AiPD: Autoinhibited Protein Database

Q9H598

Gene name	SLC32A1
Protein name	Vesicular inhibitory amino acid transporter
Names	GABA and glycine transporter, Solute carrier family 32 member 1, Vesicular GABA transporter, hVIAAT
Species	Homo sapiens (Human)
KEGG Pathway	hsa:140679
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

57-137 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

57-137 (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 Q9H598

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H598-F1	Predicted				AlphaFoldDB

342 variants for Q9H598

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2084268435 RCV001260927	43	G>C	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
rs2084283325 RCV001260923	263	V>A	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
rs2084284179 RCV001260921	330	M>T	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
rs1276643179 CA408906997 RCV001260926	445	L>F	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001260924 rs2084286884	461	G>D	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
RCV002291725 RCV001260922 rs2084286911	464	T>R	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
rs2084286949 RCV001260925	465	G>S	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
RCV001260920 rs2084286998	468	L>P	Generalized epilepsy with febrile seizures plus [ClinVar]	Yes	ClinVar dbSNP
TCGA novel	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855229 rs757775261	3	T>N		No	ClinGen ExAC gnomAD
rs779446777 CA9855230	4	L>F		No	ClinGen ExAC gnomAD
rs746574042 CA9855231	5	L>I		No	ClinGen ExAC gnomAD
rs776050127 CA9855233	6	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA408900733 rs376758221	6	R>H		No	ClinGen ESP TOPMed gnomAD
CA314424619 rs376758221	6	R>L		No	ClinGen ESP TOPMed gnomAD
rs1327082135 CA408900745	8	K>E		No	ClinGen gnomAD
TCGA novel	11	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855234 rs747808159	12	V>M		No	ClinGen ExAC gnomAD
rs1373584121 CA408900819	13	A>V		No	ClinGen gnomAD
CA408900854 rs1271036386	16	V>L		No	ClinGen gnomAD
rs1336592004 CA408900881	17	S>F		No	ClinGen gnomAD
rs894838964 CA314424627	18	N>K		No	ClinGen TOPMed
rs1601180768 CA408900888	18	N>S		No	ClinGen Ensembl
rs769470578 CA9855235	22	A>T		No	ClinGen ExAC TOPMed gnomAD
rs977047799 CA314424636	22	A>V		No	ClinGen TOPMed gnomAD
CA9855236 rs772946332	24	M>I		No	ClinGen ExAC TOPMed gnomAD
CA9855237 rs762777530	26	G>S		No	ClinGen ExAC TOPMed gnomAD
rs766274199 CA9855238	26	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9855239 rs774450761	27	M>I		No	ClinGen ExAC TOPMed gnomAD
CA314424650 rs1025178743	27	M>K		No	ClinGen Ensembl
CA408901044 rs1234723662	27	M>V		No	ClinGen TOPMed gnomAD
CA9855240 rs759507627	29	A>S		No	ClinGen ExAC TOPMed gnomAD
rs966485237 CA314424652	31	M>I		No	ClinGen TOPMed
CA408901153 rs1415955522	32	G>S		No	ClinGen gnomAD
rs1164217464 CA408901248	35	A>E		No	ClinGen gnomAD
CA9855242 rs752767012	37	T>A		No	ClinGen ExAC TOPMed gnomAD
CA314424658 rs780236153	37	T>K		No	ClinGen TOPMed gnomAD
CA314424660 rs780236153	37	T>M		No	ClinGen TOPMed gnomAD
CA9855244 rs764377141	38	D>G		No	ClinGen ExAC gnomAD
rs201398803 CA9855245	39	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9855246 rs757622373	41	A>V		No	ClinGen ExAC gnomAD
rs1601180843 CA408901398	42	V>G		No	ClinGen Ensembl
rs1233632821 CA408901389	42	V>L		No	ClinGen gnomAD
rs1337342975 CA408901447	44	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1568627585 CA408901452	45	A>P		No	ClinGen Ensembl
rs1323079141 CA408901502	46	H>R		No	ClinGen gnomAD
rs911122417 CA314424680	47	C>S		No	ClinGen Ensembl
rs1275197837 CA408901639	50	L>V		No	ClinGen gnomAD
rs1324797313 CA408901683	51	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	51	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855249 rs758842716	53	E>A		No	ClinGen ExAC gnomAD
CA408901811 rs1255607270	55	R>L		No	ClinGen gnomAD
CA408901831 rs1430070291	56	Q>L		No	ClinGen gnomAD
rs769370986 CA9855252	57	G>D		No	ClinGen ExAC TOPMed gnomAD
CA408901848 rs769370986	57	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772898796 CA9855253	59	Q>R		No	ClinGen ExAC gnomAD
rs1474713163 CA408901922	61	D>H		No	ClinGen gnomAD
rs918705697 CA314424701	64	K>E		No	ClinGen TOPMed gnomAD
CA408901984 rs1391341786	65	A>T		No	ClinGen TOPMed gnomAD
rs1433508942 CA408902020	66	E>D		No	ClinGen gnomAD
CA9855254 rs748843338	67	G>E		No	ClinGen ExAC gnomAD
CA408902028 rs1165613944	67	G>R		No	ClinGen TOPMed
CA9855255 rs770789897	68	E>K		No	ClinGen ExAC gnomAD
rs1396298373 CA408902065	69	P>S		No	ClinGen TOPMed gnomAD
rs759562550 CA9855257	72	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM577465 CA314424719 rs775782051	73	E>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9855259 rs775782051	73	E>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1326747 rs1483624176 CA408902191	74	G>D	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	74	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148951877 CA9855260	75	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408902196 rs148951877	75	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408902205 rs1347085642	76	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9855262 rs754116848	78	P>S		No	ClinGen ExAC gnomAD
CA408902318 rs376820879	83	I>F		No	ClinGen ESP ExAC gnomAD
rs376820879 CA9855265	83	I>L		No	ClinGen ESP ExAC gnomAD
rs370067437 CA9855266	84	H>Y		No	ClinGen ESP ExAC gnomAD
TCGA novel	85	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408902445 rs1322496611	94	P>S		No	ClinGen gnomAD
CA9855267 rs551108790	95	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	95	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408902468 rs1466225482	97	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1055910462 CA314424769	98	S>C		No	ClinGen TOPMed gnomAD
rs937492399 CA314424772	100	D>Y		No	ClinGen Ensembl
CA408902524 rs1157562457	101	Q>L		No	ClinGen TOPMed gnomAD
CA9855268 rs752195345	102	V>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	106	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748975423 CA9855271 COSM1411714	107	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA314424784 rs749367198	109	G>R		No	ClinGen Ensembl
CA314424792 rs1056003091	110	G>D		No	ClinGen Ensembl
CA9855276 rs775548792	113	K>R		No	ClinGen ExAC TOPMed gnomAD
CA408902779 rs1601181031	124	N>D		No	ClinGen Ensembl
TCGA novel	126	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855279 rs527517348	127	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA408902852 rs1292846379	129	I>S		No	ClinGen TOPMed
rs762148090 CA9855280	129	I>V		No	ClinGen ExAC gnomAD
CA408902873 rs1461040126	130	Q>H		No	ClinGen TOPMed
CA408903627 rs1484509288	131	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408903620 rs1256321919	131	G>S		No	ClinGen gnomAD
CA408903675 rs1189773827	135	L>V		No	ClinGen TOPMed gnomAD
rs1168149433 CA408903703	138	P>L		No	ClinGen gnomAD
rs1431652117 CA408903721	140	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769891542 CA9855318	143	H>R		No	ClinGen ExAC gnomAD
CA9855317 rs748027578	143	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1304945532 CA408903771	144	G>R		No	ClinGen gnomAD
rs1380430578 CA408903782	145	G>R		No	ClinGen gnomAD
CA9855320 rs749524268	146	Y>F		No	ClinGen ExAC gnomAD
rs1279053628 CA408903829	148	G>E		No	ClinGen gnomAD
rs771130109 CA408903831	149	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9855322 rs774846233	151	L>V		No	ClinGen ExAC gnomAD
rs1490682237 CA408903876	152	I>F		No	ClinGen gnomAD
CA408903889 rs1485387558	153	I>V		No	ClinGen gnomAD
rs768121561 CA9855324	157	V>I		No	ClinGen ExAC gnomAD
rs1450043884 CA408903979	158	V>G		No	ClinGen gnomAD
rs1219832962 CA408903966	158	V>M		No	ClinGen gnomAD
rs867610504 CA314431588	163	G>D		No	ClinGen Ensembl
TCGA novel	163	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761227662 CA9855326	168	A>S		No	ClinGen ExAC TOPMed gnomAD
CA408904169 rs761227662	168	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1026691 rs968205956 CA314431596	168	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs758187434 CA9855329	172	E>G		No	ClinGen ExAC gnomAD
rs764847103 CA9855327	172	E>K		No	ClinGen ExAC gnomAD
rs764847103 CA9855328	172	E>Q		No	ClinGen ExAC gnomAD
CA408904256 rs1302059218	173	E>D		No	ClinGen gnomAD
rs377010570 CA9855330	173	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759565716 CA9855331 CA314431637	174	N>K		No	ClinGen ExAC TOPMed gnomAD
rs780997867 CA408904299 CA314431642	176	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1220464417 CA408904286	176	D>N		No	ClinGen gnomAD
rs1051897820 CA314431651	177	G>A		No	ClinGen gnomAD
rs752635600 CA9855334	177	G>S		No	ClinGen ExAC gnomAD
rs1601182448 CA408904339	180	V>G		No	ClinGen Ensembl
rs886696860 CA314431653	182	V>L		No	ClinGen Ensembl
CA408904369 rs1313408853	184	D>N		No	ClinGen TOPMed
rs1251065489 CA408904381	185	S>T		No	ClinGen gnomAD
rs777888313 CA9855336	186	Y>*		No	ClinGen ExAC gnomAD
CA408904410 rs1465427136	187	V>E		No	ClinGen TOPMed
rs1362640908 CA408904407	187	V>L		No	ClinGen gnomAD
rs1358670501 CA408904428	189	I>T		No	ClinGen TOPMed
rs922868461 CA314431657	190	A>G		No	ClinGen TOPMed
rs1400399949 CA408904433	190	A>T		No	ClinGen gnomAD
rs749366553 CA9855337	192	A>D		No	ClinGen ExAC gnomAD
CA408904454 rs1568628311	192	A>S		No	ClinGen Ensembl
TCGA novel	192	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855338 rs140808070	193	C>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	193	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411899232 CA408904478	194	C>S		No	ClinGen TOPMed
rs778982202 CA9855339	195	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778982202 CA408904493	195	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772357025 CA9855341	196	P>L		No	ClinGen ExAC gnomAD
rs1274967586 CA408904507	196	P>S		No	ClinGen TOPMed gnomAD
CA9855342 rs775935038	199	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761280843 CA9855343	200	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761280843 CA9855344	200	T>M		No	ClinGen ExAC TOPMed gnomAD
CA408904538 rs761280843	200	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	201	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767228334 CA9855350	205	V>M		No	ClinGen ExAC gnomAD
rs201506462 CA9855351	207	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9855352 rs756110955	208	V>A		No	ClinGen ExAC gnomAD
TCGA novel	208	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	211	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323625630 CA408904744	219	I>T		No	ClinGen gnomAD
rs1420501445 CA408904826	225	S>G		No	ClinGen TOPMed
CA9855360 rs567071470	226	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA408904864 rs1291265376	227	N>S		No	ClinGen gnomAD
CA408904895 rs1601182568	229	M>I		No	ClinGen Ensembl
CA408904891 rs1165876096	229	M>T		No	ClinGen TOPMed
CA9855361 rs769332696	230	Y>H		No	ClinGen ExAC gnomAD
CA9855362 rs777297939	236	L>M		No	ClinGen ExAC TOPMed gnomAD
CA408904950 COSM1533341 rs1203140609 CA408904951	238	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated gnomAD NCI-TCGA
CA408904959 rs1254196187	239	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759168820 CA9855366	240	Q>H		No	ClinGen ExAC gnomAD
rs767194991 CA9855367	244	S>C		No	ClinGen ExAC gnomAD
rs1187650504 CA408904991	244	S>T		No	ClinGen gnomAD
CA408904996 rs1236966151	245	I>L		No	ClinGen TOPMed
CA9855371 rs753806917	250	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763830019 CA9855370	250	V>L		No	ClinGen ExAC gnomAD
TCGA novel	256	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199839263 CA9855373	259	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs750507253 CA9855374	262	A>T		No	ClinGen ExAC gnomAD
rs747176135 CA9855377	265	K>R		No	ClinGen ExAC gnomAD
CA408905151 rs1361021691	269	L>V		No	ClinGen gnomAD
CA9855379 rs752695840	271	T>A		No	ClinGen ExAC TOPMed gnomAD
rs748614601 CA9855380 CA9855382	275	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM3357250 CA314431809 rs1023170011	276	V>I	Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA314431811 rs867501655	277	I>L		No	ClinGen gnomAD
CA408905218 rs1343123233	279	I>M		No	ClinGen TOPMed gnomAD
rs1377762542 CA408905225	281	V>I		No	ClinGen TOPMed
CA9855384 rs371391027	283	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA314431825 rs1003447285	284	Y>N		No	ClinGen TOPMed
CA9855385 rs770948234	285	C>G		No	ClinGen ExAC gnomAD
TCGA novel	287	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142717620 CA408905267	288	R>G		No	ClinGen ESP gnomAD
CA9855386 rs775147981	288	R>Q		No	ClinGen ExAC gnomAD
rs763883310 CA9855388	290	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1403936608 CA408905288	291	D>E		No	ClinGen gnomAD
COSM1026693 CA9855389 rs776433678	291	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA408905304 rs1414787318 COSM1326746	293	A>V	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761719417 CA9855390	294	W>G		No	ClinGen ExAC gnomAD
CA408905338 rs1243113122	295	E>D		No	ClinGen gnomAD
COSM1026694 CA314431859 rs200060849	299	F>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA408905398 rs1362916582	300	Y>H		No	ClinGen gnomAD
rs1003127033 CA314431867	301	I>N		No	ClinGen Ensembl
rs1299907122 CA408905422	302	D>H		No	ClinGen gnomAD
CA9855392 rs750514398	305	K>E		No	ClinGen ExAC gnomAD
TCGA novel	309	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290656795 CA408905534	310	I>T		No	ClinGen gnomAD
CA9855394 rs758524437	313	I>M		No	ClinGen ExAC gnomAD
rs1201369045 CA408905570	314	V>M		No	ClinGen gnomAD
CA408905598 rs1284084095	316	S>G		No	ClinGen gnomAD
rs1161925841 CA408905695	321	I>V		No	ClinGen TOPMed
TCGA novel	324	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408905854 rs1478178270	329	N>S		No	ClinGen gnomAD
CA9855401 rs749710984	331	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1209081845 CA408905931 COSM315300	332	Q>H	lung autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed
rs771604217 CA9855402	333	P>R		No	ClinGen ExAC gnomAD
rs1321074947 CA408905971	334	S>G		No	ClinGen gnomAD
rs373705070 CA9855403	334	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA314431918 rs758942917	335	E>A		No	ClinGen Ensembl
rs1262212586 CA408906008	335	E>D		No	ClinGen TOPMed
CA314431927 rs986326477	337	H>Q		No	ClinGen TOPMed
CA408906043 rs1299349375	337	H>R		No	ClinGen gnomAD
rs1308668818 CA408906054	338	C>R		No	ClinGen TOPMed
CA408906084 rs1387598404	339	M>I		No	ClinGen TOPMed gnomAD
CA9855405 rs143923592	339	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408906110 rs1234326457 COSM3840987	340	M>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA408906122 rs1287969144	341	N>T		No	ClinGen gnomAD
TCGA novel	343	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408906148 rs1327456008	343	T>S		No	ClinGen gnomAD
rs1265632447 CA408906175	345	I>T		No	ClinGen Ensembl
CA408906193 rs1442916636	347	A>S		No	ClinGen TOPMed gnomAD
CA9855406 rs776361290	349	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs974770853 CA314431942	352	G>A		No	ClinGen Ensembl
CA408906262 rs1268911410	353	L>F		No	ClinGen gnomAD
rs773229110 CA9855409	354	F>I		No	ClinGen ExAC gnomAD
CA408906301 rs1156361004	357	V>A		No	ClinGen TOPMed
TCGA novel	358	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601182765 CA408906323	361	T>P		No	ClinGen Ensembl
rs1601182767 CA408906330	362	W>G		No	ClinGen Ensembl
CA314431961 rs545702481	363	A>D		No	ClinGen 1000Genomes
rs1417050812 CA408906341	363	A>T		No	ClinGen gnomAD
rs1601182777 CA408906352	365	E>K		No	ClinGen Ensembl
TCGA novel	366	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767748758 CA9855414	367	K>R		No	ClinGen ExAC gnomAD
CA408906382 rs1291854374	369	V>I		No	ClinGen TOPMed gnomAD
rs753053346 CA9855415	370	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9855417 rs777961679	373	N>S		No	ClinGen ExAC gnomAD
rs777961679 CA408906411	373	N>T		No	ClinGen ExAC gnomAD
CA408906410 rs1307602980	373	N>Y		No	ClinGen gnomAD
CA314431987 rs367818897	376	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367818897 CA9855418	376	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	379	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	381	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243333593 CA408906483	385	F>L		No	ClinGen gnomAD
rs1267757229 CA408906495	387	V>M	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746521205 CA9855421	388	A>T		No	ClinGen ExAC gnomAD
CA408906510 rs1463733726	389	K>R		No	ClinGen gnomAD
rs867951736 CA314431999	393	S>F		No	ClinGen Ensembl
TCGA novel	397	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	397	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772822378 CA9855426 COSM1533339	400	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9855427 rs763040176	402	V>A		No	ClinGen ExAC gnomAD
rs1168086793 CA408906602	404	V>M		No	ClinGen gnomAD
CA9855429 rs774612352	405	L>R		No	ClinGen ExAC gnomAD
CA314432026 rs201986558	408	S>P		No	ClinGen Ensembl
rs767447129 CA9855431	409	L>F		No	ClinGen ExAC gnomAD
CA9855433 rs760744084	410	F>L		No	ClinGen ExAC gnomAD
rs752996684 CA9855432	410	F>S		No	ClinGen ExAC gnomAD
rs1322884888 CA408906657	412	E>V		No	ClinGen gnomAD
rs982792875 CA314432044	413	G>D		No	ClinGen TOPMed gnomAD
rs6100927 CA314432039	413	G>S		No	ClinGen Ensembl
rs1271934415 CA408906669	414	S>N		No	ClinGen gnomAD
rs764534852 CA9855434	414	S>R		No	ClinGen ExAC gnomAD
CA408906673 rs1255064268	415	R>H		No	ClinGen TOPMed gnomAD
CA408906674 rs1255064268	415	R>L		No	ClinGen TOPMed gnomAD
rs754192010 CA9855435	415	R>S		No	ClinGen ExAC gnomAD
rs142909531 CA408906676	416	A>P		No	ClinGen ESP ExAC gnomAD
rs142909531 COSM1026699 CA9855436	416	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA9855438 rs541773581	417	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9855439 rs750876338	418	F>S		No	ClinGen ExAC TOPMed gnomAD
rs905623626 CA314432061	419	P>S		No	ClinGen Ensembl
rs1296883817 CA408906721	422	Y>H		No	ClinGen TOPMed
rs34517228 RCV000961697 CA9855443 VAR_048121	423	S>G		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1358826567 CA408906745	424	G>S		No	ClinGen gnomAD
CA9855445 rs749092130	425	D>E		No	ClinGen ExAC TOPMed gnomAD
CA408906754 rs1464822213	425	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408906766 rs771050013 CA314432074	426	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9855446 rs771050013	426	G>W		No	ClinGen ExAC TOPMed gnomAD
rs778245804 CA9855447	427	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778245804 CA314432088	427	R>L		No	ClinGen ExAC TOPMed gnomAD
CA408906790 rs1601182907	429	K>E		No	ClinGen Ensembl
rs1260681460 CA408906794	429	K>R		No	ClinGen TOPMed
rs371563763 CA9855448	430	S>Y		No	ClinGen ESP ExAC gnomAD
rs1249221165 CA408906821	431	W>C		No	ClinGen gnomAD
rs1366671591 CA408906818	431	W>L		No	ClinGen gnomAD
CA408906857 rs1568628605	436	R>S		No	ClinGen Ensembl
rs1256431418 COSM1411724 CA408906880	438	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	440	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764187908 CA9855452	440	V>I		No	ClinGen ExAC gnomAD
CA9855453 rs777043497	441	V>F		No	ClinGen ExAC TOPMed gnomAD
CA408906932 rs777043497	441	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs892354307 COSM3693486 CA314432113	443	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1424686994 CA408906988	444	L>Q		No	ClinGen gnomAD
rs1332984368 CA408907076	450	V>A		No	ClinGen TOPMed
TCGA novel	454	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9855458 rs767106874	456	L>F		No	ClinGen ExAC gnomAD
CA408907182 rs1220661138	459	L>F		No	ClinGen gnomAD
CA408907191 rs1601182967	460	T>P		No	ClinGen Ensembl
TCGA novel	461	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	469	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487549655 CA408907409	475	L>F		No	ClinGen gnomAD
rs1193079299 CA408907502	479	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408907511 rs1430273913	479	R>L		No	ClinGen gnomAD
rs1460374393 CA408907539	481	L>P		No	ClinGen gnomAD
CA408907572 rs1601183008	482	W>G		No	ClinGen Ensembl
rs547270146 CA9855463	483	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1414811807 CA408907632	483	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408907656 COSM577457 rs1473110302	484	K>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9855464 rs757122447	489	Q>E		No	ClinGen ExAC gnomAD
CA408907788 rs1347540748	489	Q>R		No	ClinGen gnomAD
CA314432178 rs975154184	490	V>I		No	ClinGen Ensembl
rs778809530 CA9855465 COSM723729	495	A>T	lung Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs745821668 CA9855466	495	A>V		No	ClinGen ExAC gnomAD
CA408907982 rs1407730184	497	F>V		No	ClinGen gnomAD
CA408908060 rs1290034766	501	G>S		No	ClinGen gnomAD
rs1329760124 CA408908133	502	I>M		No	ClinGen gnomAD
CA9855467 rs372989549	505	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	505	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319953535 CA408908247	509	V>M		No	ClinGen TOPMed gnomAD
CA408908264 rs1457450615	510	H>Y		No	ClinGen TOPMed
rs1269835399 CA408908287	512	L>F		No	ClinGen gnomAD
TCGA novel	513	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747052666 CA9855469	514	G>S		No	ClinGen ExAC gnomAD
rs1254504463 CA408908348	515	L>F		No	ClinGen gnomAD
TCGA novel	515	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314432214 rs776847257	516	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9855470 rs546892153	516	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408908413 rs1406556808	519	Y>H		No	ClinGen TOPMed gnomAD
CA9855473 rs140172143	521	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773546573 CA9855474	522	N>I		No	ClinGen ExAC gnomAD
rs1350821917 CA408908495	522	N>K		No	ClinGen TOPMed gnomAD
CA314432231 rs940895631	523	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408908557 rs1461347701	524	E>G		No	ClinGen TOPMed gnomAD
rs1601183094 CA408908523	524	E>K		No	ClinGen Ensembl

No associated diseases with Q9H598

1 regional properties for Q9H598

Type	Name	Position	InterPro Accession
domain	Amino acid transporter, transmembrane domain	115 - 510	IPR013057

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle membrane ; Multi-pass membrane protein Presynapse	Presents in glycine-, GABA- or GABA- and glycine-containing boutons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

17 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
cell tip	The region at the end of the longest axis of a cylindrical or elongated cell.
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	The lipid bilayer surrounding a clathrin-sculpted gamma-aminobutyric acid transport vesicle.
cone cell pedicle	A specialized axon terminus which is produced by retinal cone cells. Pedicles are large, conical, flat end-feet (8-10 micrometers diameter) of the retinal cone axon that lie more or less side by side on the same plane at the outer edge of the outer plexiform layer (OPL).
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
dendrite terminus	A structure at the distal end of a dendrite adapted to carry out a specific function, e.g. dendriole.
GABA-ergic synapse	A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
inhibitory synapse	A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell.
integral component of synaptic vesicle membrane	The component of the synaptic vesicle 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuron projection terminus	The specialized, terminal region of a neuron projection such as an axon or a dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.
presynaptic active zone	A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

6 GO annotations of molecular function

Name	Definition
amino acid transmembrane transporter activity	Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group.
gamma-aminobutyric acid transmembrane transporter activity	Enables the transfer of gamma-aminobutyric acid from one side of a membrane to the other. Gamma-aminobutyric acid is 4-aminobutyrate (GABA).
gamma-aminobutyric acid:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: 4-aminobutanoate(out) + n H+(in) = 4-aminobutanoate(in) + n H+(out).
gamma-aminobutyric acid:proton symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: gamma-aminobutyric acid(out) + H+(out) = gamma-aminobutyric acid(in) + H+(in).
glycine transmembrane transporter activity	Enables the transfer of glycine from one side of a membrane to the other. Glycine is aminoethanoic acid.
glycine:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glycine(out) + n H(+)(in) = glycine(in) + n H(+)(out).

10 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
amino acid transmembrane transport	The process in which an amino acid is transported across a membrane.
beta-alanine transport	The directed movement of beta-alanine, 3-aminopropanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
gamma-aminobutyric acid import	The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a cell or organelle.
gamma-aminobutyric acid transport	The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
glycine transport	The directed movement of glycine, aminoethanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
neurotransmitter loading into synaptic vesicle	The active transport of neurotransmitters into a synaptic vesicle. This import is fuelled by an electrochemical gradient across the vesicle membrane, established by the action of proton pumps.
neurotransmitter secretion	The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O35633	Slc32a1	Vesicular inhibitory amino acid transporter	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATLLRSKLS	NVATSVSNKS	QAKMSGMFAR	MGFQAATDEE	AVGFAHCDDL	DFEHRQGLQM
70	80	90	100	110	120
DILKAEGEPC	GDEGAEAPVE	GDIHYQRGSG	APLPPSGSKD	QVGGGGEFGG	HDKPKITAWE
130	140	150	160	170	180
AGWNVTNAIQ	GMFVLGLPYA	ILHGGYLGLF	LIIFAAVVCC	YTGKILIACL	YEENEDGEVV
190	200	210	220	230	240
RVRDSYVAIA	NACCAPRFPT	LGGRVVNVAQ	IIELVMTCIL	YVVVSGNLMY	NSFPGLPVSQ
250	260	270	280	290	300
KSWSIIATAV	LLPCAFLKNL	KAVSKFSLLC	TLAHFVINIL	VIAYCLSRAR	DWAWEKVKFY
310	320	330	340	350	360
IDVKKFPISI	GIIVFSYTSQ	IFLPSLEGNM	QQPSEFHCMM	NWTHIAACVL	KGLFALVAYL
370	380	390	400	410	420
TWADETKEVI	TDNLPGSIRA	VVNIFLVAKA	LLSYPLPFFA	AVEVLEKSLF	QEGSRAFFPA
430	440	450	460	470	480
CYSGDGRLKS	WGLTLRCALV	VFTLLMAIYV	PHFALLMGLT	GSLTGAGLCF	LLPSLFHLRL
490	500	510	520
LWRKLLWHQV	FFDVAIFVIG	GICSVSGFVH	SLEGLIEAYR	TNAED