AiPD: Autoinhibited Protein Database

Q96IZ6

Gene name	METTL2A
Protein name	tRNA N(3)-methylcytidine methyltransferase METTL2A
Names	Methyltransferase-like protein 2A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:339175
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

19-154 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

19-154 (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

1 structures for Q96IZ6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96IZ6-F1	Predicted				AlphaFoldDB

318 variants for Q96IZ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA400493848 rs1267771515	2	A>T		No	ClinGen gnomAD
CA400493853 rs1434735541	2	A>V		No	ClinGen gnomAD
CA8694173 rs764853743	3	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8694172 rs776125503	3	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776125503 CA8694171	3	G>S		No	ClinGen ExAC TOPMed gnomAD
rs750795093 CA8694174	4	S>F		No	ClinGen ExAC gnomAD
CA8694175 rs763266862	5	Y>H		No	ClinGen ExAC gnomAD
CA400493864 rs1598027986	5	Y>S		No	ClinGen Ensembl
rs766884205 CA8694176	6	P>L		No	ClinGen ExAC gnomAD
rs752059749 CA8694177	7	E>*		No	ClinGen ExAC gnomAD
rs1299686386 CA400493877	7	E>G		No	ClinGen gnomAD
CA400493888 rs1241510175 COSM3362276	9	A>S	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs752885373 CA8694180	9	A>V		No	ClinGen ExAC gnomAD
CA8694182 rs777900494	10	P>S		No	ClinGen ExAC gnomAD
CA8694183 rs369570968	12	V>I		No	ClinGen ESP ExAC gnomAD
rs771715352 CA8694184	14	A>D		No	ClinGen ExAC gnomAD
CA400493927 rs1252159429	16	K>E		No	ClinGen gnomAD
rs746882959 CA8694186	16	K>T		No	ClinGen ExAC gnomAD
rs1180508904 CA400493936	17	R>K		No	ClinGen gnomAD
CA400493937 rs1180508904	17	R>T		No	ClinGen gnomAD
rs768593087 CA8694187	18	Q>R		No	ClinGen ExAC gnomAD
rs776103425 CA8694188	19	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8694189 rs761296477	21	G>E		No	ClinGen ExAC gnomAD
rs1598028027 CA400493963	21	G>R		No	ClinGen Ensembl
rs1459662220 CA400493978	23	R>Q		No	ClinGen TOPMed gnomAD
CA400493982 rs1324223867	24	F>L		No	ClinGen gnomAD
rs1053113 CA292804563	26	R>S		No	ClinGen Ensembl
CA8694191 rs772785391	26	R>T		No	ClinGen ExAC gnomAD
rs1222664389 CA400494003	27	D>V		No	ClinGen gnomAD
CA8694192 rs762685343	28	P>L		No	ClinGen ExAC gnomAD
rs766807156 CA8694193	30	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766807156 CA400494018	30	R>S		No	ClinGen ExAC TOPMed gnomAD
rs760110836 CA8694195	31	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400494035 rs1458095957	32	F>L		No	ClinGen gnomAD
rs1226837271 CA400494047	34	H>P		No	ClinGen gnomAD
CA8694196 rs200967191	36	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752794656 CA8694197	37	W>S		No	ClinGen ExAC gnomAD
CA8694233 rs775928106	39	N>D		No	ClinGen ExAC gnomAD
CA400494128 rs1335410614	39	N>S		No	ClinGen gnomAD
rs1350303965 CA400494135	40	V>M		No	ClinGen gnomAD
rs761030842 CA8694234	41	E>K		No	ClinGen ExAC gnomAD
CA400494148 rs761030842	41	E>Q		No	ClinGen ExAC gnomAD
rs764721768 CA8694235	42	W>*		No	ClinGen ExAC gnomAD
CA400494169 rs1196201147	42	W>S		No	ClinGen gnomAD
rs761920735 CA8694237	43	S>L		No	ClinGen ExAC gnomAD
rs776567245 CA8694236	43	S>T		No	ClinGen ExAC gnomAD
CA400494206 rs1427820639	45	E>Q		No	ClinGen gnomAD
CA400494246 rs1172413790	47	A>D		No	ClinGen gnomAD
CA400494236 rs1433426573	47	A>T		No	ClinGen gnomAD
CA400494258 rs1360613092	48	A>V		No	ClinGen gnomAD
rs1421125053 CA400494299	52	R>G		No	ClinGen gnomAD
CA400494306 rs1315841323	52	R>K		No	ClinGen TOPMed gnomAD
rs368978301 CA292804674	55	Q>*		No	ClinGen ESP TOPMed gnomAD
rs1232795062 CA400494332	55	Q>R		No	ClinGen gnomAD
rs1254411771 CA400494369	57	N>K		No	ClinGen gnomAD
CA8694238 rs765421958	61	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1598028283 CA400494435	62	V>G		No	ClinGen Ensembl
rs1276415707 CA400494429	62	V>L		No	ClinGen gnomAD
rs750594685 CA8694239	63	C>W		No	ClinGen ExAC TOPMed gnomAD
CA8694240 rs758646439	64	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1279695043 CA400494468	65	E>K		No	ClinGen gnomAD
rs531278303 CA292804684	68	V>I		No	ClinGen Ensembl
rs1310174454 CA400495348	70	Y>*		No	ClinGen TOPMed gnomAD
rs762330163 CA8694254	70	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA400495359 rs1467780701	72	I>V		No	ClinGen TOPMed
CA8694255 rs769820224	73	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1159777084 CA400495379	75	H>Y		No	ClinGen TOPMed
rs1467453159 CA400495399	77	Y>*		No	ClinGen gnomAD
CA400495417 rs1418486950	79	N>K		No	ClinGen TOPMed
CA400495430 rs1239276506	81	F>C		No	ClinGen gnomAD
rs763100719 CA400495431	81	F>L		No	ClinGen ExAC gnomAD
CA8694256 rs773280602	81	F>V		No	ClinGen ExAC gnomAD
CA400495449 rs1362709738	84	I>L		No	ClinGen gnomAD
rs766679692 CA8694258	84	I>T		No	ClinGen ExAC gnomAD
rs752405717 CA8694259	85	H>R		No	ClinGen ExAC gnomAD
rs763821475 CA8694261	86	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1466332862 CA400495507	92	D>N		No	ClinGen TOPMed
CA8694262 rs753791856	93	R>S		No	ClinGen ExAC TOPMed gnomAD
CA400495521 rs1315704419	94	H>N		No	ClinGen TOPMed
CA8694263 rs757265728	94	H>R		No	ClinGen ExAC TOPMed gnomAD
CA400495528 rs1335319207	95	W>R		No	ClinGen gnomAD
CA400495537 rs1245780071	96	L>F		No	ClinGen TOPMed gnomAD
rs757983960 CA8694266	99	E>K		No	ClinGen ExAC gnomAD
CA400495567 rs1259125719	100	F>C		No	ClinGen gnomAD
CA292805125 rs370764066	100	F>L		No	ClinGen ESP TOPMed gnomAD
CA292805129 rs917428547	101	P>R		No	ClinGen TOPMed
rs779794750 CA8694267	101	P>S		No	ClinGen ExAC gnomAD
CA400495588 rs1249189967	104	A>T		No	ClinGen gnomAD
rs1442541905 CA400495652	109	Q>P		No	ClinGen gnomAD
CA400495680 rs1288987673	111	H>D		No	ClinGen TOPMed
rs1053119 CA400495732	114	D>E		No	ClinGen TOPMed gnomAD
CA8694270 rs781567892	117	L>M		No	ClinGen ExAC TOPMed gnomAD
rs748583443 CA8694271	117	L>S		No	ClinGen ExAC gnomAD
CA8694272 rs770296041	118	E>G		No	ClinGen ExAC gnomAD
rs773264116 CA8694273	120	K>*		No	ClinGen ExAC TOPMed gnomAD
CA400495861 rs1395822261	120	K>N		No	ClinGen gnomAD
CA400495842 rs773264116	120	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1234010364 CA400495887	122	E>*		No	ClinGen gnomAD
CA400495926 rs1396636861	124	P>A		No	ClinGen TOPMed gnomAD
rs1396636861 CA400495928	124	P>S		No	ClinGen TOPMed gnomAD
CA8694274 rs763084259	126	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA400495987 rs1262477951	128	N>S		No	ClinGen TOPMed
rs1279225286 CA400496027	131	D>V		No	ClinGen gnomAD
CA400496038 rs1225844101	132	G>R		No	ClinGen gnomAD
TCGA novel	132	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251285449 CA400496046	133	P>S		No	ClinGen gnomAD
rs1277595829 CA400496061	134	G>D		No	ClinGen gnomAD
rs759712883 CA8694278	134	G>S		No	ClinGen ExAC gnomAD
CA400496073 rs1341303319	135	L>*		No	ClinGen TOPMed gnomAD
CA8694279 rs199990091	136	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1276590925 CA400496123	138	E>D		No	ClinGen gnomAD
CA400496131 rs1194022047	139	E>*		No	ClinGen TOPMed gnomAD
CA400496191 rs1359207616	142	K>N		No	ClinGen TOPMed
rs1426572057 CA400496187	142	K>R		No	ClinGen gnomAD
rs753699667 COSM1385058 CA8694280	145	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1436519548 CA400496232	146	K>E		No	ClinGen TOPMed gnomAD
CA8694285 rs757974015	150	H>Q		No	ClinGen ExAC gnomAD
CA8694284 rs749919285	150	H>R		No	ClinGen ExAC TOPMed gnomAD
rs751183839 CA8694287	152	T>I		No	ClinGen ExAC gnomAD
CA8694286 rs779451493	152	T>S		No	ClinGen ExAC
CA8694288 rs754587531	153	Q>H		No	ClinGen ExAC gnomAD
CA400496354 rs1237153595	155	L>F		No	ClinGen gnomAD
CA400496357 rs2319055	155	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8694291 rs2319055	155	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400496360 rs2319055	155	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400496370 rs1171001158	156	P>L		No	ClinGen TOPMed gnomAD
rs1216860066 CA400496388	158	E>G		No	ClinGen gnomAD
rs1216860066 CA400496385	158	E>V		No	ClinGen gnomAD
CA8694294 rs527306537	159	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561611305 CA8694292	159	E>K		No	ClinGen 1000Genomes ExAC
rs771006589 CA8694296	160	N>K		No	ClinGen ExAC gnomAD
TCGA novel	167	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8694299 rs774303973	173	D>H		No	ClinGen ExAC gnomAD
CA8694300 rs746045524	176	P>R		No	ClinGen ExAC gnomAD
CA400496629 rs1451915432	176	P>S		No	ClinGen gnomAD
rs996110912 CA292805201	178	S>T		No	ClinGen TOPMed
rs772242476 CA8694301	179	S>L		No	ClinGen ExAC TOPMed gnomAD
rs546962149 CA8694302	183	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs761742658 CA8694303	183	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400496746 rs1207805713	186	E>*		No	ClinGen TOPMed
rs558488415 CA8694319	187	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs558488415 CA8694320	187	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1390439825 CA400496958	189	C>S		No	ClinGen gnomAD
CA400496983 rs1295728172	191	V>M		No	ClinGen TOPMed
rs747253879 CA8694321	193	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1567733705 CA400497057	194	T>I		No	ClinGen Ensembl
rs571673909 CA8694323	197	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	198	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367574600 CA8694324	198	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200719144 CA8694326	201	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750852603 CA8694353	204	D>E		No	ClinGen ExAC gnomAD
rs373049093 CA8694354	205	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163053920 CA400498192	206	G>V		No	ClinGen gnomAD
CA8694355 rs780221306	207	L>F		No	ClinGen ExAC
rs1567735276 CA400498195	207	L>P		No	ClinGen Ensembl
rs1361102404 CA400498205	208	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	209	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400498207 rs1235009824	209	V>L		No	ClinGen TOPMed gnomAD
CA8694358 rs377075194	211	C>G		No	ClinGen ESP ExAC gnomAD
CA400498230 rs1158663541	212	C>Y		No	ClinGen gnomAD
CA8694359 rs755245417	213	D>H		No	ClinGen ExAC gnomAD
rs1567735291 CA400498246	214	F>S		No	ClinGen Ensembl
CA8694362 rs749084832	219	I>L		No	ClinGen ExAC TOPMed gnomAD
CA400498274 rs749084832	219	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1290210931 CA400498280	220	E>K		No	ClinGen TOPMed
CA8694364 rs770593240	221	L>V		No	ClinGen ExAC gnomAD
CA292807978 rs369852779	222	V>D		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs944251734 CA292807972	222	V>I		No	ClinGen TOPMed gnomAD
CA400498298 rs1452079248	223	Q>E		No	ClinGen gnomAD
CA8694366 rs778774384	223	Q>H		No	ClinGen ExAC gnomAD
rs977177678 CA292810392	224	T>R		No	ClinGen TOPMed
CA400499068 rs1336492037	226	S>*		No	ClinGen gnomAD
CA8694385 rs745730388	228	Y>C		No	ClinGen ExAC gnomAD
rs758303734 CA400499116	230	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8694386 rs758303734	230	P>S		No	ClinGen ExAC TOPMed gnomAD
rs758303734 CA400499114	230	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	231	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8694387 rs375073803	231	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs768009312 CA400499138	232	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768009312 CA8694389	232	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8694388 rs746974059	232	R>W		No	ClinGen ExAC TOPMed gnomAD
rs377157364 CA8694391	233	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297939824 CA400499169	235	A>T		No	ClinGen TOPMed
CA292810470 rs199819347	236	F>I		No	ClinGen ExAC gnomAD
CA8694392 rs199819347	236	F>V		No	ClinGen ExAC gnomAD
rs773706798 CA400499219	238	H>L		No	ClinGen ExAC TOPMed gnomAD
CA8694393 rs773706798	238	H>R		No	ClinGen ExAC TOPMed gnomAD
rs766969562 CA8694395	239	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	240	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400499279 rs1166742193	241	C>Y		No	ClinGen gnomAD
CA8694398 rs767438969	244	E>*		No	ClinGen ExAC
rs1567736619 CA400499343	244	E>D		No	ClinGen Ensembl
rs370342660 CA292810487	245	K>E		No	ClinGen ESP TOPMed gnomAD
rs370342660 CA400499347	245	K>Q		No	ClinGen ESP TOPMed gnomAD
rs1168473567 CA400499431	251	K>E		No	ClinGen gnomAD
rs1598035407 CA400499437	251	K>R		No	ClinGen Ensembl
CA400499454 rs752880488	252	G>D		No	ClinGen ExAC TOPMed gnomAD
rs928829686 CA292810494	252	G>S		No	ClinGen TOPMed gnomAD
rs752880488 CA8694399	252	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1326962768 CA400499513	255	D>G		No	ClinGen TOPMed gnomAD
rs756286160 CA8694400	255	D>H		No	ClinGen ExAC gnomAD
rs756286160 CA400499502	255	D>N		No	ClinGen ExAC gnomAD
rs1350044324 CA400499550	257	I>V		No	ClinGen gnomAD
rs1295483617 CA400499613	260	I>M		No	ClinGen gnomAD
rs764343791 CA8694401	260	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400499626 rs1567736645	261	F>C		No	ClinGen Ensembl
rs750200780 CA8694402	262	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1244655202 CA400499662	263	L>F		No	ClinGen TOPMed gnomAD
rs1199680194 CA400499688	264	S>*		No	ClinGen TOPMed
rs758142350 CA8694403	265	A>T		No	ClinGen ExAC gnomAD
rs202160522 CA8694404	265	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746878739 CA400499705	266	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8694405 rs746878739	266	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	268	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400499771 rs1274408965	269	D>G		No	ClinGen TOPMed
TCGA novel	269	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426661149 CA400500272	270	K>N		No	ClinGen gnomAD
rs1337050911 CA400499791	270	K>R		No	ClinGen TOPMed
CA400500275 rs1187901468	271	M>L		No	ClinGen gnomAD
CA400500278 rs1598037134	271	M>R		No	ClinGen Ensembl
rs755635512 CA8694427	272	Q>*		No	ClinGen ExAC gnomAD
rs199904276 CA8694428	272	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8694429 rs748893124	273	K>E		No	ClinGen ExAC TOPMed gnomAD
CA400500296 rs1465735693	274	A>P		No	ClinGen gnomAD
CA8694430 rs770767774	275	I>V		No	ClinGen ExAC gnomAD
COSM1610580 rs1387666075 CA400500308	276	N>D	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8694431 rs779415614	278	L>P		No	ClinGen ExAC gnomAD
rs1381001782 CA400500323	278	L>V		No	ClinGen gnomAD
CA8694433 rs780502367	279	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8694434 rs776020175	279	S>R		No	ClinGen ExAC gnomAD
CA8694435 rs761120535	282	L>P		No	ClinGen ExAC TOPMed gnomAD
rs371656406 CA292812465	284	P>R		No	ClinGen ESP TOPMed
rs776701783 CA8694437	286	G>R	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400500378 rs1207905039	287	M>I		No	ClinGen gnomAD
CA8694438 rs762006772	287	M>L		No	ClinGen ExAC TOPMed gnomAD
CA400500373 rs762006772	287	M>V		No	ClinGen ExAC TOPMed gnomAD
rs3193606 CA292812522	288	M>I		No	ClinGen TOPMed
CA400500384 rs1295427097	288	M>T		No	ClinGen TOPMed
rs3193605 CA292812516	288	M>V		No	ClinGen Ensembl
CA8694439 rs147656413	291	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400500400 rs1469774140	291	R>Q		No	ClinGen TOPMed gnomAD
CA8694440 rs751278178	292	D>H		No	ClinGen ExAC gnomAD
CA8694442 rs767238326	293	Y>D		No	ClinGen ExAC gnomAD
CA8694444 rs371497579	294	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8694445 rs777410698	295	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8694447 rs375815689	295	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375815689 CA8694446	295	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400500446 rs1443760435	298	M>R		No	ClinGen gnomAD
rs558764495 CA8694449	300	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA400500482 rs1177989830	301	L>V		No	ClinGen gnomAD
rs202032329 CA8694451	302	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8694450 rs772445762	302	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8694453 rs769206467	304	K>N		No	ClinGen ExAC gnomAD
rs894864347	306	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1567737508 CA400500555	306	G>S		No	ClinGen Ensembl
TCGA novel	306	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293665360 CA400500983	307	Q>P		No	ClinGen gnomAD
rs1293665360 CA400500984	307	Q>R		No	ClinGen gnomAD
TCGA novel	310	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8694466 rs753377429	312	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1289010810 CA400501048	312	N>S		No	ClinGen gnomAD
CA400501060 rs1163415658	313	F>S		No	ClinGen TOPMed
rs1205238110 CA400501085	314	Y>C		No	ClinGen TOPMed gnomAD
rs750159036 CA400501098	315	V>L		No	ClinGen ExAC gnomAD
rs750159036 CA8694468	315	V>M		No	ClinGen ExAC gnomAD
rs985386467 CA292813755	317	G>D		No	ClinGen TOPMed
rs1204784990 CA400501136	317	G>S		No	ClinGen TOPMed gnomAD
CA919873787 rs1567738192	323	Y>*		No	ClinGen Ensembl
CA8694469 rs750027966	323	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA400501245 rs1476366081	324	F>V		No	ClinGen gnomAD
CA8694488 rs758062059	329	E>K		No	ClinGen ExAC gnomAD
rs201048299 CA8694489	331	D>N		No	ClinGen 1000Genomes ExAC
CA8694490 rs200384243	332	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377310550 CA8694494	335	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371593532 CA8694493	335	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246307442 CA400501512	337	A>D		No	ClinGen gnomAD
CA8694495 rs777905587	338	G>A		No	ClinGen ExAC TOPMed gnomAD
CA400501570 rs1317940172	342	V>L		No	ClinGen gnomAD
rs749369707 CA8694497	343	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8694498 rs16946085	344	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400501607 rs1464851593	345	L>V		No	ClinGen TOPMed gnomAD
rs988722853 CA292814158	348	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774667328 CA8694499	348	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8694501 rs768501259	349	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776584826 CA400501654	349	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776584826 CA8694502	349	R>P		No	ClinGen ExAC TOPMed gnomAD
rs373237107 CA8694505	351	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	353	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8694507 rs528434306	354	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8694506 rs528434306	354	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751171160 CA8694509	354	R>L		No	ClinGen ExAC TOPMed gnomAD
rs751171160 CA8694508	354	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376347121 CA292814208	356	K>*		No	ClinGen ESP
rs369355451 CA8694510	357	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA400501757 rs1434541828	357	Q>R		No	ClinGen gnomAD
CA8694512 rs753117841	360	M>R		No	ClinGen ExAC gnomAD
CA8694511 rs753117841	360	M>T		No	ClinGen ExAC gnomAD
CA400501788 rs376499301	362	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376499301 CA8694514	362	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8694513 rs192611601	362	R>W	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8694515 rs757244545	363	V>I		No	ClinGen ExAC gnomAD
CA8694516 rs757244545	363	V>L		No	ClinGen ExAC gnomAD
TCGA novel	364	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8694519 rs781133580	364	W>C		No	ClinGen ExAC TOPMed gnomAD
rs772485195 CA400501806	364	W>L		No	ClinGen ExAC TOPMed gnomAD
CA8694518 rs772485195	364	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1223768984 CA400501888	369	Y>N		No	ClinGen TOPMed
rs1598039113 CA400501899	369	Y>S		No	ClinGen Ensembl
CA8694521 rs769747230	371	K>Q		No	ClinGen ExAC gnomAD
rs762978145 CA8694523	372	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400501955 rs762978145	372	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1411030762 CA400501979	373	L>R		No	ClinGen gnomAD
rs1227149208 CA400501973	373	L>V		No	ClinGen TOPMed
CA8694525 rs773863795	375	S>P		No	ClinGen ExAC TOPMed gnomAD
CA400502008 rs1598039132	375	S>Y		No	ClinGen Ensembl
rs1336510812 CA400502051	378	S>I		No	ClinGen TOPMed gnomAD
CA627146844 rs1329164348	379	S>=		No	ClinGen gnomAD

No associated diseases with Q96IZ6

No regional properties for Q96IZ6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96IZ6

Functions

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

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name	Definition
tRNA (cytosine-3-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing 3-methylcytosine.

1 GO annotations of biological process

Name	Definition
tRNA methylation	The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86BS6	metl	Methyltransferase-like protein	Drosophila melanogaster (Fruit fly)	PR
Q9H825	METTL8	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial	Homo sapiens (Human)	PR
Q6P1Q9	METTL2B	tRNA N(3)-methylcytidine methyltransferase METTL2B	Homo sapiens (Human)	PR
Q8BMK1	Mettl2	tRNA N(3)-methylcytidine methyltransferase METTL2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGSYPEGAP	AVLADKRQQF	GSRFLRDPAR	VFHHNAWDNV	EWSEEQAAAA	ERKVQENSIQ
70	80	90	100	110	120
RVCQEKQVDY	EINAHKYWND	FYKIHENGFF	KDRHWLFTEF	PELAPSQNQN	HLKDWFLENK
130	140	150	160	170	180
SEVPECRNNE	DGPGLIMEEQ	HKCSSKSLEH	KTQTLPVEEN	VTQKISDLEI	CADEFPGSSA
190	200	210	220	230	240
TYRILEVGCG	VGNTVFPILQ	TNNDPGLFVY	CCDFSSTAIE	LVQTNSEYDP	SRCFAFVHDL
250	260	270	280	290	300
CDEEKSYPVP	KGSLDIIILI	FVLSAIVPDK	MQKAINRLSR	LLKPGGMMLL	RDYGRYDMAQ
310	320	330	340	350	360
LRFKKGQCLS	GNFYVRGDGT	RVYFFTQEEL	DTLFTTAGLE	KVQNLVDRRL	QVNRGKQLTM
370
YRVWIQCKYC	KPLLSSTS