AiPD: Autoinhibited Protein Database

Q9Y697

Gene name	NFS1
Protein name	Cysteine desulfurase, mitochondrial
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9054
EC number	2.8.1.7: Sulfurtransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-62 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-62 (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

12 structures for Q9Y697

Entry ID	Method	Resolution	Chain	Position	Source
5KZ5	EM	1430 A	1/2/3/4/M/N/O/P/Q/R/S/T	67-457	PDB
5USR	X-ray	309 A	A/C/E/G	56-457	PDB
5WGB	X-ray	275 A	A	56-457	PDB
5WKP	X-ray	315 A	A/E	56-457	PDB
5WLW	X-ray	332 A	A/E	56-457	PDB
6NZU	EM	320 A	A/E	55-457	PDB
6UXE	X-ray	157 A	A	56-457	PDB
6W1D	X-ray	179 A	A	56-457	PDB
6WI2	X-ray	195 A	A	56-457	PDB
6WIH	X-ray	190 A	A	56-457	PDB
7RTK	X-ray	250 A	A	56-457	PDB
AF-Q9Y697-F1	Predicted				AlphaFoldDB

356 variants for Q9Y697

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs200592030 CA9837328 VAR_085966	72	R>Q	COXPD52; decreased protein expression in homozygous patient cells [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA408772249 rs1180053241	2	L>V		No	ClinGen gnomAD
rs1304139939 CA408772232	3	L>F		No	ClinGen gnomAD
rs1482854694 CA408772212	4	R>Q		No	ClinGen gnomAD
CA9837380 rs754877097	5	A>G		No	ClinGen ExAC gnomAD
rs1002673199 CA314154212	6	A>D		No	ClinGen gnomAD
CA408772181 rs1032147947	6	A>S		No	ClinGen TOPMed gnomAD
rs1032147947 CA314154219	6	A>T		No	ClinGen TOPMed gnomAD
CA408772119 rs1226952324	9	R>Q		No	ClinGen gnomAD
rs1315196209 CA408772108	10	A>E		No	ClinGen TOPMed gnomAD
rs561483384 CA314154201	10	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA314154197 rs540238425	13	A>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs540238425 CA408772077	13	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs978314549 CA314154176	14	V>G		No	ClinGen Ensembl
rs1382628358 CA408772028	16	A>E		No	ClinGen TOPMed gnomAD
CA408772025 rs1382628358	16	A>V		No	ClinGen TOPMed gnomAD
CA408771978 rs1448400934	19	G>E		No	ClinGen TOPMed gnomAD
CA408771956 rs1601541477	20	P>L		No	ClinGen Ensembl
rs1268523482 CA408771919	22	P>S		No	ClinGen TOPMed
CA408771899 rs1458089692	23	A>T		No	ClinGen gnomAD
CA314154152 rs1012824837	32	R>C		No	ClinGen TOPMed gnomAD
CA408771687 rs1459192800	32	R>H		No	ClinGen gnomAD
rs768180326 CA9837371	33	V>A		No	ClinGen ExAC gnomAD
rs898398704 CA314154115	33	V>I		No	ClinGen TOPMed gnomAD
COSM1026294 CA9837370 rs760067558	34	G>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA314153531 rs962834416	36	R>C		No	ClinGen gnomAD
CA408771515 rs962834416	36	R>G		No	ClinGen gnomAD
rs1335787548 CA408771495	37	A>G		No	ClinGen TOPMed
CA408771501 rs1286015739	37	A>S		No	ClinGen TOPMed
rs1403949893 CA408771487	38	P>S		No	ClinGen gnomAD
CA408771447 rs1360937888	40	S>C		No	ClinGen gnomAD
rs1463334143 CA408771432	41	A>G		No	ClinGen TOPMed
CA408771439 rs1267285880	41	A>T		No	ClinGen TOPMed
rs766798320 CA314153526	43	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9837368 rs766798320 COSM3799489	43	P>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA408771392 rs766798320	43	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9837366 rs773479525	44	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408771334 rs1184846069	45	D>H		No	ClinGen TOPMed
rs77784756 CA408771306	46	T>A		No	ClinGen gnomAD
CA9837365 rs769997455	46	T>I		No	ClinGen ExAC TOPMed gnomAD
CA314153491 rs769997455	46	T>K		No	ClinGen ExAC TOPMed gnomAD
CA314153499 rs77784756	46	T>P		No	ClinGen gnomAD
rs769997455 CA408771291	46	T>R		No	ClinGen ExAC TOPMed gnomAD
CA9837364 rs776667112	48	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9837363 rs776667112	48	A>S		No	ClinGen ExAC TOPMed gnomAD
CA408771253 rs776667112	48	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9837361 rs746995060	49	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9837362 rs746995060	49	A>V		No	ClinGen ExAC TOPMed gnomAD
CA408771199 rs1400791724	50	P>A		No	ClinGen gnomAD
COSM313219 rs1219201777 CA408771180	50	P>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs994160392 CA314153413	51	E>D		No	ClinGen TOPMed
rs528945969 CA408771173	51	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9837359 rs528945969	51	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408771118 rs1601540672	52	V>G		No	ClinGen Ensembl
rs778778685 CA9837357	52	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778778685 CA9837358	52	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	55	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9837354 rs141257298	56	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368874682 CA9837352	57	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs766781670 CA9837351	58	P>T		No	ClinGen ExAC gnomAD
rs889522576 CA314153376	60	Y>C		No	ClinGen TOPMed
CA408770915 rs1334812813	61	M>V		No	ClinGen gnomAD
CA9837349 rs750753717	63	V>L		No	ClinGen ExAC gnomAD
rs750753717 CA408770869	63	V>M		No	ClinGen ExAC gnomAD
rs1261075997 CA408770854	64	Q>K		No	ClinGen TOPMed
CA408770830 rs1404445182	65	A>T		No	ClinGen gnomAD
CA408770817 rs1174291495	66	T>S		No	ClinGen gnomAD
CA9837329 rs762095039	72	R>W		No	ClinGen ExAC TOPMed gnomAD
rs998992481 CA314152859	77	M>I		No	ClinGen TOPMed
CA408769455 rs1436804083	78	L>F		No	ClinGen TOPMed gnomAD
CA408769446 rs1290353945	78	L>P		No	ClinGen gnomAD
CA9837327 rs764212362	80	Y>H		No	ClinGen ExAC gnomAD
CA9837325 rs775403337	84	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1429348337 CA408769349	84	Y>D		No	ClinGen gnomAD
CA9837324 rs772098298	85	Y>C		No	ClinGen ExAC gnomAD
rs774393300 CA9837322	87	N>S		No	ClinGen ExAC gnomAD
CA408769257 rs1324413045	89	H>D		No	ClinGen TOPMed gnomAD
CA408769247 rs1601539705	89	H>P		No	ClinGen Ensembl
CA408769255 rs1324413045	89	H>Y		No	ClinGen TOPMed gnomAD
CA408769221 rs749034132	91	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9837319 rs772983645 COSM350187	91	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9837320 rs749034132	91	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9837317 COSM1217245 rs747740419	92	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408769189 rs1463021083	93	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs894431625 CA314152739	93	H>Y		No	ClinGen TOPMed
rs369763557 CA314152733	98	E>D		No	ClinGen ESP TOPMed gnomAD
rs199585102 CA9837316	98	E>G		No	ClinGen ExAC gnomAD
CA9837315 rs754441690	99	S>G		No	ClinGen ExAC
rs1223301739 CA408769102	99	S>I		No	ClinGen gnomAD
rs1601539637 CA408769091	99	S>R		No	ClinGen Ensembl
rs746373988 CA9837314	100	E>A		No	ClinGen ExAC TOPMed gnomAD
CA9837313 rs779331589	101	A>V		No	ClinGen ExAC gnomAD
TCGA novel	102	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408769049 rs1568967551	103	M>V		No	ClinGen Ensembl
CA9837312 rs757680256	105	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA408769014 rs1197784637	105	R>H		No	ClinGen TOPMed
rs1311599218 CA408769001	106	A>V		No	ClinGen gnomAD
CA9837310 COSM1136788 rs764420057	107	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9837294 rs749713687	109	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	110	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474657685 CA408768761	112	S>A		No	ClinGen TOPMed
CA408768756 rs1359253893	112	S>Y		No	ClinGen gnomAD
rs1177549635 CA408768736	114	I>T		No	ClinGen gnomAD
rs1170916303 CA408768723	115	G>A		No	ClinGen gnomAD
rs534532230 CA9837291	115	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1478712173 CA408768698	117	D>V		No	ClinGen gnomAD
rs1186290541 CA408768687	118	P>T		No	ClinGen TOPMed
CA9837290 rs767791186 COSM1217246	119	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755167638 CA9837289	119	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755167638 CA408768675	119	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1383437475 CA408768662	120	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751657668 CA9837288	122	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	T>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262820912 CA408768539	127	A>D		No	ClinGen TOPMed gnomAD
rs1309638321 CA408768404	133	I>T		No	ClinGen gnomAD
CA314151619 COSM1533440 rs951984188	135	I>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1332536418 CA408766046	137	G>R		No	ClinGen TOPMed
rs1222522432 CA408765994	140	R>*		No	ClinGen gnomAD
CA9837246 rs141945347	140	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs977957886 CA314146715	143	R>G		No	ClinGen gnomAD
CA9837245 rs769101652	144	S>L		No	ClinGen ExAC gnomAD
CA9837244 rs747237535	145	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148627243 CA314146709	145	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs112446981 CA9837242	146	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778759434 CA408765842	148	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs750509299 CA9837241	148	H>R		No	ClinGen ExAC gnomAD
CA314146658 rs750567195	148	H>Y		No	ClinGen Ensembl
CA408765812 rs1420699609	151	T>A		No	ClinGen gnomAD
rs1420699609 CA408765814	151	T>P		No	ClinGen gnomAD
rs1169966839 CA408765797	152	T>I		No	ClinGen TOPMed gnomAD
CA408765804 rs1601532727	152	T>P		No	ClinGen Ensembl
rs757198952 CA9837239	153	Q>R		No	ClinGen ExAC gnomAD
CA408765772 rs1344511070	154	T>R		No	ClinGen TOPMed
rs1373062234 CA408765763	155	E>G		No	ClinGen gnomAD
CA408765677 rs1601532693	161	D>A		No	ClinGen Ensembl
rs866909167 CA314146625	162	S>A		No	ClinGen Ensembl
CA408765670 rs866909167	162	S>P		No	ClinGen Ensembl
CA314146614 rs767771335	163	C>F		No	ClinGen Ensembl
rs1202650389 CA408765651	163	C>W		No	ClinGen gnomAD
rs763911805 CA9837237	164	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201938733 CA314146588	165	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9837234 rs767187029	171	F>L		No	ClinGen ExAC TOPMed gnomAD
rs759036095 CA9837233	173	V>A		No	ClinGen ExAC gnomAD
rs773889381 CA314146542	174	T>I		No	ClinGen ExAC TOPMed
rs773889381 CA9837232	174	T>S		No	ClinGen ExAC TOPMed
rs1435599222 CA408765577	175	Y>C		No	ClinGen TOPMed
rs1385105147 CA408765573	176	L>F		No	ClinGen gnomAD
CA9837228 rs777210326	178	V>G		No	ClinGen ExAC gnomAD
CA408765559 rs1321400831	178	V>L		No	ClinGen TOPMed gnomAD
CA408765561 rs1321400831	178	V>M		No	ClinGen TOPMed gnomAD
rs769152638 CA9837227	179	Q>K		No	ClinGen ExAC gnomAD
CA408765554 rs1364030701	179	Q>R		No	ClinGen TOPMed
rs1408633308 CA408765529	182	G>E		No	ClinGen gnomAD
rs1477523226 CA408765521	183	I>M		No	ClinGen TOPMed
CA314146487 rs993074234	185	D>G		No	ClinGen gnomAD
CA9837206 rs777332553	189	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1001805886 CA314140501	189	L>P		No	ClinGen Ensembl
rs761158233 CA9837204	191	A>T		No	ClinGen ExAC gnomAD
rs1179002974 CA408763510	191	A>V		No	ClinGen gnomAD
rs775903706 CA9837203	192	A>T		No	ClinGen ExAC gnomAD
rs746138031 CA9837201	193	I>L		No	ClinGen ExAC TOPMed gnomAD
rs774373577 CA9837200	193	I>M		No	ClinGen ExAC gnomAD
CA9837202 rs746138031	193	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9837199 rs147549547	194	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs749356678 CA9837198	198	S>C		No	ClinGen ExAC TOPMed gnomAD
CA314140436 rs906083307	198	S>I		No	ClinGen TOPMed gnomAD
CA9837197 rs777756370	200	V>M		No	ClinGen ExAC gnomAD
CA408763356 rs1399583592	202	V>I		No	ClinGen gnomAD
rs137871264 CA9837196	205	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA408763236 rs1479373750 COSM1681653	207	N>S	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9837194 rs145260730	208	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA314140410 rs376256909	212	K>N		No	ClinGen ESP TOPMed gnomAD
CA408763034 rs1379203198	215	I>M		No	ClinGen TOPMed
TCGA novel	215	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187056522 CA408763042	215	I>V		No	ClinGen gnomAD
CA408763032 rs1486780672	216	A>T		No	ClinGen gnomAD
CA9837193 rs754663011	216	A>V		No	ClinGen ExAC gnomAD
CA9837174 rs187009907	220	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9837175 rs746772811	220	R>W		No	ClinGen ExAC TOPMed gnomAD
CA408761287 rs1450055350	222	C>R		No	ClinGen gnomAD
rs1404946897 CA408761239	223	S>T		No	ClinGen gnomAD
CA408761218 rs1270808457	224	S>F		No	ClinGen TOPMed gnomAD
CA408761226 rs1364431178	224	S>P		No	ClinGen TOPMed gnomAD
rs750050040 CA9837172	226	K>R		No	ClinGen ExAC gnomAD
TCGA novel	227	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9837171 rs778599214	227	V>L		No	ClinGen ExAC gnomAD
CA9837170 rs753264672	228	Y>C		No	ClinGen ExAC gnomAD
CA9837169 rs753264672	228	Y>S		No	ClinGen ExAC gnomAD
rs760012458 CA9837167	232	D>H		No	ClinGen ExAC gnomAD
CA9837166 rs751840999	234	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	235	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9837165 rs766638091	237	V>I		No	ClinGen ExAC gnomAD
CA9837164 rs769471454	238	G>Q		No	ClinGen ExAC
CA9837163 rs138646150	242	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA408760680 rs1177994377	245	N>S		No	ClinGen gnomAD
CA408760646 rs1205109701	247	M>V		No	ClinGen TOPMed gnomAD
CA314139544 rs866015383	249	I>V		No	ClinGen gnomAD
CA408760583 rs1196398398	250	D>G		No	ClinGen TOPMed
TCGA novel	251	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1339350428 CA408760551	252	M>I		No	ClinGen gnomAD
rs1243198215 CA408760554	252	M>R		No	ClinGen gnomAD
rs1307342722 CA408760545	253	S>N		No	ClinGen gnomAD
rs776694754 CA9837159	254	I>V		No	ClinGen ExAC gnomAD
rs746867900 CA9837157	260	Y>H		No	ClinGen ExAC gnomAD
rs771955639 CA9837155 COSM124739	261	G>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750700576	264	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9837143 rs758703498	264	G>V		No	ClinGen ExAC gnomAD
rs961509367 CA314193115	265	V>F		No	ClinGen TOPMed gnomAD
rs961509367 CA408781625	265	V>L		No	ClinGen TOPMed gnomAD
CA9837141 rs765440352	268	I>M		No	ClinGen ExAC gnomAD
CA408781606 rs1158684778	268	I>T		No	ClinGen gnomAD
rs112295072 CA314193109	268	I>V		No	ClinGen Ensembl
CA408781599 rs1431813513	269	Y>F		No	ClinGen gnomAD
TCGA novel	270	I>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9837140 rs761988875	270	I>V		No	ClinGen ExAC gnomAD
rs140826239 CA9837139	271	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs764181351 CA9837138	271	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764181351 CA408781587	271	R>L		No	ClinGen ExAC TOPMed gnomAD
rs186014349 CA314193081	272	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs1484599531 CA408781584	272	R>H		No	ClinGen TOPMed gnomAD
CA9837136 rs775505706	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200454792 CA9837137	273	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9837134 rs745650051	275	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9837133 rs148047173 COSM185988	275	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA408781568 rs1568956748	276	V>M		No	ClinGen Ensembl
rs1320185703 CA408781560	277	R>C		No	ClinGen gnomAD
CA9837131 rs748879446	277	R>H		No	ClinGen ExAC gnomAD
rs748879446 CA9837132	277	R>L		No	ClinGen ExAC gnomAD
rs371791586 CA9837130	278	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371791586 CA9837129	278	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470390948 CA408781546	280	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	282	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314193038 rs79014532	282	Q>P		No	ClinGen Ensembl
CA408781525 rs1357286581	283	S>N		No	ClinGen TOPMed gnomAD
rs750751477 CA9837125	285	G>V		No	ClinGen ExAC gnomAD
rs557072001 CA314193007	287	Q>K		No	ClinGen gnomAD
CA408781500 rs1246817403	287	Q>R		No	ClinGen gnomAD
rs994838627 CA314192999	289	R>L		No	ClinGen TOPMed gnomAD
CA408781486 rs994838627	289	R>Q		No	ClinGen TOPMed gnomAD
rs1203932585 CA408781487	289	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408781480 rs1435682209	290	G>D		No	ClinGen TOPMed
rs1339810751 CA408781467	292	R>Q		No	ClinGen TOPMed gnomAD
CA314192986 rs866522271	292	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1271923326 CA408781460	293	S>F		No	ClinGen gnomAD
rs201710322 CA9837122	298	T>A		No	ClinGen 1000Genomes ExAC
rs1225060102 CA408781431	298	T>I		No	ClinGen gnomAD
CA314192983 rs900539798	299	P>H		No	ClinGen TOPMed gnomAD
CA408781424 rs1453693014	300	L>V		No	ClinGen gnomAD
rs1414326659 CA408781394	305	G>R		No	ClinGen gnomAD
TCGA novel	306	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369408026 CA9837120	308	C>S		No	ClinGen ESP ExAC gnomAD
rs1468475004 CA408781359	310	V>E		No	ClinGen TOPMed
rs1468475004 CA408781357	310	V>G		No	ClinGen TOPMed
TCGA novel	312	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314192979 rs147057023	313	Q>H		No	ClinGen ESP TOPMed
CA9837117 rs759444245	315	M>I		No	ClinGen ExAC gnomAD
rs767562334 CA9837118	315	M>T		No	ClinGen ExAC gnomAD
CA9837093 rs141684225	317	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1158797035 CA408781274	320	K>R		No	ClinGen TOPMed
CA9837092 rs375933198	321	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304173469 CA408781254	324	K>Q		No	ClinGen TOPMed
rs1287757251 CA408781243	325	L>W		No	ClinGen gnomAD
TCGA novel	326	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9837088 rs771261417	328	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9837089 rs779420232	328	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408781215 rs1408450931	330	I>V		No	ClinGen gnomAD
CA9837087 rs749662796	333	I>T		No	ClinGen ExAC TOPMed gnomAD
rs372707380 CA314192578	336	S>G		No	ClinGen ESP TOPMed
rs756383218 CA9837085	337	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756383218 CA314192570	337	L>I		No	ClinGen ExAC TOPMed gnomAD
CA9837086 rs756383218	337	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9837084 rs752920072	338	P>Q		No	ClinGen ExAC gnomAD
rs781454506 CA408781147	340	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9837083 rs781454506	340	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1322259732 CA408781141	341	V>M		No	ClinGen gnomAD
TCGA novel	342	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408781135 rs1568956328	342	M>L		No	ClinGen Ensembl
CA9837082 rs755044714	342	M>R		No	ClinGen ExAC gnomAD
rs1480813055 CA408781125	343	N>S		No	ClinGen TOPMed gnomAD
rs1480813055 CA408781126	343	N>T		No	ClinGen TOPMed gnomAD
rs766334538 CA9837080	345	D>H		No	ClinGen ExAC TOPMed gnomAD
CA314192547 rs766334538	345	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1201533715 CA408781107	346	P>R		No	ClinGen gnomAD
CA9837078 rs150826412	346	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs761481451 CA9837076	348	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs907397813 CA314192491	350	Y>F		No	ClinGen Ensembl
rs763462869	351	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1447646012 CA408781069	351	P>L		No	ClinGen gnomAD
CA408781068 rs1226726551	352	G>S		No	ClinGen TOPMed gnomAD
rs1278619412 CA408781032	355	N>S		No	ClinGen gnomAD
CA408781025 rs1192489965	356	L>F		No	ClinGen TOPMed
rs753549696 CA9837057	360	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA408780991 rs1367091532	361	V>A		No	ClinGen gnomAD
CA314192337 rs868788947	363	G>E		No	ClinGen Ensembl
rs760146424 CA9837055	368	M>I		No	ClinGen ExAC gnomAD
rs1433668967 CA408780940	369	A>S		No	ClinGen gnomAD
CA314192317 rs572641899	371	K>R		No	ClinGen 1000Genomes TOPMed
rs1392978446 CA408780922	372	D>N		No	ClinGen TOPMed
CA9837053 rs766892947	373	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1464412372 CA408780893	376	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	377	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408780876 rs1358289397	377	S>L		No	ClinGen gnomAD
CA408780676 rs1490373067	392	L>F		No	ClinGen gnomAD
CA9837029 rs370031949	395	I>T		No	ClinGen ESP ExAC gnomAD
CA9837030 rs777153060	395	I>V		No	ClinGen ExAC gnomAD
rs1220896220 CA408780408	397	T>I		No	ClinGen TOPMed
rs1320790316 CA408780400	398	D>E		No	ClinGen gnomAD
CA9837028 rs760955708	400	D>G		No	ClinGen ExAC
rs1307238664 CA408780389	400	D>Y		No	ClinGen gnomAD
CA408780374 rs144638713	402	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9837025 rs144638713	402	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479561660 CA408780364	404	S>A		No	ClinGen gnomAD
rs1391583286 CA408780359	404	S>F		No	ClinGen gnomAD
CA9837022 rs200432935	406	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1051344207 CA314191765	407	R>K		No	ClinGen gnomAD
rs1051344207 CA408780343	407	R>M		No	ClinGen gnomAD
rs759662480 CA9837006	408	F>C		No	ClinGen ExAC gnomAD
COSM1026289 CA9837005 rs149205059	412	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs375982656 CA9837004	414	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9837001 rs769691160	419	V>A		No	ClinGen ExAC gnomAD
CA9837002 rs747254463	419	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	423	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	425	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408780204 rs1310795443	426	C>R		No	ClinGen TOPMed
CA408780196 rs1267074259	427	I>F		No	ClinGen gnomAD
CA314191179 rs976951908	428	Q>E		No	ClinGen Ensembl
rs371672125 CA9836998	428	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346853111 CA408780168	431	K>T		No	ClinGen gnomAD
CA9836996 rs201504973	432	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201504973 CA9836997	432	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188144557 CA9836995	432	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA314191142 COSM110220 rs142834576	434	R>*	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM341870 rs754453094 CA9836994	434	R>Q	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408780147 rs1405315086	435	E>A		No	ClinGen gnomAD
rs766586663 CA9836969	438	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA408780108 rs1483255052	439	L>V		No	ClinGen gnomAD
rs1335739228 CA408780102	440	W>R		No	ClinGen TOPMed
rs765316595 CA9836966	441	E>Q		No	ClinGen ExAC gnomAD
rs1568953963 CA408780071	444	Q>E		No	ClinGen Ensembl
CA408780060 rs1273951146	445	D>A		No	ClinGen gnomAD
CA408780047 rs1316866157	447	I>T		No	ClinGen TOPMed
CA314189035 rs903261732	447	I>V		No	ClinGen TOPMed
CA314189031 rs958398167	448	D>N		No	ClinGen Ensembl
rs180670660 CA9836962	449	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408780037 rs180670660	449	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408780026 rs1244603249	450	K>N		No	ClinGen gnomAD
CA408780028 rs1282629307	450	K>R		No	ClinGen gnomAD
rs189748482 CA9836961	451	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1310401405 CA408780013	452	I>T		No	ClinGen gnomAD
TCGA novel	453	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145410950 CA9836959	453	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs145410950 CA9836960	453	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA408780004 rs1484322991	454	W>R		No	ClinGen TOPMed
rs370448725 CA9836958	455	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs748620553 CA9836956	457	H>Y		No	ClinGen ExAC gnomAD
CA408779971 rs1411261543	458	H>W		No	ClinGen gnomAD

1 associated diseases with Q9Y697

[MIM: 619386]: Combined oxidative phosphorylation deficiency 52 (COXPD52)

An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. {ECO:0000269|PubMed:24498631, ECO:0000269|PubMed:33457206}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. {ECO:0000269|PubMed:24498631, ECO:0000269|PubMed:33457206}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9Y697

Type	Name	Position	InterPro Accession
domain	Aminotransferase class V domain	60 - 421	IPR000192
binding_site	Aminotransferase class-V, pyridoxal-phosphate binding site	249 - 268	IPR020578

Functions

		Description
EC Number	2.8.1.7	Sulfurtransferases
Subcellular Localization	[Isoform Mitochondrial]: Mitochondrion ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
iron-sulfur cluster assembly complex	A protein complex capable of assembling an iron-sulfur (Fe-S) cluster.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name	Definition
cysteine desulfurase activity	Catalysis of the reaction: L-cysteine
iron-sulfur cluster binding	+Binding to an iron-sulfur cluster, a combination of iron and sulfur atoms.
metal ion binding	Binding to a metal ion.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
pyridoxal phosphate binding	Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6.

5 GO annotations of biological process

Name	Definition
[2Fe-2S] cluster assembly	The incorporation of two iron atoms and two sulfur atoms into an iron-sulfur cluster.
[4Fe-4S] cluster assembly	The incorporation of four iron atoms and four sulfur atoms into an iron-sulfur cluster.
iron incorporation into metallo-sulfur cluster	The incorporation of iron into a metallo-sulfur cluster.
iron-sulfur cluster assembly	The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster.
Mo-molybdopterin cofactor biosynthetic process	The chemical reactions and pathways resulting in the formation of the Mo-molybdopterin cofactor, essential for the catalytic activity of some enzymes. The cofactor consists of a mononuclear molybdenum (Mo) ion coordinated by one or two molybdopterin ligands.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VDS1	SCLY	Selenocysteine lyase	Bos taurus (Bovine)	PR
Q9VKD3	Nfs1	Cysteine desulfurase, mitochondrial	Drosophila melanogaster (Fruit fly)	PR
Q68FT9	Scly	Selenocysteine lyase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLLRAAWRRA	AVAVTAAPGP	KPAAPTRGLR	LRVGDRAPQS	AVPADTAAAP	EVGPVLRPLY
70	80	90	100	110	120
MDVQATTPLD	PRVLDAMLPY	LINYYGNPHS	RTHAYGWESE	AAMERARQQV	ASLIGADPRE
130	140	150	160	170	180
IIFTSGATES	NNIAIKGVAR	FYRSRKKHLI	TTQTEHKCVL	DSCRSLEAEG	FQVTYLPVQK
190	200	210	220	230	240
SGIIDLKELE	AAIQPDTSLV	SVMTVNNEIG	VKQPIAEIGR	ICSSRKVYFH	TDAAQAVGKI
250	260	270	280	290	300
PLDVNDMKID	LMSISGHKIY	GPKGVGAIYI	RRRPRVRVEA	LQSGGGQERG	MRSGTVPTPL
310	320	330	340	350	360
VVGLGAACEV	AQQEMEYDHK	RISKLSERLI	QNIMKSLPDV	VMNGDPKHHY	PGCINLSFAY
370	380	390	400	410	420
VEGESLLMAL	KDVALSSGSA	CTSASLEPSY	VLRAIGTDED	LAHSSIRFGI	GRFTTEEEVD
430	440	450
YTVEKCIQHV	KRLREMSPLW	EMVQDGIDLK	SIKWTQH