AiPD: Autoinhibited Protein Database

Q9H7H0

Gene name	METTL17 (METT11D1)
Protein name	Methyltransferase-like protein 17, mitochondrial
Names	False p73 target gene protein, Methyltransferase 11 domain-containing protein 1, Protein RSM22 homolog, mitochondrial
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64745
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-155 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-155 (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

7 structures for Q9H7H0

Entry ID	Method	Resolution	Chain	Position	Source
8CSP	EM	266 A	7	1-456	PDB
8CSQ	EM	254 A	7	1-456	PDB
8CSR	EM	254 A	7	1-456	PDB
8CSS	EM	236 A	7	1-456	PDB
8CST	EM	285 A	7	1-456	PDB
8CSU	EM	303 A	7	1-456	PDB
AF-Q9H7H0-F1	Predicted				AlphaFoldDB

388 variants for Q9H7H0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7084165 rs765603508	3	A>P		No	ClinGen ExAC TOPMed
CA7084166 rs199931736	3	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA389148467 rs1489455902	4	A>G		No	ClinGen gnomAD
CA7084167 rs373355373	4	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424963218 CA389148472	5	L>P		No	ClinGen gnomAD
CA7084169 rs752124334	5	L>V		No	ClinGen ExAC gnomAD
CA389148482 rs755393905	7	C>R		No	ClinGen ExAC gnomAD
CA7084170 rs755393905	7	C>S		No	ClinGen ExAC gnomAD
CA7084171 rs140652112	7	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257468050 rs971193102	9	L>P		No	ClinGen TOPMed gnomAD
rs971193102 CA389148495	9	L>Q		No	ClinGen TOPMed gnomAD
CA389148504 rs1359747560	11	L>*		No	ClinGen TOPMed gnomAD
rs778595407 CA7084174	11	L>I		No	ClinGen ExAC gnomAD
rs778595407 CA389148503	11	L>V		No	ClinGen ExAC gnomAD
rs745516047 CA389148512	12	G>A		No	ClinGen ExAC TOPMed gnomAD
rs745516047 CA7084175	12	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1242726694 CA389148532	15	C>R		No	ClinGen TOPMed
rs1338807009 CA389148542	16	P>R		No	ClinGen gnomAD
rs201439079 CA257468064	16	P>S		No	ClinGen Ensembl
CA7084180 rs776606513	18	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389148574 rs1594338160	20	V>G		No	ClinGen Ensembl
rs1285755807 CA389148579	21	A>T		No	ClinGen gnomAD
CA389148590 rs1404198058	22	P>L		No	ClinGen gnomAD
rs769704814 CA7084182	22	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389148596 rs1594338183	23	Q>P		No	ClinGen Ensembl
CA257468089 rs1026217971	24	A>G		No	ClinGen Ensembl
TCGA novel	24	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389148614 rs1594338194	25	R>P		No	ClinGen Ensembl
CA7084219 rs377679401	26	A>G		No	ClinGen ESP ExAC gnomAD
rs754448587 CA389148946	26	A>P		No	ClinGen ExAC gnomAD
rs754448587 CA7084218	26	A>T		No	ClinGen ExAC gnomAD
rs377679401 CA7084220	26	A>V		No	ClinGen ESP ExAC gnomAD
CA389148962 rs1198122942	29	A>P		No	ClinGen TOPMed
CA7084224 rs199730461	31	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084227 rs532257707	33	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA389148985 rs1169915074	33	G>R		No	ClinGen gnomAD
rs532257707 CA257468367	33	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs779074004 CA7084229	34	V>M		No	ClinGen ExAC gnomAD
rs1566430586 CA389149008	37	V>I		No	ClinGen Ensembl
rs746037453 CA7084230	39	N>D		No	ClinGen ExAC gnomAD
CA389149027 rs1401032231	39	N>K		No	ClinGen TOPMed gnomAD
CA7084231 rs777812305 COSM312840	39	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7084233 rs371540270	42	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084232 rs371540270	42	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084234 rs769200111	44	L>R		No	ClinGen ExAC gnomAD
CA389149062 rs1216246671	45	Q>R		No	ClinGen gnomAD
CA7084236 rs144424590	46	K>N		No	ClinGen ESP ExAC gnomAD
CA7084237 rs146684916	47	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263356383 CA389149079	48	P>T		No	ClinGen gnomAD
rs1017452497 CA257468450	49	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA389149093 rs1566430632	50	R>C		No	ClinGen Ensembl
rs751182257 CA7084238	53	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1217147907 CA389149116	53	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA389149118 rs1217147907	53	P>L		No	ClinGen TOPMed gnomAD
COSM1707132 rs751182257 CA389149115	53	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1174458618 CA389149121	54	G>D		No	ClinGen TOPMed
CA7084239 rs552092236	54	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs994662645 CA257468480	57	K>T		No	ClinGen Ensembl
CA257468495 rs974356738	59	P>L		No	ClinGen TOPMed gnomAD
TCGA novel rs11538172 CA7084240	61	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs11538172 CA257468510	61	V>M		No	ClinGen ExAC TOPMed gnomAD
CA389149167 rs1456813208	62	R>Q		No	ClinGen TOPMed
rs981752320 CA257468545	64	P>L		No	ClinGen TOPMed gnomAD
rs1420677715 CA389149175	64	P>S		No	ClinGen TOPMed gnomAD
CA389149185 rs1594338625	65	Q>P		No	ClinGen Ensembl
rs1300503595 CA389149188	66	A>T		No	ClinGen gnomAD
CA7084245 rs376694863	66	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084246 rs778713008	68	A>G		No	ClinGen ExAC gnomAD
CA389149199 rs1430657701	68	A>P		No	ClinGen gnomAD
CA7084248 rs185541099	69	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389149207 rs780226255	69	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7084247 rs185541099	69	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310124289 CA389149209	70	G>S		No	ClinGen gnomAD
CA389149223 rs1240520499	72	Q>*		No	ClinGen gnomAD
CA389149224 rs199817158	72	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199817158 CA7084251	72	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1411402239 CA389149233	73	L>F		No	ClinGen gnomAD
rs756939883 CA257468601	76	L>I		No	ClinGen TOPMed
CA389149250 rs1594338710	76	L>P		No	ClinGen Ensembl
rs1243437446 CA389149280	79	A>G		No	ClinGen TOPMed
CA7084279 rs760348148	79	A>S		No	ClinGen ExAC gnomAD
CA257468738 rs768796232	81	P>A		No	ClinGen gnomAD
rs768796232 CA389149288	81	P>T		No	ClinGen gnomAD
CA257468742 rs1051113312	82	T>A		No	ClinGen TOPMed gnomAD
CA389149301 rs1333678999	83	M>T		No	ClinGen gnomAD
CA7084281 rs763720410	83	M>V		No	ClinGen ExAC gnomAD
CA7084282 rs145113570	86	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750322796 CA7084285	87	V>G		No	ClinGen ExAC TOPMed gnomAD
rs765277580 CA7084284	87	V>M		No	ClinGen ExAC TOPMed gnomAD
CA389149338 rs1262540724	88	Q>L		No	ClinGen gnomAD
CA7084286 rs758191043	89	T>A		No	ClinGen ExAC gnomAD
rs1274152776 CA389149345	89	T>I		No	ClinGen TOPMed gnomAD
CA7084288 rs533799216	92	S>R		No	ClinGen ExAC gnomAD
rs150336140 CA7084289 COSM3690005 COSM3690006	92	S>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs781243032 CA7084290	93	Y>C		No	ClinGen ExAC gnomAD
CA257468826 rs866408428	94	L>F		No	ClinGen TOPMed gnomAD
CA389149404 rs1425035567	98	H>L		No	ClinGen gnomAD
rs1477853752 CA389149415	100	P>S		No	ClinGen gnomAD
CA389149420 rs1172277133	101	V>I		No	ClinGen gnomAD
CA7084292 rs375799989	105	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs778412281 CA7084293	106	L>S		No	ClinGen ExAC gnomAD
rs1366855409 CA389149481	110	A>P		No	ClinGen TOPMed
CA7084294 rs749690873	111	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7084295 rs200675553	113	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs906901293 CA257468840	114	E>A		No	ClinGen TOPMed
rs1186430558 CA389149509	114	E>Q		No	ClinGen Ensembl
CA389149546 COSM954316 rs1268509911	117	F>I	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1285487468 CA389149590	120	N>K		No	ClinGen TOPMed
rs768470407 CA7084299	122	D>N		No	ClinGen ExAC gnomAD
rs768470407 CA7084300	122	D>Y		No	ClinGen ExAC gnomAD
rs1324842213 CA389149669	123	L>V		No	ClinGen TOPMed gnomAD
CA7084323 rs532998759	124	S>P		No	ClinGen ExAC TOPMed gnomAD
rs774261633 CA7084324	125	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	126	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389149687 rs1396672541	126	T>P		No	ClinGen TOPMed gnomAD
rs1396672541 CA389149689	126	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	127	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257469854 rs771684327	131	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7084325 rs372378102	131	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs149042340 CA7084326	132	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084327 rs752978543	133	A>T		No	ClinGen ExAC gnomAD
CA7084331 rs757398066	136	H>L		No	ClinGen ExAC gnomAD
rs779630076 CA389149753	136	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7084330 rs754017961	136	H>Y		No	ClinGen ExAC gnomAD
rs373930841 CA257469895	137	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373930841 CA7084333	137	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758799005 CA7084334	138	L>P		No	ClinGen ExAC TOPMed gnomAD
CA389149764 rs1391008140	139	R>C		No	ClinGen TOPMed
rs1420642568 CA389149767	139	R>H		No	ClinGen TOPMed gnomAD
rs922358792 CA257469901	140	K>E		No	ClinGen TOPMed gnomAD
CA389149780 rs1265490452	141	T>S		No	ClinGen gnomAD
CA389149786 rs1179480410	142	T>I		No	ClinGen gnomAD
rs865913067 CA257469913	144	H>N		No	ClinGen gnomAD
CA7084349 rs200172753 CA389149850	149	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1460680255 CA389149854	150	Y>C		No	ClinGen gnomAD
rs761988002 CA7084351	150	Y>D		No	ClinGen ExAC gnomAD
rs761988002 CA7084350	150	Y>H		No	ClinGen ExAC gnomAD
rs1388941532 CA389149866	152	E>G		No	ClinGen gnomAD
rs758787257 CA7084354 COSM432820	152	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7084356 rs751915309	153	G>V		No	ClinGen ExAC
rs1291841708 CA389149892	156	L>R		No	ClinGen TOPMed
CA389149903 rs1278290888	158	Y>C		No	ClinGen gnomAD
CA389149926 rs1341594482	161	A>G		No	ClinGen TOPMed
CA7084361 rs146111157	162	R>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA389149931 rs1566431917	162	R>T		No	ClinGen Ensembl
rs965247681 CA257470213	164	D>V		No	ClinGen Ensembl
CA389149946 rs1488671881	165	G>S		No	ClinGen gnomAD
CA257470248 rs74940650	168	A>S		No	ClinGen Ensembl
rs977977813 CA257470252	169	A>V		No	ClinGen TOPMed gnomAD
CA7084364 rs771946087	171	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7084365 VAR_072388 rs72661115	173	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA389149994 rs72661115	173	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746844600 CA7084366	175	H>R		No	ClinGen ExAC gnomAD
rs1426945526 CA389150021	176	E>D		No	ClinGen TOPMed gnomAD
CA389150377 rs1344006965	177	I>N		No	ClinGen gnomAD
CA7084385 rs34207344	178	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372199500 CA7084384	178	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs11538173 CA257470485	179	A>S		No	ClinGen Ensembl
rs578104794 CA7084387	180	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7084388 rs578104794	180	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7084389 rs188874835	180	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs144245947 CA257470492 COSM110005	182	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs140536845 CA257470489 COSM109335	182	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs770980027 CA7084391	183	A>G		No	ClinGen ExAC gnomAD
rs1462790023 CA389150449	188	T>S		No	ClinGen gnomAD
CA389150458 rs1342964352	189	L>W		No	ClinGen TOPMed
rs749651839 CA257470501	195	G>V		No	ClinGen gnomAD
rs769182446 CA7084395	196	T>A		No	ClinGen ExAC gnomAD
CA389150557 rs1406337660	198	S>C		No	ClinGen TOPMed gnomAD
CA7084398 rs750021984	201	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7084416 rs374656210	201	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs750021984 CA389150586	201	W>L		No	ClinGen ExAC TOPMed gnomAD
CA389150579 rs1157687148	201	W>R		No	ClinGen gnomAD
CA7084417 rs762622161	203	A>T		No	ClinGen ExAC gnomAD
CA7084418 rs750047391	204	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs754520703 CA7084420	205	S>G		No	ClinGen ExAC gnomAD
COSM954317 rs781343851 CA7084421	205	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752617524 CA7084422	207	W>*		No	ClinGen ExAC
rs1461513901 CA389150712	208	G>D		No	ClinGen TOPMed
rs148101767 CA7084423	210	S>G		No	ClinGen ESP ExAC gnomAD
rs902036799 CA257471163	212	R>C		No	ClinGen TOPMed gnomAD
rs141889474 CA7084424	212	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389150745 rs902036799	212	R>S		No	ClinGen TOPMed gnomAD
rs1262854225 CA389150794	216	C>R		No	ClinGen TOPMed
CA389150809 rs1305247474	217	V>A		No	ClinGen TOPMed gnomAD
rs749504491 CA7084425	218	D>A		No	ClinGen ExAC gnomAD
rs771229233 CA7084426	218	D>E		No	ClinGen ExAC
CA7084427 rs373340733	219	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373340733 CA7084428	219	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772070538 CA7084429	220	S>A		No	ClinGen ExAC gnomAD
rs772070538 CA257471185	220	S>T		No	ClinGen ExAC gnomAD
rs868210799 CA257471189	222	A>D		No	ClinGen Ensembl
CA389150864 rs1428029313	223	M>T		No	ClinGen TOPMed gnomAD
CA389150881 rs1475477076	225	V>I		No	ClinGen gnomAD
CA7084431 rs747463030	229	K>E		No	ClinGen ExAC gnomAD
CA389150928 rs1454605361	229	K>T		No	ClinGen TOPMed
rs780065442 CA7084448	233	G>A		No	ClinGen ExAC TOPMed gnomAD
CA389150984 rs1566433536	234	G>S		No	ClinGen Ensembl
CA389150993 rs1566433543	235	S>L		No	ClinGen Ensembl
rs1594343086 CA389151018	238	G>E		No	ClinGen Ensembl
rs747056076 CA7084451	240	P>H		No	ClinGen ExAC TOPMed gnomAD
rs867352967 CA257471434	240	P>T		No	ClinGen Ensembl
rs1245772011 CA389151054	242	I>V		No	ClinGen gnomAD
CA389151062 rs1317474318	243	P>T		No	ClinGen TOPMed
rs1206323751 CA389151076	244	G>A		No	ClinGen gnomAD
rs1353470200 CA389151072	244	G>C		No	ClinGen gnomAD
TCGA novel	247	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464128463 CA389151141	250	F>S		No	ClinGen gnomAD
CA389151164 rs1244657755	253	V>I		No	ClinGen gnomAD
CA7084453 rs776990635	255	P>L		No	ClinGen ExAC gnomAD
rs373783758 CA7084471	257	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770217774 CA7084473	258	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA389151492 rs770217774	258	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA257471561 rs181441006	260	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs778243502 CA7084474 COSM220033	261	V>I	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1346702338 CA389151526	263	V>L		No	ClinGen gnomAD
rs1346702338 CA389151525	263	V>M		No	ClinGen gnomAD
rs1284676570 CA389151547	266	F>C		No	ClinGen TOPMed gnomAD
rs1021562044 CA257471570	269	S>R		No	ClinGen Ensembl
rs1252541686 CA389151583	271	L>R		No	ClinGen TOPMed
rs1232042682 CA389151603	274	K>N		No	ClinGen gnomAD
CA7084476 rs771904257	274	K>Q		No	ClinGen ExAC gnomAD
rs151177426 CA7084477	277	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084478 rs149778840	277	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149778840 CA389151622	277	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084479 rs200724162	278	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1201623328 CA389151674	285	W>*		No	ClinGen gnomAD
CA7084481 rs776649779	285	W>G		No	ClinGen ExAC gnomAD
CA389151669 rs776649779	285	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7084482 rs146385179	286	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084483 rs139767232	286	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA389151677 rs146385179	286	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs878967872 CA257471597	288	T>I		No	ClinGen Ensembl
VAR_037422 rs2297717 CA7084486	289	G>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	289	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2297717 CA389151698	289	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084487 rs751665077	291	F>L		No	ClinGen ExAC TOPMed gnomAD
CA389151710 rs1429692658	291	F>Y		No	ClinGen TOPMed
CA257471706 rs762782904	297	N>S		No	ClinGen gnomAD
CA389151778 rs1446819988	300	K>R		No	ClinGen gnomAD
rs1182134742 CA389151789	302	G>R		No	ClinGen gnomAD
CA389151798 rs1444893357	303	H>R		No	ClinGen TOPMed
rs1413627925 CA389151795	303	H>Y		No	ClinGen gnomAD
rs1190549720 CA389151812	305	L>F		No	ClinGen TOPMed
CA7084511 rs757713268	307	M>L		No	ClinGen ExAC gnomAD
CA7084512 rs779104686	307	M>R		No	ClinGen ExAC TOPMed gnomAD
rs149202602 CA7084513	308	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754630753 CA7084514	311	D>N		No	ClinGen ExAC gnomAD
CA389151853 rs1406447493	311	D>V		No	ClinGen gnomAD
CA7084515 rs780881064	313	V>A		No	ClinGen ExAC gnomAD
CA257471722 rs1032811094	314	L>F		No	ClinGen TOPMed gnomAD
CA7084518 rs200068688	315	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748767417 CA7084539	318	E>G		No	ClinGen ExAC
TCGA novel	318	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7084541 rs142555446	319	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268943082 CA389151928	321	P>L		No	ClinGen gnomAD
rs369657268 CA7084543	321	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389151930 rs1481161773	322	L>M		No	ClinGen gnomAD
rs1566434488 CA389151940	323	D>G		No	ClinGen Ensembl
CA257472021 rs374333448	324	P>L		No	ClinGen gnomAD
CA7084544 rs771838341	324	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7084546 rs760934498	325	R>*		No	ClinGen ExAC gnomAD
CA257472029 rs946705210	325	R>P		No	ClinGen TOPMed gnomAD
CA257472028 rs946705210	325	R>Q		No	ClinGen TOPMed gnomAD
rs764376911 CA7084547	326	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7084548 rs111441403	329	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA257472036 rs924037252	329	V>I		No	ClinGen gnomAD
CA7084550 rs145785990	331	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA389151989 rs553466636	332	P>L		No	ClinGen gnomAD
CA257472048 rs553466636	332	P>R		No	ClinGen gnomAD
CA7084551 rs750874778	332	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1207498108 CA389152008	333	C>*		No	ClinGen TOPMed gnomAD
CA389152010 rs1288560571	334	P>S		No	ClinGen gnomAD
rs1566434700 COSM182742 CA389152020	335	H>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	336	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389152034 rs1210183195	337	L>F		No	ClinGen gnomAD
CA7084576 rs763803551	340	P>H		No	ClinGen ExAC TOPMed gnomAD
CA389152055 rs763803551	340	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7084575 rs759881123	340	P>S		No	ClinGen ExAC gnomAD
rs1386952494 CA389152062	341	Q>H		No	ClinGen gnomAD
CA257472146 rs35308618	342	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1162632908 CA389152072	343	T>A		No	ClinGen gnomAD
CA7084578 rs138115606	344	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA257472165 VAR_037423 rs2771350	346	A>P		No	ClinGen UniProt Ensembl dbSNP
rs2771350 CA389152088	346	A>T		No	ClinGen Ensembl
rs374364678 CA257472170	347	C>Y		No	ClinGen ESP TOPMed gnomAD
CA389152104 rs1388190302	348	S>T		No	ClinGen gnomAD
rs750361722 CA7084580	351	Q>R		No	ClinGen ExAC gnomAD
CA389152132 rs758407608	352	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7084581 rs758407608	352	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs911294390 CA257472177	353	Y>H		No	ClinGen TOPMed
TCGA novel	354	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7084585 rs781577207	355	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7084586 rs748352106	356	I>F		No	ClinGen ExAC gnomAD
rs769793149 CA7084587	357	P>L		No	ClinGen ExAC gnomAD
rs1038809195 CA257472180	359	S>I		No	ClinGen Ensembl
CA7084614 rs746327019	361	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7084615 rs775966929 COSM1662748	362	K>E	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7084616 rs368007919	364	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084618 rs772670994	368	K>*		No	ClinGen ExAC gnomAD
CA7084619 rs762562455	368	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1172027900 CA389152263	369	F>L		No	ClinGen TOPMed
CA389152268 rs1232200290	370	S>C		No	ClinGen TOPMed gnomAD
CA389152269 rs1232200290	370	S>F		No	ClinGen TOPMed gnomAD
rs200883253 CA7084620	371	M>V		No	ClinGen ExAC TOPMed gnomAD
rs751575961 CA7084621	372	V>M		No	ClinGen ExAC gnomAD
rs955441567 CA257472280	375	A>P		No	ClinGen TOPMed gnomAD
CA7084622 rs755005939	376	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA389152312 rs1273908233	376	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7084624 rs752596208	377	G>E		No	ClinGen ExAC TOPMed gnomAD
CA389152321 rs767539717 CA7084623	377	G>R		No	ClinGen ExAC TOPMed gnomAD
CA389152326 rs752596208	377	G>V		No	ClinGen ExAC TOPMed gnomAD
CA389152319 rs767539717	377	G>W		No	ClinGen ExAC TOPMed gnomAD
rs371718317 CA7084627	379	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	379	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321281227 CA389152358	380	E>G		No	ClinGen TOPMed
CA389152375 rs1448110392	381	E>D		No	ClinGen gnomAD
rs1168503094 CA389152381	382	A>S		No	ClinGen TOPMed gnomAD
rs778926586 CA7084629	383	H>R		No	ClinGen ExAC gnomAD
CA7084628 rs757352710	383	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7084630 rs745920702	384	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7084631 rs375740638	384	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1448459732 CA389152429	386	P>S		No	ClinGen TOPMed
rs1385842052 CA389152442	387	R>C		No	ClinGen gnomAD
COSM552598 CA7084632 rs775852895	387	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA257472311 rs868295316	393	L>F		No	ClinGen Ensembl
CA7084634 rs367745934	395	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7084633 rs148330410	395	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA389152541 rs1174801406	396	P>L		No	ClinGen TOPMed
CA389152536 rs1423744626	396	P>S		No	ClinGen TOPMed
COSM182743 CA7084635 rs772938639	397	R>C	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs570437599 CA7084636	397	R>H		No	ClinGen ExAC TOPMed gnomAD
CA389152552 rs1223802188	398	H>Y		No	ClinGen gnomAD
rs1430844163 CA389152575	399	V>G		No	ClinGen Ensembl
rs1263791287 CA389152568	399	V>L		No	ClinGen gnomAD
CA389152582 rs1177011278	400	H>P		No	ClinGen TOPMed
CA7084637 rs770675983	400	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs759104086 CA389152631	403	L>F		No	ClinGen ExAC TOPMed gnomAD
rs767558702 CA7084640	405	C>Y		No	ClinGen ExAC gnomAD
rs147228745 CA7084641	406	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1463771477 CA389152665	406	P>S		No	ClinGen gnomAD
CA7084642 rs760533701	407	D>G		No	ClinGen ExAC gnomAD
CA389152690 rs1440456364	408	G>W		No	ClinGen TOPMed
rs1222795514 CA389152703	409	H>P		No	ClinGen TOPMed gnomAD
rs1366182740 CA389152702	409	H>Y		No	ClinGen TOPMed gnomAD
rs1320808712 CA389152716	410	M>V		No	ClinGen gnomAD
CA389152751 rs1241912771	412	H>R		No	ClinGen TOPMed
CA257472332 rs373612408	412	H>Y		No	ClinGen ESP
rs1179528414 CA389152796	416	T>S		No	ClinGen gnomAD
rs1594345794 CA389152804	417	A>P		No	ClinGen Ensembl
CA389152815 rs1319670822	418	R>C		No	ClinGen TOPMed gnomAD
rs139452603 CA7084646	418	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084647 rs139452603	418	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389152829 rs780621530	419	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7084649 rs780621530	419	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA389152824 rs1229930537	419	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389152845 rs1270184085	421	G>D		No	ClinGen gnomAD
rs747422737 CA7084650	421	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1441798464 CA389152852	422	R>T		No	ClinGen TOPMed
CA7084677 rs771646388	426	R>C		No	ClinGen ExAC gnomAD
COSM432822 CA7084678 rs199822122	426	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1173719395 CA389153548	429	R>C		No	ClinGen TOPMed gnomAD
rs139733527 CA7084679	429	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs139733527 CA389153550	429	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1028457149 CA257474226	431	S>T		No	ClinGen TOPMed gnomAD
CA389153582 rs1594346101	433	W>*		No	ClinGen Ensembl
CA389153585 rs1182181787	433	W>*		No	ClinGen TOPMed
CA389153607 rs1348688383	436	L>F		No	ClinGen gnomAD
TCGA novel	436	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409364678 CA389153626	438	P>R		No	ClinGen gnomAD
rs1370021434 CA389153632	439	V>M		No	ClinGen gnomAD
CA7084683 rs371162664	441	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA389153662 rs1229176147	442	P>L		No	ClinGen TOPMed gnomAD
rs1171168949 CA389153679	444	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA389153686 rs1481747924	445	F>S		No	ClinGen gnomAD
TCGA novel	445	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389153700 rs1594346171	447	P>T		No	ClinGen Ensembl
rs59993793 CA7084690	448	S>C		No	ClinGen ExAC TOPMed gnomAD
CA257474234 rs59993793	448	S>F		No	ClinGen ExAC TOPMed gnomAD
rs914127877 CA257474235	449	T>A		No	ClinGen TOPMed
CA389153716 rs144497221	449	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7084691 rs144497221	449	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56254417 CA257474236	450	A>D		No	ClinGen Ensembl
rs1449908005 CA389153727	451	Q>K		No	ClinGen gnomAD
rs1170404275 CA389153736	452	D>N		No	ClinGen gnomAD
CA389153738 rs1170404275	452	D>Y		No	ClinGen gnomAD
CA7084696 rs756571402	455	E>D		No	ClinGen ExAC gnomAD
CA7084695 rs753198152	455	E>G		No	ClinGen ExAC gnomAD

No associated diseases with Q9H7H0

No regional properties for Q9H7H0

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H7H0

Functions

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

2 GO annotations of cellular component

Name	Definition
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
methyltransferase activity	Catalysis of the transfer of a methyl group to an acceptor molecule.
S-adenosyl-L-methionine binding	Binding to S-adenosyl-L-methionine.

3 GO annotations of biological process

Name	Definition
methylation	The process in which a methyl group is covalently attached to a molecule.
ribosomal small subunit biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBP8	METTL17	Methyltransferase-like protein 17, mitochondrial	Bos taurus (Bovine)	PR
Q3U2U7	Mettl17	Methyltransferase-like protein 17, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAALKCLLT	LGRWCPGLGV	APQARALAAL	VPGVTQVDNK	SGFLQKRPHR	QHPGILKLPH
70	80	90	100	110	120
VRLPQALANG	AQLLLLGSAG	PTMENQVQTL	TSYLWSRHLP	VEPEELQRRA	RHLEKKFLEN
130	140	150	160	170	180
PDLSQTEEKL	RGAVLHALRK	TTYHWQELSY	TEGLSLVYMA	ARLDGGFAAV	SRAFHEIRAR
190	200	210	220	230	240
NPAFQPQTLM	DFGSGTGSVT	WAAHSIWGQS	LREYMCVDRS	AAMLVLAEKL	LKGGSESGEP
250	260	270	280	290	300
YIPGVFFRQF	LPVSPKVQFD	VVVSAFSLSE	LPSKADRTEV	VQTLWRKTGH	FLVLVENGTK
310	320	330	340	350	360
AGHSLLMDAR	DLVLKGKEKS	PLDPRPGFVF	APCPHELPCP	QLTNLACSFS	QAYHPIPFSW
370	380	390	400	410	420
NKKPKEEKFS	MVILARGSPE	EAHRWPRITQ	PVLKRPRHVH	CHLCCPDGHM	QHAVLTARRH
430	440	450
GRDLYRCARV	SSWGDLLPVL	TPSAFPPSTA	QDPSES