AiPD: Autoinhibited Protein Database

Q9BTE6

Gene name	AARSD1
Protein name	Alanyl-tRNA editing protein Aarsd1
Names	Alanyl-tRNA synthetase domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80755
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

347-412 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

347-412 (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 Q9BTE6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BTE6-F1	Predicted				AlphaFoldDB

340 variants for Q9BTE6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1257214260 CA399654361	3	F>S		No	ClinGen gnomAD
rs1218954242 CA399654342	4	W>C		No	ClinGen gnomAD
CA8588239 rs770752348	5	C>R		No	ClinGen ExAC
rs1381242780 CA399654313	6	Q>R		No	ClinGen TOPMed
rs746878309 CA8588238	7	R>C		No	ClinGen ExAC TOPMed gnomAD
CA399654302 rs746878309	7	R>G		No	ClinGen ExAC TOPMed gnomAD
CA399654289 rs1325436689	8	D>N		No	ClinGen TOPMed
CA399654275 rs1252743810	9	S>G		No	ClinGen TOPMed
CA399654265 rs1447178587	9	S>R		No	ClinGen gnomAD
CA399654253 rs1340599899	10	Y>C		No	ClinGen TOPMed gnomAD
CA399654238 rs1338085768	11	A>P		No	ClinGen gnomAD
CA399654235 rs1338085768	11	A>S		No	ClinGen gnomAD
TCGA novel	12	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234018842 CA399654211	13	E>V		No	ClinGen gnomAD
rs780005682 CA8588207	15	T>A		No	ClinGen ExAC gnomAD
CA290801289 rs756164870	15	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780005682 CA399654058	15	T>P		No	ClinGen ExAC gnomAD
CA8588206 rs756164870	15	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1030615455 CA290801285	16	T>I		No	ClinGen TOPMed
CA399653986 rs1161321160	18	V>M		No	ClinGen gnomAD
rs1191993817 CA399653874	22	C>Y		No	ClinGen TOPMed gnomAD
CA8588202 rs201921457	24	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200949352 CA8588201	24	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759107155 CA8588200	25	E>K		No	ClinGen ExAC gnomAD
CA8588198 rs765818573	27	Q>H		No	ClinGen ExAC
CA8588199 rs776279392	27	Q>R		No	ClinGen ExAC gnomAD
CA8588197 rs760140413	31	S>T		No	ClinGen ExAC gnomAD
rs773176232 CA8588196	33	G>D		No	ClinGen ExAC gnomAD
rs771976276 CA8588195	36	E>D		No	ClinGen ExAC TOPMed gnomAD
CA399653603 rs1341617799	37	V>M		No	ClinGen gnomAD
CA8588192 rs146850790	39	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8588189 rs373593609	40	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769792797 CA8588188	40	G>D		No	ClinGen ExAC gnomAD
rs373593609 CA8588190	40	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8588187 rs745909665	41	F>S		No	ClinGen ExAC TOPMed gnomAD
CA8588186 rs151255124	42	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399653568 rs1477461374	42	Q>R		No	ClinGen gnomAD
rs752036999 CA8588185	43	V>A		No	ClinGen ExAC gnomAD
rs752036999 CA8588184	43	V>E		No	ClinGen ExAC gnomAD
CA399653553 rs1188198103	45	L>V		No	ClinGen gnomAD
CA8588182 rs778004676	46	E>G		No	ClinGen ExAC gnomAD
rs548746113 CA8588181	47	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA290801183 rs1056668745	48	T>K		No	ClinGen TOPMed
CA8588179 rs753454107	52	P>S		No	ClinGen ExAC
rs1443422574 CA399653474	54	G>D		No	ClinGen TOPMed
CA399653482 rs1218337183	54	G>S		No	ClinGen gnomAD
CA399653457 rs1181225061	55	G>A		No	ClinGen TOPMed
CA8588178 rs766025336	55	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399653449 rs1378588436	56	G>*		No	ClinGen gnomAD
rs140103494 CA8588177	56	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8588176 rs749922163	57	Q>E		No	ClinGen ExAC gnomAD
CA8588147 rs150636308	59	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150636308 CA8588148	59	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78138802 CA8588146	61	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773641992 CA8588145	61	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1012273242 CA290799931	64	I>M		No	ClinGen TOPMed
rs772620932 COSM1630209 CA8588144	64	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399651894 rs141873043	66	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA399651907 COSM158763 rs1225051076	66	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399651862 rs1431355819	67	I>M		No	ClinGen gnomAD
rs148513309 CA8588142	67	I>V		No	ClinGen ESP ExAC gnomAD
rs144652104 CA290799920	68	S>F		No	ClinGen ESP TOPMed
rs1451488614 CA399651801	70	L>R		No	ClinGen gnomAD
CA399651809 rs564932830	70	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745544457 CA8588140	72	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8588139 rs780785654	73	T>I		No	ClinGen ExAC gnomAD
CA8588138 rs543646882	74	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8588136 rs143737893	74	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA8588137 rs575738044	74	R>L		No	ClinGen ExAC TOPMed
rs763991182 CA8588135	75	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370491402 CA8588134	75	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370491402 CA290799893	75	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA290799899 rs370491402	75	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA399651672 rs1366824962	77	E>Q		No	ClinGen gnomAD
rs752509744 CA8588133	78	Q>*		No	ClinGen ExAC gnomAD
rs138195540 CA8588131	79	A>P		No	ClinGen ESP ExAC gnomAD
CA399651583 rs1196967459	80	D>E		No	ClinGen gnomAD
CA399651505 rs1456311131	83	T>A		No	ClinGen gnomAD
rs777024110 CA8588130	84	Q>H		No	ClinGen ExAC gnomAD
CA399651408 rs1215115820	85	T>A		No	ClinGen gnomAD
CA8588129 rs766688361	85	T>I		No	ClinGen ExAC gnomAD
CA8588127 rs773339694	86	P>L		No	ClinGen ExAC gnomAD
rs760723952 CA8588128	86	P>S		No	ClinGen ExAC gnomAD
rs774792788 CA8588124	90	G>E		No	ClinGen ExAC gnomAD
CA399651267 rs1444083963	90	G>R		No	ClinGen gnomAD
CA399651206 rs1329907879	91	S>C		No	ClinGen gnomAD
rs1479442629 CA399651171	92	Q>E		No	ClinGen TOPMed
CA399651123 rs1178617957	93	V>F		No	ClinGen TOPMed
rs749624497 CA8588122	94	L>V		No	ClinGen ExAC gnomAD
CA8588121 rs558579730	95	V>A		No	ClinGen ExAC gnomAD
rs746564541 CA8588119	96	R>Q		No	ClinGen ExAC gnomAD
rs370867262 CA8588120	96	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399650281 rs1480148173	97	V>A		No	ClinGen Ensembl
rs369113433 CA8588117	97	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146996084 CA8588116	99	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs113394106 CA290799851	100	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8588113 rs753673024	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8588114 rs754859878	101	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8588112 rs766774474	102	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8588111 rs760957834	102	R>K		No	ClinGen ExAC gnomAD
CA290799829 rs201059518	105	H>R		No	ClinGen 1000Genomes
rs1017197536 CA290799842	105	H>Y		No	ClinGen Ensembl
CA8588110 rs572096529	106	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1237539326 CA399649884	107	Q>E		No	ClinGen gnomAD
CA8588108 rs761762774	109	H>P		No	ClinGen ExAC gnomAD
rs761762774 CA8588109	109	H>R		No	ClinGen ExAC gnomAD
rs1199051979 CA399646561	111	G>E		No	ClinGen TOPMed gnomAD
rs769126432 CA8588106	111	G>R		No	ClinGen ExAC
CA399646491 rs1217533557	114	L>P		No	ClinGen gnomAD
CA399646484 rs1320907968	115	I>V		No	ClinGen gnomAD
rs142793488 CA8588080	116	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8588079 rs778570584	116	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1276241347 CA399646450	117	A>T		No	ClinGen TOPMed gnomAD
rs373734231 CA290798722	119	A>V		No	ClinGen ESP TOPMed
CA399646386 rs1362789205	120	D>N		No	ClinGen gnomAD
rs755980420 CA8588075	121	H>Y		No	ClinGen ExAC gnomAD
rs138759818 CA8588074	122	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8588073 rs781530774	123	F>L		No	ClinGen ExAC gnomAD
CA399646277 rs1431131588	125	L>V		No	ClinGen TOPMed gnomAD
CA399671429 rs1567716592	129	S>L		No	ClinGen Ensembl
CA8588051 rs758510812	131	E>D		No	ClinGen ExAC TOPMed gnomAD
CA290818203 rs765830178	136	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765830178 CA8588048	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs150118480 CA8588049	136	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8588047 rs755445284	137	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1390668310 CA399671091	138	A>T		No	ClinGen gnomAD
CA399671080 rs1373770676	138	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8588044 rs140763120	142	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA399671007 rs1290982777	143	T>A		No	ClinGen TOPMed
rs1163607602 CA399670986	144	P>H		No	ClinGen gnomAD
CA8588040 rs774854769	145	S>C		No	ClinGen ExAC
rs762614777 CA8588041	145	S>P		No	ClinGen ExAC gnomAD
CA399670969 rs1178976168	146	M>K		No	ClinGen gnomAD
CA290818160 rs987136624	146	M>V		No	ClinGen TOPMed gnomAD
CA399670940 rs1420107823	147	T>I		No	ClinGen gnomAD
CA290818158 rs954339327	148	A>T		No	ClinGen Ensembl
rs769276482 CA8588039	149	E>K		No	ClinGen ExAC TOPMed gnomAD
rs913661176 CA290818151	151	V>I		No	ClinGen gnomAD
rs776579876 CA8588037	154	I>V		No	ClinGen ExAC gnomAD
CA8588036 rs770741976	157	S>N		No	ClinGen ExAC TOPMed gnomAD
rs11551330 CA8588034	158	V>I		No	ClinGen ExAC gnomAD
rs772268689 CA8588033	159	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8588031 rs778873822	162	I>M		No	ClinGen ExAC gnomAD
CA8588032 rs202244343	162	I>V		No	ClinGen ExAC TOPMed gnomAD
rs755037502 CA8588030	163	R>T		No	ClinGen ExAC gnomAD
rs780677937 CA8588027	165	R>Q		No	ClinGen ExAC gnomAD
CA8588028 rs530345909	165	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1597714615 CA399670509	167	P>A		No	ClinGen Ensembl
CA399670494 rs1333198858	167	P>L		No	ClinGen TOPMed
rs1247132511 CA399670481	169	N>D		No	ClinGen Ensembl
CA399670449 rs1447943921	170	V>D		No	ClinGen gnomAD
rs969752036 CA290818104	171	R>*		No	ClinGen gnomAD
rs750808207 CA8588025	171	R>Q		No	ClinGen ExAC gnomAD
rs752332661 CA8588023	172	E>*		No	ClinGen ExAC gnomAD
CA8588022 rs752332661	172	E>Q		No	ClinGen ExAC gnomAD
rs1202205949 CA399670395	173	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8588021 rs201740875	176	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8588020 rs35470084	177	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770831851 CA8588018	178	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776471618 CA8588019	178	P>S		No	ClinGen ExAC gnomAD
CA290818087 rs994013193	179	E>A		No	ClinGen TOPMed gnomAD
rs771796658 CA8588015	179	E>D		No	ClinGen ExAC gnomAD
rs200113939 CA8588016	179	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1597714547 CA399670263	180	V>G		No	ClinGen Ensembl
rs748340816 CA8588014	180	V>M		No	ClinGen ExAC gnomAD
rs768912657 CA8587994	183	V>L		No	ClinGen ExAC gnomAD
CA290818038 rs768912657	183	V>M		No	ClinGen ExAC gnomAD
CA8587991 rs769933004	186	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8587992 rs574315993	186	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8587990 rs746395438	188	L>F		No	ClinGen ExAC gnomAD
CA399669991 rs1567716093	192	H>D		No	ClinGen Ensembl
rs1396500155 CA399669975	192	H>Q		No	ClinGen TOPMed gnomAD
rs757599546 CA8587988	194	G>V		No	ClinGen ExAC TOPMed gnomAD
rs199585384 CA8587987	196	I>V		No	ClinGen ExAC gnomAD
CA399669920 rs199745290	197	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs199745290 CA8587985	197	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8587986 rs558991922	197	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8587981 rs750402783	204	V>A		No	ClinGen ExAC TOPMed gnomAD
rs755582852 CA8587982	204	V>I		No	ClinGen ExAC gnomAD
CA399669674 rs1196279771	206	S>A		No	ClinGen gnomAD
rs1343728367 CA399669666	206	S>F		No	ClinGen gnomAD
rs761574327 CA8587979	207	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1285589643 CA399669625	208	M>I		No	ClinGen gnomAD
rs1382990985 CA399669640	208	M>L		No	ClinGen gnomAD
CA399669584 rs1440539422	210	C>R		No	ClinGen gnomAD
CA399669538 rs1335526697	212	T>S		No	ClinGen gnomAD
rs774195120 CA8587978	213	H>R		No	ClinGen ExAC gnomAD
CA290817939 rs921335304	215	S>N		No	ClinGen TOPMed
CA399669434 rs1432361057	216	N>K		No	ClinGen TOPMed
rs1241945413 CA399669443	216	N>S		No	ClinGen gnomAD
rs1567716044 CA399669429	217	L>V		No	ClinGen Ensembl
rs1432130499 CA399669399	218	S>G		No	ClinGen gnomAD
CA399669366 rs1173761912	220	L>F		No	ClinGen TOPMed
CA8587977 rs763733058	220	L>P		No	ClinGen ExAC gnomAD
CA290817935 rs977254922	221	Q>R		No	ClinGen TOPMed gnomAD
rs767779735 CA290817666	223	I>T		No	ClinGen Ensembl
CA8587945 rs538755701	223	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs748491468 CA8587944	224	K>T		No	ClinGen ExAC TOPMed gnomAD
CA399669200 rs1345941997	225	I>F		No	ClinGen TOPMed gnomAD
CA399669187 rs1377846159	226	L>M		No	ClinGen TOPMed
rs1597714170 CA399669176	227	G>S		No	ClinGen Ensembl
rs769435117 CA8587942	233	K>N		No	ClinGen ExAC gnomAD
rs201172169 CA290817648	234	N>D		No	ClinGen 1000Genomes
CA399669014 rs1175654971	236	T>I		No	ClinGen gnomAD
rs1175654971 CA399669012	236	T>N		No	ClinGen gnomAD
CA8587941 rs745459714	237	N>I		No	ClinGen ExAC gnomAD
rs1426684981 CA399668997	237	N>K		No	ClinGen gnomAD
CA399669002 rs745459714	237	N>S		No	ClinGen ExAC gnomAD
CA399668965 rs1184192642	239	I>M		No	ClinGen gnomAD
CA399668977 rs1314407494	239	I>V		No	ClinGen TOPMed
rs756677979 CA8587939	242	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1255937962 CA399668890	244	N>K		No	ClinGen TOPMed
CA290817629 rs201941576	245	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289911184 CA399668882	245	R>Q		No	ClinGen Ensembl
COSM139060 CA8587938 rs201941576	245	R>W	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA399668855 rs1262864383	247	L>P		No	ClinGen gnomAD
CA290817619 rs1041117411	248	K>N		No	ClinGen TOPMed
rs184752097 CA8587935	249	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8587934 rs752525602	250	M>I		No	ClinGen ExAC gnomAD
CA399668810 rs1293529918	250	M>L		No	ClinGen TOPMed gnomAD
rs1293529918 CA399668812	250	M>V		No	ClinGen TOPMed gnomAD
rs1362725426 CA399668794	251	E>K		No	ClinGen gnomAD
CA399668776 rs1482956894	252	R>G		No	ClinGen TOPMed
CA290817605 rs947887673	252	R>K		No	ClinGen TOPMed
CA8587933 rs765623273	256	T>N		No	ClinGen ExAC
CA399668701 rs1416221150	257	E>K		No	ClinGen TOPMed
rs1335774032 CA399668678	258	K>T		No	ClinGen gnomAD
CA8587930 rs753949409	262	A>V		No	ClinGen ExAC gnomAD
CA399668606 rs1390219128	263	L>P		No	ClinGen gnomAD
rs1408909772 CA399668610	263	L>V		No	ClinGen gnomAD
CA8587904 rs201653455	265	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA399668423 rs1386614225	267	G>V		No	ClinGen TOPMed
rs564793081 CA8587901	270	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA399668372 rs564793081	270	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs140741554 CA8587900	271	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140741554 CA399668346	271	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140741554 CA399668348	271	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409145122 CA399668322	273	E>K		No	ClinGen gnomAD
CA399668244 rs1307919236	277	K>R		No	ClinGen TOPMed
rs1402620821 CA399668231	278	L>V		No	ClinGen gnomAD
CA399668193 rs1567715560	280	N>T		No	ClinGen Ensembl
CA290817134 rs1001435354	281	S>F		No	ClinGen Ensembl
rs1217544098 CA399668138	283	K>N		No	ClinGen TOPMed
CA8587876 rs772951947	288	N>D		No	ClinGen ExAC gnomAD
CA8587875 rs146878083	288	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772951947 CA399667224	288	N>Y		No	ClinGen ExAC gnomAD
CA399667209 rs747639909	289	N>K		No	ClinGen ExAC gnomAD
CA399667197 rs1353332633	291	N>H		No	ClinGen TOPMed
rs774487526 CA8587873	295	D>G		No	ClinGen ExAC gnomAD
CA8587872 rs143831515	296	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399667119 rs1294858174	300	I>L		No	ClinGen TOPMed
CA8587871 rs749180419	301	A>V		No	ClinGen ExAC gnomAD
CA8587869 rs757331707	302	H>R		No	ClinGen ExAC TOPMed gnomAD
rs746116365 CA8587868	304	L>P		No	ClinGen ExAC gnomAD
CA8587867 CA399667047 rs201741799	305	R>S		No	ClinGen ExAC TOPMed gnomAD
CA290817040 rs923298387	306	N>D		No	ClinGen Ensembl
rs1229668521 CA399667025	307	S>C		No	ClinGen gnomAD
CA399667002 rs1309188099	309	D>N		No	ClinGen TOPMed
CA8587865 rs751629403	310	W>L		No	ClinGen ExAC TOPMed gnomAD
CA399666960 rs1233544611	312	G>S		No	ClinGen TOPMed
CA8587863 rs150010039	314	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399666927 rs1249664672	315	I>V		No	ClinGen gnomAD
rs975461199 CA290817030	317	H>Q		No	ClinGen TOPMed gnomAD
CA8587844 rs753992752	319	K>R		No	ClinGen ExAC
CA290816708 rs950276440	319	K>R		No	ClinGen TOPMed
CA8587842 rs777730319	320	E>G		No	ClinGen ExAC gnomAD
CA8587841 rs150835196	321	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs983522950 CA290816695	322	D>V		No	ClinGen TOPMed
rs753176340 CA8587840	324	E>D		No	ClinGen ExAC gnomAD
rs1418066335 CA399666686	326	M>V		No	ClinGen TOPMed
rs755451666 CA8587838	328	I>T		No	ClinGen ExAC gnomAD
rs1429770217 CA399666656	328	I>V		No	ClinGen TOPMed
rs374124347 CA8587837	330	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758557782 CA8587836	331	N>S		No	ClinGen ExAC TOPMed gnomAD
CA290816681 rs370114932	332	E>D		No	ClinGen ESP TOPMed gnomAD
CA8587835 rs761568961	332	E>K		No	ClinGen ExAC TOPMed gnomAD
CA399666565 rs1164714508	335	S>*		No	ClinGen gnomAD
rs199553345 CA8587833	336	E>D		No	ClinGen ExAC TOPMed gnomAD
rs751205444 CA8587834	336	E>Q		No	ClinGen ExAC gnomAD
rs766195779 CA8587808	338	T>I		No	ClinGen ExAC
rs773355741 CA8587806	342	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1223636358 CA399666245	344	V>M		No	ClinGen TOPMed
CA8587803 rs768805369	346	D>H		No	ClinGen ExAC gnomAD
CA8587802 rs768805369	346	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768805369 CA399666221	346	D>Y		No	ClinGen ExAC gnomAD
rs749841304 CA399666185	349	G>D		No	ClinGen ExAC TOPMed gnomAD
rs749841304 CA8587801	349	G>V		No	ClinGen ExAC TOPMed gnomAD
rs144615663 CA8587799	350	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144615663 CA8587800	350	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201854844 CA290815725	352	L>P		No	ClinGen 1000Genomes
rs1211406697 CA399666147	353	F>L		No	ClinGen gnomAD
CA290815717 rs940478176	355	L>V		No	ClinGen Ensembl
rs752235922 CA8587794	356	A>E		No	ClinGen ExAC TOPMed gnomAD
CA399666125 rs758078352	356	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758078352 CA8587795	356	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8587793 rs542286842	358	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA399666102 rs1424864464	358	P>L		No	ClinGen TOPMed
CA399666109 rs542286842	358	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1302220431 CA399666097	359	P>S		No	ClinGen TOPMed gnomAD
CA8587790 rs139795671	360	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8587789 rs371979961	360	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8587787 rs200798102	361	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390470972 CA399666048	364	T>A		No	ClinGen gnomAD
rs762115405 CA8587786	368	R>K		No	ClinGen ExAC TOPMed gnomAD
CA8587759 rs775720478	368	R>S		No	ClinGen ExAC TOPMed gnomAD
CA290815673 rs762115405	368	R>T		No	ClinGen ExAC TOPMed gnomAD
rs756426061 CA290815272	370	A>T		No	ClinGen Ensembl
CA290815258 rs1009260128	374	E>D		No	ClinGen Ensembl
CA8587756 rs147427139	375	G>C		No	ClinGen ESP ExAC gnomAD
CA290815254 rs147427139	375	G>S		No	ClinGen ESP ExAC gnomAD
rs1201076475 CA399665836	379	G>E		No	ClinGen TOPMed gnomAD
CA8587754 rs747316346	380	K>R		No	ClinGen ExAC gnomAD
CA8587753 rs373757316	382	G>D		No	ClinGen ESP ExAC TOPMed
rs768300495 CA8587752	383	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8587751 rs748881742	383	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779560143 CA8587750	384	F>S		No	ClinGen ExAC gnomAD
CA8587749 rs755537590	385	Q>P		No	ClinGen ExAC gnomAD
rs750412082 CA8587748	387	K>M		No	ClinGen ExAC TOPMed gnomAD
CA399665735 rs1262418451 CA399665734	387	K>N		No	ClinGen TOPMed gnomAD
CA399665732 rs1230512042	388	A>T		No	ClinGen gnomAD
CA399665714 rs1329970530	389	T>A		No	ClinGen gnomAD
rs1386771234 CA399665672	391	M>I		No	ClinGen TOPMed
CA8587747 rs780966599	392	S>N		No	ClinGen ExAC gnomAD
CA8587745 rs142857269	393	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8587746 rs371371802	393	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8587743 rs763286258	394	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8587744 rs763918882	394	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8587742 rs752920463	395	M>L		No	ClinGen ExAC gnomAD
CA399665597 rs765392366	397	A>P		No	ClinGen ExAC gnomAD
rs765392366 CA8587741	397	A>T		No	ClinGen ExAC gnomAD
CA8587740 COSM356843 rs763671610	397	A>V	lung skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA290815190 rs936170536	398	Q>L		No	ClinGen TOPMed gnomAD
CA399665569 rs1178537937	399	A>S		No	ClinGen gnomAD
CA399665566 rs1178537937	399	A>T		No	ClinGen gnomAD
CA8587739 rs200326244	399	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761095243 CA8587736	404	Y>H		No	ClinGen ExAC gnomAD
rs773579386 CA8587735	407	T>A		No	ClinGen ExAC gnomAD
rs762617956 CA8587734	407	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399665400 rs1256013376	408	Q>R		No	ClinGen TOPMed gnomAD
CA399665284 rs1236040886	413	E>C		No	ClinGen gnomAD

No associated diseases with Q9BTE6

No regional properties for Q9BTE6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BTE6

Functions

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

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name	Definition
alanine-tRNA ligase activity	Catalysis of the reaction: ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding	Binding to a metal ion.
nucleic acid binding	Binding to a nucleic acid.
Ser-tRNA(Ala) hydrolase activity	Catalysis of the hydrolysis of misacylated Ser-tRNA(Ala).

2 GO annotations of biological process

Name	Definition
alanyl-tRNA aminoacylation	The process of coupling alanine to alanyl-tRNA, catalyzed by alanyl-tRNA synthetase. The alanyl-tRNA synthetase is a class-II synthetases. The activated amino acid is transferred to the 3'-OH group of an alanine accetping tRNA.
regulation of translational fidelity	Any process that modulates the ability of the translational apparatus to interpret the genetic code.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAFWCQRDSY	AREFTTTVVS	CCPAELQTEG	SNGKKEVLSG	FQVVLEDTVL	FPEGGGQPDD
70	80	90	100	110	120
RGTINDISVL	RVTRRGEQAD	HFTQTPLDPG	SQVLVRVDWE	RRFDHMQQHS	GQHLITAVAD
130	140	150	160	170	180
HLFKLKTTSW	ELGRFRSAIE	LDTPSMTAEQ	VAAIEQSVNE	KIRDRLPVNV	RELSLDDPEV
190	200	210	220	230	240
EQVSGRGLPD	DHAGPIRVVN	IEGVDSNMCC	GTHVSNLSDL	QVIKILGTEK	GKKNRTNLIF
250	260	270	280	290	300
LSGNRVLKWM	ERSHGTEKAL	TALLKCGAED	HVEAVKKLQN	STKILQKNNL	NLLRDLAVHI
310	320	330	340	350	360
AHSLRNSPDW	GGVVILHRKE	GDSEFMNIIA	NEIGSEETLL	FLTVGDEKGG	GLFLLAGPPA
370	380	390	400	410
SVETLGPRVA	EVLEGKGAGK	KGRFQGKATK	MSRRMEAQAL	LQDYISTQSA	KE