AiPD: Autoinhibited Protein Database

Q9NYK5

Gene name	MRPL39 (C21orf92, MRPL5, RPML5)
Protein name	39S ribosomal protein L39, mitochondrial
Names	L39mt, MRP-L39, 39S ribosomal protein L5, mitochondrial, L5mt, MRP-L5, Mitochondrial large ribosomal subunit protein mL39
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54148
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

291-338 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

291-338 (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

61 structures for Q9NYK5

Entry ID	Method	Resolution	Chain	Position	Source
3J7Y	EM	340 A	7	1-338	PDB
3J9M	EM	350 A	7	1-338	PDB
5OOL	EM	306 A	7	1-338	PDB
5OOM	EM	303 A	7	1-338	PDB
6I9R	EM	390 A	7	1-338	PDB
6NU2	EM	390 A	7	36-322	PDB
6NU3	EM	440 A	7	1-338	PDB
6VLZ	EM	297 A	7	1-338	PDB
6VMI	EM	296 A	7	1-338	PDB
6ZM5	EM	289 A	7	1-338	PDB
6ZM6	EM	259 A	7	1-338	PDB
6ZS9	EM	400 A	7	1-338	PDB
6ZSA	EM	400 A	7	1-338	PDB
6ZSB	EM	450 A	7	1-338	PDB
6ZSC	EM	350 A	7	1-338	PDB
6ZSD	EM	370 A	7	1-338	PDB
6ZSE	EM	500 A	7	1-338	PDB
6ZSG	EM	400 A	7	1-338	PDB
7A5F	EM	440 A	73	1-338	PDB
7A5G	EM	433 A	73	1-338	PDB
7A5H	EM	330 A	7	1-338	PDB
7A5I	EM	370 A	73	1-338	PDB
7A5J	EM	310 A	7	1-338	PDB
7A5K	EM	370 A	73	1-338	PDB
7L08	EM	349 A	7	1-338	PDB
7L20	EM	315 A	7	1-338	PDB
7O9K	EM	310 A	7	1-338	PDB
7O9M	EM	250 A	7	1-338	PDB
7ODR	EM	290 A	7	1-338	PDB
7ODS	EM	310 A	7	1-338	PDB
7ODT	EM	310 A	7	1-338	PDB
7OF0	EM	220 A	7	1-338	PDB
7OF2	EM	270 A	7	1-338	PDB
7OF3	EM	270 A	7	1-338	PDB
7OF4	EM	270 A	7	1-338	PDB
7OF5	EM	290 A	7	1-338	PDB
7OF6	EM	260 A	7	1-338	PDB
7OF7	EM	250 A	7	1-338	PDB
7OG4	EM	380 A	7	1-338	PDB
7OI6	EM	570 A	7	1-338	PDB
7OI7	EM	350 A	7	1-338	PDB
7OI8	EM	350 A	7	1-338	PDB
7OI9	EM	330 A	7	1-338	PDB
7OIA	EM	320 A	7	1-338	PDB
7OIB	EM	330 A	7	1-338	PDB
7OIC	EM	310 A	7	1-338	PDB
7OID	EM	370 A	7	1-338	PDB
7OIE	EM	350 A	7	1-338	PDB
7PD3	EM	340 A	7	1-338	PDB
7PO4	EM	256 A	7	1-338	PDB
7QH6	EM	308 A	7	1-338	PDB
7QH7	EM	289 A	7	36-322	PDB
7QI4	EM	221 A	7	1-338	PDB
7QI5	EM	263 A	7	1-338	PDB
7QI6	EM	298 A	7	1-338	PDB
8ANY	EM	285 A	7	1-338	PDB
8OIR	EM	310 A	Bo	1-338	PDB
8OIT	EM	290 A	Bo	1-338	PDB
8PK0	EM	303 A	7	1-338	PDB
8QSJ	EM	300 A	7	1-338	PDB
AF-Q9NYK5-F1	Predicted				AlphaFoldDB

346 variants for Q9NYK5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409803261 rs759523338	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs759523338 CA9986166	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA319126540 rs979580626	4	L>P		No	ClinGen TOPMed
CA9986164 rs148001367	5	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA319126528 rs148001367	5	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409803248 rs1466700728	6	M>I		No	ClinGen gnomAD
rs748277259 CA409803251	6	M>K		No	ClinGen ExAC TOPMed gnomAD
CA9986162 rs146994948	6	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748277259 CA9986160	6	M>R		No	ClinGen ExAC TOPMed gnomAD
CA409803250 rs748277259	6	M>T		No	ClinGen ExAC TOPMed gnomAD
rs146994948 CA9986161	6	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA409803243 rs115649519	7	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9986159 rs115649519	7	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409803237 rs1193511007	8	S>C		No	ClinGen gnomAD
TCGA novel	8	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747586864 CA9986157	9	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9986156 rs780694003	9	R>L		No	ClinGen ExAC TOPMed gnomAD
CA409803233 rs780694003	9	R>P		No	ClinGen ExAC TOPMed gnomAD
CA409803234 rs780694003	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1413482 rs747586864 COSM1413483 CA409803235	9	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1483082950 CA409803232	10	A>T		No	ClinGen TOPMed gnomAD
CA409803226 rs371546191	11	L>M		No	ClinGen ESP gnomAD
CA9986152 rs755816400	11	L>Q		No	ClinGen ExAC gnomAD
CA319126431 rs371546191	11	L>V		No	ClinGen ESP gnomAD
CA409803222 rs1305564188	12	R>Q		No	ClinGen gnomAD
CA9986150 rs780724452	12	R>W		No	ClinGen ExAC TOPMed gnomAD
CA409803216 rs1396387918	13	L>F		No	ClinGen gnomAD
rs367970510 CA9986148	14	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762730702 CA9986146	15	L>P		No	ClinGen ExAC gnomAD
CA409803196 rs1460868285	16	V>G		No	ClinGen gnomAD
rs764890507 CA9986144	16	V>I		No	ClinGen ExAC gnomAD
rs370711679 CA9986140	19	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370711679 CA9986139	19	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA409803180 rs1248969552	19	G>V		No	ClinGen gnomAD
rs772667796 CA9986138	20	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	21	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779386510 CA9986136	22	I>M		No	ClinGen ExAC gnomAD
CA319126270 rs898403613	22	I>V		No	ClinGen TOPMed
rs1196761403 CA409803149	24	W>C		No	ClinGen TOPMed
CA409803154 rs1601387724	24	W>R		No	ClinGen Ensembl
CA9986118 rs772026006	25	R>K		No	ClinGen ExAC gnomAD
TCGA novel	26	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774720183 CA9986116	27	I>M		No	ClinGen ExAC gnomAD
CA9986117 rs760133011	27	I>T		No	ClinGen ExAC gnomAD
rs749663075 CA9986114	28	A>E		No	ClinGen ExAC gnomAD
rs771380688 COSM1029607 CA9986115 COSM1029606	28	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA409803101 rs1568867889	30	S>L		No	ClinGen Ensembl
rs778041725 CA9986113	30	S>P		No	ClinGen ExAC gnomAD
rs3989369 CA409803097	31	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_052041 rs3989369 CA9986111	31	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3989369 CA409803098	31	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9986109 rs757814319	32	A>T		No	ClinGen ExAC gnomAD
rs941112660 CA319125583	33	S>F		No	ClinGen TOPMed
TCGA novel	34	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283147497 CA409803065	36	S>L		No	ClinGen gnomAD
rs757194390 CA9986106	37	P>A		No	ClinGen ExAC gnomAD
rs757194390 CA409803063	37	P>S		No	ClinGen ExAC gnomAD
rs753718075 CA9986105	38	T>A		No	ClinGen ExAC gnomAD
rs763935116 CA409803047	39	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1343159217 CA409803044	40	L>*		No	ClinGen TOPMed gnomAD
rs908329272 CA319125506	43	M>I		No	ClinGen TOPMed
CA409803021 rs1280623903	43	M>T		No	ClinGen TOPMed gnomAD
COSM276119 COSM276120 rs756456682 CA9986103	44	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1401011005 CA409803016	44	R>W		No	ClinGen gnomAD
CA409803013 rs1316499926	45	N>H		No	ClinGen gnomAD
CA409803009 rs1416323667	45	N>S		No	ClinGen gnomAD
rs150397209 CA9986102	47	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs150397209 CA319125497	47	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9986101 rs767706254	48	F>C		No	ClinGen ExAC gnomAD
rs867107880 CA319125492	48	F>L		No	ClinGen TOPMed gnomAD
rs1195692749 CA409802983	49	N>S		No	ClinGen gnomAD
CA409802978 rs1568867781	50	K>E		No	ClinGen Ensembl
rs1475637380 CA409802968	51	E>G		No	ClinGen gnomAD
rs577117194 CA9986100	52	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs774427677 CA9986099	53	A>P		No	ClinGen ExAC TOPMed gnomAD
rs774427677 CA409802956	53	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766797798 CA9986098	53	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	55	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409802908 rs1260583554	60	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746702905 CA9986094	61	R>*		No	ClinGen ExAC TOPMed gnomAD
CA319125471 rs969278422 COSM1029602 COSM1029603	61	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1441821364 CA409802899	62	T>N		No	ClinGen TOPMed
rs369450079 CA9986093	63	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA409802881 rs1258961388	65	I>L		No	ClinGen TOPMed
rs1022217653 CA319125443	65	I>M		No	ClinGen TOPMed
rs745375706 CA9986092	65	I>R		No	ClinGen ExAC gnomAD
rs745375706 CA9986091	65	I>T		No	ClinGen ExAC gnomAD
rs1180916407 CA409802875	66	E>*		No	ClinGen TOPMed
CA9986090 rs778447342	67	V>D		No	ClinGen ExAC gnomAD
CA319125415 rs115482384	69	H>L		No	ClinGen 1000Genomes gnomAD
CA319125419 rs115482384	69	H>R		No	ClinGen 1000Genomes gnomAD
CA9986089 rs757284294	70	V>A		No	ClinGen ExAC gnomAD
CA319125399 rs1011358717	70	V>I		No	ClinGen TOPMed gnomAD
rs199984357 CA9986088	72	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777753931 CA409802821 CA9986087	74	D>E		No	ClinGen ExAC gnomAD
rs755973213 CA9986086	75	P>R		No	ClinGen ExAC gnomAD
rs767642958 CA9986084	76	G>R		No	ClinGen ExAC gnomAD
CA409802815 rs767642958	76	G>S		No	ClinGen ExAC gnomAD
rs755157842 CA9986083	77	T>A		No	ClinGen ExAC gnomAD
rs751618374 CA9986082	77	T>S		No	ClinGen ExAC TOPMed gnomAD
CA409802796 rs1459594900	79	F>C		No	ClinGen gnomAD
rs146812610 CA9986081	79	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9986080 rs143847614	80	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409802776 rs1204587581	82	N>T		No	ClinGen gnomAD
rs773677336 CA9986079	83	K>E		No	ClinGen ExAC gnomAD
rs75377686 CA9986078	84	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1055140705 CA409802756	85	I>F		No	ClinGen gnomAD
TCGA novel	85	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055140705 CA319125327	85	I>V		No	ClinGen gnomAD
rs1360555580 CA409802746	86	S>L		No	ClinGen gnomAD
CA9986077 rs376755024	87	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390435095 CA409802739	88	P>A		No	ClinGen gnomAD
CA409802728 rs1379229763	89	Y>*		No	ClinGen TOPMed gnomAD
rs1332204880 CA409802724	90	S>C		No	ClinGen gnomAD
rs570242707 CA9986076	91	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA9986075 rs373337013	92	A>G		No	ClinGen ESP ExAC gnomAD
rs1406908785 CA409802700	93	M>I		No	ClinGen gnomAD
CA9986074 rs745477473	93	M>T		No	ClinGen ExAC gnomAD
rs1261556391 CA409802674	95	L>F		No	ClinGen TOPMed gnomAD
CA9986056 rs754178594	96	S>N		No	ClinGen ExAC gnomAD
CA319123244 CA409802667 rs374974220	96	S>R		No	ClinGen ESP TOPMed gnomAD
rs764499775 CA9986055	97	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9986053 rs770620551	98	W>*		No	ClinGen ExAC TOPMed gnomAD
rs762562232 CA409802655	98	W>*		No	ClinGen ExAC TOPMed gnomAD
CA9986051 rs762562232	98	W>C		No	ClinGen ExAC TOPMed gnomAD
CA9986052 rs770620551	98	W>S		No	ClinGen ExAC TOPMed gnomAD
CA319123185 rs936188985	100	C>S		No	ClinGen TOPMed gnomAD
CA409802638 rs1402896717	101	R>G		No	ClinGen TOPMed gnomAD
CA319123161 rs148616753	108	V>G		No	ClinGen ESP TOPMed
CA409802593 rs1429526605	108	V>M		No	ClinGen gnomAD
CA409802586 rs1177694786	109	D>A		No	ClinGen gnomAD
CA409802581 rs1342044169	110	G>R		No	ClinGen TOPMed
CA409802571 rs1469845138	111	Q>R		No	ClinGen gnomAD
CA9986046 rs768468951	112	P>H		No	ClinGen ExAC gnomAD
CA319123114 rs897115028	112	P>S		No	ClinGen Ensembl
rs1057147453 CA319123088	113	W>*		No	ClinGen Ensembl
rs780242036 CA9986044	113	W>C		No	ClinGen ExAC gnomAD
rs758557824 COSM1413481 CA9986043 COSM1413480	114	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs905928631 CA319123075	115	M>V		No	ClinGen gnomAD
rs1293017918 CA409802540	116	Y>H		No	ClinGen TOPMed
CA9986040 rs114037138	117	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750533267 CA9986042	117	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9986039 rs370291760	118	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350035607 CA409802509	121	K>E		No	ClinGen TOPMed
CA409802487 rs1217486185	124	E>K		No	ClinGen TOPMed
rs1221540494 CA409802468	126	K>R		No	ClinGen gnomAD
CA9986036 rs115932466	127	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149452993 CA9986035	127	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA409802443 rs1424241507	130	F>C		No	ClinGen TOPMed
CA319122984 rs572029241	131	K>N		No	ClinGen TOPMed gnomAD
CA9986033 rs762658061	136	G>R		No	ClinGen ExAC gnomAD
CA9986032 rs377561797	138	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs377561797 CA409802385	138	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404629778 CA409802387	138	V>M		No	ClinGen gnomAD
CA409802379 rs1464030770	139	N>S		No	ClinGen gnomAD
rs1419727642 CA409802328	144	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9986010 rs147366799	144	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9986008 rs775946967	146	C>*		No	ClinGen ExAC gnomAD
rs761373912 CA409802318	146	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1479541669 CA409802316	146	C>S		No	ClinGen TOPMed gnomAD
rs761373912 CA9986009	146	C>S		No	ClinGen ExAC TOPMed gnomAD
CA409802317 rs1479541669	146	C>Y		No	ClinGen TOPMed gnomAD
rs760557507 CA9986006	147	A>G		No	ClinGen ExAC gnomAD
CA9986007 rs760557507	147	A>V		No	ClinGen ExAC gnomAD
rs1312431773 CA409802306	148	M>T		No	ClinGen gnomAD
rs775312332 CA9986005	148	M>V		No	ClinGen ExAC gnomAD
rs771821203 CA9986004	149	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1229679540 CA409802299	149	M>L		No	ClinGen TOPMed gnomAD
rs1229679540 CA409802300	149	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	150	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299993177 CA409802273	152	C>F		No	ClinGen TOPMed
rs1462605303 CA409802277	152	C>S		No	ClinGen TOPMed
rs1388797930 CA409802270	153	V>M		No	ClinGen TOPMed
rs940793325 CA319120925	154	I>K		No	ClinGen Ensembl
rs746153216 CA9986003	154	I>L		No	ClinGen ExAC gnomAD
rs1273737264 CA409802260	154	I>M		No	ClinGen gnomAD
TCGA novel	156	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601381243 CA409802245	156	R>S		No	ClinGen Ensembl
rs1386431268 CA409802229	159	K>E		No	ClinGen TOPMed
TCGA novel	161	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	161	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9986001 rs200258781	161	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1424392730 CA409802203	162	Y>C		No	ClinGen gnomAD
TCGA novel	163	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9985999 rs777670973	163	M>T		No	ClinGen ExAC gnomAD
rs756670600 CA9985998	164	V>I		No	ClinGen ExAC
CA409802182 rs1225270882	165	N>S		No	ClinGen TOPMed
CA9985997 rs748647592	166	L>S		No	ClinGen ExAC gnomAD
rs755392472 CA9985995	167	V>G		No	ClinGen ExAC gnomAD
rs373638144 CA9985996	167	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750160315 CA9985994	169	A>T		No	ClinGen ExAC gnomAD
CA9985993 rs764958208	169	A>V		No	ClinGen ExAC TOPMed gnomAD
CA409802151 rs1487261555	171	E>K		No	ClinGen TOPMed
TCGA novel	174	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221295654 CA409802130	174	V>I		No	ClinGen TOPMed
rs1272352108 CA409802097	177	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1326122241 CA409802075	180	C>F		No	ClinGen gnomAD
CA9985967 rs534666001	182	D>H		No	ClinGen 1000Genomes ExAC gnomAD
COSM184017 rs572415920 CA9985965 COSM184016	183	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM403774 rs572415920 CA409802056 COSM403775	183	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs73159712 CA9985964	185	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409802030 rs1341324326	186	D>E		No	ClinGen TOPMed
rs1469280301 CA409802017	188	K>R		No	ClinGen gnomAD
rs202074296 CA9985963	189	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9985962 rs374965264	189	L>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	190	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409802004 rs1348387798	190	D>V		No	ClinGen TOPMed
CA9985959 rs751388249	192	W>*		No	ClinGen ExAC gnomAD
rs763280524 CA9985958	193	M>L		No	ClinGen ExAC TOPMed gnomAD
CA9985957 rs763280524	193	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9985956 rs773304757	195	T>A		No	ClinGen ExAC TOPMed gnomAD
rs368567984 CA9985955	196	K>*		No	ClinGen ESP ExAC
rs762000132 CA9985954	196	K>T		No	ClinGen ExAC gnomAD
TCGA novel	197	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751425511 CA9985941	199	L>V		No	ClinGen ExAC gnomAD
CA9985939 rs766266905 COSM3423876 COSM3423875	200	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
COSM1413479 rs762645233 CA9985938 COSM1413478	200	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1471494436 CA409801913	202	F>S		No	ClinGen gnomAD
rs1205754812 CA409801904	203	T>I		No	ClinGen gnomAD
rs1135618 CA409801896 CA409801897	204	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409801891 rs1225182888	205	D>G		No	ClinGen gnomAD
rs1273005118 CA409801893	205	D>Y		No	ClinGen gnomAD
CA9985936 rs765562958	206	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762087901 CA9985935	206	A>V		No	ClinGen ExAC TOPMed gnomAD
CA319117899 rs939269171	207	H>R		No	ClinGen gnomAD
COSM1713867 CA409801881 COSM1713868 rs1226707362	207	H>Y	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9985934 rs770133672	208	A>V		No	ClinGen ExAC TOPMed gnomAD
rs138795236 CA9985933	211	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601377105 CA409801838	213	D>G		No	ClinGen Ensembl
CA409801840 rs1317458548	213	D>Y		No	ClinGen gnomAD
CA319117857 rs980451563	216	F>Y		No	ClinGen Ensembl
rs372389939 CA9985932	217	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772571762 CA9985930	219	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA409801799 rs772571762	219	L>R		No	ClinGen ExAC TOPMed gnomAD
CA409801795 rs1403100655	220	E>A		No	ClinGen gnomAD
CA409801798 rs1162490638	220	E>K		No	ClinGen gnomAD
CA9985929 rs746220810	222	E>K		No	ClinGen ExAC gnomAD
rs774655706 CA409801770	224	K>*		No	ClinGen ExAC TOPMed gnomAD
rs774655706 CA9985928	224	K>E		No	ClinGen ExAC TOPMed gnomAD
CA319117811 rs374660697	224	K>N		No	ClinGen Ensembl
CA409801764 rs1340873474	225	V>L		No	ClinGen Ensembl
TCGA novel	228	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs540774105 CA9985925	232	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA9985924 rs754446498	234	K>R		No	ClinGen ExAC TOPMed gnomAD
CA409801677 rs1385726566	235	Y>C		No	ClinGen gnomAD
CA409801676 rs1385726566	235	Y>F		No	ClinGen gnomAD
CA409801652 rs1339288810	238	D>E		No	ClinGen gnomAD
TCGA novel	238	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409801642 rs1224064718	240	I>L		No	ClinGen TOPMed
rs1029046881 CA319115167	240	I>T		No	ClinGen TOPMed gnomAD
CA319115166 rs988684314	242	E>D		No	ClinGen TOPMed
CA9985903 rs779579414	244	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9985904 rs779579414	244	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9985905 rs779579414	244	A>T		No	ClinGen ExAC TOPMed gnomAD
rs745779114 CA9985901	245	S>F		No	ClinGen ExAC gnomAD
rs778917883 CA9985900	246	Q>*		No	ClinGen ExAC gnomAD
rs1245102946 CA409801601	246	Q>H		No	ClinGen gnomAD
CA409801604 rs1447746489	246	Q>P		No	ClinGen gnomAD
rs1187338357 CA409801593	247	N>K		No	ClinGen TOPMed
CA9985899 rs757104478	248	P>A		No	ClinGen ExAC TOPMed gnomAD
CA409801590 rs757104478	248	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1359902969 CA409801583	249	E>G		No	ClinGen TOPMed
CA319115138 rs770104874	250	R>G		No	ClinGen Ensembl
CA9985897 rs563087022	250	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9985896 rs777861004	251	I>T		No	ClinGen ExAC gnomAD
CA409801562 rs1309000914	252	V>G		No	ClinGen gnomAD
CA9985895 rs375907318	253	K>E		No	ClinGen ESP ExAC gnomAD
CA409801558 rs1227144204	253	K>R		No	ClinGen gnomAD
CA409801547 rs1394036080	255	H>Y		No	ClinGen TOPMed
CA409801537 rs1362569513	256	R>K		No	ClinGen gnomAD
rs143678764 CA9985866	257	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9985867 rs750777135	257	I>V		No	ClinGen ExAC gnomAD
CA9985864 rs148927852	261	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	262	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201146365 CA409801481	263	V>M		No	ClinGen TOPMed
rs1366736969 CA409801472	264	S>N		No	ClinGen gnomAD
CA9985863 rs771566191	266	G>D		No	ClinGen ExAC
CA319114329 rs71317420	267	P>L		No	ClinGen Ensembl
rs1450286896 CA409801452	267	P>S		No	ClinGen TOPMed gnomAD
CA9985862 rs759120077	268	L>V		No	ClinGen ExAC TOPMed gnomAD
rs771011312 CA9985860	269	I>T		No	ClinGen ExAC gnomAD
CA9985861 rs773957937	269	I>V		No	ClinGen ExAC gnomAD
rs765477976 CA409801431	271	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765477976 CA9985858	271	R>T		No	ClinGen ExAC TOPMed gnomAD
rs748379726 CA9985856	272	T>A		No	ClinGen ExAC gnomAD
rs1318101921 CA409801419	273	S>N		No	ClinGen gnomAD
rs1318101921 CA409801418	273	S>T		No	ClinGen gnomAD
CA409801394 rs1408421950	276	F>C		No	ClinGen TOPMed gnomAD
rs891532823 CA319114308	276	F>L		No	ClinGen Ensembl
rs1408421950 CA409801395	276	F>S		No	ClinGen TOPMed gnomAD
rs1347703726 CA409801387	277	Q>L		No	ClinGen gnomAD
rs373302792 CA319114306	278	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373302792 CA9985853	278	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226492009 CA409801372	279	E>D		No	ClinGen TOPMed
TCGA novel	282	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9985851 rs758955118	283	V>I		No	ClinGen ExAC gnomAD
CA9985850 rs539496260	285	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs373007249 CA409801320	287	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9985848 rs757653220	289	T>P		No	ClinGen ExAC gnomAD
CA9985846 rs767308986	291	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409801296 rs767308986	291	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9985847 rs369389125	291	P>T		No	ClinGen ESP ExAC gnomAD
CA409801294 rs1224200048	292	S>G		No	ClinGen TOPMed
rs1601372363 CA409801275	294	I>M		No	ClinGen Ensembl
rs1454252226 CA409801277	294	I>T		No	ClinGen Ensembl
CA9985843 rs61735761	295	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9985842 rs762862328	295	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409801271 rs1206402087	296	R>G		No	ClinGen TOPMed gnomAD
CA9985841 rs372006779	297	F>S		No	ClinGen ESP ExAC gnomAD
rs1268058299 CA409801248	299	G>S		No	ClinGen gnomAD
rs1227035820 CA409801246	299	G>V		No	ClinGen gnomAD
CA9985838 rs115668266	300	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9985839 rs115668266	300	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9985836 rs747211125	301	S>C		No	ClinGen ExAC gnomAD
rs115023280 CA9985835	303	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9985810 rs778345316	309	H>Q		No	ClinGen ExAC gnomAD
CA409801166 rs1435576620	310	F>S		No	ClinGen TOPMed
CA9985809 rs756530637	310	F>V		No	ClinGen ExAC gnomAD
CA9985808 rs374575344	312	I>L		No	ClinGen ESP ExAC gnomAD
rs1313217971 CA409801153	312	I>T		No	ClinGen TOPMed
CA319111312 rs374575344	312	I>V		No	ClinGen ESP ExAC gnomAD
CA319111295 rs1043687838	313	W>*		No	ClinGen TOPMed
rs1439904869 CA409801141	314	D>G		No	ClinGen TOPMed
rs779859677 CA9985807	314	D>H		No	ClinGen ExAC gnomAD
CA409801139 rs1439904869	314	D>V		No	ClinGen TOPMed
rs1441171818 CA409801128	316	L>I		No	ClinGen gnomAD
CA409801115 rs1373424689	318	E>Q		No	ClinGen TOPMed
CA9985804 rs749974885	319	R>G		No	ClinGen ExAC TOPMed gnomAD
CA409801105 rs1341792027	319	R>I		No	ClinGen gnomAD
CA9985803 rs764631448	320	S>F		No	ClinGen ExAC gnomAD
rs1383562052 CA409801096	321	R>L		No	ClinGen gnomAD
rs1383562052 CA409801094	321	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761850143 CA9985802	321	R>W		No	ClinGen ExAC gnomAD
rs753772257 CA9985801	323	M>I		No	ClinGen ExAC gnomAD
CA409800862 rs1568858457	325	T>I		No	ClinGen Ensembl
rs1236721212 CA409800849	327	D>A		No	ClinGen gnomAD
rs780993013 CA9985738	327	D>N		No	ClinGen ExAC gnomAD
TCGA novel	330	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142513484 CA9985736	331	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766178897 CA9985735	335	C>Y		No	ClinGen ExAC gnomAD
CA9985733 rs750671064	336	T>A		No	ClinGen ExAC gnomAD
TCGA novel	336	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366011632 CA409800782	336	T>K		No	ClinGen TOPMed
CA9985732 rs765472711	337	S>Y		No	ClinGen ExAC gnomAD
rs939487598 CA319109101	338	T>A		No	ClinGen TOPMed
CA9985730 rs776709156	339	T>Q		No	ClinGen ExAC

1 associated diseases with Q9NYK5

[MIM: 611523]: Pontocerebellar hypoplasia 6 (PCH6)

A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269|PubMed:17847012}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. {ECO:0000269|PubMed:17847012}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9NYK5

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	134 - 145	IPR001412
domain	DALR anticodon binding	463 - 578	IPR008909
domain	Arginyl-tRNA synthetase, catalytic core domain	123 - 449	IPR035684

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial large ribosomal subunit	The larger of the two subunits of a mitochondrial ribosome. Two sites on the ribosomal large subunit are involved in translation: the aminoacyl site (A site) and peptidyl site (P site).
mitochondrial ribosome	A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes.
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.

2 GO annotations of molecular function

Name	Definition
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.
RNA binding	Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name	Definition
mitochondrial translation	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QNM8	TARS3	Threonine--tRNA ligase 2, cytoplasmic	Bos taurus (Bovine)	PR
P26639	TARS1	Threonine--tRNA ligase 1, cytoplasmic	Homo sapiens (Human)	PR
Q3UQ84	Tars2	Threonine--tRNA ligase, mitochondrial	Mus musculus (Mouse)	PR
Q9D0R2	Tars1	Threonine--tRNA ligase 1, cytoplasmic	Mus musculus (Mouse)	PR
Q9JKF7	Mrpl39	39S ribosomal protein L39, mitochondrial	Mus musculus (Mouse)	PR
Q68FW7	Tars2	Threonine--tRNA ligase, mitochondrial	Rattus norvegicus (Rat)	PR
Q8GZ45	At1g17960	Probable threonine--tRNA ligase, cytoplasmic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEALAMGSRA	LRLWLVAPGG	GIKWRFIATS	SASQLSPTEL	TEMRNDLFNK	EKARQLSLTP
70	80	90	100	110	120
RTEKIEVKHV	GKTDPGTVFV	MNKNISTPYS	CAMHLSEWYC	RKSILALVDG	QPWDMYKPLT
130	140	150	160	170	180
KSCEIKFLTF	KDCDPGEVNK	AYWRSCAMMM	GCVIERAFKD	EYMVNLVRAP	EVPVISGAFC
190	200	210	220	230	240
YDVVLDSKLD	EWMPTKENLR	SFTKDAHALI	YKDLPFETLE	VEAKVALEIF	QHSKYKVDFI
250	260	270	280	290	300
EEKASQNPER	IVKLHRIGDF	IDVSEGPLIP	RTSICFQYEV	SAVHNLQPTQ	PSLIRRFQGV
310	320	330
SLPVHLRAHF	TIWDKLLERS	RKMVTEDQSK	ATEECTST