AiPD: Autoinhibited Protein Database

Q13367

Gene name	AP3B2
Protein name	AP-3 complex subunit beta-2
Names	Adaptor protein complex AP-3 subunit beta-2, Adaptor-related protein complex 3 subunit beta-2, Beta-3B-adaptin, Clathrin assembly protein complex 3 beta-2 large chain, Neuron-specific vesicle coat protein beta-NAP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8120
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

697-821 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

697-821 (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 Q13367

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13367-F1	Predicted				AlphaFoldDB

770 variants for Q13367

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1304104449 RCV001263304	22	Y>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs775024756 CA7700563 RCV000415580	67	R>*	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1596183293 RCV000989366	131	L>missing	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinVar dbSNP
RCV000984513 rs1481189891	224	L>*	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinVar dbSNP
RCV003141915 rs200983489 RCV000995407 CA7700376 RCV001270044	294	K>T	Autism Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001333281 CA393294859 rs1215589381	314	Q>*	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001336720 rs775126490 RCV002546792 CA7700166	546	A>P	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1057519272 RCV000415523	613	E>missing	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinVar dbSNP
RCV002534296 rs202115109 CA7699923 RCV000658722	789	W>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1057519271 RCV000415561	841	L>missing	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinVar dbSNP
rs529642370 RCV001336721 CA7699828 RCV002070213	859	R>Q	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001336722 CA7699820 RCV001871893 rs757342482	874	D>E	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001376173 rs1347618037 RCV001268750	974	P>missing	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinVar dbSNP
RCV001252888 rs758742947 CA7699707	998	K>R	Microcephaly [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs147455569 CA7699691 RCV001329941 RCV000968311	1029	S>Y	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs188892600 RCV001859309 CA7699645 RCV001333280	1079	A>D	Developmental and epileptic encephalopathy, 48 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1406568790 CA393307931	4	A>D		No	ClinGen TOPMed
rs550484063 CA273472557	4	A>P		No	ClinGen Ensembl
CA393307927 rs1406568790	4	A>V		No	ClinGen TOPMed
CA393307884 rs1388484040	7	Y>H		No	ClinGen TOPMed
CA393307830 rs1485425659	9	E>*		No	ClinGen TOPMed gnomAD
CA273472551 rs1009906758	11	K>N		No	ClinGen gnomAD
CA273472553 rs928214078	11	K>Q		No	ClinGen TOPMed
CA393307757 rs1377178980	12	G>S		No	ClinGen gnomAD
CA393307685 rs1268684609	15	A>S		No	ClinGen TOPMed gnomAD
CA7700620 rs772421688	17	P>A		No	ClinGen ExAC TOPMed gnomAD
CA393307642 rs772421688	17	P>S		No	ClinGen ExAC TOPMed gnomAD
CA393307646 rs772421688	17	P>T		No	ClinGen ExAC TOPMed gnomAD
CA393307630 rs1197791802	18	G>R		No	ClinGen gnomAD
CA393307625 rs1197791802	18	G>W		No	ClinGen gnomAD
CA393307611 rs1209292664	19	E>G		No	ClinGen TOPMed
CA393307594 rs1273805924	20	P>A		No	ClinGen gnomAD
CA393307571 rs1332684101	21	E>*		No	ClinGen gnomAD
CA273472536 rs1031101674	23	G>S		No	ClinGen Ensembl
rs778409869 CA7700618	24	H>P		No	ClinGen ExAC gnomAD
CA393307528 rs1186626632	24	H>Y		No	ClinGen TOPMed
CA393307520 rs1322770852	25	D>A		No	ClinGen gnomAD
CA393307511 rs1458027305	25	D>E		No	ClinGen gnomAD
rs1322770852 CA393307516	25	D>V		No	ClinGen gnomAD
rs867854533 CA273472532	27	A>E		No	ClinGen Ensembl
COSM3944286 CA393307495 rs1170835770	27	A>T	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs753249898 CA7700616	33	S>F		No	ClinGen ExAC TOPMed gnomAD
CA393307427 rs1458171322	34	S>A		No	ClinGen TOPMed
rs865869971 CA273472527	34	S>F		No	ClinGen TOPMed gnomAD
CA393307411 rs1190112443	36	Y>C		No	ClinGen gnomAD
CA393307407 rs1404590422	37	K>E		No	ClinGen TOPMed
rs1447155439 CA393307402	37	K>N		No	ClinGen TOPMed gnomAD
rs1025914031 CA273472525	37	K>T		No	ClinGen TOPMed
rs755676693 CA7700597	41	D>E		No	ClinGen ExAC gnomAD
CA393302354 rs1412127919	45	M>V		No	ClinGen gnomAD
CA393302230 rs1161088024	50	K>R		No	ClinGen gnomAD
rs1180744003 CA393302161	53	L>P		No	ClinGen gnomAD
CA393302137 rs1201643399	54	K>N		No	ClinGen TOPMed
CA7700595 rs374177816	57	A>G		No	ClinGen ESP ExAC
CA393302062 rs1481805476	58	M>T		No	ClinGen gnomAD
CA7700594 rs757139023	61	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1253825077 CA393301997	61	I>V		No	ClinGen gnomAD
CA393301976 rs1185183436	62	V>A		No	ClinGen TOPMed
CA393301960 rs1567270395	63	A>V		No	ClinGen Ensembl
rs764402552 CA7700565	64	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1213628889 CA393301885	65	I>T		No	ClinGen gnomAD
rs1186907391 CA393301857	67	R>L		No	ClinGen TOPMed gnomAD
CA393301859 rs1186907391	67	R>Q		No	ClinGen TOPMed gnomAD
CA7700562 rs769528924	68	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1240626906 CA393301781	73	D>E		No	ClinGen gnomAD
CA393301791 rs1567270242	73	D>H		No	ClinGen Ensembl
CA7700557 rs777745101	77	A>G		No	ClinGen ExAC gnomAD
CA393301737 rs1567270229	77	A>T		No	ClinGen Ensembl
CA7700558 rs777745101	77	A>V		No	ClinGen ExAC gnomAD
rs1237301872 CA393301639	84	C>S		No	ClinGen Ensembl
rs1363557246 CA393301602	86	N>K		No	ClinGen gnomAD
CA393301598 rs1289125072	87	I>V		No	ClinGen TOPMed gnomAD
rs1463303452 CA393301517	93	V>I		No	ClinGen gnomAD
CA393301497 RCV000498539 rs1555468116	94	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs1422351355 CA393301455	98	V>L		No	ClinGen gnomAD
CA7700535 rs373196064	99	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7700534 rs746124605	99	R>H		No	ClinGen ExAC gnomAD
CA7700532 rs757303511	101	A>T		No	ClinGen ExAC gnomAD
rs1254022828 CA393301370	104	Q>R		No	ClinGen gnomAD
CA393300603 rs1233321722	117	R>C		No	ClinGen TOPMed gnomAD
CA7700528 rs753241290	117	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1015476718 CA273456736	123	N>D		No	ClinGen Ensembl
rs751006728 CA7700482	127	R>S		No	ClinGen ExAC gnomAD
rs1004052529 CA273456719	132	R>P		No	ClinGen Ensembl
rs1222157458 CA393297874	136	S>G		No	ClinGen gnomAD
CA7700478 rs765120560	147	M>I		No	ClinGen ExAC gnomAD
rs1376109310 CA393297525	147	M>R		No	ClinGen gnomAD
rs759230363 CA393297496	148	L>I		No	ClinGen ExAC TOPMed gnomAD
rs952703571 CA273456706	152	E>D		No	ClinGen Ensembl
CA7700476 rs773513637	154	A>T		No	ClinGen ExAC gnomAD
CA393297052 rs1271617076	163	K>N		No	ClinGen TOPMed
rs772352195 CA7700475	163	K>Q		No	ClinGen ExAC gnomAD
rs774628603 CA7700473	169	I>T		No	ClinGen ExAC gnomAD
rs768849982 CA7700472	174	S>G		No	ClinGen ExAC gnomAD
CA393296506 rs1393212872	177	S>A		No	ClinGen TOPMed gnomAD
CA393296503 rs1312228156	177	S>F		No	ClinGen TOPMed
CA393296507 rs1393212872	177	S>P		No	ClinGen TOPMed gnomAD
CA7700459 rs765046007	178	D>V		No	ClinGen ExAC gnomAD
CA7700458 rs759379257	181	D>N		No	ClinGen ExAC gnomAD
CA7700457 rs753517676	182	Q>E		No	ClinGen ExAC gnomAD
CA7700456 rs766262314	182	Q>R		No	ClinGen ExAC gnomAD
rs762190371 CA7700455	184	I>T		No	ClinGen ExAC gnomAD
CA393296323 rs1242844571	186	V>I		No	ClinGen gnomAD
rs1235430462 CA393296195	195	T>A		No	ClinGen gnomAD
rs1355292584 CA393296136	202	V>M		No	ClinGen TOPMed gnomAD
CA393296119 rs1459919886	204	M>I		No	ClinGen gnomAD
rs1189258557 CA393296048	214	I>T		No	ClinGen gnomAD
rs760520057 CA7700434	215	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1249065547 CA393296036	216	L>P		No	ClinGen gnomAD
rs1280464630 COSM701605 CA393296004	220	N>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA393296005 rs1596182750	220	N>T		No	ClinGen Ensembl
CA273456360 rs11539154	222	R>W		No	ClinGen Ensembl
rs1257764442 CA393295972	225	C>S		No	ClinGen gnomAD
CA393295944 rs764375032	229	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1262825827 CA393295942	230	D>H		No	ClinGen TOPMed
CA7700430 COSM556220 rs775376816	234	W>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769906805 CA7700429	235	G>S		No	ClinGen ExAC gnomAD
rs777092639 CA7700427	240	I>S		No	ClinGen ExAC gnomAD
rs373564147 CA273456346	242	M>I		No	ClinGen ESP TOPMed gnomAD
CA393295826 rs1439062220	246	Y>*		No	ClinGen gnomAD
rs1396962875 CA393295825	247	A>S		No	ClinGen gnomAD
CA393295816 rs1165668881	248	R>H		No	ClinGen gnomAD
CA393295806 rs1473454723	249	T>R		No	ClinGen TOPMed
rs747821900 CA7700422	253	S>G		No	ClinGen ExAC
rs778352468 CA7700421	255	T>I		No	ClinGen ExAC gnomAD
rs775612414 CA273456146	259	S>F		No	ClinGen Ensembl
rs1041051349 CA273456151	259	S>P		No	ClinGen TOPMed gnomAD
CA393295588 rs1329938367	260	L>P		No	ClinGen gnomAD
rs752912575 CA7700393	262	E>G		No	ClinGen ExAC gnomAD
rs1293705375 CA393295536	264	N>H		No	ClinGen TOPMed
rs34826697 CA273456144	264	N>K		No	ClinGen TOPMed
CA393295514 rs1228322034	265	A>G		No	ClinGen TOPMed
CA7700392 rs765451051	268	A>G		No	ClinGen ExAC gnomAD
CA393295459 rs1172796080	269	F>S		No	ClinGen gnomAD
rs1376503643 CA393295464	269	F>V		No	ClinGen gnomAD
CA7700391 rs755080944	270	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1194632435 CA393295423	272	S>P		No	ClinGen gnomAD
CA7700389 rs766432930	274	E>A		No	ClinGen ExAC gnomAD
rs1462505245 CA393295383	274	E>D		No	ClinGen gnomAD
CA273456125 rs371423518	274	E>K		No	ClinGen ESP TOPMed
CA7700388 rs761236203	275	D>E		No	ClinGen ExAC gnomAD
rs1256694921 CA393295377	275	D>N		No	ClinGen TOPMed gnomAD
CA393295362 rs1486529587	276	E>K		No	ClinGen gnomAD
rs1278988306 CA393295332	277	A>V		No	ClinGen gnomAD
rs1596182342 CA393295321	278	K>R		No	ClinGen Ensembl
CA7700386 rs767818844	280	A>G		No	ClinGen ExAC gnomAD
CA393295299 rs1337642102	280	A>T		No	ClinGen gnomAD
rs767818844 CA7700387	280	A>V		No	ClinGen ExAC gnomAD
CA7700384 rs773903189	281	G>E		No	ClinGen ExAC gnomAD
rs1488694512 CA393295259	283	E>Q		No	ClinGen TOPMed
CA393295225 rs1596182311	285	T>P		No	ClinGen Ensembl
CA393295211 rs775202668	286	A>P		No	ClinGen ExAC gnomAD
CA7700381 rs775202668	286	A>T		No	ClinGen ExAC gnomAD
rs893998178 CA273456080	286	A>V		No	ClinGen Ensembl
rs1408592416 CA393295182	288	A>G		No	ClinGen gnomAD
CA7700380 rs769426601	288	A>T		No	ClinGen ExAC gnomAD
CA7700379 rs745844293	289	A>T		No	ClinGen ExAC TOPMed gnomAD
rs867456870 CA273456069	289	A>V		No	ClinGen Ensembl
rs867348501 CA273456060	290	A>S		No	ClinGen Ensembl
rs757027447 CA7700377	291	P>L		No	ClinGen ExAC gnomAD
rs1567265821 CA393295146	291	P>S		No	ClinGen Ensembl
rs1188681983 CA393295116	294	K>E		No	ClinGen TOPMed
rs755250376 CA7700374	296	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA393295096 rs1163520533	296	Y>N		No	ClinGen TOPMed
rs1271278359 CA393295062	298	M>I		No	ClinGen TOPMed gnomAD
rs1334248190 CA393295066	298	M>T		No	ClinGen gnomAD
CA7700373 rs544493596	298	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs780144987 CA7700372	300	P>S		No	ClinGen ExAC
CA393295018 rs1596182184	302	H>P		No	ClinGen Ensembl
CA393295002 rs1279518159	303	R>Q		No	ClinGen gnomAD
rs768025500 CA7700369	305	L>P		No	ClinGen ExAC gnomAD
CA393294952 rs1393295194	307	R>H		No	ClinGen gnomAD
rs1406634414 CA393294929	309	T>A		No	ClinGen gnomAD
CA393294905 rs1157974151	311	P>T		No	ClinGen TOPMed gnomAD
rs1596182118 RCV001008290	316	R>missing		No	ClinVar dbSNP
CA393319001 rs1284167638	316	R>C		No	ClinGen gnomAD
rs1222632725 CA393318998	316	R>H		No	ClinGen gnomAD
CA393318999 rs1222632725	316	R>L		No	ClinGen gnomAD
CA393318987 rs1310381151	317	S>N		No	ClinGen gnomAD
rs928342774 CA273489676	317	S>R		No	ClinGen TOPMed gnomAD
rs1234049432 CA393318975	318	A>T		No	ClinGen TOPMed gnomAD
rs1323531667 CA393318954	319	A>T		No	ClinGen gnomAD
rs1258545336 CA393318938	320	V>L		No	ClinGen TOPMed
CA7700359 rs746907595	322	M>I		No	ClinGen ExAC gnomAD
rs944033052 CA273489672	322	M>R		No	ClinGen gnomAD
rs944033052 CA393318905	322	M>T		No	ClinGen gnomAD
rs908604679 CA273489668	323	A>E		No	ClinGen gnomAD
rs1249282577 CA393318845	324	V>A		No	ClinGen TOPMed
rs780197514 CA7700354	327	L>F		No	ClinGen ExAC gnomAD
rs1280427293 CA393318780	328	Y>C		No	ClinGen gnomAD
CA7700351 rs781560275	332	A>E		No	ClinGen ExAC gnomAD
CA393318687 rs1287408120	334	K>E		No	ClinGen gnomAD
CA393318689 rs1287408120	334	K>Q		No	ClinGen gnomAD
rs763466527 CA273489645	336	E>*		No	ClinGen Ensembl
CA393318630 rs1403918747	337	V>A		No	ClinGen TOPMed
rs1220661178 CA393318618	338	G>D		No	ClinGen gnomAD
CA393318600 rs1452098462	339	V>A		No	ClinGen TOPMed
rs1367868541 CA393318610	339	V>F		No	ClinGen gnomAD
rs1367868541 CA393318607	339	V>I		No	ClinGen gnomAD
CA393318606 rs1367868541	339	V>L		No	ClinGen gnomAD
CA393318594 rs1335975296	340	I>V		No	ClinGen TOPMed
CA393318554 rs1379854125	342	K>M		No	ClinGen TOPMed
CA393318519 rs1316134191	345	V>M		No	ClinGen TOPMed
rs1567265573 CA393318505	346	R>G		No	ClinGen Ensembl
CA393318500 rs1328433523	346	R>L		No	ClinGen gnomAD
rs1462455539 CA393318468	349	R>H		No	ClinGen TOPMed gnomAD
CA393318432 rs1433929710	352	S>G		No	ClinGen TOPMed gnomAD
rs1419102314 CA393318428	352	S>N		No	ClinGen gnomAD
rs1433929710 CA393318433	352	S>R		No	ClinGen TOPMed gnomAD
rs372504799 CA7700330	355	Q>H		No	ClinGen ESP ExAC gnomAD
rs758867606 CA7700328	357	V>A		No	ClinGen ExAC gnomAD
CA393318265 rs1401317264	357	V>I		No	ClinGen gnomAD
rs368897675 CA273489517	358	V>E		No	ClinGen ESP TOPMed
rs764996095 CA7700326	360	Q>*		No	ClinGen ExAC gnomAD
CA393318143 rs1219459955	362	V>A		No	ClinGen TOPMed gnomAD
CA273489512 rs372222209	362	V>M		No	ClinGen ESP TOPMed gnomAD
rs1319472679 CA393318134	363	A>V		No	ClinGen TOPMed
rs1285149001 CA393318065	369	R>C		No	ClinGen gnomAD
rs1354209873 CA393317995	371	G>R		No	ClinGen gnomAD
rs1293461899 CA393317982	371	G>V		No	ClinGen TOPMed
CA393317957 rs1596181124	373	F>S		No	ClinGen Ensembl
CA7700309 rs748653652	374	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748653652 CA393317951	374	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA393317940 rs1231422218	375	P>T		No	ClinGen gnomAD
rs1381755681 CA393317907	379	S>I		No	ClinGen gnomAD
CA7700303 rs367676344	382	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA273489242 rs781524703	385	T>S		No	ClinGen Ensembl
rs761802414 CA7700301	386	D>E		No	ClinGen ExAC gnomAD
rs1464177208 CA393317864	386	D>N		No	ClinGen gnomAD
CA273489229 rs200516574	389	Q>R		No	ClinGen Ensembl
rs12438174 CA273489218	390	I>N		No	ClinGen Ensembl
CA273489221 rs28581493	390	I>V		No	ClinGen Ensembl
CA393317825 rs1198899171	392	I>F		No	ClinGen gnomAD
rs373292155 CA7700284	397	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7700282 rs369371843	403	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752377063 CA7700280	405	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1347604925 CA393317358	406	N>D		No	ClinGen TOPMed
rs1282981278 CA393317308	410	V>I		No	ClinGen gnomAD
CA393317290 rs1341504304	412	R>Q		No	ClinGen gnomAD
rs759502011 CA7700278	412	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773545059 CA7700277	414	F>L		No	ClinGen ExAC gnomAD
CA393317254 rs1445493911	414	F>L		No	ClinGen gnomAD
CA7700260 rs369703322	419	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs750705900 CA7700259 COSM1374979	419	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750705900 CA393317124	419	R>L		No	ClinGen ExAC gnomAD
rs767781054 CA7700258	421	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1211124366 CA393317018	425	F>S		No	ClinGen TOPMed
CA393317005 rs1596179348	426	V>G		No	ClinGen Ensembl
CA7700255 rs768775339	427	A>P		No	ClinGen ExAC TOPMed gnomAD
CA393316981 rs1596179326	428	A>G		No	ClinGen Ensembl
CA7700254 rs763407028	428	A>T		No	ClinGen ExAC gnomAD
rs1596179304 CA393316947	430	I>N		No	ClinGen Ensembl
rs1310995941 CA393316953	430	I>V		No	ClinGen TOPMed gnomAD
CA393316925 rs1366489014	431	Q>H		No	ClinGen gnomAD
rs1567263922 CA393316896	433	I>T		No	ClinGen Ensembl
COSM1563327 CA273488226 rs919136871	435	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs770169486 CA7700252	435	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM965734 rs1438032095 CA393316814	438	T>A	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs972312270 CA273488219	438	T>S		No	ClinGen Ensembl
rs1297553338 CA393316771	441	G>S		No	ClinGen TOPMed gnomAD
CA393316759 rs1171398156	441	G>V		No	ClinGen TOPMed
rs1417616102 CA393316748	442	R>*		No	ClinGen gnomAD
CA393316741 rs1362293215	442	R>Q		No	ClinGen gnomAD
rs1394851911 CA393316729	443	V>I		No	ClinGen TOPMed
CA7700250 rs376790454	444	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770514725 CA7700249	446	T>P		No	ClinGen ExAC gnomAD
CA7700246 rs757896162	449	N>S		No	ClinGen ExAC gnomAD
rs1287121425 CA393316524	452	V>A		No	ClinGen gnomAD
CA393316535 rs1489560363	452	V>L		No	ClinGen gnomAD
rs1311214490 CA393316504	453	Q>R		No	ClinGen gnomAD
CA273488200 rs764305032	455	L>P		No	ClinGen gnomAD
CA273488196 rs890550023	456	S>Y		No	ClinGen TOPMed
CA393316442 rs1367761809	457	N>S		No	ClinGen gnomAD
CA393316424 rs1397996908	458	R>C		No	ClinGen gnomAD
CA7700241 COSM1374976 rs766260323	458	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA273488191 rs763247022	459	D>G		No	ClinGen TOPMed gnomAD
rs1192998381 CA393316240	462	V>L		No	ClinGen gnomAD
rs1327788294 CA393316219	465	E>Q		No	ClinGen TOPMed
CA393316149 rs749228836	469	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7700224 rs749228836	469	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1237221553 CA393316049	473	L>F		No	ClinGen gnomAD
CA273488054 rs375473760	476	M>I		No	ClinGen ESP
CA393315987 rs1196173559	476	M>K		No	ClinGen gnomAD
rs780033124 CA7700222	480	Q>P		No	ClinGen ExAC gnomAD
rs1485841545 CA393315906	481	H>P		No	ClinGen TOPMed
CA7700221 rs543132175	481	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1474316601 CA393315780	489	A>E		No	ClinGen TOPMed
rs1264307794 CA393315787	489	A>T		No	ClinGen TOPMed
rs1187576396 CA393315777	490	K>E		No	ClinGen TOPMed
CA7700220 rs751755116	491	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1314553097 CA393315745	492	T>I		No	ClinGen TOPMed gnomAD
CA7700218 rs758417351	495	I>F		No	ClinGen ExAC gnomAD
rs752719403 CA7700217	496	Q>H		No	ClinGen ExAC gnomAD
rs1238718850 RCV001311058 CA393315563	501	R>*		No	ClinGen ClinVar TOPMed dbSNP
rs1238718850 CA393315564	501	R>G		No	ClinGen TOPMed
rs745784089 CA7700181	501	R>Q		No	ClinGen ExAC gnomAD
rs781108146 CA7700180	508	I>T		No	ClinGen ExAC
CA7700178 rs748419834	509	G>R		No	ClinGen ExAC gnomAD
CA393315405 rs1339125288	513	E>G		No	ClinGen gnomAD
CA7700177 rs779059565	516	P>A		No	ClinGen ExAC gnomAD
CA393315373 rs779059565	516	P>S		No	ClinGen ExAC gnomAD
CA273487622 rs896395570	517	R>K		No	ClinGen TOPMed
rs1567263274 CA393315329	520	P>A		No	ClinGen Ensembl
rs1385200868 CA393315309	521	D>A		No	ClinGen gnomAD
rs755052322 CA7700176	527	A>S		No	ClinGen ExAC gnomAD
rs1375033006 CA393315189	530	F>L		No	ClinGen TOPMed
rs779983418 CA7700174	531	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1567263224 CA393315164	532	A>S		No	ClinGen Ensembl
CA393315131 rs1055026303	534	E>D		No	ClinGen TOPMed gnomAD
CA7700172 rs750860663	536	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1447412912 CA393315087	538	K>Q		No	ClinGen gnomAD
rs767970176 CA7700171	540	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs374398150 CA393315054	540	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484367958 CA393315049	541	V>I		No	ClinGen TOPMed gnomAD
rs751285196 CA7700169	542	I>V		No	ClinGen ExAC gnomAD
rs370333440 CA7700168	543	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393315023 rs1169948268	543	N>Y		No	ClinGen gnomAD
rs1280707439 CA393315000	545	A>T		No	ClinGen gnomAD
CA273487585 rs775126490	546	A>T		No	ClinGen ExAC gnomAD
CA273487581 rs540285916	549	Y>C		No	ClinGen Ensembl
rs1332609214 CA393314541	549	Y>H		No	ClinGen TOPMed gnomAD
CA273487580 rs372449972	552	N>Y		No	ClinGen ESP TOPMed
rs1188865279 CA393314497	553	S>Y		No	ClinGen gnomAD
CA393314484 rs1233917350	554	K>I		No	ClinGen TOPMed
CA393314230 rs1310216742	557	K>E		No	ClinGen gnomAD
CA393314222 rs1296574554	558	L>P		No	ClinGen TOPMed
CA7700136 rs769945624	558	L>V		No	ClinGen ExAC gnomAD
rs1288393935 CA393314209	560	T>I		No	ClinGen gnomAD
CA7700135 rs745866012	562	Y>C		No	ClinGen ExAC gnomAD
CA393314199 rs1596170466	562	Y>H		No	ClinGen Ensembl
rs1031351965 CA273484126	563	V>M		No	ClinGen TOPMed
rs1596170454 CA393314185	564	L>P		No	ClinGen Ensembl
rs369082256 CA7700134	565	S>N		No	ClinGen ESP ExAC
rs868016252 CA273484115	567	A>T		No	ClinGen Ensembl
rs1373800104 CA393314167	567	A>V		No	ClinGen gnomAD
rs376898720 CA7700133	568	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442353474 CA393314092 COSM965722	576	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA393314086 rs752418242	576	R>H		No	ClinGen ExAC gnomAD
CA7700129 rs752418242	576	R>L		No	ClinGen ExAC gnomAD
CA7700127 COSM1374974 rs754527481	577	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760645573 CA393314063	578	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760645573 CA7700124	578	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140388339 CA393314065	578	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA393314056 rs1410475869 COSM1183138	579	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7700123 rs750333792 COSM197070	580	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA273484071 rs866031332	580	R>H		No	ClinGen TOPMed gnomAD
RCV000522628 CA393314047 rs1555465250	581	F>L		No	ClinGen ClinVar Ensembl dbSNP
rs932533026 CA273484059	583	R>Q		No	ClinGen Ensembl
rs761472269 CA7700121	583	R>W		No	ClinGen ExAC gnomAD
CA393314019 rs1262859688	584	Q>K		No	ClinGen gnomAD
CA393314002 rs1567258222	586	I>V		No	ClinGen Ensembl
rs186700451 CA7700119	587	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA393313965 rs1285969155	589	S>F		No	ClinGen gnomAD
CA7700116 rs771107384	590	E>D		No	ClinGen ExAC gnomAD
rs943737232 CA273484043	590	E>K		No	ClinGen TOPMed gnomAD
rs1421600062 CA393313937	591	Q>H		No	ClinGen TOPMed
CA393313941 rs1596170336 RCV000995405	591	Q>R		No	ClinGen ClinVar Ensembl dbSNP
rs747568488 CA7700115	595	L>F		No	ClinGen ExAC TOPMed gnomAD
CA273484037 rs151231029 RCV000519974	597	R>C		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA273484034 rs751411577 COSM3387097	597	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7700113 rs772597740	600	K>N		No	ClinGen ExAC gnomAD
CA393313815 rs1397960537	602	L>F		No	ClinGen gnomAD
CA393313805 rs1366921355	603	F>L		No	ClinGen gnomAD
rs1160185652 CA393313750	606	P>L		No	ClinGen gnomAD
CA393313735 rs1413974963	608	P>T		No	ClinGen gnomAD
rs1423070404 CA393313722	609	A>V		No	ClinGen gnomAD
rs1178696471 CA393313709	611	V>L		No	ClinGen TOPMed gnomAD
CA393313683 rs1454463915	613	E>D		No	ClinGen TOPMed
CA393313656 rs1481027030	616	F>Y		No	ClinGen gnomAD
rs748961570 CA7700092	619	R>Q		No	ClinGen ExAC gnomAD
CA7700091 rs779641851	620	D>E		No	ClinGen ExAC gnomAD
CA393313174 rs1196607606 COSM1374973	625	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1263253647 CA393313182	625	G>S		No	ClinGen TOPMed gnomAD
CA393313150 rs1315888966	628	S>T		No	ClinGen TOPMed
rs368662076 CA273483517	630	L>M		No	ClinGen ESP TOPMed
rs374158382 CA393313073	633	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374158382 CA7700090	633	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227572060 CA393312972	640	E>Q		No	ClinGen gnomAD
CA7700088 rs780669088	641	L>F		No	ClinGen ExAC gnomAD
rs751484351 CA7700086	642	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7700087 rs751484351	642	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1596169317 CA393312946	643	D>E		No	ClinGen Ensembl
CA393312953 rs1308233067	643	D>N		No	ClinGen gnomAD
rs763844101 CA7700085	645	P>L		No	ClinGen ExAC gnomAD
rs1039664162 CA273483495	647	E>A		No	ClinGen TOPMed gnomAD
CA393312899 rs1596169304	647	E>K		No	ClinGen Ensembl
rs1567257469 CA393312871	648	A>G		No	ClinGen Ensembl
CA393312856 rs1250267817	649	P>L		No	ClinGen TOPMed
CA393312838 rs1419854307	650	D>E		No	ClinGen TOPMed
rs766645528 CA7700082	651	P>A		No	ClinGen ExAC TOPMed gnomAD
rs766645528 CA393312833	651	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM965718 rs1164484702 CA393312817	652	S>Y	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs942737901 CA273483489	653	V>M		No	ClinGen Ensembl
CA7700081 rs760853121 COSM965716	654	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773489972 COSM3711764 CA7700080	654	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7700078 rs762271704	656	V>A		No	ClinGen ExAC
CA393312765 rs1175600444	656	V>M		No	ClinGen TOPMed
rs1236972788 CA393312747	657	E>D		No	ClinGen gnomAD
rs1169400625 CA393312452	659	P>L		No	ClinGen gnomAD
CA7700026 rs772847833	660	E>K		No	ClinGen ExAC gnomAD
rs1486507474 CA393312437	661	W>R		No	ClinGen gnomAD
rs1446684015 CA393312394	664	C>F		No	ClinGen gnomAD
CA393312397 RCV000761916 rs1181906403	664	C>G		No	ClinGen ClinVar dbSNP gnomAD
rs372623220 CA7700025	667	R>L		No	ClinGen ESP ExAC TOPMed
CA393312364 rs1033207460	667	R>W		No	ClinGen TOPMed gnomAD
rs748114419 CA7700024	668	E>D		No	ClinGen ExAC gnomAD
rs1051517416 CA273483208	668	E>Q		No	ClinGen TOPMed gnomAD
CA7700023 rs778950470	670	R>T		No	ClinGen ExAC gnomAD
rs1290056195 CA393312287	673	K>T		No	ClinGen gnomAD
CA7700021 rs533216955	675	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1361182911 CA393312255	676	P>S		No	ClinGen gnomAD
CA7700019 rs765121700	678	Y>H		No	ClinGen ExAC gnomAD
CA7700018 rs564405920	679	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393312210 rs1253074122	680	D>N		No	ClinGen TOPMed gnomAD
rs777880981 CA393312179 CA7700016	682	E>D		No	ClinGen ExAC gnomAD
rs1426738688 CA393312170	683	G>A		No	ClinGen gnomAD
rs1426738688 CA393312172	683	G>E		No	ClinGen gnomAD
CA393312175 rs1161466605	683	G>R		No	ClinGen gnomAD
rs921448209 CA273483172	684	E>G		No	ClinGen TOPMed
rs1459643199 CA393312146	686	G>R		No	ClinGen TOPMed
rs1339950538 CA393312144	686	G>V		No	ClinGen TOPMed gnomAD
rs1468716786 CA393312130	688	T>M		No	ClinGen TOPMed gnomAD
CA393312126 rs1321189054	689	E>A		No	ClinGen TOPMed
rs1183087157 CA393312116 COSM701607	690	S>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA393312121 rs1596168363	690	S>P		No	ClinGen Ensembl
CA7700013 rs765669791	691	A>P		No	ClinGen ExAC TOPMed gnomAD
CA393312115 rs765669791	691	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1596168035 CA393312078	694	D>A		No	ClinGen Ensembl
rs1190998552 CA393312045	699	S>G		No	ClinGen gnomAD
CA273482992 rs183833442	699	S>R		No	ClinGen 1000Genomes
rs747279235 CA7699998	700	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs777932732 CA7699997	701	S>L		No	ClinGen ExAC TOPMed gnomAD
CA393312026 rs1475970192	702	D>H		No	ClinGen gnomAD
CA393312018 rs1469399444	703	S>G		No	ClinGen gnomAD
rs778955037 CA7699994	703	S>N		No	ClinGen ExAC gnomAD
CA393312014 rs755579731	703	S>R		No	ClinGen ExAC gnomAD
CA7699992 rs754270996	704	K>R		No	ClinGen ExAC gnomAD
CA393311984 rs1567256494	707	S>I		No	ClinGen Ensembl
CA7699990 rs756390636	708	E>K		No	ClinGen ExAC gnomAD
rs750101148 CA7699989	709	S>R		No	ClinGen ExAC gnomAD
CA393311966 rs1188621630	710	G>D		No	ClinGen gnomAD
rs377674537 CA273482955	710	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377674537 CA7699988 COSM1183134	710	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7699987 rs761544331	711	S>C		No	ClinGen ExAC gnomAD
CA273482947 rs1007036618	715	S>N		No	ClinGen Ensembl
rs1260706879 CA393311912	718	S>Y		No	ClinGen gnomAD
CA7699985 rs34200105	719	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7699984 rs535077323	720	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA393311889 rs1212632655	721	E>D		No	ClinGen gnomAD
CA393311869 rs1364323439	724	D>N		No	ClinGen gnomAD
rs1343365946 CA393311854	726	D>N		No	ClinGen TOPMed
CA393311833 rs1289939933	728	E>D		No	ClinGen TOPMed
CA7699983 rs566085030	728	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1354509826 CA393311804	733	S>G		No	ClinGen gnomAD
rs1412050271 CA393311785	735	S>T		No	ClinGen gnomAD
rs762331009 CA7699962	737	Q>E		No	ClinGen ExAC gnomAD
CA273480362 rs544059884	737	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs574943201 CA7699960	738	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs759459995 CA7699959	738	S>N		No	ClinGen ExAC gnomAD
rs574943201 CA393310960	738	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1489914619 CA393310924	739	E>K		No	ClinGen gnomAD
CA393310900 rs1294295444	740	E>K		No	ClinGen gnomAD
CA393310866 rs1316341475	741	D>E		No	ClinGen gnomAD
rs555152768 CA7699958	741	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA273480354 rs555152768	741	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770684567 CA7699957	743	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7699956 rs762074311	744	R>T		No	ClinGen ExAC gnomAD
CA7699954 rs201139539	746	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1478645704 CA393310778	747	K>E		No	ClinGen TOPMed
CA393310743 rs1403544644	748	K>N		No	ClinGen TOPMed gnomAD
rs1363317349 CA393310726	749	K>N		No	ClinGen gnomAD
rs1014349034 CA273480334	749	K>R		No	ClinGen TOPMed
rs780167909 CA7699952	750	V>A		No	ClinGen ExAC gnomAD
rs771862976 CA7699953	750	V>M		No	ClinGen ExAC TOPMed
CA393310702 rs1308911161	752	E>A		No	ClinGen TOPMed
CA7699950 rs746344194	754	K>N		No	ClinGen ExAC gnomAD
CA393310668 rs180683793	755	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7699949 COSM84306 rs180683793	755	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA393310664 rs1156353931	755	G>V		No	ClinGen gnomAD
rs375481337 CA7699948	757	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777224084 CA7699946	758	S>L		No	ClinGen ExAC gnomAD
rs757941110 CA7699945	762	E>D		No	ClinGen ExAC gnomAD
rs1270778897 CA393310586	763	G>D		No	ClinGen gnomAD
rs868273372 CA273480314 COSM965708	765	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA393310563 rs1567256006	765	D>V		No	ClinGen Ensembl
rs764803195 CA7699943	766	S>P		No	ClinGen ExAC gnomAD
CA393310540 rs1339849670	768	S>G		No	ClinGen TOPMed
rs759513010 CA7699942	768	S>N		No	ClinGen ExAC gnomAD
rs368320657 CA7699941	769	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393310514 rs1222062333	770	S>L		No	ClinGen gnomAD
rs1567255988 CA393310485	774	E>K		No	ClinGen Ensembl
CA393310468 rs1483840882	775	M>T		No	ClinGen TOPMed
rs760393873 CA7699939	775	M>V		No	ClinGen ExAC gnomAD
rs1383837112 CA393310454	776	T>I		No	ClinGen gnomAD
rs1383837112 CA393310457	776	T>K		No	ClinGen gnomAD
CA7699936 rs374430091	777	S>L		No	ClinGen ESP ExAC gnomAD
rs200655723 CA7699932	780	E>D		No	ClinGen ExAC gnomAD
CA7699933 rs746399181	780	E>K		No	ClinGen ExAC TOPMed gnomAD
CA393310410 rs1259977692	781	E>D		No	ClinGen gnomAD
CA7699931 rs771428357	781	E>K		No	ClinGen ExAC gnomAD
CA273480264 rs368097009	782	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA273480278 rs866959294	782	E>G		No	ClinGen Ensembl
CA7699930 rs747320940	782	E>K		No	ClinGen ExAC gnomAD
rs568259225 CA7699927	784	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7699926 rs185726700	785	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754439282 CA7699925	786	P>R		No	ClinGen ExAC TOPMed gnomAD
CA393310369 rs1227217372	786	P>T		No	ClinGen gnomAD
CA393310356 rs1567255891	787	A>G		No	ClinGen Ensembl
rs753776300 CA7699924	788	S>Y		No	ClinGen ExAC gnomAD
rs1335518798 CA393310346	789	W>*		No	ClinGen gnomAD
rs1391605609 CA393310321	791	R>K		No	ClinGen TOPMed
rs200012307 CA7699922	792	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393310268 rs1311655950	794	P>S		No	ClinGen TOPMed
CA393310258 rs1181642804	795	P>H		No	ClinGen gnomAD
rs1436598540 CA393310251	796	S>G		No	ClinGen gnomAD
CA393310222 rs1340540014	798	K>R		No	ClinGen TOPMed
CA7699909 rs747781935	799	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778557732 CA7699908	799	S>T		No	ClinGen ExAC gnomAD
rs998727894 CA273480171	800	A>V		No	ClinGen gnomAD
rs201703765 CA7699907	801	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1329016868 CA393310186	802	A>E		No	ClinGen TOPMed
rs1329016868 CA393310182	802	A>V		No	ClinGen TOPMed
CA393310169 rs1357775419	804	K>E		No	ClinGen gnomAD
CA7699905 rs779531557	804	K>R		No	ClinGen ExAC TOPMed gnomAD
CA393310167 rs779531557	804	K>T		No	ClinGen ExAC TOPMed gnomAD
CA7699903 rs750352788	807	S>P		No	ClinGen ExAC gnomAD
rs371403262 CA7699902 COSM1183136	809	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7699900 rs752867810	810	D>Y		No	ClinGen ExAC gnomAD
rs1200076401 CA393310076	811	L>I		No	ClinGen TOPMed
rs1042994550 CA273480137	813	D>N		No	ClinGen Ensembl
rs1460799267 CA393309920	815	T>A		No	ClinGen gnomAD
CA393309911 rs1235719854	815	T>I		No	ClinGen TOPMed gnomAD
CA393309923 rs1460799267	815	T>P		No	ClinGen gnomAD
rs376550947 CA393309903	816	P>L		No	ClinGen ESP ExAC gnomAD
rs376550947 CA7699872	816	P>R		No	ClinGen ESP ExAC gnomAD
rs372570606 CA7699873	816	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393309882 rs1212977014	817	P>L		No	ClinGen gnomAD
rs977500641 CA273479943	818	S>G		No	ClinGen gnomAD
CA273479924 rs968788316	818	S>N		No	ClinGen TOPMed gnomAD
rs977500641 CA393309879	818	S>R		No	ClinGen gnomAD
CA393309841 rs1596166605	819	V>A		No	ClinGen Ensembl
CA393309852 rs1381212146	819	V>I		No	ClinGen gnomAD
CA7699869 rs762615177	820	Q>L		No	ClinGen ExAC gnomAD
rs1354257531 CA393309794	822	V>M		No	ClinGen gnomAD
CA7699866 rs745327053	825	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA393309747 rs1187941447	825	P>S		No	ClinGen TOPMed
CA7699865 rs200148581	826	A>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1168657925 CA393309733	826	A>S		No	ClinGen gnomAD
rs200148581 CA7699864	826	A>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7699862 rs777762220	828	V>L		No	ClinGen ExAC TOPMed gnomAD
CA393309702 rs777762220	828	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1164886541 CA393309678	829	S>F		No	ClinGen TOPMed
CA7699861 rs758220462	830	T>A		No	ClinGen ExAC gnomAD
rs758220462 CA393309676	830	T>P		No	ClinGen ExAC gnomAD
rs1397246766 CA393309635	832	L>R		No	ClinGen TOPMed
CA7699858 rs756273764	833	A>D		No	ClinGen ExAC gnomAD
CA273479899 rs373688202	833	A>P		No	ClinGen ExAC gnomAD
CA7699859 rs373688202	833	A>T		No	ClinGen ExAC gnomAD
CA393309616 rs1275694870	834	A>T		No	ClinGen gnomAD
CA393309605 rs1222026861	834	A>V		No	ClinGen gnomAD
rs1596166548 CA393309591	835	D>A		No	ClinGen Ensembl
rs1596166543 CA393309548	837	E>G		No	ClinGen Ensembl
CA7699856 rs767461367	838	G>R		No	ClinGen ExAC gnomAD
CA393309493 rs1229348730	840	T>I		No	ClinGen gnomAD
rs1596166524 RCV001008505	842	T>missing		No	ClinVar dbSNP
rs752012505 CA7699854	842	T>I		No	ClinGen ExAC gnomAD
rs762428082 CA7699855	842	T>P		No	ClinGen ExAC
CA393309406 rs1306182985	844	S>P		No	ClinGen TOPMed gnomAD
rs764472241 CA7699853	844	S>Y		No	ClinGen ExAC gnomAD
rs11539153 CA393309386	845	T>A		No	ClinGen gnomAD
CA393309388 rs11539153	845	T>P		No	ClinGen gnomAD
rs11539153 CA273479868	845	T>S		No	ClinGen gnomAD
rs1308192487 CA393309358	847	V>L		No	ClinGen gnomAD
rs374804698 CA7699852	848	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393309328 rs768482027	849	S>*		No	ClinGen ExAC TOPMed gnomAD
CA7699850 rs768482027	849	S>L		No	ClinGen ExAC TOPMed gnomAD
CA393309192 rs1596166294	854	V>L		No	ClinGen Ensembl
CA7699833 rs753128051	855	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7699834 rs753128051	855	S>W		No	ClinGen ExAC TOPMed gnomAD
CA393309151 rs1368775188	856	G>A		No	ClinGen TOPMed
rs1310064604 CA393309162	856	G>R		No	ClinGen gnomAD
CA393309165 rs1310064604	856	G>S		No	ClinGen gnomAD
CA7699830 rs776102181	857	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7699831 rs759283380	857	V>I		No	ClinGen ExAC gnomAD
rs1360600185 CA393309109	858	G>E		No	ClinGen gnomAD
rs529642370 CA393309100	859	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201234574 CA7699829 COSM3720822	859	R>W	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773299807 CA7699827	864	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs561595786 CA393308988	865	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561595786 CA7699825	865	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772198872 CA7699826	865	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1339640009 CA393308977	866	V>A		No	ClinGen TOPMed
CA393308976 rs1339640009	866	V>G		No	ClinGen TOPMed
rs566979650 CA7699823	869	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393308907 rs1567255028	871	L>V		No	ClinGen Ensembl
rs751603825 CA7699821	873	V>A		No	ClinGen ExAC TOPMed gnomAD
CA393308868 rs751603825	873	V>G		No	ClinGen ExAC TOPMed gnomAD
CA393308853 rs1596166226	874	D>G		No	ClinGen Ensembl
rs747150151 CA7699819	875	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1455023516 CA393308839	875	Y>S		No	ClinGen TOPMed
rs1596166205 CA393308829	876	T>P		No	ClinGen Ensembl
rs758946710 CA7699817	879	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1429389690 CA393308749	880	Q>*		No	ClinGen TOPMed
rs755260949 CA7699814	881	P>S		No	ClinGen ExAC gnomAD
rs1398775432 CA393308706	882	F>S		No	ClinGen TOPMed
rs760395320 CA7699811	884	G>R		No	ClinGen ExAC TOPMed gnomAD
CA393308660 rs1394231147	885	D>H		No	ClinGen gnomAD
CA393308594 rs1303246858	887	H>Q		No	ClinGen gnomAD
rs767110876 CA7699809	888	M>I		No	ClinGen ExAC gnomAD
rs768501423 CA393308537	891	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768501423 CA7699806	891	V>M		No	ClinGen ExAC TOPMed gnomAD
CA273479709 rs367663532	892	H>Y		No	ClinGen ESP TOPMed gnomAD
CA393308497 rs1567254957	893	I>N		No	ClinGen Ensembl
rs371121399 CA7699805	894	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393308453 rs1227277094	895	F>L		No	ClinGen TOPMed
CA7699804 rs775341382	897	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1257261195 CA393308406	898	S>G		No	ClinGen gnomAD
rs747201211 CA7699802	902	P>T		No	ClinGen ExAC gnomAD
CA393308317 rs1208565590	903	I>T		No	ClinGen TOPMed
rs772092763 CA7699800	905	G>V		No	ClinGen ExAC gnomAD
rs1264098697 CA393308252	908	V>M		No	ClinGen gnomAD
rs1193223238 CA393308239	909	G>D		No	ClinGen gnomAD
rs1044876442 CA273479687	910	T>I		No	ClinGen Ensembl
CA393308230 rs1283112701	910	T>S		No	ClinGen gnomAD
rs773235845 CA273479685	911	P>A		No	ClinGen Ensembl
rs773235845 CA273479681	911	P>S		No	ClinGen Ensembl
CA7699797 rs140282177	912	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000960954 CA7699796 rs140282177	912	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA273479673 rs753001126	914	P>S		No	ClinGen Ensembl
CA393308122 rs1246602211	917	I>V		No	ClinGen TOPMed
rs1313134160 CA393308113	918	S>G		No	ClinGen gnomAD
CA7699795 rs780530606	920	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1194246161 CA393308056	922	F>L		No	ClinGen TOPMed
CA7699792 rs767163977	924	E>A		No	ClinGen ExAC gnomAD
CA7699793 rs750043916	924	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1267461332 CA393307904	926	E>D		No	ClinGen gnomAD
rs1452772027 CA393307907	926	E>G		No	ClinGen gnomAD
CA393307886 rs1207981657	927	S>F		No	ClinGen gnomAD
CA273479475 rs749084932	929	A>V		No	ClinGen Ensembl
CA393307845 rs1228834381	930	P>S		No	ClinGen gnomAD
rs780933224 CA7699774	931	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1438891892 CA393307779	933	S>P		No	ClinGen gnomAD
rs1331703224 CA393307743	935	T>I		No	ClinGen gnomAD
CA393307755 rs1304670320	935	T>P		No	ClinGen TOPMed
rs1320010117 CA393307727	937	V>I		No	ClinGen gnomAD
CA393307725 rs1320010117	937	V>L		No	ClinGen gnomAD
rs868189012 CA273479469	939	G>D		No	ClinGen Ensembl
CA393307688 rs1433490232	939	G>S		No	ClinGen gnomAD
CA393307651 rs1391533150	941	N>S		No	ClinGen gnomAD
CA393307605 rs1321630211	943	C>Y		No	ClinGen gnomAD
CA393307590 rs1423515564	944	D>E		No	ClinGen gnomAD
rs756920346 CA7699773	944	D>N		No	ClinGen ExAC gnomAD
CA393307570 rs1478821426	947	Q>*		No	ClinGen gnomAD
rs751096618 CA7699772	948	A>E		No	ClinGen ExAC gnomAD
rs751096618 CA393307549	948	A>V		No	ClinGen ExAC gnomAD
rs527944374 CA273479462	950	N>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1249891561 CA393307515	950	N>K		No	ClinGen gnomAD
CA7699771 rs763629268	950	N>T		No	ClinGen ExAC gnomAD
rs1209278437 CA393307496	952	Q>*		No	ClinGen gnomAD
rs984738837 CA273479460	954	C>R		No	ClinGen Ensembl
rs758551158 CA7699749	955	T>A		No	ClinGen ExAC gnomAD
rs758551158 CA393306899	955	T>P		No	ClinGen ExAC gnomAD
rs369739441 CA7699748	956	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766170760 CA7699747	956	Q>H		No	ClinGen ExAC gnomAD
rs1293760137 CA393306876	956	Q>L		No	ClinGen TOPMed
rs892298096 CA273479354	957	T>I		No	ClinGen TOPMed
CA393306866 rs1596165336	957	T>P		No	ClinGen Ensembl
CA7699746 rs572047686	958	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1217527881 CA393306822	961	Y>D		No	ClinGen gnomAD
CA7699744 rs764083003	962	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7699743 rs374009506	963	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs775696235 CA7699742	964	I>V		No	ClinGen ExAC gnomAD
CA7699741 rs770488138	965	Q>H		No	ClinGen ExAC gnomAD
CA7699739 rs376590992	968	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs746346093 CA7699740	968	V>F		No	ClinGen ExAC gnomAD
rs1416205629 CA393306756	969	G>E		No	ClinGen Ensembl
CA393306750 rs1158150562	970	E>Q		No	ClinGen Ensembl
rs558558434 CA393306742	971	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs371693920 CA7699737	972	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA393306723 rs1188047151	974	P>A		No	ClinGen TOPMed
rs367998097 CA7699736	974	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378172122 CA393306716	975	V>E		No	ClinGen TOPMed gnomAD
rs1300964350 CA619005161	976	F>*		No	ClinGen gnomAD
CA393306708 rs1158324822	976	F>C		No	ClinGen TOPMed
rs1409240222 CA393306707	976	F>L		No	ClinGen TOPMed
rs376398184 CA7699735	977	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA393306697 rs1461916898	978	S>R		No	ClinGen gnomAD
CA7699734 rs201667255	978	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393306686 rs1156739301	979	E>G		No	ClinGen gnomAD
rs1567254184 CA393306666	982	F>I		No	ClinGen Ensembl
CA7699733 rs778394933	983	K>N		No	ClinGen ExAC gnomAD
rs754953755 CA7699732	984	K>E		No	ClinGen ExAC gnomAD
CA393306159 rs1234462995	987	G>E		No	ClinGen gnomAD
CA393306627 rs1266602073	987	G>R		No	ClinGen gnomAD
CA7699713 rs768110413	991	G>D		No	ClinGen ExAC gnomAD
rs779980907 CA7699711	993	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750297806 CA7699709	994	E>D		No	ClinGen ExAC gnomAD
rs755989477 CA7699710	994	E>K		No	ClinGen ExAC gnomAD
rs780817370 CA7699708	995	I>T		No	ClinGen ExAC gnomAD
CA393306008 rs554207048	996	T>I		No	ClinGen TOPMed gnomAD
CA273478625 rs554207048	996	T>R		No	ClinGen TOPMed gnomAD
CA393305931 rs1245101731	1000	M>I		No	ClinGen gnomAD
CA393305943 rs1448870522	1000	M>T		No	ClinGen gnomAD
CA393305920 rs1388414919	1001	L>M		No	ClinGen gnomAD
rs1320838616 CA393305913	1001	L>P		No	ClinGen TOPMed gnomAD
CA7699706 rs752918367	1003	D>N		No	ClinGen ExAC gnomAD
CA393305880 rs1429663191	1004	T>I		No	ClinGen gnomAD
CA393305884 rs1429663191	1004	T>N		No	ClinGen gnomAD
rs200505090 CA393305865	1006	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200505090 CA7699704	1006	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs368331201 CA7699705	1006	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs926669195 CA273478607	1008	D>N		No	ClinGen Ensembl
CA7699703 rs754316016	1010	I>T		No	ClinGen ExAC TOPMed gnomAD
CA273478599 rs1037110376	1015	V>A		No	ClinGen TOPMed
CA7699700 rs376018454	1016	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA273478595 rs766992863	1019	A>G		No	ClinGen Ensembl
CA393305702 rs1311728393	1020	N>K		No	ClinGen gnomAD
CA7699699 rs772409010	1020	N>S		No	ClinGen ExAC gnomAD
rs761462834 CA7699698	1021	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7699697 rs773955767	1022	G>V		No	ClinGen ExAC
CA7699696 rs184339082	1023	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779401895 CA7699694	1023	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779401895 CA393305691	1023	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7699695 rs184339082	1023	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA273478572 rs987936295	1026	C>S		No	ClinGen Ensembl
CA273478565 rs957904025	1027	G>E		No	ClinGen gnomAD
CA7699693 CA393305664 rs769837594	1027	G>R		No	ClinGen ExAC gnomAD
rs1567252968 CA393305653	1028	T>A		No	ClinGen Ensembl
CA7699689 rs370224228	1030	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425860698 CA393305619	1031	E>K		No	ClinGen gnomAD
rs776670297 CA7699672	1034	F>S		No	ClinGen ExAC gnomAD
CA393305535 rs1239640882	1036	G>R		No	ClinGen TOPMed
CA393305502 rs1469799972	1039	L>V		No	ClinGen gnomAD
CA393305488 rs1273560265	1040	T>I		No	ClinGen gnomAD
CA393305496 rs1479778877	1040	T>P		No	ClinGen TOPMed
CA7699671 rs770870307	1041	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1327339477 CA393305472	1042	G>R		No	ClinGen TOPMed gnomAD
rs1441573159 CA393305452	1044	L>I		No	ClinGen TOPMed
rs959640052 CA273478492	1045	V>I		No	ClinGen TOPMed gnomAD
rs959640052 CA393305442	1045	V>L		No	ClinGen TOPMed gnomAD
CA273478490 rs376892730	1046	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA393305422 rs1176502982	1047	L>Q		No	ClinGen TOPMed
CA7699667 rs749453733	1048	T>S		No	ClinGen ExAC gnomAD
CA393305401 rs1330194841	1050	D>N		No	ClinGen TOPMed
CA393305380 rs1395924373	1051	A>V		No	ClinGen TOPMed gnomAD
CA7699665 rs756112219	1052	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7699666 rs35816065	1052	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768065050 CA273478480	1053	P>A		No	ClinGen ExAC TOPMed gnomAD
rs768065050 CA7699663	1053	P>T		No	ClinGen ExAC TOPMed gnomAD
CA393305327 rs1455524267	1057	A>G		No	ClinGen gnomAD
rs764429707 CA7699660	1057	A>P		No	ClinGen ExAC TOPMed gnomAD
rs762681289 CA7699659	1058	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7699658 rs774938803	1059	L>P		No	ClinGen ExAC TOPMed gnomAD
rs756807665 RCV000735198	1060	T>missing		No	ClinVar dbSNP
rs1555463929 CA7699656	1061	V>A		No	ClinGen Ensembl
rs776369384 CA273478474	1062	N>K		No	ClinGen Ensembl
rs1286118137 CA393305280	1062	N>S		No	ClinGen gnomAD
CA273478470 rs899360874	1064	E>K		No	ClinGen TOPMed gnomAD
rs776258409 CA7699653	1067	V>M		No	ClinGen ExAC
rs1477653158 CA393305194	1068	I>T		No	ClinGen TOPMed
rs1236821451 CA393305202	1068	I>V		No	ClinGen TOPMed gnomAD
CA393305138 rs1463821812	1071	M>T		No	ClinGen TOPMed
CA273478460 rs201769141	1073	V>I		No	ClinGen TOPMed
CA273478458 rs1046401560	1074	K>R		No	ClinGen Ensembl
rs780094503 CA7699647	1077	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7699646 rs756340733	1077	I>T		No	ClinGen ExAC gnomAD
rs780094503 CA273478454	1077	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7699644 rs201428733	1081	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7699643 rs201428733	1081	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs570447805 CA7699642	1082	Q>R		No	ClinGen ExAC gnomAD

1 associated diseases with Q13367

[MIM: 617276]: Developmental and epileptic encephalopathy 48 (DEE48)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:27889060}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:27889060}. Note=The disease may be caused by variants affecting the gene represented in this entry.

1 regional properties for Q13367

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	42 - 418	IPR017452

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus	Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
AP-3 adaptor complex	A heterotetrameric AP-type membrane coat adaptor complex that consists of beta3, delta, mu3 and sigma3 subunits and is found associated with endosomal membranes. AP-3 does not appear to associate with clathrin in all organisms. In at least humans, the AP-3 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (beta3A and beta3B, mu3A and mu3B, and sigma3A and sigma3B).
axon cytoplasm	Any cytoplasm that is part of a axon.
clathrin-coated vesicle membrane	The lipid bilayer surrounding a clathrin-coated vesicle.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
intracellular vesicle	Any vesicle that is part of the intracellular region.
presynapse	The part of a synapse that is part of the presynaptic cell.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

8 GO annotations of biological process

Name	Definition
anterograde axonal transport	The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons.
anterograde synaptic vesicle transport	The directed movement of synaptic vesicle along axonal microtubules from the cell body to the presynapse.
clathrin-coated vesicle cargo loading, AP-3-mediated	Formation of a macromolecular complex between proteins of the AP-3 adaptor complex and proteins and/or lipoproteins that are going to be transported by a clathrin-coated vesicle. In some cases, the AP-3 complex is a heterotetrameric AP-type membrane coat adaptor complex that, in some organisms, links clathrin to the membrane surface of a vesicle.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
intracellular transport	The directed movement of substances within a cell.
synaptic vesicle coating	The formation of clathrin coated pits in the presynaptic membrane endocytic zone, triggered by the presence of high concentrations of synaptic vesicle components. This process leads to, but does not include budding of the membrane to form new vesicles.
synaptic vesicle recycling	The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P46682	APL6	AP-3 complex subunit beta	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q10567	AP1B1	AP-1 complex subunit beta-1	Homo sapiens (Human)	PR
Q9JME5	Ap3b2	AP-3 complex subunit beta-2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSAAPAYSED	KGGSAGPGEP	EYGHDPASGG	IFSSDYKRHD	DLKEMLDTNK	DSLKLEAMKR
70	80	90	100	110	120
IVAMIARGKN	ASDLFPAVVK	NVACKNIEVK	KLVYVYLVRY	AEEQQDLALL	SISTFQRGLK
130	140	150	160	170	180
DPNQLIRASA	LRVLSSIRVP	IIVPIMMLAI	KEAASDMSPY	VRKTAAHAIP	KLYSLDSDQK
190	200	210	220	230	240
DQLIEVIEKL	LADKTTLVAG	SVVMAFEEVC	PERIDLIHKN	YRKLCNLLID	VEEWGQVVII
250	260	270	280	290	300
SMLTRYARTQ	FLSPTQNESL	LEENAEKAFY	GSEEDEAKGA	GSEETAAAAA	PSRKPYVMDP
310	320	330	340	350	360
DHRLLLRNTK	PLLQSRSAAV	VMAVAQLYFH	LAPKAEVGVI	AKALVRLLRS	HSEVQYVVLQ
370	380	390	400	410	420
NVATMSIKRR	GMFEPYLKSF	YIRSTDPTQI	KILKLEVLTN	LANETNIPTV	LREFQTYIRS
430	440	450	460	470	480
MDKDFVAATI	QAIGRCATNI	GRVRDTCLNG	LVQLLSNRDE	LVVAESVVVI	KKLLQMQPAQ
490	500	510	520	530	540
HGEIIKHLAK	LTDNIQVPMA	RASILWLIGE	YCEHVPRIAP	DVLRKMAKSF	TAEEDIVKLQ
550	560	570	580	590	600
VINLAAKLYL	TNSKQTKLLT	QYVLSLAKYD	QNYDIRDRAR	FTRQLIVPSE	QGGALSRHAK
610	620	630	640	650	660
KLFLAPKPAP	VLESSFKDRD	HFQLGSLSHL	LNAKATGYQE	LPDWPEEAPD	PSVRNVEVPE
670	680	690	700	710	720
WTKCSNREKR	KEKEKPFYSD	SEGESGPTES	ADSDPESESE	SDSKSSSESG	SGESSSESDN
730	740	750	760	770	780
EDQDEDEEKG	RGSESEQSEE	DGKRKTKKKV	PERKGEASSS	DEGSDSSSSS	SESEMTSESE
790	800	810	820	830	840
EEQLEPASWS	RKTPPSSKSA	PATKEISLLD	LEDFTPPSVQ	PVSPPAIVST	SLAADLEGLT
850	860	870	880	890	900
LTDSTLVPSL	LSPVSGVGRQ	ELLHRVAGEG	LAVDYTFSRQ	PFSGDPHMVS	VHIHFSNSSD
910	920	930	940	950	960
TPIKGLHVGT	PKLPAGISIQ	EFPEIESLAP	GESATAVMGI	NFCDSTQAAN	FQLCTQTRQF
970	980	990	1000	1010	1020
YVSIQPPVGE	LMAPVFMSEN	EFKKEQGKLM	GMNEITEKLM	LPDTCRSDHI	VVQKVTATAN
1030	1040	1050	1060	1070	1080
LGRVPCGTSD	EYRFAGRTLT	GGSLVLLTLD	ARPAGAAQLT	VNSEKMVIGT	MLVKDVIQAL

TQ