AiPD: Autoinhibited Protein Database

Q9NVC3

Gene name	SLC38A7 (SNAT7)
Protein name	Putative sodium-coupled neutral amino acid transporter 7
Names	Solute carrier family 38 member 7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55238
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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 Q9NVC3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NVC3-F1	Predicted				AlphaFoldDB

380 variants for Q9NVC3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1156442675 CA396156149	4	V>D		No	ClinGen gnomAD
CA8090791 rs759350057	5	S>N		No	ClinGen ExAC gnomAD
rs750738590 CA8090790	7	N>S		No	ClinGen ExAC
COSM972068 rs370515708 CA8090789	8	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs151075190 CA8090788 RCV000879321	10	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396155977 rs1245982678	12	E>D		No	ClinGen TOPMed gnomAD
CA8090786 rs768740768	12	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1208299494 CA396155956	14	D>N		No	ClinGen TOPMed gnomAD
rs770200248 CA8090783	17	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396155860 rs867215775	19	A>D		No	ClinGen gnomAD
rs867215775 CA281695643	19	A>V		No	ClinGen gnomAD
CA281695639 rs11558679 CA8090780	20	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777182936 CA8090778	22	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM972067 rs377272316 CA8090779	22	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1388905181 CA396155800	23	A>T		No	ClinGen gnomAD
rs748112386 CA8090776	24	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8090775 rs763671950	24	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748112386 CA8090777	24	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8090773 rs535382657	27	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396155699 rs1187708874	30	C>S		No	ClinGen gnomAD
CA8090772 rs766145824	30	C>W		No	ClinGen ExAC gnomAD
rs1244053289 CA396155693	31	V>M		No	ClinGen gnomAD
rs1486679554 CA396155659	33	T>P		No	ClinGen TOPMed
rs1219695883 CA396155642	34	A>D		No	ClinGen gnomAD
CA396155638 rs1219695883	34	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8090771 rs757451661	35	P>A		No	ClinGen ExAC gnomAD
CA8090768 rs751738138	36	K>R		No	ClinGen ExAC gnomAD
TCGA novel	38	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396155567 rs1597679581	39	W>G		No	ClinGen Ensembl
CA396155546 rs1597679566	40	E>K		No	ClinGen Ensembl
rs1340679489 CA396155474	45	G>D		No	ClinGen TOPMed gnomAD
rs764093144 CA8090767	45	G>S		No	ClinGen ExAC gnomAD
rs1340679489 CA396155480 TCGA novel	45	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
VAR_039015 CA8090766 rs7193572	46	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8090765 rs776045854	50	T>I		No	ClinGen ExAC gnomAD
rs1432528796 CA396155403	51	T>S		No	ClinGen TOPMed
rs1290248302 CA396155382	52	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396155375 rs1433873405	53	T>P		No	ClinGen gnomAD
CA396155327 rs1426403715	57	I>F		No	ClinGen gnomAD
CA396155309 rs1375545627	58	F>Y		No	ClinGen TOPMed
CA8090762 rs373267275 COSM192692	60	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8090760 rs372554338	61	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189654636 CA396155241	62	N>I		No	ClinGen gnomAD
CA396155243 rs1189654636	62	N>S		No	ClinGen gnomAD
rs771769316 CA8090758	63	A>T		No	ClinGen ExAC TOPMed gnomAD
CA396155227 rs1224800278	63	A>V		No	ClinGen gnomAD
rs779040411 CA8090756	64	C>F		No	ClinGen ExAC gnomAD
rs942260813 CA281695591	65	L>R		No	ClinGen TOPMed gnomAD
TCGA novel	66	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8090753 rs779717443	66	G>D		No	ClinGen ExAC gnomAD
CA396155105 rs1261117094	71	N>S		No	ClinGen TOPMed
rs910756115 CA281695582	73	P>A		No	ClinGen TOPMed gnomAD
CA396155077 rs910756115	73	P>S		No	ClinGen TOPMed gnomAD
rs1462452458 CA396155010	77	S>G		No	ClinGen gnomAD
CA8090749 VAR_039016 rs7191331	78	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8090748 rs376508664	79	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	81	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8090747 rs761098789	81	G>C		No	ClinGen ExAC TOPMed gnomAD
CA396154944 rs1426134100	81	G>D		No	ClinGen TOPMed gnomAD
rs369038922 CA396154935	82	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090744 rs369038922	82	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs755556671	82	V>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA281695572 rs374940498	83	A>V		No	ClinGen ESP TOPMed gnomAD
CA396154900 rs1382748185	85	G>S		No	ClinGen TOPMed
CA396154886 rs1251208323	85	G>V		No	ClinGen TOPMed gnomAD
CA281695565 rs377080241	87	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090740 rs377080241	87	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761503670 CA8090739	87	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8090736 rs201621133	90	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8090737 rs768213136	90	M>V		No	ClinGen ExAC TOPMed gnomAD
rs768006481 CA8090704	91	G>D		No	ClinGen ExAC gnomAD
rs768006481 CA396153438	91	G>V		No	ClinGen ExAC gnomAD
rs889139249 CA281695326	94	V>A		No	ClinGen TOPMed
rs751321781 CA8090702	94	V>I		No	ClinGen ExAC gnomAD
CA396153366 rs763770135	95	F>S		No	ClinGen ExAC gnomAD
rs763770135 CA8090701	95	F>Y		No	ClinGen ExAC gnomAD
CA8090700 rs775089580	96	I>L		No	ClinGen ExAC TOPMed gnomAD
rs775089580 CA8090699	96	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1405597803 CA396153262	101	V>I		No	ClinGen gnomAD
CA396153216 rs1347518724	104	A>S		No	ClinGen gnomAD
CA8090697 rs759474510	106	C>Y		No	ClinGen ExAC gnomAD
CA396153152 rs1429704389	108	Q>*		No	ClinGen gnomAD
CA396153147 rs1223944868	108	Q>R		No	ClinGen Ensembl
rs1397571863 CA396153133	109	A>P		No	ClinGen gnomAD
CA396153055 rs1170017956	113	R>K		No	ClinGen gnomAD
rs901998698 CA281695316	115	Y>N		No	ClinGen Ensembl
CA396152942 rs1256933057	119	V>A		No	ClinGen TOPMed
CA396152948 rs1464912606	119	V>I		No	ClinGen gnomAD
CA8090695 rs770772701	120	W>*		No	ClinGen ExAC TOPMed gnomAD
CA8090696 rs776496716	120	W>R		No	ClinGen ExAC gnomAD
CA396152903 rs1480466904	122	V>L		No	ClinGen gnomAD
CA396152906 rs1480466904	122	V>M		No	ClinGen gnomAD
CA8090694 rs142979677	123	C>S		No	ClinGen ESP ExAC TOPMed
rs1182642930 CA396152840	126	L>P		No	ClinGen TOPMed gnomAD
rs1475924193 CA396152787	128	G>V		No	ClinGen TOPMed
rs1270443489 CA396152767	130	L>V		No	ClinGen gnomAD
CA8090690 rs749426989	131	C>G		No	ClinGen ExAC gnomAD
CA8090689 rs749426989	131	C>R		No	ClinGen ExAC gnomAD
rs1597677349 CA396152720	133	V>L		No	ClinGen Ensembl
CA396152677 rs1188811417	134	A>G		No	ClinGen TOPMed
rs1273376109 CA396152701	134	A>T		No	ClinGen gnomAD
CA8090687 rs199648800	135	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8090685 rs181440783	136	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566409558 CA8090684	136	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8090682 rs376952907	138	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396152599 rs1286534719	139	T>I		No	ClinGen gnomAD
rs1409685571 CA396152584	140	F>V		No	ClinGen gnomAD
rs764817539 CA8090679	141	G>D		No	ClinGen ExAC gnomAD
rs1336852825 CA396152574	141	G>R		No	ClinGen gnomAD
rs1054128496 CA281695287	144	I>V		No	ClinGen Ensembl
rs776619677 CA8090677	145	A>T		No	ClinGen ExAC gnomAD
rs1369121417 CA396152490	149	I>T		No	ClinGen TOPMed
CA8090674 rs141565697	149	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372646219 CA8090672	150	I>M		No	ClinGen ESP ExAC gnomAD
CA8090673 rs771694958	150	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1256704901 CA396152474	151	G>S		No	ClinGen TOPMed
CA8090670 rs769982269	152	D>G		No	ClinGen ExAC gnomAD
CA396152464 rs1203918459	152	D>N		No	ClinGen TOPMed
rs1284103426 CA396152443	154	Q>E		No	ClinGen TOPMed
rs745911792 CA8090669	156	K>R		No	ClinGen ExAC TOPMed gnomAD
CA396152397 rs1242332362	157	I>V		No	ClinGen gnomAD
CA8090651 rs770118025	158	I>T		No	ClinGen ExAC gnomAD
CA8090652 rs375792107	158	I>V		No	ClinGen ESP ExAC gnomAD
CA396152319 rs1460690450	159	A>D		No	ClinGen TOPMed
TCGA novel	159	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396152277 rs148206922	162	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8090650 rs148206922	162	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1016749948 CA281695206	165	P>L		No	ClinGen TOPMed gnomAD
rs1364878908 CA396152211	166	E>*		No	ClinGen gnomAD
CA281695202 rs950891851	166	E>A		No	ClinGen Ensembl
CA8090646 rs199742400	167	G>R		No	ClinGen ExAC TOPMed gnomAD
CA281695196 rs778680314	168	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8090643 rs778680314	168	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396152169 rs1245909822	169	S>C		No	ClinGen TOPMed
CA8090641 rs370454103	170	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219449640 CA396152135	171	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396152125 rs1490226361	172	W>*		No	ClinGen gnomAD
rs1017817000 CA281695187	172	W>G		No	ClinGen Ensembl
rs1293112865 CA396152100	173	Y>C		No	ClinGen gnomAD
rs779550123 CA8090640	174	T>I		No	ClinGen ExAC gnomAD
rs143031096 CA8090639	175	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090638 rs750440739	176	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8090637 rs143368156	176	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA396152056 rs1271636330	177	K>R		No	ClinGen gnomAD
rs763941676 CA396152021	179	T>I		No	ClinGen ExAC TOPMed gnomAD
CA396152024 rs763941676	179	T>N		No	ClinGen ExAC TOPMed gnomAD
rs763941676 CA8090634	179	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396151947 rs1369947402	186	L>V		No	ClinGen TOPMed
CA396151893 rs1189745100	190	P>S		No	ClinGen gnomAD
CA396151874 rs1371280521	192	S>A		No	ClinGen TOPMed
rs2431189 CA281695166	193	I>T		No	ClinGen Ensembl
rs772440340 CA8090628	195	R>K		No	ClinGen ExAC gnomAD
CA8090627 rs748643962	197	I>T		No	ClinGen ExAC gnomAD
rs1232865908 CA396151831	198	G>S		No	ClinGen gnomAD
CA8090626 rs779250068	201	K>Q		No	ClinGen ExAC gnomAD
CA396151785 rs1309671050	204	S>N		No	ClinGen gnomAD
CA8090607 rs769073245	206	L>P		No	ClinGen ExAC gnomAD
CA8090605 rs775170555	208	V>I	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396151627 rs1597675091	209	V>A		No	ClinGen Ensembl
rs150179301 CA281694935	209	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150179301 CA8090602	209	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756734223 CA8090601	211	T>A		No	ClinGen ExAC TOPMed gnomAD
CA396151591 rs1160423533	212	W>G		No	ClinGen TOPMed gnomAD
rs777851668 CA8090599	214	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758310485 CA8090598	217	I>V		No	ClinGen ExAC gnomAD
CA8090596 rs765079849	218	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8090594 rs567627870	219	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396151492 rs1250906802	219	I>V		No	ClinGen TOPMed
rs1366466608 CA396151480	220	I>T		No	ClinGen TOPMed
CA396151485 rs1161102659	220	I>V		No	ClinGen TOPMed
rs1457638394 CA396151473	221	K>E		No	ClinGen TOPMed
CA8090593 rs767548877	223	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8090591 rs774876367	224	W>*		No	ClinGen ExAC gnomAD
CA8090592 rs774876367	224	W>L		No	ClinGen ExAC gnomAD
rs764560401 CA8090590	228	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	230	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396151349 rs1383315206	230	T>S		No	ClinGen TOPMed gnomAD
CA8090588 rs377434637	231	P>L		No	ClinGen ESP ExAC gnomAD
CA8090587 rs150999581	232	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306421127 CA396151284	233	N>S		No	ClinGen Ensembl
rs549071044 CA8090585	234	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA396151034 rs1567472691	237	R>S		No	ClinGen Ensembl
rs765578855 CA8090568	238	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753144762 CA8090569	238	P>S		No	ClinGen ExAC gnomAD
rs1470476221 CA396151020	239	A>S		No	ClinGen TOPMed
rs1170765398 CA396151000	240	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770597846 CA8090565	242	M>I		No	ClinGen ExAC gnomAD
rs776188670 CA8090566	242	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8090564 rs760358313	243	A>S		No	ClinGen ExAC gnomAD
CA396150830 rs960126809 CA281694577	248	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	250	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396150800 rs1193856020	251	I>T		No	ClinGen gnomAD
CA396150788 COSM3741961 rs1338552183	252	C>Y	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA396150748 rs1229916918	254	G>A		No	ClinGen TOPMed gnomAD
CA8090562 rs748856352	254	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396150747 rs1229916918	254	G>V		No	ClinGen TOPMed gnomAD
rs1238994228 CA396150623	259	V>I		No	ClinGen gnomAD
rs759868524 CA8090549	260	S>I		No	ClinGen ExAC TOPMed gnomAD
CA396150581 rs1331310562	261	S>N		No	ClinGen TOPMed gnomAD
rs1567472483 CA396150550	263	P>L		No	ClinGen Ensembl
rs866050493 CA281694503	263	P>S		No	ClinGen Ensembl
CA8090548 COSM2993004 rs754254080	264	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	265	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8090547 rs766616017	268	M>I		No	ClinGen ExAC
rs1161181691 CA396150467	268	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1335724671 CA396150416	269	Q>H		No	ClinGen TOPMed gnomAD
rs1469847658 CA396150394	271	P>T		No	ClinGen gnomAD
CA396150353 rs1304812672	272	E>D		No	ClinGen TOPMed
CA396150344 rs760411644 CA8090545	273	V>L		No	ClinGen ExAC TOPMed gnomAD
rs374759417 CA8090542	276	W>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	278	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442587795 CA396150245	279	V>A		No	ClinGen gnomAD
rs1244026459 CA396150216	281	T>S		No	ClinGen TOPMed
rs1242731532 CA396150199	282	A>V		No	ClinGen gnomAD
TCGA novel	283	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8090541 rs140010248	284	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204568981 CA396150186	284	M>V		No	ClinGen gnomAD
rs768658865 CA8090540	285	V>D		No	ClinGen ExAC gnomAD
CA396150162 rs1282247319	285	V>I		No	ClinGen gnomAD
rs960550222 CA281694487	286	I>V		No	ClinGen TOPMed
CA396150128 rs1352016577	287	A>V		No	ClinGen gnomAD
rs548966038 CA8090539	288	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8090538 rs779902963	288	L>P		No	ClinGen ExAC gnomAD
rs868782902 CA281694481	289	A>T		No	ClinGen TOPMed gnomAD
rs1324148550 CA396150095	290	V>G		No	ClinGen gnomAD
CA396150058 rs1452958448	292	M>L		No	ClinGen gnomAD
CA396150051 rs1597672452	292	M>R		No	ClinGen Ensembl
rs1452958448 CA396150055	292	M>V		No	ClinGen gnomAD
CA396150028 rs1341670520	294	T>A		No	ClinGen gnomAD
rs1315595934 CA396150020	294	T>I		No	ClinGen gnomAD
CA396148676 rs756936849	296	I>M		No	ClinGen ExAC gnomAD
rs767951321 CA8090485	296	I>V		No	ClinGen ExAC gnomAD
rs865964792 CA281693111	298	G>C		No	ClinGen Ensembl
rs751114657 CA8090483	299	F>Y		No	ClinGen ExAC gnomAD
CA281693106 rs570338430	303	G>E		No	ClinGen 1000Genomes gnomAD
CA396148504 rs1567470553	303	G>R		No	ClinGen Ensembl
rs370888986 CA281693100	304	A>P		No	ClinGen Ensembl
CA396148469 rs1220906076	305	A>T		No	ClinGen gnomAD
rs763717219 CA8090482	305	A>V		No	ClinGen ExAC gnomAD
CA396148422 rs1447322792	307	D>H		No	ClinGen gnomAD
CA8090480 rs775471836	308	P>T		No	ClinGen ExAC gnomAD
COSM1378701 rs1469310878 CA396148273	310	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1359848664 CA396148240	311	L>P		No	ClinGen gnomAD
rs762321865 CA281693076	314	Y>C		No	ClinGen TOPMed gnomAD
CA281693079 rs984810699	314	Y>H		No	ClinGen TOPMed
CA396148172 rs1407962880	315	P>T		No	ClinGen gnomAD
rs998526954 CA281693074	316	S>L		No	ClinGen TOPMed gnomAD
CA396148094 rs1239597743	318	D>G		No	ClinGen TOPMed gnomAD
CA396148072 rs1185515734	319	M>I		No	ClinGen TOPMed
rs369915497 CA8090477	319	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090478 rs759409044	319	M>V		No	ClinGen ExAC TOPMed gnomAD
CA396148069 rs1256079803	320	A>T		No	ClinGen gnomAD
CA281693060 rs749703806	321	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8090475 rs749703806	321	V>M		No	ClinGen ExAC TOPMed gnomAD
CA396148020 rs372860415	323	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090473 rs372860415	323	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA281693051 rs894280151	325	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8090472 rs749319510	325	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8090471 rs570530439	326	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8090470 rs570530439	326	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1379908114 CA396147972	327	F>L		No	ClinGen gnomAD
CA396147945 rs1304643659	328	I>M		No	ClinGen gnomAD
CA396147917 rs1451799989	330	L>P		No	ClinGen gnomAD
CA281693035 rs938062870	332	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396147878 rs1421857883	333	L>F		No	ClinGen gnomAD
rs1383817266 CA396147872	333	L>P		No	ClinGen gnomAD
CA396147867 rs1597666705	334	T>P		No	ClinGen Ensembl
CA396147833 rs1597666688	336	Y>S		No	ClinGen Ensembl
rs1443646992 CA396147822	337	P>L		No	ClinGen gnomAD
rs781708373 CA8090468	340	H>Y		No	ClinGen ExAC gnomAD
rs745888167 CA281692997	342	C>Y		No	ClinGen Ensembl
TCGA novel	344	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396147741 rs1217285818	344	R>P		No	ClinGen gnomAD
CA396147740 rs1217285818	344	R>Q		No	ClinGen gnomAD
CA396147743 rs1260021496	344	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778140612 CA396147041	345	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1597665526 CA396147047	345	A>T		No	ClinGen Ensembl
rs778140612 CA8090448	345	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1198107510 CA396147031	346	V>A		No	ClinGen gnomAD
CA8090446 rs752304372	349	G>S		No	ClinGen ExAC gnomAD
TCGA novel	351	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396146964 rs1290859902	352	L>V		No	ClinGen TOPMed
CA281692581 rs753809055	353	R>C		No	ClinGen ExAC gnomAD
CA8090443 rs753809055	353	R>G		No	ClinGen ExAC gnomAD
rs148567685 CA8090442	353	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200574180 CA396146927	355	Q>L		No	ClinGen gnomAD
rs760607141 CA8090441	356	G>R		No	ClinGen ExAC TOPMed gnomAD
rs889105642 CA281692565	357	V>A		No	ClinGen Ensembl
rs767307176 CA8090439	357	V>L		No	ClinGen ExAC gnomAD
CA8090438 rs763292601	359	V>M		No	ClinGen ExAC TOPMed gnomAD
rs370445471 CA396146800	362	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA396146795 rs1597665451	363	V>G		No	ClinGen Ensembl
rs200631136 CA8090436	363	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466689853 CA396146775	365	R>Q		No	ClinGen TOPMed gnomAD
CA8090435 rs374267248	365	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs771355373 CA8090433	367	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs143684477 CA8090434	367	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773478418 CA8090431	368	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747481295 CA8090432	368	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747844837 CA8090429	369	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772371078 CA8090430 COSM972063	369	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8090428 rs778503285	370	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754546074 CA8090427	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396146668 rs1597665385	371	V>G		No	ClinGen Ensembl
rs1177422700 CA396146673	371	V>L		No	ClinGen gnomAD
rs371057866 CA8090424	373	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8090423 rs750328473	374	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8090422 rs750328473	374	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1567469891 CA396146621	374	T>S		No	ClinGen Ensembl
CA8090420 rs757088162	376	V>I		No	ClinGen ExAC gnomAD
rs1448540025 CA396146479	381	T>I		No	ClinGen gnomAD
CA8090418 rs765542484	382	L>M		No	ClinGen ExAC gnomAD
rs1019404981 CA281692495	385	A>V		No	ClinGen TOPMed gnomAD
CA8090417 rs759774108	386	L>F		No	ClinGen ExAC gnomAD
rs1597665297 CA396146385	387	F>C		No	ClinGen Ensembl
rs1418815263 CA396146354	389	P>T		No	ClinGen gnomAD
CA396146301 rs1226467885	391	I>V		No	ClinGen TOPMed
rs761106367 CA396146268	392	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8090414 rs761106367	392	G>S		No	ClinGen ExAC TOPMed gnomAD
rs773744363 CA8090412	396	S>A		No	ClinGen ExAC gnomAD
CA396146179 rs1257073784	396	S>L		No	ClinGen TOPMed
rs781118550 CA8090413	396	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1444245710 CA396146149	398	I>T		No	ClinGen gnomAD
CA396146133 rs1260194584	399	G>A		No	ClinGen TOPMed gnomAD
rs1260194584 CA396146134	399	G>E		No	ClinGen TOPMed gnomAD
CA281692470 rs891872150	400	G>D		No	ClinGen TOPMed
CA396146129 rs1216562602	400	G>S		No	ClinGen gnomAD
rs1597665252 CA396146104	402	A>T		No	ClinGen Ensembl
CA8090409 rs370282423	403	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370282423 CA8090408	403	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8090407 rs748934257	403	A>V		No	ClinGen ExAC gnomAD
rs1283281052 CA396146054	405	F>L		No	ClinGen gnomAD
CA396146053 rs1283281052	405	F>V		No	ClinGen gnomAD
rs1169647545 CA396146026	406	I>F		No	ClinGen TOPMed
CA396146022 rs1448099701	406	I>S		No	ClinGen gnomAD
rs779455409 CA8090406	407	F>L		No	ClinGen ExAC gnomAD
CA396146003 rs745835014	408	V>F		No	ClinGen ExAC gnomAD
CA8090404 rs745835014	408	V>I		No	ClinGen ExAC gnomAD
rs781186126 CA8090403	409	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1361150530 CA396145997	409	F>L		No	ClinGen gnomAD
CA396145981 rs1422558779	410	P>L		No	ClinGen gnomAD
rs1567469388 CA396145779	411	G>V		No	ClinGen Ensembl
CA281692116 rs775654419	412	L>P		No	ClinGen TOPMed gnomAD
rs1243259583 CA396145729	414	L>V		No	ClinGen Ensembl
CA8090381 rs758186812	415	I>T		No	ClinGen ExAC gnomAD
CA396145645 rs1174824249	417	A>G		No	ClinGen gnomAD
CA8090380 rs754045767	422	M>I		No	ClinGen ExAC gnomAD
CA8090379 rs780314890	423	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780314890 CA396145493	423	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1292262218 CA396145380	427	P>L		No	ClinGen TOPMed
rs756202433 CA8090378	427	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8090363 rs747957513	430	W>*		No	ClinGen ExAC gnomAD
CA396144421 rs1356082868	431	W>C		No	ClinGen gnomAD
CA281690968 rs544391406	432	V>M		No	ClinGen 1000Genomes
rs778510240 CA8090362	434	V>A		No	ClinGen ExAC gnomAD
CA8090361 rs756393885	435	S>G		No	ClinGen ExAC gnomAD
rs377336010 CA8090360	435	S>I		No	ClinGen ESP ExAC gnomAD
rs757299833 CA8090358	437	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs149442475 CA281690960	437	G>V		No	ClinGen ESP
CA8090356 rs756773329	439	L>F	Variant assessed as Somatic; 0.0001852 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1392731724 CA396144149	440	L>F		No	ClinGen TOPMed
CA8090355 rs555568883	440	L>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	444	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396144010 rs1567467821	445	A>T		No	ClinGen Ensembl
rs1295371559 CA396143996	445	A>V		No	ClinGen gnomAD
rs1183470051 CA396143915	448	F>V		No	ClinGen gnomAD
CA8090351 rs377594326	449	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373393552 CA281690954	450	Q>R		No	ClinGen ESP TOPMed
CA8090349 rs760255911	452	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760255911 CA396143808	452	T>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	453	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139988374 CA8090346	454	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA396143760 rs1216950371	455	A>T		No	ClinGen TOPMed gnomAD
rs768316255 CA8090344	458	V>G		No	ClinGen ExAC gnomAD
CA281690942 rs1002393071	458	V>M		No	ClinGen TOPMed
CA396143674 rs1597660179	459	D>A		No	ClinGen Ensembl
CA281690936 rs906667317	459	D>N		No	ClinGen TOPMed gnomAD
CA396143656 rs1240839108	460	L>F		No	ClinGen TOPMed
rs557456174 CA8090343	462	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781390038 CA8090342	463	A>L		No	ClinGen ExAC gnomAD

No associated diseases with Q9NVC3

1 regional properties for Q9NVC3

Type	Name	Position	InterPro Accession
domain	Amino acid transporter, transmembrane domain	50 - 447	IPR013057

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane ; Multi-pass membrane protein Cell projection, axon	In neurons, located in soma
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.

10 GO annotations of molecular function

Name	Definition
L-alanine transmembrane transporter activity	Enables the transfer of L-alanine from one side of a membrane to the other. L-alanine is the L-enantiomer of 2-aminopropanoic acid.
L-amino acid transmembrane transporter activity	Enables the transfer of an L-amino acid from one side of a membrane to the other. L-amino acids are the L-enantiomers of amino acids.
L-asparagine transmembrane transporter activity	Enables the transfer of L-asparagine from one side of a membrane to the other. L-asparagine is the L-enantiomer of alpha-aminosuccinamic acid.
L-aspartate transmembrane transporter activity	Enables the transfer of L-aspartate from one side of a membrane to the other. L-aspartate is the anion derived from aspartic acid.
L-glutamate transmembrane transporter activity	Enables the transfer of L-glutamate from one side of a membrane to the other. L-glutamate is the anion of 2-aminopentanedioic acid.
L-glutamine transmembrane transporter activity	Enables the transfer of L-glutamine from one side of a membrane to the other. L-glutamine is 2-amino-4-carbamoylbutanoic acid.
L-histidine transmembrane transporter activity	Enables the transfer of L-histidine from one side of a membrane to the other. L-histidine is 2-amino-3-(1H-imidazol-4-yl)propanoic acid.
L-leucine transmembrane transporter activity	Enables the transfer of L-leucine from one side of a membrane to the other. L-leucine is 2-amino-4-methylpentanoic acid.
L-methionine transmembrane transporter activity	Enables the transfer of L-methionine from one side of a membrane to the other. L-methionine is 2-amino-4-(methylthio)butanoic acid.
L-serine transmembrane transporter activity	Enables the transfer of L-serine from one side of a membrane to the other. L-serine is the L-enantiomer of 2-amino-3-hydroxypropanoic acid.

2 GO annotations of biological process

Name	Definition
amino acid transmembrane transport	The process in which an amino acid is transported across a membrane.
sodium ion transport	The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z2H8	SLC36A1	Proton-coupled amino acid transporter 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAQVSINNDY	SEWDLSTDAG	ERARLLQSPC	VDTAPKSEWE	ASPGGLDRGT	TSTLGAIFIV
70	80	90	100	110	120
VNACLGAGLL	NFPAAFSTAG	GVAAGIALQM	GMLVFIISGL	VILAYCSQAS	NERTYQEVVW
130	140	150	160	170	180
AVCGKLTGVL	CEVAIAVYTF	GTCIAFLIII	GDQQDKIIAV	MAKEPEGASG	PWYTDRKFTI
190	200	210	220	230	240
SLTAFLFILP	LSIPREIGFQ	KYASFLSVVG	TWYVTAIVII	KYIWPDKEMT	PGNILTRPAS
250	260	270	280	290	300
WMAVFNAMPT	ICFGFQCHVS	SVPVFNSMQQ	PEVKTWGGVV	TAAMVIALAV	YMGTGICGFL
310	320	330	340	350	360
TFGAAVDPDV	LLSYPSEDMA	VAVARAFIIL	SVLTSYPILH	FCGRAVVEGL	WLRYQGVPVE
370	380	390	400	410	420
EDVGRERRRR	VLQTLVWFLL	TLLLALFIPD	IGKVISVIGG	LAACFIFVFP	GLCLIQAKLS
430	440	450	460
EMEEVKPASW	WVLVSYGVLL	VTLGAFIFGQ	TTANAIFVDL	LA