AiPD: Autoinhibited Protein Database

Q9NP81

Gene name	SARS2 (SARSM)
Protein name	Serine--tRNA ligase, mitochondrial
Names	SerRSmt, Seryl-tRNA synthetase, SerRS, Seryl-tRNA(Ser/Sec) synthetase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54938
EC number	6.1.1.11: Ligases forming aminoacyl-tRNA and related compounds
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

75-164 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

75-164 (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 Q9NP81

Entry ID	Method	Resolution	Chain	Position	Source
7TZB	X-ray	295 A	A/B	35-518	PDB
7U2A	EM	410 A	A/B	1-518	PDB
7U2B	EM	410 A	A/B	1-518	PDB
7YDF	X-ray	280 A	A	181-518	PDB
7YDG	X-ray	320 A	A/B/C/D	181-518	PDB
8FFY	EM	360 A	A/B	1-518	PDB
AF-Q9NP81-F1	Predicted				AlphaFoldDB

498 variants for Q9NP81

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1974727985 RCV001135425	4	S>F	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002507578 rs201988841 RCV001943670 CA323865	6	A>V	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA322799 rs145754412 RCV000198294 RCV000709986	10	W>*	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
rs773524954 RCV000350014 CA9423360	15	R>P	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA320137 RCV000195765 RCV001135423 rs138274440	31	R>G	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000127860 RCV000676535 rs34264048 RCV000292872 CA293132 VAR_052645	35	T>A	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774548274 RCV001135422	46	E>D	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002503773 rs142446687 CA322137 RCV000197679	46	E>K	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000396777 rs886054430 CA10652431	59	D>H	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs902727059 RCV001133917 CA308149919	77	R>L	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_052646 rs34050897 RCV000127861 RCV000351581 RCV000676534 COSM1481026 CA293135 COSM439451	83	S>L	large_intestine Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome breast [Cosmic, ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
RCV000967512 RCV000289667 CA321215 RCV000196800 rs144760517	104	R>W	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001133915 CA405740816 rs1300533578	105	S>R	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002521229 RCV000329300 CA9423257 rs377601567	118	R>Q	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs771968331 RCV001130963 CA9423239	125	D>N	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9423174 RCV001130961 RCV002556834 rs143847153	150	V>I	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Inborn genetic diseases [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs761305168 RCV001130249 CA9423067	227	R>W	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000709987 rs201347156 CA9423065 RCV000498325	232	R>C	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000312224 CA9423045 rs185053576 RCV002523066	253	R>Q	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Inborn genetic diseases [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs760416819 RCV001130246	265	R>P	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002500614 RCV000199934 CA405736862 rs767412508 CA324482 RCV000658834 RCV002515429	266	G>R	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Inborn genetic diseases [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001335870 rs1974461797	274	M>L	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1033683967 RCV001135281	288	P>S	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001135280 CA308142845 rs917884456	293	D>N	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000491254 rs1114167285 CA405736304	348	F>L	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_065820 CA129583 rs727502784 RCV000023973	390	D>G	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome HUPRAS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs370842354 RCV001879976 CA9422836 RCV001257582	402	R>H	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA9422788 rs752872984 RCV002481530 RCV000480257	431	R>C	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002556866 RCV001797154 rs146193366 CA9422787 RCV001133791	431	R>H	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Inborn genetic diseases [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001133790 RCV000890842 rs200202461 RCV000600815 CA9422783	439	T>S	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs762422369 RCV000290523 CA9422779	441	A>T	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV002556865 RCV001133788 CA9422730 rs369183237	468	N>K	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs138608193 RCV001133786 COSM996192 CA9422685	494	T>I	endometrium Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome [Cosmic, ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
rs756872754	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1414090062 CA405742674	2	A>P		No	gnomAD ClinGen
rs763760463 CA9423366	3	A>S		No	ClinGen ExAC TOPMed gnomAD
CA308150092 rs763760463	3	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1053564481 CA308150087	3	A>V		No	ClinGen TOPMed gnomAD
CA405742656 CA405742654 rs1298126072	5	M>I		No	TOPMed gnomAD ClinGen
rs538446780 CA308150084	5	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538446780 CA9423365	5	M>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1220623136 CA405742660	5	M>V		No	ClinGen gnomAD
rs369247597 CA308150077	7	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs765029955 CA405742643	8	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765029955 CA9423364	8	R>S		No	ExAC TOPMed gnomAD ClinGen
rs759579616 CA9423363	9	L>F		No	ExAC gnomAD ClinGen
TCGA novel	11	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9423361 rs747104657	14	T>S		No	ClinGen ExAC gnomAD
CA9423359 rs772426459	16	R>G		No	ClinGen ExAC gnomAD
CA405742546 rs1310955033	16	R>L		No	TOPMed ClinGen
CA405742535 rs1429518434	17	G>E		No	gnomAD ClinGen
CA9423356 rs374926806	19	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9423354 rs780545639	20	P>S		No	ClinGen ExAC gnomAD
rs751103411 CA9423352	21	R>L		No	ClinGen ExAC
CA9423353 rs751103411	21	R>Q		No	ClinGen ExAC
CA405742495 rs1197509973	21	R>W		No	gnomAD ClinGen
rs1305553421 CA405742486	22	G>E		No	ClinGen TOPMed
CA405742472 rs1275658950	23	G>D		No	ClinGen TOPMed gnomAD
CA9423351 rs763672575	23	G>R		No	ExAC gnomAD ClinGen
CA308150033 rs946906198	27	N>S		No	ClinGen TOPMed gnomAD
CA308150029 rs915288282	28	D>Y		No	ClinGen Ensembl
rs765150934 CA9423349	31	R>T		No	ExAC gnomAD ClinGen
rs1411162596 CA405742337	33	S>R		No	ClinGen gnomAD
TCGA novel	34	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417731478 CA405742286	36	T>I		No	ClinGen TOPMed
CA405742209 rs766448244	40	N>K		No	ClinGen ExAC TOPMed gnomAD
rs776579814 CA9423348	40	N>S		No	ExAC gnomAD ClinGen
rs760767339 CA9423346	41	R>Q		No	ClinGen ExAC gnomAD
rs1291752956 CA405742199	41	R>W		No	ClinGen gnomAD
CA405742135 rs1230303020	45	Y>*		No	gnomAD ClinGen
CA405742076 rs749638100	48	A>G		No	ClinGen ExAC gnomAD
rs769114619 CA9423342	48	A>T		No	ExAC gnomAD ClinGen
rs749638100 CA9423341	48	A>V		No	ClinGen ExAC gnomAD
rs981316391 CA308149994	49	R>C		No	Ensembl ClinGen
CA9423339 rs577688657	49	R>H		No	ClinGen ExAC TOPMed gnomAD
rs577688657 CA405742059	49	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746467688 CA9423338	50	E>Q		No	ExAC gnomAD ClinGen
rs1014798115 COSM1393487 CA308149991 COSM1393488	51	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9423337 rs777325646	53	S>G		No	ClinGen ExAC gnomAD
rs757985897 CA9423336	53	S>I		No	ClinGen ExAC gnomAD
rs757985897 CA405741982	53	S>T		No	ClinGen ExAC gnomAD
rs1371601053 CA405741963	54	A>T		No	gnomAD ClinGen
rs778446942 CA9423334	54	A>V		No	ExAC gnomAD ClinGen
rs1405906377 CA405741936	55	L>P		No	gnomAD ClinGen
rs753609951 CA9423332	56	P>A		No	ExAC TOPMed gnomAD ClinGen
rs1458874754 CA405741911	57	Q>R		No	TOPMed gnomAD ClinGen
CA405741896 rs1005101081	58	L>P		No	gnomAD ClinGen
CA308149975 rs1005101081	58	L>R		No	ClinGen gnomAD
CA9423328 rs145163692	59	D>A		No	ClinGen ExAC TOPMed gnomAD
rs145163692 CA9423329	59	D>G		No	ClinGen ExAC TOPMed gnomAD
CA405741876 rs1416274956	60	I>V		No	gnomAD ClinGen
COSM1393486 CA9423326 COSM1393485 rs566374295	61	E>D	large_intestine [Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated
rs200608560 CA9423325	62	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs763335001 CA9423323	63	F>L		No	ClinGen ExAC gnomAD
TCGA novel	63	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	66	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405741763 rs1266993204	67	P>L		No	ClinGen gnomAD
CA405741755 COSM1590017 COSM996195 rs1277293302	68	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA9423321 rs746410668	69	E>D		No	ExAC gnomAD ClinGen
rs1316996044 CA405741742	69	E>Q		No	ClinGen TOPMed
rs1218489098 CA405741716	70	A>V		No	TOPMed ClinGen
rs771556597 CA405741706	71	A>G		No	ExAC gnomAD ClinGen
CA9423318 rs771556597	71	A>V		No	ClinGen ExAC gnomAD
CA308149935 rs900168890	72	H>R		No	TOPMed gnomAD ClinGen
rs1019743628 CA308149931	73	A>P		No	ClinGen TOPMed gnomAD
CA405741686 rs1019743628	73	A>S		No	ClinGen TOPMed gnomAD
CA405741680 rs1194624118	73	A>V		No	ClinGen TOPMed
rs753664989 CA9423314	75	E>A		No	ExAC TOPMed gnomAD ClinGen
rs753664989 CA405741661	75	E>G		No	ExAC TOPMed gnomAD ClinGen
CA405741659 rs753664989	75	E>V		No	ExAC TOPMed gnomAD ClinGen
rs1451730595 CA405741651	76	L>F		No	ClinGen gnomAD
CA9423312 rs756117474	77	R>C		No	ClinGen ExAC gnomAD
CA9423310 rs200138426	78	K>N		No	ExAC TOPMed gnomAD ClinGen
rs750444263 CA9423311	78	K>R		No	ClinGen ExAC gnomAD
rs1202783105 CA405741584	80	E>D		No	gnomAD ClinGen
CA405741589 rs1247377298	80	E>G		No	ClinGen gnomAD
rs761884709 CA9423309	82	R>G		No	ClinGen ExAC TOPMed gnomAD
CA405741567 rs1265647122	82	R>L		No	gnomAD ClinGen
rs1012224485 CA308149899	84	A>V		No	TOPMed ClinGen
rs771376102 CA9423303	85	D>A		No	ClinGen ExAC TOPMed gnomAD
rs771376102 CA9423302	85	D>G		No	ExAC TOPMed gnomAD ClinGen
rs760018219 CA9423304	85	D>H		No	ExAC gnomAD ClinGen
CA405741525 rs1369908040	86	L>R		No	ClinGen gnomAD
CA405741529 rs1380593052	86	L>V		No	ClinGen gnomAD
CA9423299 rs773784805 COSM711529 COSM1148166	87	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA9423301 rs562251304	87	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1363970851 CA405741502	88	A>V		No	ClinGen gnomAD
rs538595585 CA9423268	91	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1203658535 CA405740959	93	W>*		No	gnomAD ClinGen
rs1244276876 CA405740962	93	W>S		No	gnomAD ClinGen
rs766722212 CA9423267	94	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA308148687 rs867286998	95	E>K		No	ClinGen gnomAD
CA405740866 rs1600171833	101	E>G		No	ClinGen Ensembl
rs1016344728 CA308148684	104	R>Q		No	ClinGen TOPMed gnomAD
rs752115040 CA405740820	105	S>I		No	ClinGen gnomAD
rs752115040 CA308148682	105	S>N		No	gnomAD ClinGen
CA9423266 rs750838263	106	L>P		No	ExAC gnomAD ClinGen
rs1600171804 CA405740784	108	E>G		No	ClinGen Ensembl
rs760379923 CA405740739	112	A>S		No	gnomAD ClinGen
CA308148679 rs760379923	112	A>T		No	ClinGen gnomAD
CA405740733 rs1399622503	113	V>M		No	gnomAD ClinGen
rs1382248870 CA405740723	114	T>S		No	TOPMed gnomAD ClinGen
CA9423261 rs759299256	117	V>A		No	ExAC gnomAD ClinGen
rs759299256 CA405740704	117	V>G		No	ExAC gnomAD ClinGen
rs953356591 CA308148675	117	V>L		No	ClinGen Ensembl
CA9423259 rs147412052	118	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
RCV000676531 rs147412052 CA9423258	118	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA405740696 rs1317555883	119	A>D		No	ClinGen TOPMed
rs1277098974 CA405740156	122	A>T		No	ClinGen TOPMed
CA405740084 rs1171710979	127	G>S		No	ClinGen TOPMed gnomAD
rs748153928 CA9423238	130	Q>R		No	ExAC gnomAD ClinGen
CA405740002 rs1600168675	131	Q>H		No	Ensembl ClinGen
rs1167619982 CA405739494	132	D>V		No	ClinGen gnomAD
rs60777009 CA308145107	133	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA405739481 rs1429534150	134	K>M		No	ClinGen gnomAD
CA405739462 rs1191421214	136	Q>H		No	TOPMed ClinGen
CA405739460 rs1430722699	137	G>S		No	TOPMed ClinGen
rs1377566457 CA405739453	138	L>V		No	TOPMed gnomAD ClinGen
CA308145096 rs943692591	139	R>Q		No	TOPMed ClinGen
CA9423186 rs541776059	139	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs904563700 CA308145085	140	A>E		No	TOPMed gnomAD ClinGen
CA9423185 rs758828701	140	A>T		No	ExAC gnomAD ClinGen
rs904563700 CA308145089	140	A>V		No	TOPMed gnomAD ClinGen
rs748750474 CA9423184	141	R>C		No	ExAC gnomAD ClinGen
rs779303412 CA9423183	141	R>H		No	ClinGen ExAC TOPMed gnomAD
CA308145074 rs968427713	142	G>A		No	TOPMed ClinGen
CA308145076 rs985225100	142	G>C		No	TOPMed ClinGen
rs947932141 CA308145073	143	R>G		No	TOPMed gnomAD ClinGen
rs780832173 CA405739433	143	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780832173 CA9423182	143	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405739435 rs947932141	143	R>W		No	TOPMed gnomAD ClinGen
CA405739418 rs749967210	145	I>M		No	ClinGen ExAC TOPMed gnomAD
rs756952401 CA9423179	146	R>Q		No	ClinGen ExAC gnomAD
CA405739416 rs780775359	146	R>W		No	ExAC TOPMed gnomAD ClinGen
CA9423177 rs148276926	148	E>K		No	ClinGen ESP ExAC gnomAD
rs762785941 CA9423175	149	L>P		No	ExAC TOPMed gnomAD ClinGen
CA405739392 rs143847153	150	V>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs534489599 CA308145048	151	H>L		No	Ensembl ClinGen
rs149460243 CA9423173	152	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9423172 rs759644599	152	L>P		No	ExAC gnomAD ClinGen
CA405739372 rs1381480260	153	Y>*		No	ClinGen TOPMed gnomAD
rs1479230964 CA405739336	156	E>V		No	gnomAD ClinGen
CA405739297 rs941027839	158	Q>H		No	ClinGen gnomAD
CA9423171 rs776868922	159	L>H		No	ExAC TOPMed gnomAD ClinGen
CA405739259 rs1251935171	161	E>K		No	ClinGen TOPMed
CA308145014 CA9423169 rs761049654	162	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs771250494 CA9423170	162	Q>R		No	ExAC gnomAD ClinGen
rs773439190 CA9423168	164	Y>C		No	ClinGen ExAC gnomAD
CA405739199 rs1462695981	164	Y>H		No	ClinGen gnomAD
CA405739165 rs1453106763	166	Q>*		No	gnomAD ClinGen
CA9423167 rs772427133	166	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA308144999 rs145344518	167	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs145344518 CA9423165	167	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA405739060 rs1383481830	172	N>S		No	gnomAD ClinGen
rs1228718726 CA405739032	174	T>A		No	ClinGen TOPMed
CA405738998 rs1467787781	176	P>A		No	ClinGen gnomAD
CA9423161 rs758143485	178	V>L		No	ExAC TOPMed gnomAD ClinGen
CA9423160 rs758143485	178	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9423142 rs758006251	179	P>L		No	ClinGen ExAC TOPMed gnomAD
CA319888 RCV000195537 rs552465576 RCV003114357	180	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753775025 CA9423139	181	G>R		No	ExAC TOPMed gnomAD ClinGen
CA405738205 rs1194017764	182	D>N		No	ClinGen gnomAD
CA405738206 rs1194017764	182	D>Y		No	ClinGen gnomAD
rs756223714 CA9423138	186	A>P		No	ExAC TOPMed gnomAD ClinGen
rs756223714 CA9423137	186	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9423136 rs750491838	186	A>V		No	ExAC gnomAD ClinGen
CA9423135 rs767759146	187	R>*		No	ClinGen ExAC TOPMed gnomAD
CA405738170 rs1290909544	187	R>Q		No	ClinGen gnomAD
rs536859177 CA9423134	189	L>F		No	1000Genomes ExAC gnomAD ClinGen
CA9423133 rs774772393	191	M>V		No	ExAC TOPMed gnomAD ClinGen
rs141084630 CA9423130	193	G>R		No	ClinGen ESP ExAC gnomAD
RCV003087556 rs781334302	194	D>missing		No	ClinVar dbSNP
rs770312701 CA9423127	195	K>Q		No	ExAC gnomAD ClinGen
CA9423106 rs368080032	200	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA405738072 rs1375372481	200	F>S		No	ClinGen TOPMed gnomAD
rs1375372481 CA405738073	200	F>Y		No	ClinGen TOPMed gnomAD
CA9423105 rs768446015	201	Q>*		No	ExAC gnomAD ClinGen
CA405738062 rs780037330	202	P>S		No	ExAC gnomAD ClinGen
CA9423103 rs780037330	202	P>T		No	ClinGen ExAC gnomAD
CA9423101 rs371017861	203	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA9423102 rs375551784	203	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1176431764 CA405738052	204	G>C		No	ClinGen gnomAD
rs1244897170 CA405738048	205	H>Y		No	gnomAD ClinGen
rs1468016001 CA405738028	207	E>D		No	TOPMed gnomAD ClinGen
rs1183656643 CA405738031	207	E>V		No	gnomAD ClinGen
CA308143790 rs865992534	209	G>C		No	ClinGen Ensembl
CA308143785 rs867710443	210	E>*		No	gnomAD ClinGen
CA308143788 rs867710443	210	E>K		No	ClinGen gnomAD
CA405738000 rs863224196	212	L>F		No	ClinGen gnomAD
CA321003 RCV000196575 rs863224196	212	L>V		No	ClinGen ClinVar dbSNP gnomAD
rs151116675 CA9423098	213	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs777918454 CA9423097	214	I>V		No	ClinGen ExAC
rs758666725 CA9423096	216	R>C		No	ExAC gnomAD ClinGen
CA9423095 rs376033866	216	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs1317845362 CA405737972	217	Q>K		No	gnomAD ClinGen
CA405737960 rs1453463021	218	K>R		No	ClinGen gnomAD
rs770920558 CA9423076	219	R>C		No	ExAC TOPMed gnomAD ClinGen
CA308143581 rs747064409	219	R>H		No	ExAC TOPMed gnomAD ClinGen
CA9423075 rs747064409	219	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1415816925 CA405737937	220	L>P		No	ClinGen TOPMed
CA405737939 rs1182356554	220	L>V		No	ClinGen TOPMed
rs927044071 CA308143571	221	S>F		No	ClinGen TOPMed
CA405737935 rs1264216814	221	S>P		No	ClinGen gnomAD
rs777868756 CA9423074	222	H>D		No	ClinGen ExAC
rs758611878 CA9423073	222	H>R		No	ExAC gnomAD ClinGen
rs755262990 CA9423070	223	V>L		No	ClinGen ExAC gnomAD
rs755262990 CA9423071	223	V>M		No	ExAC gnomAD ClinGen
rs1216977150 CA405737918	224	S>A		No	gnomAD ClinGen
rs761305168 CA9423069	227	R>G		No	ClinGen ExAC TOPMed gnomAD
rs142751543 CA9423066	227	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA405737873 rs1448061086	231	L>P		No	TOPMed ClinGen
rs762564479 CA9423064	232	R>H		No	ClinGen ExAC gnomAD
CA9423061 rs759199778	234	A>P		No	ClinGen ExAC TOPMed gnomAD
rs746619673 CA9423060	234	A>V		No	ExAC gnomAD ClinGen
rs773149708 CA9423057	237	L>H		No	ClinGen ExAC gnomAD
rs1320523574 CA405737803	240	H>D		No	TOPMed ClinGen
CA9423055 rs374625962	240	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA405737789 rs1257462422	241	G>D		No	ClinGen gnomAD
rs374563723 CA9423054	241	G>S		No	ESP ExAC gnomAD ClinGen
rs1272630482 CA405737776	242	L>Q		No	ClinGen TOPMed
CA405737760 rs1600165619	243	V>G		No	ClinGen Ensembl
rs1325860785 CA405737715	245	F>L		No	gnomAD ClinGen
rs1264055241 CA405737702	246	T>A		No	gnomAD ClinGen
CA9423053 rs372561312	246	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs780537484 CA9423051	249	K>E		No	ExAC gnomAD ClinGen
rs1309025527 CA405737595	250	L>P		No	gnomAD ClinGen
rs555119979 CA9423049	252	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777764275 CA9423048	252	R>H		No	ExAC TOPMed gnomAD ClinGen
CA405737534 rs752273348	253	R>G		No	ClinGen ExAC TOPMed gnomAD
CA405737518 rs185053576	253	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA9423046 rs752273348	253	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1355866953 CA405736936	254	G>S		No	gnomAD ClinGen
CA405736932 rs1315421572	254	G>V		No	ClinGen TOPMed
CA405736922 rs1248018784	256	T>P		No	gnomAD ClinGen
CA405736915 rs1360114896	257	P>S		No	gnomAD ClinGen
rs375205027 CA9423027	258	M>V		No	ESP ExAC ClinGen
rs147888941 CA9423026 COSM1206799	259	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1327820405 CA405736896	260	V>L		No	gnomAD ClinGen
rs1327820405 CA405736898	260	V>M		No	gnomAD ClinGen
CA405736892 rs1279234167	261	P>A		No	ClinGen TOPMed
CA308143050 rs982823552	262	D>E		No	ClinGen TOPMed gnomAD
rs1400964032 CA405736872	264	L>V		No	ClinGen gnomAD
CA405736865 rs1360341999	265	R>C		No	ClinGen TOPMed gnomAD
rs760416819 CA9423023	265	R>H		No	ExAC TOPMed gnomAD ClinGen
CA308143027 rs767412508	266	G>*		No	ExAC TOPMed gnomAD ClinGen
rs1600164738 CA405736853	267	A>V		No	Ensembl ClinGen
rs112101438 CA308142882	272	C>S		No	ClinGen Ensembl
rs373193999 CA9422996	276	P>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs936857441 CA308142877	277	N>D		No	TOPMed gnomAD ClinGen
CA405736776 rs1424140484	277	N>S		No	gnomAD ClinGen
rs546320477 CA405736769	278	A>D		No	TOPMed gnomAD ClinGen
CA308142874 rs546320477	278	A>G		No	TOPMed gnomAD ClinGen
rs546320477 CA308142869	278	A>V		No	ClinGen TOPMed gnomAD
rs1238723599 CA405736764	279	N>S		No	ClinGen gnomAD
rs1471080941 CA405736766	279	N>Y		No	gnomAD ClinGen
CA405736757 rs1158296257	280	P>L		No	ClinGen TOPMed
rs747367586 CA9422992	285	N>D		No	ClinGen ExAC gnomAD
rs778297773 CA9422991	285	N>S		No	ClinGen ExAC gnomAD
rs144697966 CA9422989	286	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217848997 CA405736713	287	D>N		No	ClinGen TOPMed gnomAD
CA308142855 rs1033683967	288	P>A		No	TOPMed ClinGen
CA9422987 rs140851346	288	P>R		No	ESP ExAC gnomAD ClinGen
CA405736698 rs1239481749	289	A>V		No	ClinGen gnomAD
rs79702490 CA9422986	290	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs79702490 CA405736694	290	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM711532 rs780828600 CA9422985	290	R>H	lung [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA9422984 rs757034837	291	F>L		No	ClinGen ExAC gnomAD
CA405736678 rs1358802883	292	K>N		No	gnomAD ClinGen
CA405736673 rs1568424066	293	D>G		No	Ensembl ClinGen
rs762837815 CA9422981	297	A>S		No	ExAC gnomAD ClinGen
rs762837815 CA9422982	297	A>T		No	ExAC gnomAD ClinGen
rs752816058 CA9422979	300	A>T		No	ExAC gnomAD ClinGen
rs765461892 CA9422978	300	A>V		No	ExAC TOPMed gnomAD ClinGen
CA405736618 rs1600164395	302	V>G		No	Ensembl ClinGen
CA9422975 rs149720096	302	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1235439588 CA405736617	303	G>R		No	TOPMed gnomAD ClinGen
CA308142824 rs973243823	306	G>S		No	ClinGen Ensembl
rs1417463320 CA405736562	309	M>R		No	TOPMed gnomAD ClinGen
rs1417463320 CA405736563	309	M>T		No	ClinGen TOPMed gnomAD
CA405736554 rs1359397162	310	D>G		No	gnomAD ClinGen
CA405736542 rs957005475	312	T>A		No	gnomAD ClinGen
CA308142663 rs957005475	312	T>P		No	ClinGen gnomAD
rs1382244778 CA405736539	312	T>S		No	ClinGen TOPMed
CA9422952 rs139600976	313	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9422951 rs769171598	314	A>V		No	ClinGen ExAC gnomAD
CA9422949 rs776041054	317	D>A		No	ClinGen ExAC gnomAD
CA405736510 rs776041054	317	D>G		No	ExAC gnomAD ClinGen
rs745358885 CA9422950	317	D>H		No	ClinGen ExAC gnomAD
rs745358885 CA405736511	317	D>Y		No	ClinGen ExAC gnomAD
CA9422948 rs770608203	318	L>M		No	ExAC TOPMed gnomAD ClinGen
rs746697410 CA9422947 COSM188906	319	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA405736496 rs1301131163	320	V>L		No	TOPMed ClinGen
rs1199661737 CA405736474	321	R>S		No	ClinGen gnomAD
CA405736464 rs1568423761	323	V>I		No	Ensembl ClinGen
CA405736455 rs1482178109	324	C>Y		No	gnomAD ClinGen
rs375266643 CA9422922	325	S>C		No	ClinGen ESP ExAC gnomAD
rs1217189969 CA405736449	325	S>P		No	ClinGen gnomAD
rs1306372678 CA405736428	328	C>Y		No	gnomAD ClinGen
rs1340694250 CA405736418	329	Y>F		No	gnomAD ClinGen
rs757508012 CA9422919	330	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781367675 CA9422920	330	R>W		No	ExAC TOPMed gnomAD ClinGen
CA9422918 rs751913579	331	A>G		No	ExAC ClinGen
CA9422917 rs199736022	335	T>M		No	1000Genomes ExAC gnomAD ClinGen
CA405736376 rs1156874975	336	G>E		No	gnomAD ClinGen
CA9422913 rs760052365	340	R>Q		No	ClinGen ExAC gnomAD
CA9422914 rs765803456	340	R>W		No	ExAC TOPMed gnomAD ClinGen
CA9422910 rs761616100	344	R>*		No	ExAC TOPMed gnomAD ClinGen
CA308142561 rs761616100	344	R>G		No	ClinGen ExAC TOPMed gnomAD
CA405736329 rs774160061	344	R>P		No	ExAC TOPMed gnomAD ClinGen
CA9422909 rs774160061	344	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405736305 rs1114167285	348	F>I		No	ClinGen TOPMed
CA405736298 rs1356496047	349	T>A		No	ClinGen gnomAD
CA405736249 RCV000791296 rs1600163739	352	E>A		No	Ensembl ClinGen ClinVar dbSNP
rs1478280524 CA405736242	353	M>L		No	gnomAD ClinGen
CA9422880 rs777920623	353	M>T		No	ExAC gnomAD ClinGen
rs1276150176 CA405736211	357	T>I		No	ClinGen Ensembl
rs1458746008 CA405736185	362	E>*		No	TOPMed gnomAD ClinGen
CA405736187 rs1458746008	362	E>K		No	ClinGen TOPMed gnomAD
CA9422878 rs150586737	364	S>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA9422877 rs748459213	364	S>N		No	ExAC TOPMed gnomAD ClinGen
rs998074550 CA308142474	365	S>P		No	ClinGen TOPMed
CA308142473 rs1039731743	370	E>D		No	ClinGen TOPMed
CA405736121 rs1271242337	371	F>L		No	ClinGen gnomAD
CA308142469 rs1007300831	372	L>P		No	TOPMed ClinGen
rs755312281 CA9422875	376	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1346313359 CA405736094	376	M>V		No	ClinGen gnomAD
CA405736081 rs754330537 CA9422874 COSM1525379	377	E>D	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA405736086 rs1232152227	377	E>Q		No	ClinGen gnomAD
rs756782016 CA9422872	379	L>W		No	ClinGen ExAC TOPMed gnomAD
CA405736066 rs1443479120	380	T>A		No	TOPMed gnomAD ClinGen
rs1600163632 CA405736057	381	E>G		No	ClinGen Ensembl
CA308142452 rs535667844	383	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535667844 CA9422871 RCV000996920	383	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs763626465 CA9422870	387	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1335920603 CA405736020	387	R>W		No	ClinGen gnomAD
CA9422841 rs768814624	388	V>A		No	ClinGen ExAC gnomAD
rs1005172144 CA308181475	390	D>N		No	ClinGen gnomAD
CA405735986 rs1376424000	391	M>L		No	gnomAD ClinGen
CA405735975 rs1288258671	392	P>S		No	ClinGen gnomAD
rs1207075324 CA405735966	393	T>I		No	TOPMed ClinGen
CA405735951 rs888073295	395	E>D		No	Ensembl ClinGen
rs1600162313 CA405735940	397	G>A		No	Ensembl ClinGen
rs1404331393 CA405735923	400	A>D		No	ClinGen gnomAD
rs1164866627 CA405735926	400	A>T		No	ClinGen TOPMed gnomAD
CA308181446 rs746315771	402	R>C		No	ClinGen ExAC gnomAD
rs746315771 CA9422837	402	R>S		No	ClinGen ExAC gnomAD
CA9422834 rs752170440	403	K>E		No	ClinGen ExAC TOPMed gnomAD
CA405735904 rs1391327979	403	K>N		No	TOPMed ClinGen
rs201094857 CA9422833	403	K>R		No	ExAC TOPMed gnomAD ClinGen
rs1485198927 CA405735894	405	D>N		No	ClinGen gnomAD
rs754662896 CA9422832	407	E>K		No	ClinGen ExAC gnomAD
rs1334426276 CA405735872	408	A>S		No	gnomAD ClinGen
CA405735860 rs1271579801	409	W>*		No	gnomAD ClinGen
rs376256589 CA9422831	413	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA405735833 rs1568422833	414	G>S		No	ClinGen Ensembl
rs907012545 CA308181436	414	G>V		No	ClinGen TOPMed gnomAD
CA9422830 rs766107433	415	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760467800 CA9422829	415	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405735817 rs1293589610	416	F>L		No	ClinGen TOPMed gnomAD
rs767381517 CA9422827	418	E>*		No	ExAC TOPMed gnomAD ClinGen
rs1600162013 CA405735784	420	T>P		No	ClinGen Ensembl
rs780909462 CA9422793	423	S>P		No	ExAC gnomAD ClinGen
CA308181195 rs986691224	423	S>Y		No	ClinGen TOPMed
rs751384468 CA9422791	429	Q>*		No	ExAC TOPMed gnomAD ClinGen
CA9422790 rs764154009	429	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA405735722 rs764154009	429	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs758499020 CA9422789	430	S>G		No	ExAC gnomAD ClinGen
CA405735705 rs1349392978	432	R>C		No	TOPMed gnomAD ClinGen
rs868274394 CA405735704	432	R>H		No	TOPMed gnomAD ClinGen
rs868274394 CA308181143	432	R>L		No	ClinGen TOPMed gnomAD
CA308181140 rs373636201	435	I>M		No	ClinGen ESP gnomAD
rs1022495572 CA308181142	435	I>V		No	ClinGen TOPMed gnomAD
rs777038996 CA9422784	436	M>R		No	ClinGen ExAC TOPMed gnomAD
CA405735682 rs1414622986	436	M>V		No	ClinGen TOPMed gnomAD
CA405735670 rs1600161910	437	F>C		No	ClinGen Ensembl
CA9422780 rs772617303	440	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1031402121 CA308181113	442	G>R		No	TOPMed ClinGen
CA9422778 rs775052196	445	Q>R		No	ClinGen ExAC gnomAD
rs769476736 CA9422777	447	A>V		No	ExAC TOPMed gnomAD ClinGen
CA405735598 rs17854237	448	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9422775 rs780899400	449	T>K		No	ClinGen ExAC TOPMed gnomAD
CA308181098 rs780899400	449	T>M		No	ClinGen ExAC TOPMed gnomAD
rs776242585 CA9422740	450	V>L		No	ExAC TOPMed gnomAD ClinGen
CA9422738 rs760460382	452	A>P		No	ExAC gnomAD ClinGen
CA405735567 rs760460382	452	A>T		No	ExAC gnomAD ClinGen
rs773011440 CA9422737	452	A>V		No	ExAC gnomAD ClinGen
CA405735557 rs1349241857	454	A>T		No	TOPMed gnomAD ClinGen
rs747979441 CA9422735	455	C>Y		No	ExAC gnomAD ClinGen
rs1232266789 CA405735539	456	A>V		No	gnomAD ClinGen
CA16620844 RCV000482061 rs1064796265	459	R>H		No	Ensembl ClinGen ClinVar dbSNP
rs1398149282 CA405735514	461	L>V		No	TOPMed ClinGen
rs200868602 CA9422732	463	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9422733 rs768681363	463	A>T		No	ExAC TOPMed gnomAD ClinGen
rs200868602 CA308180894	463	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1359378947 CA405735490	465	L>Q		No	ClinGen TOPMed
RCV000723127 rs1568422451	466	E>missing		No	ClinVar dbSNP
rs1421034714 CA405735482	466	E>D		No	gnomAD ClinGen
CA405735471 rs1408241322	468	N>D		No	gnomAD ClinGen
rs746027656 CA9422729	469	Q>*		No	ExAC TOPMed gnomAD ClinGen
CA9422706 rs753180948	472	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9422705 rs765876039	472	D>V		No	ExAC TOPMed gnomAD ClinGen
rs749994514 CA405735424	473	G>C		No	ExAC TOPMed gnomAD ClinGen
CA405735423 rs1326105775	473	G>D		No	ClinGen gnomAD
rs749994514 CA9422703	473	G>S		No	ExAC TOPMed gnomAD ClinGen
CA308180726 rs777885198	474	S>*		No	Ensembl ClinGen
CA405735414 rs1394119708	475	V>L		No	gnomAD ClinGen
rs751186641 COSM1681012 CA9422700	477	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1301682573 CA405735395	478	P>H		No	gnomAD ClinGen
rs1185974822 CA405735387	479	P>L		No	ClinGen gnomAD
rs370014651 CA9422699	480	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9422698 rs762691899	481	L>F		No	ExAC gnomAD ClinGen
CA308180707 rs141601933	481	L>H		No	ESP TOPMed gnomAD ClinGen
CA405735380 rs762691899	481	L>V		No	ExAC gnomAD ClinGen
rs769768680 CA9422696	482	Q>H		No	ExAC gnomAD ClinGen
rs758463792 CA9422697	482	Q>R		No	ExAC gnomAD ClinGen
rs776755017 CA9422694	485	L>H		No	ClinGen ExAC TOPMed gnomAD
CA405735356 rs1470772997	485	L>V		No	TOPMed ClinGen
rs777861363 CA9422692	486	G>C		No	ClinGen ExAC gnomAD
rs777861363 CA9422691	486	G>S		No	ClinGen ExAC gnomAD
rs772441412 CA9422690	488	D>V		No	ClinGen ExAC gnomAD
rs374192795 CA9422689	489	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs779531947 COSM84524 CA9422688	489	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs374192795 CA405735335	489	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA9422687 rs755610788	490	I>V		No	ClinGen ExAC TOPMed gnomAD
rs367763180 CA308180635	491	T>I		No	ClinGen Ensembl
CA9422686 rs749941515	493	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1463886050 CA405735313	493	P>S		No	TOPMed gnomAD ClinGen
rs138608193 CA9422684	494	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs201526722 CA308180630	495	H>Y		No	ClinGen 1000Genomes
CA9422683 rs751188051	496	V>L		No	ClinGen ExAC TOPMed gnomAD
CA308180624 rs751188051	496	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9422681 rs762783535	498	L>F		No	ExAC gnomAD ClinGen
rs752525142 CA9422680	498	L>P		No	ExAC TOPMed gnomAD ClinGen
CA308180613 rs975526502	499	Q>R		No	TOPMed gnomAD ClinGen
CA9422679 rs765152198	500	Y>D		No	ExAC gnomAD ClinGen
rs562766344 CA9422677	501	I>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA320839 RCV000196422 rs776562420	501	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9422675 rs370749017	502	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs143316017 CA9422673	507	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA405735232 rs779480806	507	R>L		No	ExAC TOPMed gnomAD ClinGen
CA9422672 rs779480806	507	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs143316017 CA9422674	507	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA9422671 rs769158528	508	K>E		No	ClinGen ExAC gnomAD
rs1297973355 CA405735219	509	P>L		No	ClinGen gnomAD
RCV000676526 rs551671819 RCV001795321	511	L>missing		No	ClinVar dbSNP
rs1377458407 CA405735199	513	G>D		No	TOPMed gnomAD ClinGen
CA308180551 rs967611001	513	G>S		No	ClinGen gnomAD
CA405735196 rs1377858088	514	Q>*		No	gnomAD ClinGen
CA405735194 rs1377858088	514	Q>K		No	ClinGen gnomAD
CA405735191 rs1481233791 RCV000676524	514	Q>L		No	ClinGen ClinVar dbSNP gnomAD
rs1481233791 CA405735192	514	Q>R		No	ClinGen gnomAD
CA405735182 rs780741245	516	A>S		No	ExAC TOPMed gnomAD ClinGen
CA9422669 rs780741245	516	A>T		No	ExAC TOPMed gnomAD ClinGen
rs756746675 CA9422667	517	V>E		No	ClinGen ExAC gnomAD
rs1403496997 CA405735177	517	V>I		No	ClinGen TOPMed
rs1161501882 CA405735167	518	S>I		No	ClinGen TOPMed gnomAD
CA405735166 rs1192321814	518	S>R		No	gnomAD ClinGen
CA405735169 rs1161501882	518	S>T		No	ClinGen TOPMed gnomAD

1 associated diseases with Q9NP81

[MIM: 613845]: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS)

A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. {ECO:0000269|PubMed:21255763}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. {ECO:0000269|PubMed:21255763}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9NP81

Type	Name	Position	InterPro Accession
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	292 - 468	IPR002314
domain	Aminoacyl-tRNA synthetase, class II	202 - 478	IPR006195
domain	Serine-tRNA ligase catalytic core domain	185 - 485	IPR033729

Functions

		Description
EC Number	6.1.1.11	Ligases forming aminoacyl-tRNA and related compounds
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.
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.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
RNA binding	Binding to an RNA molecule or a portion thereof.
serine-tRNA ligase activity	Catalysis of the reaction: ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser).
tRNA binding	Binding to a transfer RNA.

3 GO annotations of biological process

Name	Definition
mitochondrial seryl-tRNA aminoacylation	The process of coupling serine to seryl-tRNA in a mitochondrion, catalyzed by seryl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'-adenosine residue of the tRNA.
selenocysteinyl-tRNA(Sec) biosynthetic process	The chemical reactions and pathways resulting in the formation of selenocysteinyl-tRNA(Sec). This process occurs through the following steps: a unique serine-tRNA with a UGA recognizing anticodon is first aminoacylated with serine; this is then phosphorylated by phosphoseryl-tRNA
seryl-tRNA aminoacylation	The process of coupling serine to seryl-tRNA, catalyzed by seryl-tRNA synthetase. The seryl-tRNA synthetase is a class-II synthetase. The activated amino acid is transferred to the 3'-OH group of a serine-accetping tRNA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9N0F3	SARS2	Serine--tRNA ligase, mitochondrial	Bos taurus (Bovine)	PR
Q9JJL8	Sars2	Serine--tRNA ligase, mitochondrial	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAASMARRLW	PLLTRRGFRP	RGGCISNDSP	RRSFTTEKRN	RNLLYEYARE	GYSALPQLDI
70	80	90	100	110	120
ERFCACPEEA	AHALELRKGE	LRSADLPAII	STWQELRQLQ	EQIRSLEEEK	AAVTEAVRAL
130	140	150	160	170	180
LANQDSGEVQ	QDPKYQGLRA	RGREIRKELV	HLYPREAQLE	EQFYLQALKL	PNQTHPDVPV
190	200	210	220	230	240
GDESQARVLH	MVGDKPVFSF	QPRGHLEIGE	KLDIIRQKRL	SHVSGHRSYY	LRGAGALLQH
250	260	270	280	290	300
GLVNFTFNKL	LRRGFTPMTV	PDLLRGAVFE	GCGMTPNANP	SQIYNIDPAR	FKDLNLAGTA
310	320	330	340	350	360
EVGLAGYFMD	HTVAFRDLPV	RMVCSSTCYR	AETNTGQEPR	GLYRVHHFTK	VEMFGVTGPG
370	380	390	400	410	420
LEQSSQLLEE	FLSLQMEILT	ELGLHFRVLD	MPTQELGLPA	YRKFDIEAWM	PGRGRFGEVT
430	440	450	460	470	480
SASNCTDFQS	RRLHIMFQTE	AGELQFAHTV	NATACAVPRL	LIALLESNQQ	KDGSVLVPPA
490	500	510
LQSYLGTDRI	TAPTHVPLQY	IGPNQPRKPG	LPGQPAVS