AiPD: Autoinhibited Protein Database

Q9H2W6

Gene name	MRPL46 (C15orf4, LIECG2)
Protein name	39S ribosomal protein L46, mitochondrial
Names	L46mt, MRP-L46, Mitochondrial large ribosomal subunit protein mL46, P2ECSL
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26589
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-179 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-179 (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

58 structures for Q9H2W6

Entry ID	Method	Resolution	Chain	Position	Source
3J7Y	EM	340 A	e	1-279	PDB
3J9M	EM	350 A	e	1-279	PDB
5OOL	EM	306 A	e	1-279	PDB
5OOM	EM	303 A	e	1-279	PDB
6I9R	EM	390 A	e	1-279	PDB
6NU2	EM	390 A	e	43-279	PDB
6NU3	EM	440 A	e	1-279	PDB
6VLZ	EM	297 A	e	1-279	PDB
6VMI	EM	296 A	e	1-279	PDB
6ZM5	EM	289 A	e	1-279	PDB
6ZM6	EM	259 A	e	1-279	PDB
6ZS9	EM	400 A	e	1-279	PDB
6ZSA	EM	400 A	e	1-279	PDB
6ZSB	EM	450 A	e	1-279	PDB
6ZSC	EM	350 A	e	1-279	PDB
6ZSD	EM	370 A	e	1-279	PDB
6ZSE	EM	500 A	e	1-279	PDB
6ZSG	EM	400 A	e	1-279	PDB
7A5F	EM	440 A	e3	1-279	PDB
7A5G	EM	433 A	e3	1-279	PDB
7A5H	EM	330 A	e	1-279	PDB
7A5I	EM	370 A	e3	1-279	PDB
7A5J	EM	310 A	e	1-279	PDB
7A5K	EM	370 A	e3	1-279	PDB
7L08	EM	349 A	e	1-279	PDB
7L20	EM	315 A	e	1-279	PDB
7O9K	EM	310 A	e	1-279	PDB
7O9M	EM	250 A	e	1-279	PDB
7ODR	EM	290 A	e	1-279	PDB
7ODS	EM	310 A	e	1-279	PDB
7ODT	EM	310 A	e	1-279	PDB
7OF0	EM	220 A	e	1-279	PDB
7OF2	EM	270 A	e	1-279	PDB
7OF3	EM	270 A	e	1-279	PDB
7OF4	EM	270 A	e	1-279	PDB
7OF5	EM	290 A	e	1-279	PDB
7OF6	EM	260 A	e	1-279	PDB
7OF7	EM	250 A	e	1-279	PDB
7OG4	EM	380 A	e	1-279	PDB
7OI7	EM	350 A	e	1-279	PDB
7OI8	EM	350 A	e	1-279	PDB
7OI9	EM	330 A	e	1-279	PDB
7OIA	EM	320 A	e	1-279	PDB
7OIB	EM	330 A	e	1-279	PDB
7OIC	EM	310 A	e	1-279	PDB
7OID	EM	370 A	e	1-279	PDB
7OIE	EM	350 A	e	1-279	PDB
7PD3	EM	340 A	e	1-279	PDB
7PO4	EM	256 A	e	1-279	PDB
7QI4	EM	221 A	e	1-279	PDB
7QI5	EM	263 A	e	1-279	PDB
7QI6	EM	298 A	e	1-279	PDB
8ANY	EM	285 A	e	1-279	PDB
8OIR	EM	310 A	Bv	1-279	PDB
8OIT	EM	290 A	Bv	1-279	PDB
8PK0	EM	303 A	e	1-279	PDB
8QSJ	EM	300 A	e	1-279	PDB
AF-Q9H2W6-F1	Predicted				AlphaFoldDB

293 variants for Q9H2W6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs193920884 CA174728 RCV000149293	97	R>*	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1303628389 CA393704896	2	A>V		No	ClinGen TOPMed
rs750304273 CA7717730	3	A>V		No	ClinGen ExAC gnomAD
rs1436005214 CA393704871	4	P>L		No	ClinGen gnomAD
CA274454161 rs1002692391	5	V>A		No	ClinGen TOPMed
rs763119816 CA393704869	5	V>I		No	ClinGen ExAC gnomAD
rs763119816 CA7717728	5	V>L		No	ClinGen ExAC gnomAD
CA274454153 rs536183892	6	R>G		No	ClinGen 1000Genomes
CA393704855 rs1196322903	6	R>K		No	ClinGen gnomAD
rs775654947 CA393704844	7	R>G		No	ClinGen ExAC gnomAD
CA393704841 rs1291548255	7	R>Q		No	ClinGen TOPMed gnomAD
rs770146357 CA7717726	8	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1288078794 CA393704826	9	L>M		No	ClinGen TOPMed gnomAD
rs971665839 CA393704821	9	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA274454144 rs971665839	9	L>R		No	ClinGen TOPMed gnomAD
rs1288078794 CA393704828	9	L>V		No	ClinGen TOPMed gnomAD
rs759794566 CA7717725	10	L>*		No	ClinGen ExAC TOPMed gnomAD
CA393704794 rs568047810	11	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA393704800 rs1309535898	11	G>R		No	ClinGen TOPMed gnomAD
CA7717723 rs568047810	11	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA393704783 rs1389330128	12	V>L		No	ClinGen TOPMed gnomAD
CA7717721 rs747593790	13	A>P		No	ClinGen ExAC TOPMed gnomAD
CA393704770 rs747593790	13	A>S		No	ClinGen ExAC TOPMed gnomAD
CA393704773 rs747593790	13	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1475967665 CA393704768	13	A>V		No	ClinGen gnomAD
rs771674829 CA7717719	14	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778323638 CA7717717	15	G>D		No	ClinGen ExAC gnomAD
CA393704718 rs1271327146	17	R>Q		No	ClinGen gnomAD
rs1450985157 CA393704721	17	R>W		No	ClinGen gnomAD
CA274454051 rs373957719	18	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7717715 rs373957719	18	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7717714 rs76585878	19	F>L		No	ClinGen ExAC gnomAD
CA274454046 rs76585878	19	F>V		No	ClinGen ExAC gnomAD
CA7717711 rs556234530	20	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7717712 rs556234530	20	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7717710 rs757194468	21	R>W		No	ClinGen ExAC TOPMed gnomAD
CA393704656 rs1567041428	22	L>F		No	ClinGen Ensembl
rs892773413 CA274454018	22	L>P		No	ClinGen TOPMed
CA274453995 rs866330304	25	G>D		No	ClinGen Ensembl
CA7717708 rs765361853	26	S>G		No	ClinGen ExAC gnomAD
CA7717707 rs759888193	27	L>Q		No	ClinGen ExAC gnomAD
CA7717706 rs776689846	30	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA274453987 rs570537684	30	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7717705 rs570537684	30	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7717703 rs773570970	33	A>V		No	ClinGen ExAC gnomAD
CA393704520 rs1158980179	34	L>F		No	ClinGen gnomAD
CA7717702 rs139502130	35	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs900067445 CA274453951	36	A>P		No	ClinGen TOPMed gnomAD
rs74858286 CA7717701	36	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1247490428 CA393704480	38	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs916728715 CA393704439 CA274453933	40	S>R		No	ClinGen TOPMed gnomAD
rs768130718 CA7717699	42	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	44	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142197784 CA7717697	44	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431852952 CA393704383	45	W>*		No	ClinGen TOPMed
CA393704377 rs781001525	46	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7717693 rs112650205	46	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717694 rs781001525	46	R>S		No	ClinGen ExAC TOPMed gnomAD
CA393704359 rs1296435647	47	L>W		No	ClinGen TOPMed
CA393704329 rs1358492113	49	G>C		No	ClinGen TOPMed
CA7717691 rs765451352	50	A>G		No	ClinGen ExAC gnomAD
rs766526326 CA7717688	51	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7717686 rs529979683	53	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7717687 rs150657556	53	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7717685 rs767817650	54	Q>R		No	ClinGen ExAC gnomAD
rs1486972131 CA393704245	55	R>Q		No	ClinGen TOPMed gnomAD
CA7717683 rs774807032	55	R>W		No	ClinGen ExAC gnomAD
CA393704222 rs1241627135	57	P>L		No	ClinGen TOPMed
CA7717681 rs762357124	58	V>A		No	ClinGen ExAC TOPMed gnomAD
rs762357124 CA393704211	58	V>G		No	ClinGen ExAC TOPMed gnomAD
CA7717677 rs201272217	62	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393704141 rs1397336820	64	T>A		No	ClinGen gnomAD
rs747012714 CA7717675	64	T>I		No	ClinGen ExAC gnomAD
rs747012714 CA393704137	64	T>N		No	ClinGen ExAC gnomAD
rs780137217 CA7717671	66	L>F		No	ClinGen ExAC gnomAD
CA7717670 rs756310544	67	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA393704103 rs756310544	67	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7717669 rs767907802	67	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7717668 rs767907802	67	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs767907802 CA393704099	67	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7717666 rs752118327	68	E>D		No	ClinGen ExAC TOPMed gnomAD
rs147896985 CA7717667	68	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7717665 rs764597330 CA393704067	69	E>D		No	ClinGen ExAC TOPMed gnomAD
CA393704079 rs1406073565	69	E>K		No	ClinGen TOPMed
CA393704054 rs1457148803	70	M>I		No	ClinGen gnomAD
rs763477890 CA7717664	70	M>T		No	ClinGen ExAC gnomAD
rs1168411193 CA393704064	70	M>V		No	ClinGen gnomAD
CA274453704 rs971251555	71	A>P		No	ClinGen TOPMed
rs1438349719 CA393704040	71	A>V		No	ClinGen TOPMed
CA393704000 rs1260024642	75	Q>*		No	ClinGen gnomAD
rs1212093938 CA393703991	75	Q>H		No	ClinGen TOPMed gnomAD
rs1567041250 CA393703997	75	Q>P		No	ClinGen Ensembl
rs1567041250 CA393703995	75	Q>R		No	ClinGen Ensembl
CA7717660 rs759154222	76	Q>R		No	ClinGen ExAC gnomAD
rs904830405 CA274452401	77	I>F		No	ClinGen TOPMed
CA393703442 rs1165842428	77	I>M		No	ClinGen gnomAD
rs769821466 CA393703438	78	E>A		No	ClinGen ExAC gnomAD
rs769821466 CA7717631	78	E>G		No	ClinGen ExAC gnomAD
CA274452388 rs949098366	79	I>T		No	ClinGen TOPMed gnomAD
CA7717630 rs745960252	79	I>V		No	ClinGen ExAC TOPMed gnomAD
CA393703424 rs1420169652	80	E>D		No	ClinGen gnomAD
CA274452376 rs949067402	80	E>Q		No	ClinGen Ensembl
rs1252991856 CA393703422	81	R>G		No	ClinGen gnomAD
rs1598284823 CA393703420	81	R>K		No	ClinGen Ensembl
rs1435630723 CA393703411	82	S>T		No	ClinGen TOPMed
rs757493592 CA7717628	84	Y>C		No	ClinGen ExAC gnomAD
CA7717627 rs769108659	87	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA393703379 rs1476360290	87	H>Y		No	ClinGen TOPMed
CA393703364 rs1462657899	89	L>F		No	ClinGen TOPMed
CA7717625 rs367612805	90	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM282866 CA274452346 rs199889183	90	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA393703340 rs1241002662	93	D>A		No	ClinGen TOPMed gnomAD
rs1355370486 CA393703319	96	Q>*		No	ClinGen TOPMed gnomAD
rs1302514611 CA393703311	97	R>Q		No	ClinGen gnomAD
CA7717624 rs374021666	98	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	100	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755480177 CA7717623	101	K>R		No	ClinGen ExAC TOPMed gnomAD
rs780672377 CA274452331	104	D>H		No	ClinGen Ensembl
CA7717622 rs753434785	105	L>F		No	ClinGen ExAC TOPMed gnomAD
rs760448490 CA7717620	106	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7717621 rs16941888 VAR_052046	106	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772964408 CA7717619	107	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767279556 CA7717618	109	E>G		No	ClinGen ExAC TOPMed gnomAD
CA393703236 rs1172275030	109	E>Q		No	ClinGen gnomAD
CA393703225 rs1324210778	110	D>V		No	ClinGen gnomAD
CA393703210 rs1396341348	112	Q>R		No	ClinGen gnomAD
CA7717617 rs761653778	113	D>N		No	ClinGen ExAC gnomAD
CA274452290 rs966676639	113	D>V		No	ClinGen Ensembl
rs773958589 CA7717616	114	I>V		No	ClinGen ExAC gnomAD
rs370331764 CA274452273	117	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370331764 CA7717615	117	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA393703170 rs1371560575	119	D>N		No	ClinGen TOPMed
rs770968575 CA7717612	123	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1390039107 CA393703130	124	W>G		No	ClinGen gnomAD
CA393703119 rs1174362014	125	E>G		No	ClinGen TOPMed
CA7717611 rs747299453	125	E>Q		No	ClinGen ExAC gnomAD
CA274452201 rs371875842	130	Q>H		No	ClinGen Ensembl
CA7717607 rs376310802	130	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717608 rs376310802	130	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779110941 CA7717606	132	K>I		No	ClinGen ExAC gnomAD
CA274452188 rs527672096	133	L>P		No	ClinGen TOPMed gnomAD
rs755569154 CA7717605	134	G>E		No	ClinGen ExAC gnomAD
CA393703059 rs1355192080	134	G>R		No	ClinGen Ensembl
CA7717604 rs146169028	136	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7717602 rs755678536	136	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7717603 rs755678536	136	R>L		No	ClinGen ExAC gnomAD
rs767211335 CA7717601	137	I>L		No	ClinGen ExAC gnomAD
CA7717599 rs761304644	137	I>T		No	ClinGen ExAC gnomAD
rs767211335 CA7717600	137	I>V		No	ClinGen ExAC gnomAD
TCGA novel	138	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7717575 rs765166427	140	A>G		No	ClinGen ExAC gnomAD
rs759355215 CA7717574	141	D>N		No	ClinGen ExAC gnomAD
rs1598284493 CA393702802	142	E>K		No	ClinGen Ensembl
rs1448582737 CA393702790	143	K>R		No	ClinGen TOPMed
rs1450086165 CA393702774	145	D>G		No	ClinGen gnomAD
TCGA novel	145	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768892557 CA7717572 COSM1478444	146	R>*	Variant assessed as Somatic; 0.0002312 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376377439 CA7717571	146	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7717570 rs774434961	149	L>P		No	ClinGen ExAC TOPMed gnomAD
CA274451600 rs951568470	152	K>R		No	ClinGen gnomAD
CA274451593 rs901925126	153	L>V		No	ClinGen TOPMed
CA274451588 rs866190377	154	D>G		No	ClinGen Ensembl
CA7717568 rs749686160	154	D>N		No	ClinGen ExAC TOPMed gnomAD
CA393702719 rs1456040737	155	R>G		No	ClinGen TOPMed
CA393702700 rs1462715728	157	L>P		No	ClinGen TOPMed gnomAD
CA393702699 rs1462715728	157	L>R		No	ClinGen TOPMed gnomAD
rs373935522 CA7717566	162	R>K		No	ClinGen ESP ExAC gnomAD
CA7717564 rs780795140	163	E>D		No	ClinGen ExAC gnomAD
rs746312832 CA7717565	163	E>K		No	ClinGen ExAC TOPMed gnomAD
CA393702607 rs1321638611	167	D>N		No	ClinGen TOPMed
CA393702603 rs1321638611	167	D>Y		No	ClinGen TOPMed
rs1337067881 CA393702575	169	D>G		No	ClinGen gnomAD
rs369179967 CA7717563	169	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1273393336 CA393702535	172	I>V		No	ClinGen TOPMed gnomAD
rs746732847 CA7717562	173	L>R		No	ClinGen ExAC gnomAD
CA393702522 rs1215733723	173	L>V		No	ClinGen gnomAD
rs201113766 CA7717561	174	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs958978015 CA274451548	174	P>S		No	ClinGen Ensembl
CA393702504 rs1222486282	175	Q>*		No	ClinGen gnomAD
CA393702484 rs1567040238	176	A>E		No	ClinGen Ensembl
rs1280138448 CA393702492	176	A>T		No	ClinGen TOPMed
CA274451502 rs909217264	177	E>V		No	ClinGen TOPMed
rs757976678 CA7717560	178	W>*		No	ClinGen ExAC gnomAD
rs752517070 CA7717559	180	P>A		No	ClinGen ExAC gnomAD
rs764958997 CA7717558	180	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754988149 CA7717557	181	G>E		No	ClinGen ExAC gnomAD
rs1598284411 CA393702406	182	E>G		No	ClinGen Ensembl
CA393702398 rs1598284410	183	T>P		No	ClinGen Ensembl
CA7717555 rs150383187	185	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150383187 CA393702373	185	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	185	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393702352 rs1567040227	187	T>A		No	ClinGen Ensembl
rs761789072 CA7717554	187	T>I		No	ClinGen ExAC gnomAD
rs764417824 CA7717552	188	A>T		No	ClinGen ExAC gnomAD
CA7717550 rs776020811	189	E>A		No	ClinGen ExAC gnomAD
TCGA novel	189	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7717549 rs377122463	190	R>*		No	ClinGen ESP ExAC gnomAD
rs186797200 CA7717548	190	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7717547 rs776988997	191	T>I		No	ClinGen ExAC gnomAD
rs1598284381 CA393702306	191	T>P		No	ClinGen Ensembl
CA7717544 rs777221535	192	L>Q		No	ClinGen ExAC TOPMed
CA393702290 rs1300525588	193	A>P		No	ClinGen gnomAD
rs960559249 CA274451436	193	A>V		No	ClinGen TOPMed
CA7717543 rs758066377	194	T>A		No	ClinGen ExAC TOPMed gnomAD
CA393702270 rs747773332	195	L>F		No	ClinGen ExAC TOPMed gnomAD
rs747773332 CA274451429	195	L>I		No	ClinGen ExAC TOPMed gnomAD
rs778716020 CA7717541	195	L>P		No	ClinGen ExAC gnomAD
CA7717542 rs747773332	195	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7717537 rs766243677	196	S>L		No	ClinGen ExAC gnomAD
CA7717538 rs753874801	196	S>P		No	ClinGen ExAC gnomAD
CA393701681 rs1168478372	197	E>G		No	ClinGen gnomAD
CA393702252 rs1598284358	197	E>K		No	ClinGen Ensembl
CA393701673 rs1467376211	198	N>D		No	ClinGen gnomAD
rs149923755 CA274448253	198	N>T		No	ClinGen ESP
rs1452430592 CA393701658	199	N>K		No	ClinGen TOPMed
rs779860260 CA7717519	199	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7717518 rs756029941	200	M>V		No	ClinGen ExAC gnomAD
rs1223787452 CA393701639	202	A>T		No	ClinGen TOPMed
CA7717517 rs368264703	203	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260095536 CA393701630	203	K>N		No	ClinGen gnomAD
CA7717516 rs368264703	203	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717514 rs758539499	207	N>S		No	ClinGen ExAC gnomAD
TCGA novel	208	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393701590 rs1231782325	210	C>R		No	ClinGen TOPMed gnomAD
rs544918347 CA7717512	210	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs531998570 CA7717510	212	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs765381395 CA7717511	212	H>Y		No	ClinGen ExAC gnomAD
rs1314672053 CA393701564	214	T>P		No	ClinGen gnomAD
rs1405605612 CA393701558	215	F>V		No	ClinGen TOPMed
CA7717507 rs766741187	216	K>R		No	ClinGen ExAC TOPMed gnomAD
CA393701547 rs766741187	216	K>T		No	ClinGen ExAC TOPMed gnomAD
CA393701539 rs564581312	217	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598282974 CA393701543	217	F>I		No	ClinGen Ensembl
CA7717506 rs564581312	217	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	218	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367735118 CA274448168	219	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs983318117 CA274448162	219	Q>H		No	ClinGen Ensembl
rs367735118 CA7717505	219	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs771632952 CA7717504	219	Q>R		No	ClinGen ExAC gnomAD
rs1598282961 CA393701524	220	A>T		No	ClinGen Ensembl
TCGA novel	221	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7717503 rs373706267	221	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717502 rs140277766	222	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7717500 rs572609825	222	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7717501 rs140277766	222	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769680679 CA393701504	223	T>I		No	ClinGen ExAC gnomAD
CA7717498 rs769680679	223	T>R		No	ClinGen ExAC gnomAD
TCGA novel	224	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7717497 rs745858607	224	E>D		No	ClinGen ExAC gnomAD
CA393701483 rs1250703688	226	N>S		No	ClinGen TOPMed gnomAD
CA7717496 rs781290999	227	L>V		No	ClinGen ExAC gnomAD
rs752852980 CA7717494	228	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7717493 rs778999138	230	K>E		No	ClinGen ExAC gnomAD
TCGA novel	230	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304703976 CA393701459	230	K>R		No	ClinGen gnomAD
TCGA novel	230	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555422748 CA7717490	231	V>A		No	ClinGen Ensembl
CA393701456 rs1377681594	231	V>M		No	ClinGen TOPMed gnomAD
rs1176480845 CA393701444	232	F>L		No	ClinGen TOPMed
CA393701449 rs1459049475	232	F>V		No	ClinGen TOPMed
rs1453422356 CA393701406	238	L>P		No	ClinGen gnomAD
rs754055880 CA7717488	238	L>V		No	ClinGen ExAC gnomAD
CA7717486 rs761017773	240	T>A		No	ClinGen ExAC gnomAD
CA274448054 rs1000988299	242	D>E		No	ClinGen Ensembl
CA274448050 rs113945322	243	F>L		No	ClinGen Ensembl
TCGA novel	244	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380346637 CA393701357	246	A>T		No	ClinGen gnomAD
CA7717484 rs768020076	246	A>V		No	ClinGen ExAC gnomAD
rs142867191 CA7717483	247	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs773758237 CA7717482	249	K>N		No	ClinGen ExAC gnomAD
CA7717481 rs767917414	251	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7717480 rs762553714	253	V>M		No	ClinGen ExAC gnomAD
CA393701291 rs1275886459	256	T>A		No	ClinGen gnomAD
rs1283654045 CA393701287	256	T>I		No	ClinGen gnomAD
CA393701282 rs1403013821	257	K>R		No	ClinGen TOPMed
rs769512587 CA7717478	258	D>N		No	ClinGen ExAC gnomAD
rs745662395 CA7717477	260	L>Q		No	ClinGen ExAC gnomAD
CA7717476 rs367961608	261	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717475 rs771013191	263	Y>C		No	ClinGen ExAC gnomAD
rs139566642 CA7717473	264	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs146290179 CA7717472	266	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7717471 rs749527129	267	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA274447957 rs1037411947	268	Y>H		No	ClinGen Ensembl
rs1598282865 CA393701211	268	Y>S		No	ClinGen Ensembl
CA7717469 rs756266228	269	L>Q		No	ClinGen ExAC gnomAD
CA7717466 rs757811126	271	Q>H		No	ClinGen ExAC gnomAD
rs77140264 CA7717465	272	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1199075069 CA393701177	274	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	274	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393701176 rs1199075069	274	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	277	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598282848 CA393701155	277	S>P		No	ClinGen Ensembl
CA393701147 rs1598282847	278	D>A		No	ClinGen Ensembl

No associated diseases with Q9H2W6

2 regional properties for Q9H2W6

Type	Name	Position	InterPro Accession
domain	Ribosomal protein L46, N-terminal	45 - 141	IPR021757
domain	Mitochondrial ribosomal protein L46 NUDIX	144 - 275	IPR033650

Functions

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

5 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
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).
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.

1 GO annotations of molecular function

Name	Definition
structural constituent of ribosome	The action of a molecule that contributes to the structural integrity of the ribosome.

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.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZ22	MRPL46	39S ribosomal protein L46, mitochondrial	Bos taurus (Bovine)	PR
Q9EQI8	Mrpl46	39S ribosomal protein L46, mitochondrial	Mus musculus (Mouse)	PR
Q5RK00	Mrpl46	39S ribosomal protein L46, mitochondrial	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAPVRRTLL	GVAGGWRRFE	RLWAGSLSSR	SLALAAAPSS	NGSPWRLLGA	LCLQRPPVVS
70	80	90	100	110	120
KPLTPLQEEM	ASLLQQIEIE	RSLYSDHELR	ALDENQRLAK	KKADLHDEED	EQDILLAQDL
130	140	150	160	170	180
EDMWEQKFLQ	FKLGARITEA	DEKNDRTSLN	RKLDRNLVLL	VREKFGDQDV	WILPQAEWQP
190	200	210	220	230	240
GETLRGTAER	TLATLSENNM	EAKFLGNAPC	GHYTFKFPQA	MRTESNLGAK	VFFFKALLLT
250	260	270
GDFSQAGNKG	HHVWVTKDEL	GDYLKPKYLA	QVRRFVSDL