AiPD: Autoinhibited Protein Database

Q9NZ52

Gene name	GGA3
Protein name	ADP-ribosylation factor-binding protein GGA3
Names	Golgi-localized, gamma ear-containing, ARF-binding protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23163
EC number
Protein Class	GOLGI-LOCALIZED, GAMMA-ADAPTIN EAR CONTAINING, ARF BINDING PROTEIN (PTHR45905)

Descriptions

The cytosolic adaptors GGA1-3 mediate sorting of transmembrane proteins. GGA1 contains an autoinhibitory region that is activated by the phosphorylation of a serine positioned three residues upstream of the DXXLL motif. Autoinhibition is achieved by the interaction between DXXLL site and the VHS domain in CGGA1, and the phosphoserine upstream of the DXXLL motif facilitates this interaction.

Autoinhibitory domains (AIDs)

Target domain	5-146 (VHS domain)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

388-395 (Autoinhibitory site in hinge region)

Target domain

5-146 (VHS domain)

Relief mechanism

PTM (Phosphorylation of S355)

Assay

Mutagenesis experiment

Accessory elements

No accessory elements

References

Cramer JF et al. (2010) "GGA autoinhibition revisited", Traffic (Copenhagen, Denmark), 11, 259-73

Autoinhibited structure

Activated structure

7 structures for Q9NZ52

Entry ID	Method	Resolution	Chain	Position	Source
1JPL	X-ray	240 A	A/B/C/D	1-166	PDB
1JUQ	X-ray	220 A	A/B/C/D	1-166	PDB
1LF8	X-ray	230 A	A/B/C/D	1-166	PDB
1P4U	X-ray	220 A	A	571-723	PDB
1WR6	X-ray	260 A	A/B/C/D	209-319	PDB
1YD8	X-ray	280 A	G/H	208-301	PDB
AF-Q9NZ52-F1	Predicted				AlphaFoldDB

657 variants for Q9NZ52

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs868200707 CA294031940	2	A>V		No	ClinGen Ensembl
rs768296895 CA8760125	3	E>D		No	ClinGen ExAC TOPMed gnomAD
rs746577309 CA8760124	4	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780422634 CA8760123	4	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1426362232 CA401005814	5	E>V		No	ClinGen gnomAD
CA401005808 rs750731901	6	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8760121 rs750731901	6	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1418171377 CA401005809	6	G>W		No	ClinGen gnomAD
rs757430080 CA8760119	7	E>D		No	ClinGen ExAC gnomAD
CA8760116 rs374161024	8	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8760117 rs374161024	8	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8760118 rs374161024	8	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752837843 CA8760115	10	E>V		No	ClinGen ExAC gnomAD
CA401005782 rs1277666384	11	S>P		No	ClinGen gnomAD
rs1291414520 CA401005773	12	W>*		No	ClinGen gnomAD
rs1357408089 CA401005775	12	W>R		No	ClinGen TOPMed gnomAD
rs762974174 CA8760113	14	N>D		No	ClinGen ExAC TOPMed gnomAD
rs762974174 CA401005761	14	N>H		No	ClinGen ExAC TOPMed gnomAD
rs746300739 CA8760069	17	T>S		No	ClinGen ExAC TOPMed gnomAD
CA401004708 rs1447705401	19	P>L		No	ClinGen gnomAD
rs1203390971 CA401004699	21	N>D		No	ClinGen gnomAD
rs375738345 CA8760068	21	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375738345 CA8760067	21	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8760065 rs551110589	22	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401004694 rs551110589	22	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8760063 rs748411174	22	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8760064 rs748411174	22	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1189301208 CA401004689	23	Q>R		No	ClinGen TOPMed
CA8760062 rs781077057	25	D>E		No	ClinGen ExAC gnomAD
rs1290420133 CA401004665	26	W>S		No	ClinGen gnomAD
CA401004659 rs1237807248	27	E>K		No	ClinGen TOPMed
CA401004642 rs1474905848	29	I>V		No	ClinGen TOPMed
rs1598413766 CA401004627	31	G>V		No	ClinGen Ensembl
rs751658913 CA8760060	33	C>G		No	ClinGen ExAC gnomAD
rs1313903006 CA401004598	35	Q>R		No	ClinGen gnomAD
rs757308938 CA8760058	37	N>S		No	ClinGen ExAC gnomAD
rs202128078 CA294025341	46	A>T		No	ClinGen 1000Genomes gnomAD
rs747091327 CA8760042	47	V>I		No	ClinGen ExAC TOPMed gnomAD
CA401004506 rs747091327	47	V>L		No	ClinGen ExAC TOPMed gnomAD
CA294025328 rs757220986	48	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8760040 rs757220986	48	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8760039 rs187251634	48	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8760038 rs201806474	52	H>Y		No	ClinGen ExAC TOPMed
rs1426033676 CA401004475	53	K>E		No	ClinGen TOPMed gnomAD
rs370372329 CA8760037	53	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs752497874 CA8760036	54	I>F		No	ClinGen ExAC TOPMed gnomAD
CA401004465 rs1203638873	54	I>S		No	ClinGen TOPMed gnomAD
rs1465619065 CA401004463	55	Q>*		No	ClinGen TOPMed gnomAD
rs767164476 CA8760035	56	S>A		No	ClinGen ExAC gnomAD
CA401004451 rs1203544801	56	S>F		No	ClinGen gnomAD
CA401004445 rs1443339124	57	P>L		No	ClinGen gnomAD
CA401004448 rs1350241624	57	P>S		No	ClinGen gnomAD
CA294025313 rs916315292	58	Q>*		No	ClinGen TOPMed
rs527797539 CA294025307	61	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA8760034 rs200222650	62	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765882673 CA8760032	64	Q>R		No	ClinGen ExAC
rs545080902 CA8760031	65	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8760029 rs201248077	67	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751312773 CA294024419	71	A>T		No	ClinGen Ensembl
rs1236056036 CA401004343	72	C>R		No	ClinGen TOPMed
rs758097137 CA8759997	73	M>V		No	ClinGen ExAC gnomAD
rs1173529003 CA401004307	76	C>*		No	ClinGen gnomAD
rs749889234 CA8759996	76	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1352371247 CA401004310	76	C>Y		No	ClinGen TOPMed
rs554782520 CA8759995	77	G>W		No	ClinGen 1000Genomes ExAC
rs906130883 CA294024404	79	R>K		No	ClinGen gnomAD
CA8759992 rs754313719	81	H>R		No	ClinGen ExAC gnomAD
rs149401512 CA8759989	83	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1037147437 CA294024389	87	F>L		No	ClinGen TOPMed gnomAD
CA401004193 rs1419296368	88	R>C		No	ClinGen TOPMed
CA8759987 rs199971286	88	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401004105 rs1220510383	95	K>I		No	ClinGen gnomAD
CA8759983 rs776432859	97	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1322740635 CA401004067	99	P>A		No	ClinGen TOPMed
rs1051389902 CA294024367	99	P>L		No	ClinGen Ensembl
CA8759937 rs769438918	102	L>V		No	ClinGen ExAC TOPMed gnomAD
CA294023857 rs200060705	103	G>R		No	ClinGen Ensembl
CA294023854 rs868834123	104	D>N		No	ClinGen Ensembl
CA401003506 rs1174503332	105	R>K		No	ClinGen gnomAD
rs747731288 CA8759936	106	V>M		No	ClinGen ExAC gnomAD
CA401003488 rs1376053196	107	S>T		No	ClinGen gnomAD
CA8759935 rs781756469	108	E>K		No	ClinGen ExAC gnomAD
rs1191352852 CA401003438	111	K>E		No	ClinGen gnomAD
CA8759931 rs758483120	115	I>M		No	ClinGen ExAC gnomAD
rs780499128 CA8759932	115	I>T		No	ClinGen ExAC gnomAD
CA401003392 rs1280691791	115	I>V		No	ClinGen gnomAD
CA401003370 rs1229542935	117	L>M		No	ClinGen TOPMed
rs1341785425 CA401003345	119	Y>F		No	ClinGen gnomAD
rs1215815088 CA401003329	120	S>I		No	ClinGen TOPMed
CA8759928 rs761875966	123	M>V		No	ClinGen ExAC TOPMed gnomAD
rs200511280 CA401003274	126	P>L		No	ClinGen Ensembl
rs200511280 CA294023831	126	P>R		No	ClinGen Ensembl
CA8759927 rs186396071	128	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs912675113 CA294023826	128	E>K		No	ClinGen TOPMed
rs767419056 CA8759926	131	I>M		No	ClinGen ExAC gnomAD
CA401003244 rs1416429979	131	I>V		No	ClinGen gnomAD
VAR_075715 rs117805695 CA8759925	132	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369084305 CA8759923	134	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA294023782 rs1022841418	136	H>P		No	ClinGen TOPMed
CA8759921 rs752453829	137	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8759919 rs747642068	140	R>K		No	ClinGen ExAC gnomAD
CA401003171 rs1255078976	141	Q>H		No	ClinGen gnomAD
rs1440445130 CA401003173	141	Q>R		No	ClinGen gnomAD
CA401003154 rs1298692065	142	G>D		No	ClinGen gnomAD
CA401003169 rs1350496273	142	G>S		No	ClinGen TOPMed
CA294023561 rs981113628	143	I>M		No	ClinGen gnomAD
rs760065279 CA8759879	144	V>L		No	ClinGen ExAC TOPMed gnomAD
CA401003145 rs760065279	144	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401003136 rs774631080	145	Q>P		No	ClinGen ExAC gnomAD
CA8759878 rs774631080	145	Q>R		No	ClinGen ExAC gnomAD
rs1414675996 CA401003130	146	S>C		No	ClinGen gnomAD
rs771293886 CA8759877	146	S>P		No	ClinGen ExAC
rs1023052001 CA294023551	147	D>E		No	ClinGen Ensembl
rs1426726556 CA401003128	147	D>N		No	ClinGen gnomAD
CA401003106 rs1188921859	150	I>N		No	ClinGen gnomAD
CA401003108 rs1567787182	150	I>V		No	ClinGen Ensembl
CA401003101 rs1598403429	151	P>A		No	ClinGen Ensembl
CA401003087 rs1477348110	153	D>A		No	ClinGen gnomAD
CA401003078 rs1268833395	154	R>K		No	ClinGen TOPMed gnomAD
CA401003080 rs1268833395	154	R>M		No	ClinGen TOPMed gnomAD
rs968580607 CA401003072	155	T>K		No	ClinGen TOPMed gnomAD
rs968580607 CA401003071	155	T>M		No	ClinGen TOPMed gnomAD
rs968580607 CA294023546	155	T>R		No	ClinGen TOPMed gnomAD
rs778050483 CA8759874	156	L>P		No	ClinGen ExAC gnomAD
rs778050483 CA401003067	156	L>Q		No	ClinGen ExAC gnomAD
rs748213030 CA8759872	158	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748213030 CA401003056	158	P>R		No	ClinGen ExAC TOPMed gnomAD
rs201550425 CA8759871	160	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758348986 CA8759870	161	P>A		No	ClinGen ExAC gnomAD
CA8759869 rs143034707	161	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143034707 CA8759868	161	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401003036 rs757114764	162	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8759867 rs757114764	162	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1278776455 CA401003033	163	R>C		No	ClinGen TOPMed gnomAD
CA8759866 rs138195354	163	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs532125122 CA8759865	164	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA401003029 rs1338231649	164	P>S		No	ClinGen gnomAD
rs1338231649 CA401003028	164	P>T		No	ClinGen gnomAD
CA8759864 rs752210133	167	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8759863 rs752210133	167	P>R		No	ClinGen ExAC TOPMed gnomAD
CA401003007 rs1448359663	167	P>S		No	ClinGen gnomAD
CA401003005 rs1413426498	168	V>I		No	ClinGen gnomAD
rs1488588972 CA401002995	169	F>Y		No	ClinGen TOPMed
CA8759859 rs774823114	171	D>E		No	ClinGen ExAC gnomAD
rs774823114 CA401002978	171	D>E		No	ClinGen ExAC gnomAD
rs759974892 CA401002982	171	D>H		No	ClinGen ExAC gnomAD
CA8759860 rs759974892	171	D>N		No	ClinGen ExAC gnomAD
rs768776178 CA8759858	172	E>D		No	ClinGen ExAC TOPMed
CA294023509 rs1035374360	172	E>G		No	ClinGen TOPMed
rs372068946 CA294023510	172	E>K		No	ClinGen ESP TOPMed gnomAD
CA401002971 rs773474107	173	E>*		No	ClinGen ExAC gnomAD
CA401002966 rs1483761310	173	E>D		No	ClinGen gnomAD
rs773474107 CA8759856	173	E>K		No	ClinGen ExAC gnomAD
CA401002961 rs1208210917	174	K>R		No	ClinGen gnomAD
rs1258789868 CA401002954	175	S>F		No	ClinGen gnomAD
CA401002957 rs1322919968	175	S>T		No	ClinGen gnomAD
CA401002929 rs1352040401	177	L>F		No	ClinGen gnomAD
CA8759834 rs773562648	177	L>R		No	ClinGen ExAC gnomAD
rs1318382193 CA401002883	184	S>T		No	ClinGen gnomAD
rs1180688787 CA401002875	185	K>R		No	ClinGen gnomAD
rs1249907641 CA401002865	186	N>K		No	ClinGen gnomAD
rs1437917007 CA401002868	186	N>T		No	ClinGen gnomAD
rs765537822 CA8759833	187	P>T		No	ClinGen ExAC TOPMed gnomAD
CA401002855 rs1567786241	188	D>A		No	ClinGen Ensembl
rs762296931 CA8759832	189	D>H		No	ClinGen ExAC gnomAD
rs1567786212 CA401002839	190	L>P		No	ClinGen Ensembl
CA294023435 rs915608707	191	Q>R		No	ClinGen TOPMed gnomAD
rs769042125 CA401002830	192	E>*		No	ClinGen ExAC gnomAD
rs769042125 CA8759830	192	E>K		No	ClinGen ExAC gnomAD
CA8759827 rs770949971	195	K>N		No	ClinGen ExAC gnomAD
rs747065681 CA8759829	195	K>R		No	ClinGen ExAC gnomAD
CA294023423 rs962676009	198	K>N		No	ClinGen TOPMed gnomAD
CA401002779 rs1301790123	199	S>F		No	ClinGen gnomAD
CA8759825 rs777565423	200	M>T		No	ClinGen ExAC gnomAD
rs1361504783 CA401002767	201	V>E		No	ClinGen gnomAD
CA294023250 rs781148327	204	D>G		No	ClinGen Ensembl
rs1481990493 CA401002726	205	E>G		No	ClinGen gnomAD
rs749990995 CA8759799	205	E>K		No	ClinGen ExAC gnomAD
CA401002720 rs1284967539	206	A>S		No	ClinGen TOPMed
rs1442721143 CA401002717	206	A>V		No	ClinGen gnomAD
CA8759796 rs757806535	207	R>Q		No	ClinGen ExAC gnomAD
rs372653160 CA8759797	207	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs754212273 CA8759795	211	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1225727001 CA401002688	211	V>L		No	ClinGen gnomAD
CA401002684 rs1335111329	212	T>A		No	ClinGen gnomAD
CA8759794 rs764556685	212	T>N		No	ClinGen ExAC gnomAD
rs1336135215 CA401002674	213	K>N		No	ClinGen TOPMed gnomAD
CA8759792 rs752954757	214	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8759791 rs767843294	214	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759500242 CA8759790	217	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8759789 rs774535643	217	T>M		No	ClinGen ExAC TOPMed gnomAD
rs769567399 CA8759788	218	L>F		No	ClinGen ExAC gnomAD
CA8759786 rs52809447	219	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759787 rs78338345	219	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401002634 rs1431009220	220	E>V		No	ClinGen TOPMed
CA401002630 rs1400562653	221	V>F		No	ClinGen TOPMed
CA294023194 rs909573663	224	N>S		No	ClinGen Ensembl
rs771807670 CA8759782	225	V>M		No	ClinGen ExAC
rs1226460050 CA401002583	228	L>F		No	ClinGen TOPMed
CA401002582 rs200301750	228	L>H		No	ClinGen TOPMed
CA294023168 rs200301750	228	L>P		No	ClinGen TOPMed
CA294023165 rs929905482	229	S>R		No	ClinGen Ensembl
CA8759779 rs778518843	230	E>D		No	ClinGen ExAC gnomAD
CA401002558 rs1247317366	231	M>I		No	ClinGen gnomAD
rs1285144136 CA401002562	231	M>T		No	ClinGen gnomAD
rs1314581420 CA401002550	233	L>F		No	ClinGen gnomAD
rs1314581420 CA401002551	233	L>V		No	ClinGen gnomAD
rs762353926 CA294023154	234	H>R		No	ClinGen gnomAD
rs754406366 CA8759777	237	Q>*		No	ClinGen ExAC gnomAD
CA8759776 rs778478353	237	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8759775 rs543537775	238	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA401002498 rs1164753286	240	S>F		No	ClinGen gnomAD
CA294023146 rs1052944823	240	S>T		No	ClinGen TOPMed
rs976623193 CA294023143	241	S>L		No	ClinGen TOPMed gnomAD
rs759824501 CA8759771	243	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401002478 rs766495962	244	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8759769 rs766495962	244	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs201115516 CA8759768	245	R>K		No	ClinGen ExAC TOPMed gnomAD
rs776546246 CA8759767	246	E>V		No	ClinGen ExAC TOPMed gnomAD
rs768625585 CA8759766	248	M>T		No	ClinGen ExAC TOPMed gnomAD
rs200204002 CA8759728	252	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1331580622 CA401002396	254	Q>E		No	ClinGen TOPMed
CA8759727 rs150145405	258	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759726 rs755985977	259	R>G		No	ClinGen ExAC gnomAD
CA8759724 rs368953900	259	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759725 rs368953900	259	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759721 rs766079505	260	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774062810 CA8759722	260	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8759718 rs772779653	264	K>E		No	ClinGen ExAC gnomAD
rs1162254964 CA401002263	266	A>S		No	ClinGen TOPMed
CA401002265 rs1162254964	266	A>T		No	ClinGen TOPMed
CA401002254 rs372544184	267	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372544184 CA8759713	267	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs933617968 CA294021816	267	S>N		No	ClinGen TOPMed gnomAD
rs772219426 CA8759711	272	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8759712 rs780431844	272	N>S		No	ClinGen ExAC gnomAD
rs1468797803 CA401002162	273	D>G		No	ClinGen gnomAD
CA401002124 rs1366742693	275	S>N		No	ClinGen TOPMed
CA401002116 rs1171937608	275	S>R		No	ClinGen gnomAD
CA401002106 rs1409746253	276	L>S		No	ClinGen TOPMed
rs1387520164 CA401002092	277	G>W		No	ClinGen gnomAD
rs970711593 CA294021742	278	D>H		No	ClinGen TOPMed gnomAD
rs970711593 CA401002013	278	D>Y		No	ClinGen TOPMed gnomAD
rs771103926 CA8759688	281	Q>K		No	ClinGen ExAC gnomAD
rs1222061528 CA401001956	281	Q>R		No	ClinGen TOPMed gnomAD
CA401001921 rs1289147225	283	S>I		No	ClinGen gnomAD
rs777744784 CA8759686	284	D>G		No	ClinGen ExAC gnomAD
CA294021730 rs1012727937	287	S>F		No	ClinGen TOPMed
CA401001834 rs1253818685	288	R>Q		No	ClinGen TOPMed
CA8759685 rs754876742	288	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8759682 rs758238529	290	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1246926330 CA401001778	291	N>K		No	ClinGen TOPMed
CA401001788 rs1298055447	291	N>T		No	ClinGen gnomAD
rs750293219 CA8759681	293	Y>*		No	ClinGen ExAC gnomAD
CA294021718 rs1053736897	296	I>S		No	ClinGen Ensembl
rs1447171448 CA401001696	296	I>V		No	ClinGen TOPMed
rs764895015 CA8759680	297	I>T		No	ClinGen ExAC TOPMed gnomAD
CA401001665 rs1381052889	298	E>K		No	ClinGen TOPMed gnomAD
CA8759679 rs140876727	303	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753326040 CA8759678	305	E>K		No	ClinGen ExAC gnomAD
CA8759677 rs763527658	306	V>G		No	ClinGen ExAC
rs1490798678 CA401001531	306	V>M		No	ClinGen gnomAD
CA401001515 rs1172426559	307	A>T		No	ClinGen TOPMed
CA8759676 rs566323198	307	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8759675 rs775968472	308	T>A		No	ClinGen ExAC gnomAD
rs774716855 CA8759672	311	L>P		No	ClinGen ExAC TOPMed
rs759866974 CA8759673	311	L>V		No	ClinGen ExAC gnomAD
rs201892707 CA8759670	314	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315747013 CA401001387	314	S>T		No	ClinGen TOPMed gnomAD
rs201892707 CA8759671	314	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8759650 rs139136653	318	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748190028 CA8759649	320	C>Y		No	ClinGen ExAC
CA8759647 VAR_075716 rs146877619	321	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772072014 CA8759646	321	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8759645 rs745817823	322	N>K		No	ClinGen ExAC gnomAD
rs755834137 CA8759643	325	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8759644 rs755834137	325	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749144161 CA8759642	326	L>F		No	ClinGen ExAC
rs374264437 CA8759641	327	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759637 rs752159231	328	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8759636 rs767018135	328	D>E		No	ClinGen ExAC gnomAD
rs893588366 CA8759638	328	D>N		No	ClinGen TOPMed
CA8759634 rs751994794	329	L>F		No	ClinGen ExAC gnomAD
CA8759635 rs751994794	329	L>V		No	ClinGen ExAC gnomAD
CA294021498 rs919471299	330	A>S		No	ClinGen TOPMed gnomAD
rs766974495 CA8759633	330	A>V		No	ClinGen ExAC gnomAD
CA8759631 rs376358181	331	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173806730 CA401001018	332	L>V		No	ClinGen gnomAD
rs1326108909 CA401000998	333	D>E		No	ClinGen gnomAD
CA8759630 rs765515968	334	T>A		No	ClinGen ExAC gnomAD
CA8759629 rs762131151	334	T>M		No	ClinGen ExAC gnomAD
CA401000973 rs1233810794	336	N>S		No	ClinGen TOPMed
CA401000965 rs1483078792	337	S>G		No	ClinGen TOPMed
rs768846061 CA8759627	337	S>T		No	ClinGen ExAC gnomAD
rs763261426 CA294021480	339	S>P		No	ClinGen Ensembl
rs774122056 CA401000925	341	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8759625 rs774122056	341	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8759624 rs527804579	342	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1567782223 CA401000902	343	A>V		No	ClinGen Ensembl
CA401000901 rs748982644	344	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8759623 rs748982644	344	P>T		No	ClinGen ExAC TOPMed gnomAD
CA294021470 rs1046579045	345	A>E		No	ClinGen TOPMed gnomAD
rs368926791 CA294021469	346	P>L		No	ClinGen Ensembl
rs769369624 CA8759621	347	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769369624 CA401000879	347	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8759620 rs571601010	348	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438869145 CA401000874	348	P>L		No	ClinGen gnomAD
CA294021459 rs916801154	349	P>L		No	ClinGen TOPMed
rs1275678501 CA401000871	349	P>S		No	ClinGen gnomAD
CA294021450 rs1051471	351	S>P		No	ClinGen Ensembl
rs1598395222 CA401000854	352	G>D		No	ClinGen Ensembl
CA401000855 rs1339080612	352	G>R		No	ClinGen gnomAD
CA8759618 rs754478391	353	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8759616 rs780377886	354	P>A		No	ClinGen ExAC gnomAD
rs750687241 CA8759614	355	I>V		No	ClinGen ExAC gnomAD
CA401000832 rs1326714715	356	L>F		No	ClinGen gnomAD
rs1433735972 CA401000829	356	L>P		No	ClinGen TOPMed
CA8759612 rs762329460	357	P>L		No	ClinGen ExAC gnomAD
CA401000824 rs762329460	357	P>R		No	ClinGen ExAC gnomAD
rs754111726 CA8759611	358	P>L		No	ClinGen ExAC gnomAD
CA8759610 rs377592301	359	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760646901 CA8759609	361	Q>R		No	ClinGen ExAC gnomAD
rs770730028 CA8759607	362	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772932966 CA8759605	365	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762949484 CA8759606	365	P>T		No	ClinGen ExAC gnomAD
rs369877572 CA401000771	367	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401000772 rs369877572	367	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369877572 CA8759602	367	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142435406 CA8759603	367	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768320879 CA8759601	368	S>N		No	ClinGen ExAC gnomAD
rs148801414 CA8759600	369	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs779620659 CA8759599	369	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758774786 CA401000753	371	S>A		No	ClinGen ExAC TOPMed gnomAD
rs750932108 CA8759597	371	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758774786 CA8759598	371	S>P		No	ClinGen ExAC TOPMed gnomAD
CA8759596 rs144322514	373	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112645273 CA294021399	375	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294021393 rs1013920406	375	E>G		No	ClinGen Ensembl
rs112645273 CA8759593	375	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8759592 rs112645273	375	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294021392 rs997944528	376	A>T		No	ClinGen TOPMed
rs965270072 CA294021389	377	T>N		No	ClinGen TOPMed gnomAD
CA8759591 rs752648894	378	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401000707 rs1157393885	379	G>E		No	ClinGen gnomAD
rs1430474515 CA401000677	383	T>I		No	ClinGen gnomAD
rs1598394599 CA401000669	384	S>R		No	ClinGen Ensembl
rs141130762 CA8759587	386	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761548877 CA8759586	387	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401000637 rs1448880275	389	W>C		No	ClinGen gnomAD
CA294021374 rs756879973	389	W>R		No	ClinGen TOPMed gnomAD
rs200049172 CA8759583	391	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294021369 rs751006089	391	D>N		No	ClinGen Ensembl
rs764688997 CA8759582	392	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771609574 CA8759581	395	L>F		No	ClinGen ExAC gnomAD
rs745415655 CA8759580	397	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401000586 rs1432439220	398	G>S		No	ClinGen gnomAD
CA400999997 rs1451225265	399	L>P		No	ClinGen TOPMed gnomAD
rs139958143 CA8759548	400	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8759549 rs139958143	400	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1598392444 CA400999975	401	D>A		No	ClinGen Ensembl
rs1049584155 CA400999981	401	D>H		No	ClinGen TOPMed gnomAD
CA294021141 rs1049584155	401	D>N		No	ClinGen TOPMed gnomAD
rs755187544 CA8759546	402	P>L		No	ClinGen ExAC gnomAD
CA8759545 rs751572296	403	A>S		No	ClinGen ExAC gnomAD
CA400999955 rs751572296	403	A>T		No	ClinGen ExAC gnomAD
CA400999946 rs1417552713	403	A>V		No	ClinGen TOPMed
rs543948130 CA8759544	404	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400999935 rs1161781033	404	P>L		No	ClinGen gnomAD
CA400999931 rs1408644846	405	N>D		No	ClinGen gnomAD
CA8759542 rs574983651	406	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8759541 rs763980908	407	P>L		No	ClinGen ExAC gnomAD
CA400999877 rs1289079168	409	K>R		No	ClinGen gnomAD
rs201782332 CA8759539	412	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400999833 rs1316921578	412	A>V		No	ClinGen gnomAD
CA8759538 rs767154165	413	G>R		No	ClinGen ExAC gnomAD
CA400999812 rs773937740	414	N>S		No	ClinGen ExAC gnomAD
rs773937740 CA8759536	414	N>T		No	ClinGen ExAC gnomAD
CA400999758 rs1301460710	417	W>C		No	ClinGen gnomAD
rs1367705801 CA400999769	417	W>R		No	ClinGen gnomAD
rs1367705801 CA400999771	417	W>R		No	ClinGen gnomAD
rs1457473303 CA400999741	418	H>Q		No	ClinGen gnomAD
rs184594475 CA8759533	420	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294020980 rs926425317	422	R>G		No	ClinGen TOPMed
CA400999630 rs1462256245	422	R>M		No	ClinGen gnomAD
rs769005830 CA8759508	423	E>G		No	ClinGen ExAC gnomAD
rs747417600 CA8759507	425	S>C		No	ClinGen ExAC gnomAD
rs1271733413 CA400999595	425	S>P		No	ClinGen gnomAD
CA400999576 rs780235622	426	D>E		No	ClinGen ExAC TOPMed gnomAD
CA294020973 rs971877611	426	D>N		No	ClinGen TOPMed gnomAD
rs1184802064 CA400999561	428	D>Y		No	ClinGen gnomAD
rs1254641585 CA400999516	431	S>G		No	ClinGen gnomAD
rs1200253093 CA400999509	431	S>I		No	ClinGen gnomAD
CA400999505 rs1340415077	431	S>R		No	ClinGen TOPMed gnomAD
rs1226446006 CA400999494	432	P>L		No	ClinGen gnomAD
rs1253370722 CA400999501	432	P>S		No	ClinGen gnomAD
CA400999482 rs1315787197	433	R>S		No	ClinGen gnomAD
rs1315787197 CA400999483	433	R>S		No	ClinGen gnomAD
CA8759505 rs772307617	434	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400999479 rs1454613479	434	P>S		No	ClinGen gnomAD
CA400999443 rs377214878	437	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377214878 CA8759503	437	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1411019468 CA400999433	438	A>T		No	ClinGen TOPMed gnomAD
CA400999423 rs1385358800	438	A>V		No	ClinGen gnomAD
rs1422022521 CA400999418	439	C>S		No	ClinGen gnomAD
CA294020957 rs372621593	440	G>A		No	ClinGen ESP TOPMed
rs541510883 CA400999389	441	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541510883 CA8759501	441	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438815941 CA400999370	442	S>F		No	ClinGen gnomAD
CA8759500 rs781342118	443	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1292719210 CA400999350	444	A>T		No	ClinGen TOPMed gnomAD
CA294020953 rs1000705016	444	A>V		No	ClinGen TOPMed
CA400999333 rs1201939461	445	P>L		No	ClinGen gnomAD
rs1248274464 CA400999339	445	P>S		No	ClinGen gnomAD
CA400999296 rs1283590947	449	P>S		No	ClinGen gnomAD
CA400999277 rs1239659417	450	S>L		No	ClinGen gnomAD
rs766079693 CA8759497	452	P>L		No	ClinGen ExAC gnomAD
CA400999261 rs1408949624	452	P>S		No	ClinGen gnomAD
rs1029019742 CA294020952	453	S>P		No	ClinGen TOPMed gnomAD
rs1000160793 CA294020951	454	S>*		No	ClinGen gnomAD
CA400999231 rs758154876	455	S>R		No	ClinGen ExAC TOPMed gnomAD
rs559299321 CA8759495	456	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1220671683 CA400999228	456	S>N		No	ClinGen gnomAD
rs1436911142 CA400999222	457	S>P		No	ClinGen TOPMed
CA400999208 rs1180505478	459	A>P		No	ClinGen gnomAD
rs1225005855 CA400999195	461	L>Q		No	ClinGen TOPMed gnomAD
rs1225005855 CA400999193	461	L>R		No	ClinGen TOPMed gnomAD
rs764641285 CA8759494	462	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8759492 rs776974508	463	P>T		No	ClinGen ExAC gnomAD
CA8759491 rs201217382	464	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759490 rs577028145	467	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1284867202 CA400999144	470	V>F		No	ClinGen TOPMed gnomAD
rs1284867202 CA400999146	470	V>I		No	ClinGen TOPMed gnomAD
CA8759489 rs775868260	471	P>A		No	ClinGen ExAC gnomAD
rs374065325 CA8759488	474	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201721759 CA8759487	476	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400999104 rs1327133347	477	P>A		No	ClinGen TOPMed
CA400999101 rs1402661140	477	P>R		No	ClinGen TOPMed
rs1056776228 CA294020929	478	S>G		No	ClinGen TOPMed
CA400999095 rs1457109486	478	S>N		No	ClinGen gnomAD
CA8759484 rs770907958	479	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8759482 rs781250687	480	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1246306205 CA400999079	481	S>Y		No	ClinGen gnomAD
rs1178473582 CA400999071	482	S>F		No	ClinGen Ensembl
CA8759480 rs202191929	483	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400999064 rs1208014959	484	F>I		No	ClinGen gnomAD
CA8759478 rs780008894	484	F>L		No	ClinGen ExAC
CA8759476 rs370889903	485	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756702602 CA8759473	486	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756702602 CA8759474	486	T>S		No	ClinGen ExAC TOPMed gnomAD
rs764548192 CA8759471	487	G>R		No	ClinGen ExAC gnomAD
rs1432289329 CA400999039	488	V>A		No	ClinGen gnomAD
CA8759470 rs761179039	489	A>D		No	ClinGen ExAC gnomAD
rs1434987012 CA400999027	490	P>L		No	ClinGen gnomAD
rs1407351485 CA400999021	491	A>V		No	ClinGen TOPMed gnomAD
CA400999017 rs1413075272	492	L>W		No	ClinGen TOPMed gnomAD
CA8759468 rs767850853	495	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8759466 rs372063338	499	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400998957 rs1187893542	500	V>I		No	ClinGen gnomAD
rs142992424 CA8759464	501	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759465 rs771231537	501	P>S		No	ClinGen ExAC gnomAD
rs1207770769 CA400998940	502	G>R		No	ClinGen gnomAD
rs987299552 CA294020887	503	H>Y		No	ClinGen gnomAD
CA8759461 rs368281017	504	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759462 rs768647748	504	H>Y		No	ClinGen ExAC gnomAD
rs1477871834 CA400998900	506	L>S		No	ClinGen Ensembl
CA8759458 rs778383285	507	A>G		No	ClinGen ExAC TOPMed gnomAD
rs771733945 CA8759459	507	A>T		No	ClinGen ExAC gnomAD
CA8759457 rs778383285	507	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400998873 rs1329849604	509	G>D		No	ClinGen gnomAD
CA294020869 rs978833631	509	G>R		No	ClinGen TOPMed gnomAD
CA400998868 rs1431826462	510	N>H		No	ClinGen gnomAD
rs777282614 CA8759454	510	N>S		No	ClinGen ExAC gnomAD
CA8759453 rs755674943	511	S>G		No	ClinGen ExAC gnomAD
CA8759451 rs141316552	512	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759450 rs759796114	512	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8759448 rs766470619	514	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA400998819 rs1273405353	515	H>N		No	ClinGen TOPMed gnomAD
rs1273405353 CA400998817	515	H>Y		No	ClinGen TOPMed gnomAD
rs773626971 CA8759446	516	L>V		No	ClinGen ExAC gnomAD
rs769990321 CA8759445	517	D>Y		No	ClinGen ExAC gnomAD
rs1227081920 CA400998789	518	A>T		No	ClinGen TOPMed gnomAD
rs539752229 CA8759443	520	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8759442 rs539752229	520	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA400998750 rs1173165941	521	Q>H		No	ClinGen TOPMed
rs1368959837 CA400998754	521	Q>R		No	ClinGen gnomAD
CA294020858 rs960288768	522	L>F		No	ClinGen gnomAD
rs960288768 CA400998748	522	L>I		No	ClinGen gnomAD
rs1351677113 CA400998713	525	E>A		No	ClinGen gnomAD
rs1162659048 CA400998703	526	A>S		No	ClinGen TOPMed gnomAD
rs778778105 CA8759440	527	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8759438 rs748922509	528	V>A		No	ClinGen ExAC gnomAD
CA400998685 rs770437607	528	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770437607 CA8759439	528	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8759411 rs148279153	529	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386290202 CA400997968	530	S>L		No	ClinGen gnomAD
CA400997962 rs1322537322	531	G>D		No	ClinGen gnomAD
rs1467335124 CA400997916	535	P>L		No	ClinGen gnomAD
rs1176912731 CA400997918	535	P>S		No	ClinGen gnomAD
CA400997878 rs866396319	539	P>H		No	ClinGen gnomAD
CA294020728 rs866396319	539	P>L		No	ClinGen gnomAD
rs1249316983 CA400997879	539	P>S		No	ClinGen gnomAD
CA294020725 rs1004521080	540	L>F		No	ClinGen Ensembl
CA400997858 rs1247899854	541	I>F		No	ClinGen gnomAD
rs553093029 CA8759408	542	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765518042 CA8759406	544	T>N		No	ClinGen ExAC gnomAD
CA400997813 rs1239140764	545	T>P		No	ClinGen TOPMed
CA8759405 rs757560198	545	T>S		No	ClinGen ExAC gnomAD
rs1014327977 CA294020704	546	P>S		No	ClinGen TOPMed
rs1226209588 CA400997792	547	A>T		No	ClinGen gnomAD
CA400997784 rs1364388349	547	A>V		No	ClinGen gnomAD
rs753805959 CA8759403	548	R>K		No	ClinGen ExAC TOPMed gnomAD
rs764224303 CA8759402	549	P>S		No	ClinGen ExAC gnomAD
rs774310944 CA400997758	550	L>F		No	ClinGen ExAC gnomAD
CA8759400 rs774310944	550	L>I		No	ClinGen ExAC gnomAD
CA8759399 rs766349414	554	S>C		No	ClinGen ExAC TOPMed gnomAD
CA294020692 rs539789725	555	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1425986942 CA400997688	556	G>E		No	ClinGen gnomAD
CA8759398 rs762684898	556	G>W		No	ClinGen ExAC TOPMed gnomAD
CA8759396 rs769368011	557	P>L		No	ClinGen ExAC gnomAD
rs773020805 CA8759397	557	P>S		No	ClinGen ExAC gnomAD
rs201862803 CA8759394	558	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746550253 CA8759392	560	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759007635 CA8759390	561	L>F		No	ClinGen ExAC TOPMed gnomAD
CA400997623 rs1311785916	561	L>P		No	ClinGen gnomAD
rs371729859 CA294020670	562	F>L		No	ClinGen ESP
rs779436228 CA8759388	562	F>S		No	ClinGen ExAC gnomAD
rs200503191 CA8759387	563	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1390809033 CA400997595	563	Q>H		No	ClinGen gnomAD
rs199832719 CA8759386	563	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA400997566 rs1474076675	566	S>N		No	ClinGen gnomAD
rs367837492 CA8759384	566	S>R		No	ClinGen ESP ExAC TOPMed
rs1194029702 CA400997539	568	Q>*		No	ClinGen TOPMed
CA8759382 rs375885510	568	Q>H		No	ClinGen ESP ExAC gnomAD
CA8759383 rs375885510	568	Q>H		No	ClinGen ESP ExAC gnomAD
rs1267817229 CA400997520	569	S>F		No	ClinGen TOPMed
CA8759381 rs762881402	570	Q>*		No	ClinGen ExAC gnomAD
CA8759378 rs765002892	573	P>A		No	ClinGen ExAC TOPMed
CA400997473 rs765002892	573	P>S		No	ClinGen ExAC TOPMed
rs201488145 CA8759377	574	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs776324450 VAR_036524 CA8759376	574	P>L	a breast cancer sample; somatic mutation [UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
rs776324450 CA400997458	574	P>Q		No	ClinGen ExAC gnomAD
rs760190290 CA8759373	577	P>S		No	ClinGen ExAC gnomAD
CA8759372 rs775141748	583	S>G		No	ClinGen ExAC gnomAD
CA8759371 rs772646783	583	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8759370 rs746360559	585	H>Y		No	ClinGen ExAC gnomAD
rs771395482 CA8759368	586	V>M		No	ClinGen ExAC gnomAD
CA294020628 rs911610846	587	P>L		No	ClinGen TOPMed gnomAD
CA400997297 rs911610846	587	P>R		No	ClinGen TOPMed gnomAD
rs778005857 CA8759366	589	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8759365 rs146451191	590	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759362 rs755109345	593	P>H		No	ClinGen ExAC gnomAD
rs766845445 CA294020454	595	S>G		No	ClinGen ExAC TOPMed gnomAD
rs766845445 CA8759333	595	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1332336800 CA400997113	596	A>T		No	ClinGen TOPMed
CA294020451 rs961937520	596	A>V		No	ClinGen TOPMed
CA8759332 rs763386275	597	L>F		No	ClinGen ExAC gnomAD
rs773828448 CA8759331	599	V>L		No	ClinGen ExAC gnomAD
rs773828448 CA400997082	599	V>M		No	ClinGen ExAC gnomAD
CA8759330 rs199519887	600	T>I		No	ClinGen ExAC gnomAD
CA400997053 rs1190305240	601	A>V		No	ClinGen Ensembl
CA400997045 rs748552612	602	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA8759328 rs373320990	603	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759327 rs768897480	606	G>S		No	ClinGen ExAC gnomAD
rs145396768 CA8759325	608	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8759324 rs758561129	608	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8759322 rs777802457	609	I>V		No	ClinGen ExAC gnomAD
CA8759321 rs755946896	611	F>L		No	ClinGen ExAC gnomAD
rs1434994491 CA400996984	612	H>N		No	ClinGen TOPMed
CA400996980 rs1244501594	612	H>R		No	ClinGen gnomAD
CA8759319 rs767241741	615	K>Q		No	ClinGen ExAC gnomAD
CA400996960 rs1368763044	615	K>T		No	ClinGen TOPMed gnomAD
CA8759318 rs76982026	616	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs76982026 CA294020422	616	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751058245 CA8759317	619	P>Q		No	ClinGen ExAC gnomAD
rs145442317 CA294020416	620	G>A		No	ClinGen ESP gnomAD
rs145442317 CA400996927	620	G>E		No	ClinGen ESP gnomAD
CA8759316 rs765795873	621	R>*		No	ClinGen ExAC TOPMed gnomAD
rs376622717 CA8759315	621	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8759314 rs374639246	622	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762124045 CA8759312	624	V>M		No	ClinGen ExAC gnomAD
rs1322878363 CA400996880	629	V>M		No	ClinGen gnomAD
rs1376881048 CA400996865	631	M>T		No	ClinGen TOPMed
CA400996859 rs938705056	632	L>V		No	ClinGen TOPMed gnomAD
rs768807486 CA8759310	634	T>K		No	ClinGen ExAC gnomAD
CA400996843 rs768807486	634	T>M		No	ClinGen ExAC gnomAD
rs775846027 CA8759308	635	A>V		No	ClinGen ExAC gnomAD
rs141085620 CA294020401	636	P>S		No	ClinGen ESP gnomAD
rs1351554662 CA400996817	639	V>I		No	ClinGen gnomAD
rs746004783 CA8759306	640	K>R		No	ClinGen ExAC TOPMed gnomAD
CA400996805 rs1460784405	641	S>G		No	ClinGen gnomAD
rs777527757 CA8759305	641	S>N		No	ClinGen ExAC gnomAD
CA8759304 rs756156146	642	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781150047 CA8759302	643	V>A		No	ClinGen ExAC gnomAD
CA8759301 rs754880315	646	A>G		No	ClinGen ExAC gnomAD
rs751168174 CA8759300	647	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766096783 CA8759299	647	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400996753 rs1367602953	650	K>E		No	ClinGen gnomAD
CA294020378 rs752228307	650	K>R		No	ClinGen gnomAD
rs764629996 CA8759271	653	K>E		No	ClinGen ExAC gnomAD
CA400996698 rs1191043943	656	L>S		No	ClinGen gnomAD
CA400996694 rs1427164025	657	Q>*		No	ClinGen gnomAD
CA8759267 rs767573498	658	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8759266 rs759820278	659	P>L		No	ClinGen ExAC gnomAD
CA8759264 rs771131815	663	E>A		No	ClinGen ExAC gnomAD
CA8759263 rs763168592	663	E>D		No	ClinGen ExAC gnomAD
CA400996640 rs1313180722	666	P>S		No	ClinGen TOPMed gnomAD
CA400996624 rs1174591299	668	S>R		No	ClinGen TOPMed
CA400996611 rs1311888566	670	I>L		No	ClinGen TOPMed gnomAD
CA294020271 rs1051279391	672	P>L		No	ClinGen TOPMed gnomAD
CA400996582 rs1371848096	674	A>G		No	ClinGen gnomAD
CA400996573 rs1460950015	676	I>V		No	ClinGen gnomAD
rs1372960404 CA400996562	677	T>I		No	ClinGen gnomAD
rs1372960404 CA400996563	677	T>N		No	ClinGen gnomAD
rs1358915703 CA400996553	679	V>I		No	ClinGen TOPMed
CA400996526 rs1270952730	683	A>T		No	ClinGen TOPMed
rs149570351 CA8759254	684	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA400996498 rs1217492840	687	K>T		No	ClinGen TOPMed
rs1208187167 CA400996455	690	V>M		No	ClinGen gnomAD
CA294020130 rs199727414	691	R>L		No	ClinGen TOPMed gnomAD
CA294020128 rs199727414	691	R>Q		No	ClinGen TOPMed gnomAD
CA8759202 rs755471177	691	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758897094 CA8759200	693	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758897094 CA8759199	693	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8759201 rs747311168	693	R>W		No	ClinGen ExAC gnomAD
CA400996427 rs1598381769	694	Y>D		No	ClinGen Ensembl
CA400996423 rs1598381758	694	Y>F		No	ClinGen Ensembl
CA8759197 rs779049790	695	K>N		No	ClinGen ExAC gnomAD
rs757310609 CA8759196	697	T>A		No	ClinGen ExAC gnomAD
rs753891506 CA400996395	697	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753891506 CA8759195	697	T>N		No	ClinGen ExAC TOPMed gnomAD
rs753891506 CA400996396	697	T>S		No	ClinGen ExAC TOPMed gnomAD
rs759486547 CA8759193	699	A>T		No	ClinGen ExAC gnomAD
CA294020106 rs971261120	700	L>V		No	ClinGen Ensembl
CA400996363 rs1169188958	701	G>R		No	ClinGen gnomAD
CA400996334 rs1342138264	703	Q>H		No	ClinGen TOPMed
rs940121630 CA294020102	703	Q>R		No	ClinGen TOPMed
CA400996323 rs1417227370	705	S>G		No	ClinGen gnomAD
CA8759192 rs751559530	705	S>N		No	ClinGen ExAC gnomAD
rs766160727 CA8759191	706	T>R		No	ClinGen ExAC gnomAD
rs1259251219 CA400996303	707	E>Q		No	ClinGen gnomAD
CA8759190 rs762779187	709	G>A		No	ClinGen ExAC gnomAD
rs769356364 CA8759188	710	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1598381517 CA400996258	711	V>G		No	ClinGen Ensembl
CA8759187 rs761346990	712	D>G		No	ClinGen ExAC gnomAD
CA400996241 rs1232596664	713	Q>E		No	ClinGen TOPMed gnomAD
CA294020099 rs867220927	713	Q>P		No	ClinGen Ensembl
CA400996202 rs1271419946	716	P>S		No	ClinGen TOPMed gnomAD
rs747513423 CA8759185	718	E>*		No	ClinGen ExAC TOPMed gnomAD
CA400996180 rs747513423	718	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8759184 rs747513423	718	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs780745087 CA8759183	719	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA400996139 rs1413133480	720	W>*		No	ClinGen TOPMed gnomAD
CA400996136 rs1413133480	720	W>L		No	ClinGen TOPMed gnomAD
CA8759182 rs772540792	721	G>E		No	ClinGen ExAC gnomAD
CA294020098 rs1017467557	721	G>R		No	ClinGen gnomAD
CA400996124 rs1017467557	721	G>W		No	ClinGen gnomAD
rs142559174 CA8759180	722	N>K		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9NZ52

No regional properties for Q9NZ52

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NZ52

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Endosome membrane ; Peripheral membrane protein Early endosome membrane ; Peripheral membrane protein Recycling endosome membrane ; Peripheral membrane protein
PANTHER Family	PTHR45905	GOLGI-LOCALIZED, GAMMA-ADAPTIN EAR CONTAINING, ARF BINDING PROTEIN
PANTHER Subfamily	PTHR45905:SF3	ADP-RIBOSYLATION FACTOR-BINDING PROTEIN GGA3
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome membrane	The lipid bilayer surrounding an endosome.
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.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

4 GO annotations of molecular function

Name	Definition
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein-containing complex binding	Binding to a macromolecular complex.
small GTPase binding	Binding to a small monomeric GTPase.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

9 GO annotations of biological process

Name	Definition
endocytic recycling	The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
Golgi to plasma membrane protein transport	The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane.
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.
negative regulation of amyloid-beta formation	Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta formation.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
protein destabilization	Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
protein localization to cell surface	A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
protein targeting to lysosome	The process of directing proteins towards the lysosome using signals contained within the protein.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6ZVM7	TOM1L2	TOM1-like protein 2	Homo sapiens (Human)	SS
O75674	TOM1L1	TOM1-like protein 1	Homo sapiens (Human)	SS
Q9UJY4	GGA2	ADP-ribosylation factor-binding protein GGA2	Homo sapiens (Human)	SS
Q9UJY5	GGA1	ADP-ribosylation factor-binding protein GGA1	Homo sapiens (Human)	EV
O88746	Tom1	Target of Myb1 membrane trafficking protein	Mus musculus (Mouse)	PR
Q8BMI3	Gga3	ADP-ribosylation factor-binding protein GGA3	Mus musculus (Mouse)	SS
Q6P5E6	Gga2	ADP-ribosylation factor-binding protein GGA2	Mus musculus (Mouse)	SS
Q8R0H9	Gga1	ADP-ribosylation factor-binding protein GGA1	Mus musculus (Mouse)	SS
A0A0G2JV04	Gga3	ADP-ribosylation factor-binding protein GGA3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAEAEGESLE	SWLNKATNPS	NRQEDWEYII	GFCDQINKEL	EGPQIAVRLL	AHKIQSPQEW
70	80	90	100	110	120
EALQALTVLE	ACMKNCGRRF	HNEVGKFRFL	NELIKVVSPK	YLGDRVSEKV	KTKVIELLYS
130	140	150	160	170	180
WTMALPEEAK	IKDAYHMLKR	QGIVQSDPPI	PVDRTLIPSP	PPRPKNPVFD	DEEKSKLLAK
190	200	210	220	230	240
LLKSKNPDDL	QEANKLIKSM	VKEDEARIQK	VTKRLHTLEE	VNNNVRLLSE	MLLHYSQEDS
250	260	270	280	290	300
SDGDRELMKE	LFDQCENKRR	TLFKLASETE	DNDNSLGDIL	QASDNLSRVI	NSYKTIIEGQ
310	320	330	340	350	360
VINGEVATLT	LPDSEGNSQC	SNQGTLIDLA	ELDTTNSLSS	VLAPAPTPPS	SGIPILPPPP
370	380	390	400	410	420
QASGPPRSRS	SSQAEATLGP	SSTSNALSWL	DEELLCLGLA	DPAPNVPPKE	SAGNSQWHLL
430	440	450	460	470	480
QREQSDLDFF	SPRPGTAACG	ASDAPLLQPS	APSSSSSQAP	LPPPFPAPVV	PASVPAPSAG
490	500	510	520	530	540
SSLFSTGVAP	ALAPKVEPAV	PGHHGLALGN	SALHHLDALD	QLLEEAKVTS	GLVKPTTSPL
550	560	570	580	590	600
IPTTTPARPL	LPFSTGPGSP	LFQPLSFQSQ	GSPPKGPELS	LASIHVPLES	IKPSSALPVT
610	620	630	640	650	660
AYDKNGFRIL	FHFAKECPPG	RPDVLVVVVS	MLNTAPLPVK	SIVLQAAVPK	SMKVKLQPPS
670	680	690	700	710	720
GTELSPFSPI	QPPAAITQVM	LLANPLKEKV	RLRYKLTFAL	GEQLSTEVGE	VDQFPPVEQW

GNL