	ClinGen Ensembl
TCGA novel	34	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118640 rs773537340	35	A>D		No	ClinGen ExAC gnomAD
TCGA novel	35	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1267581 CA108825976 rs1052265671	36	S>R	oesophagus [Cosmic]	No	Ensembl ClinGen cosmic curated
rs1324351238 CA358548172	37	K>E		No	ClinGen TOPMed
rs1045388641 CA108825983	38	G>E		No	TOPMed ClinGen
rs868580528 CA108825981	38	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	39	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766724263 CA3118642	39	G>V		No	ClinGen ExAC gnomAD
rs751944478 CA358548249	40	L>P		No	ClinGen ExAC gnomAD
CA3118643 rs751944478	40	L>R		No	ClinGen ExAC gnomAD
CA358548253 rs1310813948	41	I>F		No	TOPMed gnomAD ClinGen
CA3118644 rs555186898	43	G>R		No	ClinGen ExAC gnomAD
rs144568577 CA3118646 CA3118647	44	N>K		No	ClinGen ESP ExAC gnomAD
CA3118645 rs767818079	44	N>S		No	ExAC ClinGen
rs202202273 CA358548329	45	Y>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA358548345 rs1257921020	47	H>N		No	gnomAD ClinGen
CA358548354 rs1437662924	47	H>R		No	TOPMed ClinGen
TCGA novel	49	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358548960 rs1560774520	51	V>I		No	ClinGen Ensembl
CA358548982 rs1242828287	52	L>S		No	TOPMed gnomAD ClinGen
TCGA novel	52	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118671 rs766305754	53	N>D		No	ExAC TOPMed gnomAD ClinGen
rs751008035 CA3118672	55	Q>K		No	ExAC TOPMed gnomAD ClinGen
CA358549036 rs1220885272	56	E>D		No	ClinGen gnomAD
CA358549025 rs1385798280	56	E>K		No	TOPMed ClinGen
CA3118673 rs754716007	57	L>P		No	ExAC gnomAD ClinGen
CA108826737 rs11541501	58	Q>H		No	ClinGen Ensembl
CA358549059 rs1157412724	59	S>C		No	ClinGen TOPMed
CA358549057 rs1157412724	59	S>G		No	ClinGen TOPMed
rs780830309 CA3118674	59	S>N		No	ClinGen ExAC gnomAD
rs200748283 CA3118675	60	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA108826744 rs973200565	63	G>*		No	TOPMed ClinGen
CA3118676 rs755754580	64	N>I		No	ExAC gnomAD ClinGen
rs1173742815 CA358549125	65	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA358549136 rs1488920484	66	I>N		No	ClinGen gnomAD
rs1216219523 CA358549149	67	H>R		No	ClinGen gnomAD
TCGA novel	69	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190836350 CA358549229	72	F>L		No	gnomAD ClinGen
CA3118677 rs777201454	72	F>S		No	ClinGen ExAC gnomAD
rs555221814 CA3118678	73	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs374991561 CA3118679	74	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369378447 CA3118680	75	T>A		No	ESP ExAC gnomAD ClinGen
rs746246142 CA3118681	75	T>S		No	ClinGen ExAC gnomAD
CA3118682 rs772497489	76	H>D		No	ExAC TOPMed gnomAD ClinGen
rs1424869039 CA358549298	76	H>R		No	gnomAD ClinGen
CA358549308 rs1157637980	77	Q>E		No	ClinGen gnomAD
CA358550163 rs1579326297	80	E>K		No	Ensembl ClinGen
rs772692064 CA3118700	82	W>*		No	ExAC TOPMed ClinGen
CA358550183 rs1332986115	83	F>L		No	TOPMed ClinGen
CA358550187 rs1410026976	83	F>S		No	TOPMed ClinGen
rs776045715 CA3118701	85	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs1560775571 CA358550203	85	Q>L		No	ClinGen Ensembl
rs923315686 CA108828281	87	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs747341848 CA3118702	87	L>P		No	ExAC TOPMed gnomAD ClinGen
CA358550218 rs1418339400	88	W>R		No	TOPMed ClinGen
rs1189759920 CA358550237	90	L>S		No	ClinGen TOPMed
CA3118705 rs183821149 COSM1228815	94	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs769986428 CA3118706	94	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3118707 rs373264242	95	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3118708 rs759523211	96	I>S		No	ExAC gnomAD ClinGen
rs759523211 CA3118709	96	I>T		No	ClinGen ExAC gnomAD
CA358550280 rs1210851584	97	F>S		No	ClinGen gnomAD
CA358550302 rs1407394488	100	G>C		No	ClinGen gnomAD
CA3118710 rs752520996	100	G>D		No	ExAC TOPMed gnomAD ClinGen
CA3118711 rs376385476	101	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs753558883 CA3118730	102	V>F		No	ClinGen ExAC gnomAD
CA358550651 rs1319538047	102	V>G		No	gnomAD ClinGen
CA3118731 rs761572047	104	D>G		No	ExAC gnomAD ClinGen
CA358550660 rs1182681098	104	D>H		No	TOPMed ClinGen
CA3118732 rs370914256	105	E>K		No	ClinGen ESP ExAC gnomAD
CA3118734 rs746807304	106	R>S		No	ClinGen ExAC TOPMed gnomAD
rs775836134 CA108828955	107	N>I		No	ClinGen Ensembl
rs780718613 CA3118736	113	S>F		No	ExAC gnomAD ClinGen
TCGA novel	113	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118739 rs762647259	114	R>L		No	ExAC TOPMed gnomAD ClinGen
rs762647259 CA3118738	114	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3118737 rs752036029	114	R>W		No	ExAC gnomAD ClinGen
rs555439750 CA3118742	115	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs748430665 CA3118740	115	M>L		No	ExAC gnomAD ClinGen
rs537461457 CA3118741	115	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	116	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360155141 CA358550735	116	H>Y		No	ClinGen gnomAD
rs375801975 CA3118744	117	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375801975 CA3118743	117	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431464781 CA358550749	118	V>A		No	ClinGen TOPMed gnomAD
CA358550750 rs1431464781	118	V>G		No	TOPMed gnomAD ClinGen
CA3118747 rs201248688 RCV000964924	119	S>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3118750 rs761474566	125	L>V		No	ClinGen ExAC gnomAD
CA358550792 rs1352534668	126	V>L		No	ClinGen gnomAD
CA358550799 rs1214903689	127	Q>K		No	ClinGen TOPMed gnomAD
rs1446869431 CA358550830	131	I>V		No	ClinGen TOPMed
CA358550843 rs1347250097	132	L>V		No	ClinGen gnomAD
CA3118751 rs765002500	134	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed ClinGen NCI-TCGA
CA358550895 rs1403044323	135	M>I		No	gnomAD ClinGen
CA358550887 rs1448063326	135	M>T		No	gnomAD ClinGen
CA3118752 rs772941472	136	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762554335 CA3118753	138	L>S		No	ClinGen ExAC gnomAD
TCGA novel	139	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368729518 CA108829017	141	N>S		No	ClinGen ESP TOPMed gnomAD
CA358550973 rs1379844570	142	D>G		No	gnomAD ClinGen
CA108829020 rs992635717	142	D>N		No	gnomAD ClinGen
rs371162757 CA3118754	143	F>L		No	ClinGen ESP ExAC gnomAD
CA358551103 rs1322474762	145	E>*		No	ClinGen TOPMed
rs1336796715 CA358551107	145	E>G		No	TOPMed gnomAD ClinGen
CA358551109 rs1336796715	145	E>V		No	ClinGen TOPMed gnomAD
rs1383175063 CA358551140	147	L>F		No	ClinGen TOPMed
rs1222853819 CA358551146	148	S>P		No	ClinGen gnomAD
rs773134092 CA3118771	149	P>L		No	ClinGen ExAC gnomAD
CA108829789 rs147455400	149	P>S		No	ClinGen ESP TOPMed
CA3118772 rs762745653	151	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1330410002 CA358551187	152	G>S		No	gnomAD ClinGen
CA358551195 COSM3946109 rs1335992689	152	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1232901315 CA358551261	157	Q>R		No	ClinGen TOPMed gnomAD
rs530115805 CA3118774	159	R>*		No	ExAC TOPMed gnomAD ClinGen
CA108829820 rs949993720	159	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs887829658 CA108829824	160	L>P		No	ClinGen Ensembl
CA358551304 rs1197643226	161	L>F		No	ClinGen gnomAD
CA358551298 rs1489986110	161	L>S		No	ClinGen gnomAD
rs753082310 CA3118777	162	E>K		No	ClinGen ExAC gnomAD
CA358551326 rs1185873521	163	N>K		No	TOPMed ClinGen
TCGA novel	164	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358551337 rs1197892339	164	K>R		No	ClinGen gnomAD
rs764503054 CA3118780	166	G>S		No	ClinGen ExAC gnomAD
rs1481361495 COSM1428203 CA358551369	167	V>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1267505332 CA358551362	167	V>I		No	ClinGen gnomAD
CA3118781 rs199550054	168	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1422853440 CA358551382	169	Q>K		No	ClinGen TOPMed gnomAD
CA3118782 rs757507794	173	V>L		No	ClinGen ExAC gnomAD
TCGA novel	174	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460582076 CA358551448	175	Y>C		No	ClinGen TOPMed
rs369184655 CA3118784	176	N>S		No	ClinGen ExAC TOPMed gnomAD
rs552139246 CA108829864	180	Y>S		No	ClinGen Ensembl
rs1301651886 CA358551488	181	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs374938550 CA3118787	181	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374938550 CA3118786	181	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	184	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118788 rs138036577	185	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3118789 rs200816290	186	G>E		No	ClinGen ExAC TOPMed gnomAD
rs200816290 CA358551529	186	G>V		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	188	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229700878 CA358551554	190	E>K		No	ClinGen gnomAD
rs1463281228 CA358551602	197	Q>*		No	ClinGen TOPMed
COSM586302 CA3118795 CA3118794 COSM586303 rs759094500	197	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA358551612 rs1199892270	198	E>D		No	gnomAD ClinGen
CA358551620 CA3118796 rs775054654	199	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA108829933 rs955052353	202	L>R		No	ClinGen Ensembl
rs764550228 CA3118798	203	E>*		No	ClinGen ExAC TOPMed gnomAD
rs754228949 CA3118799	204	L>S		No	ExAC gnomAD ClinGen
CA358551658 rs1457068553	206	E>*		No	gnomAD ClinGen
CA3118800 rs762113400	206	E>A		No	ClinGen ExAC gnomAD
rs774246293 CA108830825	207	A>S		No	ClinGen gnomAD
rs774246293 CA358552385	207	A>T		No	gnomAD ClinGen
rs777064099 CA3118817	207	A>V		No	ExAC TOPMed gnomAD ClinGen
CA358552412 rs1360875438	208	W>*		No	TOPMed ClinGen
rs765585077 CA3118819	210	E>G		No	ClinGen ExAC gnomAD
rs987531049 CA108830849	211	R>G		No	ClinGen Ensembl
rs866009821 CA108830855	211	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3118821 rs763126496	213	P>L		No	ExAC gnomAD ClinGen
CA358552466 rs1383778352	213	P>T		No	ClinGen gnomAD
rs766585701 CA3118822	214	G>D		No	ClinGen ExAC gnomAD
CA3118823 rs563050417	216	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1482924824 CA358552499	218	H>R		No	TOPMed gnomAD ClinGen
CA3118824 rs755051337	219	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs764135609 CA3118825 COSM1267580	222	F>V	oesophagus [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs753898220 CA3118826	222	F>Y		No	ClinGen ExAC
CA3118829 rs778624796	227	E>G		No	ClinGen ExAC gnomAD
CA358552563 rs778624796	227	E>V		No	ClinGen ExAC gnomAD
CA3118830 rs116105292	229	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1291985502	229	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358552582 rs1367424216	230	I>V		No	TOPMed ClinGen
CA358552590 rs1377550691	231	T>A		No	gnomAD ClinGen
CA358552597 rs1468751185	232	R>T		No	TOPMed gnomAD ClinGen
CA358552604 rs1363969365	233	G>D		No	ClinGen TOPMed
CA358552602 rs1338752781	233	G>S		No	ClinGen TOPMed gnomAD
rs145263718 CA3118832	234	L>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA3118834 rs768087619	235	E>D		No	ClinGen ExAC gnomAD
CA108830949 rs746531401	235	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3118833 rs746531401	235	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs776113699 CA3118835	236	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs748659415 CA3118836	237	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3118837 rs770311525	237	E>D		No	ExAC gnomAD ClinGen
rs1322705409 CA358552623	237	E>K		No	gnomAD ClinGen
CA358552635 rs1461340796	238	F>L		No	gnomAD ClinGen
CA3118838 rs773482257	239	I>K		No	ClinGen ExAC gnomAD
rs773482257 CA358552640	239	I>T		No	ExAC gnomAD ClinGen
CA358552638 rs1203229914	239	I>V		No	ClinGen gnomAD
rs1442602743 CA358552647	240	R>M		No	ClinGen TOPMed gnomAD
CA108831027 rs113677641	240	R>S		No	Ensembl ClinGen
rs1178125965 CA358552653	241	I>T		No	gnomAD ClinGen
rs548876943 CA3118839	242	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548876943 CA3118840	242	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3118869 rs765095508	243	A>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	243	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358553225 rs1465434097	244	K>E		No	ClinGen TOPMed
TCGA novel	245	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762871676 CA3118871	245	E>G		No	ClinGen ExAC gnomAD
rs1475747620 CA358553253	248	E>K		No	gnomAD ClinGen
TCGA novel	249	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149182607 CA3118873	250	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA358553283 rs546857515	251	E>D		No	ClinGen ExAC gnomAD
rs780775392 CA3118875	253	Q>*		No	ExAC gnomAD ClinGen
CA358553294 rs780775392	253	Q>E		No	ExAC gnomAD ClinGen
rs1165218143 CA358553298	253	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752164518 CA3118876	254	V>M		No	ClinGen ExAC gnomAD
TCGA novel	255	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118877 rs755585872	257	F>L		No	ExAC gnomAD ClinGen
TCGA novel	257	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3118878 rs558092606	258	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs191446621 CA108833941	259	K>E		No	1000Genomes ClinGen
CA3118879 rs749868487	259	K>N		No	ClinGen ExAC gnomAD
CA3118880 rs771546736	260	Q>*		No	ClinGen ExAC gnomAD
rs1380092696 CA358553382	260	Q>L		No	ClinGen gnomAD
TCGA novel	263	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358553470 rs1350348365	264	L>P		No	ClinGen gnomAD
rs772442907 CA3118883	265	L>P		No	ClinGen ExAC gnomAD
rs143783666 CA3118884	266	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143783666 CA3118885	266	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs183229581 CA3118887	268	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3118886 rs183229581	268	F>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA358553566 rs374630562	269	D>E		No	ClinGen gnomAD
rs1184401767 CA358553597 COSM285638	270	E>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3118888 rs762924646	270	E>K		No	ClinGen ExAC gnomAD
CA3118889 rs375730578	270	E>V		No	ESP ExAC gnomAD ClinGen
COSM1131205 rs751379546 CA3118890	272	R>C	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
COSM1664507 rs200566767 CA3118891	272	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA358553641 rs1270229491	273	H>Y		No	gnomAD ClinGen
rs752463138 CA358553659	274	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3118893 rs752463138	274	E>K		No	ClinGen ExAC TOPMed gnomAD
CA358553711 rs1335454055	276	L>I		No	gnomAD ClinGen
CA358553754 rs1231358430	278	S>N		No	TOPMed ClinGen
CA3118895 rs372207644	279	K>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs372207644 CA358553772	279	K>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA358554405 rs1422846628	283	R>Q		No	TOPMed ClinGen
COSM1228819 rs376756490 CA3118912	283	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3118913 rs753424562	288	A>T		No	ExAC gnomAD ClinGen
rs765841822 CA3118915	289	L>H		No	ClinGen ExAC gnomAD
CA3118914 rs371392643	289	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA358554523 rs1266674199	291	G>E		No	ClinGen gnomAD
CA358554605 rs1560778776	294	M>I		No	ClinGen Ensembl
rs758815488 CA3118917	294	M>K		No	ExAC gnomAD ClinGen
CA3118918 rs780515438	295	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1460057192 CA358554633	295	I>T		No	ClinGen gnomAD
rs1370803251 CA358554649	296	Y>H		No	ClinGen gnomAD
rs747302408 CA3118919	297	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1200926041 CA358554765	298	Y>*		No	TOPMed ClinGen
TCGA novel	299	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755232322 CA3118941	300	E>D		No	ExAC gnomAD ClinGen
CA358555682 rs1426184204	300	E>K		No	TOPMed ClinGen
rs751975339 CA3118940	300	E>V		No	ExAC gnomAD ClinGen
CA358555724 rs1245265689	302	P>S		No	ClinGen gnomAD
rs748429865 CA3118943	303	R>G		No	ClinGen ExAC gnomAD
CA358555772 rs1206369972	304	F>I		No	gnomAD ClinGen
rs937869957 CA108837261	304	F>Y		No	TOPMed ClinGen
CA358555828 rs1444496425	306	V>M		No	TOPMed ClinGen
CA3118946 rs749290880	307	P>S		No	ClinGen ExAC gnomAD
rs1337511130 CA358555938	310	L>F		No	Ensembl ClinGen
rs1448559940 CA358555924	310	L>W		No	gnomAD ClinGen
rs772073395 CA3118947	313	S>F		No	ExAC gnomAD ClinGen
rs1424690388 CA358556006	314	L>F		No	gnomAD ClinGen
rs993555422 CA108837278	315	M>T		No	gnomAD ClinGen
CA3118949 rs145916793	316	D>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs145916793 CA3118950	316	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3118948 rs563174920	316	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358556057 rs563174920	316	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3118951 rs776551864	318	D>G		No	ExAC TOPMed gnomAD ClinGen
CA358556096 rs1579332019	318	D>Y		No	Ensembl ClinGen
rs1450575905 CA358556119	319	S>P		No	gnomAD ClinGen
rs769538953 CA3118953	320	L>P		No	ClinGen ExAC gnomAD
TCGA novel	323	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358556230 rs1223455765	324	W>*		No	ClinGen TOPMed
rs371686207 CA3118954	324	W>C		No	ClinGen ESP ExAC gnomAD
rs781171091 CA3118970	327	N>D		No	ClinGen ExAC gnomAD
CA108837933 rs112502675	329	V>A		No	TOPMed ClinGen
CA3118971 rs747911169	331	M>V		No	ExAC TOPMed gnomAD ClinGen
rs199624861 CA3118972	332	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358556328 rs772941539	336	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3118974 rs762663147	337	G>S		No	ExAC gnomAD ClinGen
rs1268796041 CA358556337	338	S>R		No	ClinGen gnomAD
CA3118976 rs773891785	341	G>D		No	ExAC TOPMed gnomAD ClinGen
rs770406923 CA3118975	341	G>S		No	ClinGen ExAC gnomAD
CA358556362 rs773891785 COSM1671388	341	G>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs559998890 CA3118978	342	T>A		No	ExAC gnomAD ClinGen
rs151132024 CA3118980	343	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3118979 rs375843544 COSM213678	343	G>S	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA108837998 rs140094103	344	G>D		No	ClinGen ESP TOPMed gnomAD
rs764308836 CA3118981	344	G>S		No	ClinGen ExAC gnomAD
CA3118982 rs370054091	346	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA108838009 rs757484794	348	Y>*		No	ClinGen ExAC gnomAD
CA358556408 rs1222487712	350	Y>N		No	gnomAD ClinGen
CA3118984 rs373076944 COSM4155022	352	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA358556422 rs750482663	352	R>P		No	ClinGen ExAC TOPMed gnomAD
rs750482663 CA3118985	352	R>Q	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1352556759 CA358556430	354	T>A		No	TOPMed gnomAD ClinGen
rs1352556759 CA358556431	354	T>S		No	TOPMed gnomAD ClinGen
CA358556831 rs1468806075	357	D>H		No	TOPMed gnomAD ClinGen
TCGA novel	359	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358556854 rs1560780260	360	K>E		No	ClinGen Ensembl
rs1291210150 CA358556861	361	V>I		No	TOPMed gnomAD ClinGen
rs761162667 CA3118998	364	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1213703450 CA358556891	365	L>S		No	gnomAD ClinGen
rs781015237 CA3118999	370	T>I		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	370	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777028860 CA3119000	371	Y>H		No	ExAC TOPMed gnomAD ClinGen
CA358556945 rs777028860	371	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA3119001 rs761979020	373	I>T		No	ClinGen ExAC gnomAD
CA3119002 rs566043744	374	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539780101 CA108839618	375	R>*		No	1000Genomes TOPMed gnomAD ClinGen
CA3119003 rs750489776 COSM1671389	375	R>Q	large_intestine [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs903190451 CA108839625	376	H>Y		No	TOPMed ClinGen
rs1164851941 CA358557038	378	I>T		No	TOPMed gnomAD ClinGen
rs773931901 CA3119004	379	P>L		No	ExAC gnomAD ClinGen
CA358557054 rs773931901	379	P>Q		No	ExAC gnomAD ClinGen
rs773931901 CA108839636	379	P>R		No	ClinGen ExAC gnomAD
rs1414435533 CA358557044	379	P>T		No	ClinGen TOPMed gnomAD
CA3119008 rs756099122	380	K>*		No	ExAC gnomAD ClinGen
CA3119007 rs756099122	380	K>Q		No	ExAC gnomAD ClinGen
CA108839671 rs150315598	380	K>R		No	ClinGen ESP TOPMed
CA3119009 rs115763044	381	M>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs756884760 CA3119010	383	P>A		No	ExAC TOPMed ClinGen
rs1273459891 CA358557132	383	P>L		No	TOPMed ClinGen
rs756884760 CA108839686	383	P>T		No	ExAC TOPMed ClinGen
CA3119011 rs778573711	384	T>N		No	ExAC gnomAD ClinGen
TCGA novel	384	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119013 rs771641094	386	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA358557172 rs1450615939	386	H>Y		No	gnomAD ClinGen
CA358557213 rs1350551192	387	K>R		No	ClinGen gnomAD
CA358557271 rs1203115196	390	Y>F		No	TOPMed gnomAD ClinGen
CA3119015 rs747559451	390	Y>H		No	ClinGen ExAC gnomAD
rs769172314 CA3119016	391	T>S		No	ExAC TOPMed gnomAD ClinGen
rs776888584 CA3119017	392	A>T		No	ClinGen ExAC gnomAD
TCGA novel	393	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3119018 rs762188494	393	E>Q		No	ClinGen ExAC gnomAD
CA358557407 rs1469466836	397	S>N		No	ClinGen gnomAD
rs765389690 CA3119019	398	S>A		No	ExAC TOPMed gnomAD ClinGen
CA358557553 rs1457249272 COSM586299	404	E>*	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA

1 associated diseases with P48775

[MIM: 600627]: Hypertryptophanemia (HYPTRP)

An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia. {ECO:0000269|PubMed:28285122}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive condition characterized by persistent hypertryptophanemia and hyperserotoninemia. {ECO:0000269|PubMed:28285122}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P48775

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P48775

Functions

		Description
EC Number	1.13.11.11	With incorporation of two atoms of oxygen
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

6 GO annotations of molecular function

Name	Definition
amino acid binding	Binding to an amino acid, organic acids containing one or more amino substituents.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
oxygen binding	Binding to oxygen (O2).
tryptophan 2,3-dioxygenase activity	Catalysis of the reaction: L-tryptophan + O2 = N-formyl-L-kynurenine.

4 GO annotations of biological process

Name	Definition
protein homotetramerization	The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.
response to nitroglycerin	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 a nitroglycerin stimulus.
tryptophan catabolic process to acetyl-CoA	The chemical reactions and pathways resulting in the breakdown of tryptophan into other compounds, including acetyl-CoA.
tryptophan catabolic process to kynurenine	The chemical reactions and pathways resulting in the breakdown of tryptophan into other compounds, including kynurenine.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48776	Tdo2	Tryptophan 2,3-dioxygenase	Mus musculus (Mouse)	PR
P21643	Tdo2	Tryptophan 2,3-dioxygenase	Rattus norvegicus (Rat)	PR
Q5EBG2	tdo2	Tryptophan 2,3-dioxygenase	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
A7MBU6	tdo2a	Tryptophan 2,3-dioxygenase A	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q7SY53	tdo2b	Tryptophan 2,3-dioxygenase B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSGCPFLGNN	FGYTFKKLPV	EGSEEDKSQT	GVNRASKGGL	IYGNYLHLEK	VLNAQELQSE
70	80	90	100	110	120
TKGNKIHDEH	LFIITHQAYE	LWFKQILWEL	DSVREIFQNG	HVRDERNMLK	VVSRMHRVSV
130	140	150	160	170	180
ILKLLVQQFS	ILETMTALDF	NDFREYLSPA	SGFQSLQFRL	LENKIGVLQN	MRVPYNRRHY
190	200	210	220	230	240
RDNFKGEENE	LLLKSEQEKT	LLELVEAWLE	RTPGLEPHGF	NFWGKLEKNI	TRGLEEEFIR
250	260	270	280	290	300
IQAKEESEEK	EEQVAEFQKQ	KEVLLSLFDE	KRHEHLLSKG	ERRLSYRALQ	GALMIYFYRE
310	320	330	340	350	360
EPRFQVPFQL	LTSLMDIDSL	MTKWRYNHVC	MVHRMLGSKA	GTGGSSGYHY	LRSTVSDRYK
370	380	390	400
VFVDLFNLST	YLIPRHWIPK	MNPTIHKFLY	TAEYCDSSYF	SSDESD