AiPD: Autoinhibited Protein Database

Q9ULH1

Gene name	ASAP1 (DDEF1, KIAA1249, PAG2)
Protein name	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1
Names	130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein, ADP-ribosylation factor-directed GTPase-activating protein 1, ARF GTPase-activating protein 1, Development and differentiation-enhancing factor 1, DEF-1, Differentiation-enhancing factor 1, PIP2-dependent ARF1 GAP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:50807
EC number
Protein Class	ASAP FAMILY MEMBER (PTHR45854)

Descriptions

ASAP1 is an Arf GTPase-activating protein (GAP) that functions on membrane surfaces to catalyze the hydrolysis of GTP bound to Arf. ASAP1 has a BAR domain which functions as membrane curvature sensors or as inducers of membrane curvature. The BAR domain influences GAP activity by binding to the PH domain and/or Arf GAP domain. The deletion of the entire BAR domain or the N-terminal extension increased GAP activity.

Autoinhibitory domains (AIDs)

Target domain	326-413 (PH domain); 439-562 (Arf GAP domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment

AID

1-324 (BAR domain)

Target domain

326-413 (PH domain); 439-562 (Arf GAP domain)

Relief mechanism

Partner binding (Binding of FIP3, Rab11- and Arf5/6-binding proteins to BAR domain)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Jian X et al. (2009) "Autoinhibition of Arf GTPase-activating protein activity by the BAR domain in ASAP1", The Journal of biological chemistry, 284, 1652-63

Autoinhibited structure

Activated structure

6 structures for Q9ULH1

Entry ID	Method	Resolution	Chain	Position	Source
2D1X	X-ray	190 A	P/Q	823-837	PDB
2DA0	NMR	-	A	323-423	PDB
2ED1	NMR	-	A	1067-1129	PDB
2RQT	NMR	-	A	1069-1129	PDB
2RQU	NMR	-	A	1069-1129	PDB
AF-Q9ULH1-F1	Predicted				AlphaFoldDB

608 variants for Q9ULH1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA372286753 rs1565285711	2	R>S		No	ClinGen Ensembl
rs767574175 CA4877570	7	R>K		No	ClinGen ExAC TOPMed gnomAD
rs757391464 CA4877569	8	L>I		No	ClinGen ExAC gnomAD
CA4877566 rs763102104	10	S>N		No	ClinGen ExAC TOPMed gnomAD
CA372286691 rs1565285676	12	S>L		No	ClinGen Ensembl
CA4877564 rs759521913	13	S>L		No	ClinGen ExAC TOPMed gnomAD
CA4877563 rs759521913	13	S>W		No	ClinGen ExAC TOPMed gnomAD
CA186062674 rs959912779	20	R>Q		No	ClinGen TOPMed gnomAD
CA372286642 rs1272837459	20	R>W		No	ClinGen gnomAD
rs776949238 CA4877519	21	M>V		No	ClinGen ExAC gnomAD
CA186057834 rs866134906	22	P>S		No	ClinGen Ensembl
CA372287011 rs1463399615	26	S>C		No	ClinGen TOPMed gnomAD
CA4877518 rs771249164	27	V>I		No	ClinGen ExAC gnomAD
CA372287002 rs1419206663	28	S>A		No	ClinGen gnomAD
CA186057833 rs776456979	28	S>L		No	ClinGen Ensembl
CA372286996 rs1302212846	29	E>V		No	ClinGen TOPMed
CA372286985 rs1276588252	30	F>L		No	ClinGen gnomAD
CA372286930 rs1333960419	38	Y>C		No	ClinGen TOPMed gnomAD
rs1333960419 CA372286929	38	Y>F		No	ClinGen TOPMed gnomAD
rs755220995 CA4877512	39	N>K		No	ClinGen ExAC TOPMed gnomAD
rs779167272 CA4877513	39	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779167272 CA372286923	39	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1422243232 CA372286909	41	P>L		No	ClinGen gnomAD
CA4877510 rs779984404	45	S>G		No	ClinGen ExAC gnomAD
CA372286882 rs1368643355	46	F>L		No	ClinGen gnomAD
CA4877507 rs375945770	51	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1029447394 CA372286842	52	N>I		No	ClinGen TOPMed gnomAD
CA372286841 rs751027766	52	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1029447394 CA186057832	52	N>S		No	ClinGen TOPMed gnomAD
CA4877504 rs763631682	53	C>R		No	ClinGen ExAC gnomAD
rs1215594831 CA372286835	53	C>Y		No	ClinGen gnomAD
rs142318272 CA4877502	55	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA372286813 rs1160952389	56	T>N		No	ClinGen TOPMed
CA372286812 rs1310675750	57	V>I		No	ClinGen gnomAD
rs1586901472 CA372286798	59	L>Q		No	ClinGen Ensembl
rs1382983007 CA372286151	63	A>G		No	ClinGen TOPMed
rs778526717 CA4877462	63	A>T		No	ClinGen ExAC gnomAD
CA4877461 rs754567071	66	Q>E		No	ClinGen ExAC gnomAD
CA372286089 rs1180851532	72	Q>H		No	ClinGen gnomAD
CA372286078 rs1440876844	74	V>M		No	ClinGen gnomAD
CA372286070 rs1330222038	75	K>R		No	ClinGen gnomAD
rs767771941 CA4877459	77	S>C		No	ClinGen ExAC gnomAD
CA4877458 rs762204522	80	A>E		No	ClinGen ExAC gnomAD
rs1177478376 CA372286036	80	A>S		No	ClinGen TOPMed gnomAD
rs1177478376 CA372286038	80	A>T		No	ClinGen TOPMed gnomAD
CA372286029 rs1221806012	81	I>T		No	ClinGen gnomAD
CA372286032 rs1266908101	81	I>V		No	ClinGen gnomAD
rs1313837355 CA372285968	87	D>V		No	ClinGen gnomAD
CA4877441 rs377029718	89	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147667256 CA4877440	93	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs918444625 CA186040900	94	N>S		No	ClinGen TOPMed
rs1300259336 CA372285907	95	Y>*		No	ClinGen gnomAD
CA186040899 rs972572690	95	Y>C		No	ClinGen gnomAD
rs1286032953 CA372285906	96	A>S		No	ClinGen TOPMed
CA372285869 rs1360252047	101	K>R		No	ClinGen gnomAD
rs1053389952 CA186040898	102	F>L		No	ClinGen TOPMed gnomAD
rs372166121 CA4877437	104	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489168922 CA372285844	105	N>H		No	ClinGen TOPMed
CA372285839 rs1426850493	105	N>K		No	ClinGen gnomAD
rs764589315 CA4877436	105	N>S		No	ClinGen ExAC gnomAD
CA372285812 rs1176314887	109	R>Q		No	ClinGen TOPMed
rs758948660 CA4877435	110	D>G		No	ClinGen ExAC TOPMed gnomAD
CA372285801 rs1281885288	111	N>D		No	ClinGen gnomAD
rs201186844 CA4877433	113	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA186040897 rs761895160	116	T>A		No	ClinGen Ensembl
CA186040896 rs762983831	117	A>V		No	ClinGen gnomAD
CA186040895 rs933180910	120	K>*		No	ClinGen TOPMed gnomAD
rs199603852 CA4877429	123	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs11557146 CA372285719	124	L>I		No	ClinGen TOPMed gnomAD
rs1321503794 CA372285708	126	K>E		No	ClinGen gnomAD
rs772969745 CA4877428	126	K>R		No	ClinGen ExAC gnomAD
CA186040893 rs561465853	127	E>G		No	ClinGen Ensembl
CA4877427 rs771915000	129	S>C		No	ClinGen ExAC gnomAD
CA4877425 rs151281725	134	N>Y		No	ClinGen ESP ExAC TOPMed
rs769483764 CA4877399	136	L>H		No	ClinGen ExAC gnomAD
rs992235396 CA185380722	140	S>N		No	ClinGen TOPMed
rs1258938375 CA372197826	141	H>R		No	ClinGen gnomAD
CA4877397 rs780923099	142	N>S		No	ClinGen ExAC gnomAD
rs755488920 CA4877393	148	D>N		No	ClinGen ExAC gnomAD
rs754400831 CA4877392	149	S>A		No	ClinGen ExAC gnomAD
CA372197659 rs1288501710	156	K>R		No	ClinGen TOPMed
rs750517158 CA4877389	159	K>Q		No	ClinGen ExAC gnomAD
CA372197612 rs1241869709	160	G>E		No	ClinGen TOPMed
rs768970177 CA4877375	163	K>R		No	ClinGen ExAC gnomAD
CA372197499 rs1233137874	166	F>L		No	ClinGen gnomAD
rs1321190742 CA372197478	167	D>E		No	ClinGen TOPMed
rs780484851 CA4877373	173	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA372197388 rs1298527632	175	T>A		No	ClinGen TOPMed gnomAD
CA372197387 rs1298527632	175	T>S		No	ClinGen TOPMed gnomAD
CA372196877 rs1165610849	179	K>R		No	ClinGen gnomAD
CA372196847 rs1182597596	183	E>A		No	ClinGen TOPMed
rs777797772 CA4877340	188	A>T		No	ClinGen ExAC gnomAD
CA4877339 rs758714592	189	K>R		No	ClinGen ExAC gnomAD
rs960186277 CA185374677	195	R>C		No	ClinGen TOPMed gnomAD
rs1258283252 CA372196732	198	I>V		No	ClinGen gnomAD
rs1035928006 CA185374663	201	A>D		No	ClinGen TOPMed
CA372196676 rs1359570027	203	I>T		No	ClinGen gnomAD
rs867254049 CA185374655	205	E>*		No	ClinGen Ensembl
CA372196565 rs1334794467	212	R>C		No	ClinGen TOPMed gnomAD
rs200268356 CA185374632	212	R>H		No	ClinGen TOPMed gnomAD
rs1243000261 CA372196506	217	Q>H		No	ClinGen gnomAD
rs748429268 CA4877319	223	I>L		No	ClinGen ExAC gnomAD
rs1586529744 CA372196117	225	V>I		No	ClinGen Ensembl
rs367897590 CA4877317	231	K>E		No	ClinGen ESP ExAC gnomAD
CA4877316 rs753681718	231	K>R		No	ClinGen ExAC gnomAD
CA372196048 rs1441057177	233	G>C		No	ClinGen gnomAD
CA372195992 rs1586529655	241	I>T		No	ClinGen Ensembl
rs1176086489 CA372195978	243	Y>C		No	ClinGen gnomAD
CA372195961 rs1287008959	245	H>R		No	ClinGen TOPMed
CA4877312 rs767067221	246	A>T		No	ClinGen ExAC gnomAD
rs1287629565 CA372194829	249	N>K		No	ClinGen gnomAD
CA372194809 rs1360367638	252	Q>*		No	ClinGen gnomAD
CA372194800 rs772718510	253	D>G		No	ClinGen ExAC TOPMed gnomAD
rs772718510 CA4877277	253	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1340920748 CA372194785	255	L>F		No	ClinGen TOPMed
rs921543771 CA185363770	256	K>E		No	ClinGen TOPMed gnomAD
CA4877276 rs761934616	260	K>E		No	ClinGen ExAC
rs113163415 CA4877275	263	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372194718 rs1586499906	265	I>V		No	ClinGen Ensembl
CA372194661 rs1260998937	273	Y>C		No	ClinGen gnomAD
rs1260998937 CA372194660	273	Y>F		No	ClinGen gnomAD
CA4877272 rs779697078	273	Y>H		No	ClinGen ExAC gnomAD
CA372194632 rs1247364959	275	I>M		No	ClinGen gnomAD
CA185362660 rs1020701662	275	I>T		No	ClinGen TOPMed
CA185362627 rs1017160605	277	Q>H		No	ClinGen TOPMed gnomAD
CA4877252 rs775719438	277	Q>K		No	ClinGen ExAC gnomAD
rs376672210 CA185362621	278	T>N		No	ClinGen Ensembl
rs1451326552 CA372194601	280	D>A		No	ClinGen gnomAD
rs1474035151 CA372194543	284	K>N		No	ClinGen TOPMed
CA4877249 rs776444605	285	Q>P		No	ClinGen ExAC gnomAD
CA372194529 rs1586496053	286	L>V		No	ClinGen Ensembl
CA372194516 rs1391642646	287	T>S		No	ClinGen gnomAD
CA185362577 rs901685611	288	A>S		No	ClinGen TOPMed
rs777134205 CA4877246	290	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA185362558 rs906016644	293	I>V		No	ClinGen Ensembl
rs1426304931 CA372194433	295	S>Y		No	ClinGen gnomAD
rs1371848423 CA372194399	298	Q>H		No	ClinGen TOPMed
CA185362554 rs139502759	298	Q>P		No	ClinGen ESP TOPMed
CA372194392 rs1461881316	299	L>Q		No	ClinGen TOPMed
CA372194362 rs1385863686	301	Q>H		No	ClinGen gnomAD
rs1565032828 CA372194021	306	Q>H		No	ClinGen Ensembl
CA4877208 rs772014163	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1405718044 CA372194010	308	R>W		No	ClinGen gnomAD
CA4877207 rs761703345	309	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs768345726 CA4877205	316	Q>P		No	ClinGen ExAC gnomAD
rs1245449971 CA372193868	320	N>K		No	ClinGen gnomAD
rs1586475614 CA372193752	330	Y>D		No	ClinGen Ensembl
CA4877201 rs747363071	336	D>E		No	ClinGen ExAC TOPMed gnomAD
CA185353026 rs113796470	339	R>W		No	ClinGen Ensembl
CA372193453 rs1417771389	343	Q>R		No	ClinGen TOPMed
rs772385928 CA4877181	346	K>M		No	ClinGen ExAC gnomAD
CA372193404 rs1364185797	350	K>R		No	ClinGen gnomAD
CA372193405 rs1364185797	350	K>T		No	ClinGen gnomAD
CA185353020 rs951399442	355	T>I		No	ClinGen Ensembl
CA372193361 rs1420345188	357	S>P		No	ClinGen gnomAD
rs755509561 CA4877178	360	T>I		No	ClinGen ExAC gnomAD
rs371240376 CA4877161	363	R>S		No	ClinGen ESP ExAC TOPMed
rs774737266 CA4877159	377	P>R		No	ClinGen ExAC gnomAD
CA372191739 rs1565003159	380	E>A		No	ClinGen Ensembl
CA4877155 rs756078827	381	D>H		No	ClinGen ExAC gnomAD
rs1226149950 CA372191700	383	K>T		No	ClinGen TOPMed
CA4877152 rs757534536	387	L>V		No	ClinGen ExAC gnomAD
rs1565003065 CA372191631	388	I>M		No	ClinGen Ensembl
CA4877150 rs764031649	388	I>V		No	ClinGen ExAC gnomAD
CA372191625 rs1207057515	389	S>*		No	ClinGen TOPMed
rs1166615043 CA372191600	390	H>R		No	ClinGen TOPMed gnomAD
CA4877148 rs560247959	390	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA372191577 rs1446319608	393	T>I		No	ClinGen gnomAD
CA372191531 rs1252915957	399	E>D		No	ClinGen gnomAD
rs778667413 CA4877127	401	E>D		No	ClinGen ExAC gnomAD
rs754975803 CA4877126	403	D>A		No	ClinGen ExAC gnomAD
rs753264322 CA4877125	406	A>V		No	ClinGen ExAC gnomAD
CA372190726 rs1410010835	408	I>L		No	ClinGen gnomAD
CA4877092 rs752986024	410	V>I		No	ClinGen ExAC gnomAD
CA4877091 rs765695293	414	S>N		No	ClinGen ExAC gnomAD
rs777132897 CA372190657	418	A>S		No	ClinGen ExAC gnomAD
rs777132897 CA4877089	418	A>T		No	ClinGen ExAC gnomAD
rs903511873 CA185342584	420	T>S		No	ClinGen TOPMed gnomAD
CA185342576 rs770066449	421	M>V		No	ClinGen gnomAD
CA372190635 rs1225296003	422	A>T		No	ClinGen TOPMed
CA4877088 rs565525997	424	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760787804 CA4877087	424	R>H		No	ClinGen ExAC gnomAD
rs565525997 CA185342565	424	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773459218 CA4877086	425	G>*		No	ClinGen ExAC gnomAD
rs772393832 CA4877085	425	G>V		No	ClinGen ExAC gnomAD
rs1209482070 CA372190608	426	E>D		No	ClinGen TOPMed
rs748458373 CA4877084	428	S>N		No	ClinGen ExAC gnomAD
rs540789616 CA4877082	429	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4877081 rs200661367	429	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372190583 rs1209814333	430	G>E		No	ClinGen TOPMed
rs1564991555 CA372190567	432	N>K		No	ClinGen Ensembl
rs1205732628 CA372190520	439	K>R		No	ClinGen Ensembl
rs370035434 CA185342512	440	A>T		No	ClinGen ESP
rs745348643 CA4877078	442	I>T		No	ClinGen ExAC gnomAD
CA372190499 rs1476683486	443	E>K		No	ClinGen gnomAD
CA4877077 rs780732572	444	D>N		No	ClinGen ExAC gnomAD
rs371127154 CA185342504	445	V>I		No	ClinGen Ensembl
rs756893087 CA4877076	446	Q>R		No	ClinGen ExAC gnomAD
CA4877075 rs751296461	447	R>Q		No	ClinGen ExAC gnomAD
CA185342491 rs146996661	452	D>G		No	ClinGen ESP
CA372190429 rs1391466093	453	I>M		No	ClinGen TOPMed gnomAD
CA185342472 rs375896300	458	G>D		No	ClinGen TOPMed gnomAD
CA372190387 rs1341465346	459	S>T		No	ClinGen gnomAD
rs774322256 CA4877048	465	L>I		No	ClinGen ExAC gnomAD
rs764344409 CA4877047	467	T>I		No	ClinGen ExAC TOPMed gnomAD
CA372189982 rs1405408582	468	N>I		No	ClinGen gnomAD
rs1179778494 CA372189946	474	C>G		No	ClinGen gnomAD
rs1470935725 CA372189936	475	I>L		No	ClinGen gnomAD
rs1293852576 CA372189879	483	E>K		No	ClinGen gnomAD
CA4877044 rs769646695	487	H>R		No	ClinGen ExAC gnomAD
rs775254717 CA4877045	487	H>Y		No	ClinGen ExAC gnomAD
CA372189762 rs1288179564	500	G>R		No	ClinGen gnomAD
rs147030527 CA4877023	509	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4877021 rs760579804	513	N>S		No	ClinGen ExAC TOPMed gnomAD
CA372198681 rs1486903720	514	S>N		No	ClinGen Ensembl
rs1314279798 CA372198649	518	I>T		No	ClinGen TOPMed
CA4877020 rs772767765	518	I>V		No	ClinGen ExAC gnomAD
rs1211305056 CA372198646	519	M>V		No	ClinGen TOPMed
CA4877019 rs771415084	521	A>T		No	ClinGen ExAC
CA372198611 rs1592855057	523	L>F		No	ClinGen Ensembl
rs1255875160 CA372198609	524	P>A		No	ClinGen TOPMed
CA185387648 rs867032482	525	S>I		No	ClinGen Ensembl
CA372198598 rs747672872	525	S>R		No	ClinGen ExAC TOPMed gnomAD
rs778660196 CA4877017	526	P>H		No	ClinGen ExAC gnomAD
rs1181141299 CA372198589	527	S>A		No	ClinGen TOPMed
CA185387597 rs775048007	530	P>L		No	ClinGen Ensembl
rs199759148 CA185387594	535	D>N		No	ClinGen gnomAD
rs1341993862 CA372198506	538	V>I		No	ClinGen TOPMed gnomAD
CA4877000 rs761366499	539	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4876998 rs768396932	545	A>S		No	ClinGen ExAC gnomAD
rs777046975 CA4876996	548	V>I		No	ClinGen ExAC gnomAD
rs1564980467 CA372198430	549	D>G		No	ClinGen Ensembl
CA372198423 rs1338212196	550	H>R		No	ClinGen TOPMed
CA185383653 rs868511021	550	H>Y		No	ClinGen Ensembl
rs1376737827 CA372198417	551	R>K		No	ClinGen gnomAD
rs778097102 CA4876993	559	T>A		No	ClinGen ExAC gnomAD
rs778097102 CA4876994	559	T>P		No	ClinGen ExAC gnomAD
rs1156674665 CA372198340	563	K>E		No	ClinGen gnomAD
CA372198297 rs1212831384	569	E>K		No	ClinGen TOPMed
CA372198288 rs1253112075	570	A>D		No	ClinGen gnomAD
CA372198291 rs1422246128	570	A>T		No	ClinGen gnomAD
rs560369187 CA4876988	571	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4876987 rs766635012	571	I>M		No	ClinGen ExAC gnomAD
rs145743273 CA4876986	572	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145743273 CA372198277	572	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4876985 rs750262894	574	R>K		No	ClinGen ExAC gnomAD
CA4876984 rs767529919	577	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4876983 rs761887521	578	A>E		No	ClinGen ExAC gnomAD
CA4876981 rs150221582	581	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762560141 CA4876980	583	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372198208 rs762560141	583	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA185383510 rs1041004652	585	E>A		No	ClinGen gnomAD
CA4876978 rs769513186	586	G>R		No	ClinGen ExAC gnomAD
CA372198187 rs1418844595	586	G>V		No	ClinGen TOPMed
CA4876976 rs773666790	587	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772547536 CA4876975	589	L>P		No	ClinGen ExAC gnomAD
CA372198168 rs1472453846	590	M>V		No	ClinGen TOPMed gnomAD
CA185383447 rs1053498516	592	P>S		No	ClinGen TOPMed
CA4876974 rs748714051	593	L>Q		No	ClinGen ExAC gnomAD
CA372198126 rs1452621577	596	P>H		No	ClinGen gnomAD
CA185383440 rs944068676	596	P>S		No	ClinGen TOPMed
CA372198116 rs1208710964	598	Q>P		No	ClinGen gnomAD
rs367773783 CA4876953	599	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA185383246 rs920205348	603	T>I		No	ClinGen TOPMed
CA372198059 rs1236687965	605	L>F		No	ClinGen TOPMed
CA4876951 rs780230220	607	L>V		No	ClinGen ExAC gnomAD
rs1336629489 CA372198039	608	A>G		No	ClinGen gnomAD
CA4876949 rs141017948	609	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876948 rs201240224	610	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs556145379 CA4876946	610	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372198020 rs1592842409	612	A>S		No	ClinGen Ensembl
rs1391489176 CA372198015	613	D>N		No	ClinGen gnomAD
CA372198002 rs1448563156	614	Q>H		No	ClinGen gnomAD
CA372198004 rs1431989680	614	Q>R		No	ClinGen TOPMed
CA372197999 rs1564979639	615	T>P		No	ClinGen Ensembl
CA185383197 rs866539473	617	L>I		No	ClinGen gnomAD
CA372197979 rs1212027477	618	H>R		No	ClinGen gnomAD
rs151088808 CA4876944	620	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752125848 CA4876943	623	L>I		No	ClinGen ExAC gnomAD
rs752125848 CA372197946	623	L>V		No	ClinGen ExAC gnomAD
rs1275514361 CA372197942	624	V>I		No	ClinGen gnomAD
CA372197918 rs1363336879	627	C>G		No	ClinGen gnomAD
CA185382064 rs144442258	628	G>E		No	ClinGen ESP
rs754454440 CA4876917	632	K>E		No	ClinGen ExAC TOPMed gnomAD
CA372197812 rs1451321870	633	Q>E		No	ClinGen gnomAD
CA372197799 rs1271477726	633	Q>H		No	ClinGen gnomAD
rs1421137643 CA372197807	633	Q>P		No	ClinGen TOPMed
rs1230682748 CA372197787	634	T>M		No	ClinGen gnomAD
rs765983151 CA4876915	638	N>S		No	ClinGen ExAC gnomAD
CA372197614 rs1227101732	645	S>G		No	ClinGen gnomAD
rs760369363 CA4876914	646	M>I		No	ClinGen ExAC TOPMed gnomAD
CA372197594 rs1349199862	646	M>T		No	ClinGen TOPMed
CA372197589 rs1164183744	647	Y>H		No	ClinGen TOPMed gnomAD
rs764581974 CA4876912	649	K>E		No	ClinGen ExAC gnomAD
rs373154942 CA4876911	650	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876910 rs776005471	652	C>S		No	ClinGen ExAC gnomAD
rs774561724 CA185381973	654	K>Q		No	ClinGen Ensembl
rs1158071266 CA372197473	655	L>V		No	ClinGen TOPMed gnomAD
CA4876908 rs759652406	659	S>G		No	ClinGen ExAC gnomAD
CA372197392 rs1229216117	659	S>R		No	ClinGen TOPMed
rs776895112 CA4876907	660	K>R		No	ClinGen ExAC gnomAD
CA185381970 rs999972533	661	P>T		No	ClinGen gnomAD
CA372197338 rs1210861620	664	D>Y		No	ClinGen gnomAD
CA372197328 rs1320390223	665	I>T		No	ClinGen TOPMed
CA372197331 rs1267954200	665	I>V		No	ClinGen TOPMed gnomAD
rs973174269 CA185381651	670	G>E		No	ClinGen gnomAD
rs369180178 CA4876885	670	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372197262 rs1365555616	673	A>V		No	ClinGen gnomAD
rs370251675 CA4876883	675	D>Y		No	ClinGen ESP ExAC gnomAD
CA372197244 rs1229021252	676	I>M		No	ClinGen TOPMed gnomAD
rs747941134 CA4876882	676	I>T		No	ClinGen ExAC TOPMed gnomAD
CA372197240 rs1427387153	677	A>G		No	ClinGen TOPMed
CA4876881 rs371018530	677	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA372197237 rs1465530043	678	K>E		No	ClinGen TOPMed gnomAD
rs1373525186 CA372197224	679	R>S		No	ClinGen gnomAD
rs146886116 CA4876879	683	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389573191 CA372197193	684	Q>H		No	ClinGen TOPMed gnomAD
CA185381612 rs983262459	684	Q>R		No	ClinGen TOPMed
rs779971372 CA4876878	686	E>K		No	ClinGen ExAC gnomAD
rs1425741207 CA372197177	687	D>Y		No	ClinGen gnomAD
CA185381591 rs867988648	688	L>M		No	ClinGen gnomAD
CA372197169 rs867988648	688	L>V		No	ClinGen gnomAD
CA4876857 rs769752565	693	K>N		No	ClinGen ExAC gnomAD
CA372197094 rs372633636	697	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780617161 CA4876855	698	N>S		No	ClinGen ExAC gnomAD
rs1054171368 CA185380452	701	V>D		No	ClinGen TOPMed gnomAD
rs1054171368 CA372197068	701	V>G		No	ClinGen TOPMed gnomAD
rs762344589 CA4876852	701	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754279639 CA4876850	703	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4876849 rs780669563	705	Y>C		No	ClinGen ExAC gnomAD
rs191199415 CA372197022	708	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191199415 CA4876847	708	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866038991 CA185380398	710	R>*		No	ClinGen Ensembl
CA372197007 rs1212719499	710	R>Q		No	ClinGen gnomAD
CA372196990 rs1466823480	712	E>D		No	ClinGen TOPMed gnomAD
CA372196991 rs1466823480	712	E>D		No	ClinGen TOPMed gnomAD
rs1269840205 CA372196988	713	E>Q		No	ClinGen gnomAD
rs761952356 CA4876845	714	I>R		No	ClinGen ExAC TOPMed gnomAD
rs761952356 CA4876846	714	I>T		No	ClinGen ExAC TOPMed gnomAD
CA372196972 rs1277686215	715	D>G		No	ClinGen gnomAD
CA372196952 rs1213552751	718	D>N		No	ClinGen TOPMed gnomAD
rs762695098 CA4876842	721	L>P		No	ClinGen ExAC gnomAD
CA372196927 rs1331757574	721	L>V		No	ClinGen gnomAD
CA185380352 rs924154221	723	D>G		No	ClinGen TOPMed gnomAD
rs772892011 CA4876816	726	S>N		No	ClinGen ExAC gnomAD
rs747872771 CA4876814	728	I>M		No	ClinGen ExAC gnomAD
VAR_055528 CA4876815 rs966185	728	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4876812 rs181327053	731	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372195873 rs1344416817	731	E>G		No	ClinGen gnomAD
CA185376898 rs1020022002	732	R>C		No	ClinGen TOPMed gnomAD
CA4876811 rs746266855	732	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781511156 CA4876810	733	S>A		No	ClinGen ExAC gnomAD
CA4876808 rs779404330	734	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4876809 rs757822502	734	P>S		No	ClinGen ExAC TOPMed gnomAD
CA372195852 rs1592828432	735	R>S		No	ClinGen Ensembl
CA4876806 rs370432005	741	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409054961 CA372195802	742	S>Y		No	ClinGen gnomAD
rs765514594 CA4876804	744	S>N		No	ClinGen ExAC gnomAD
CA372195780 rs1474893094	745	I>M		No	ClinGen TOPMed
rs1164845180 CA372195785	745	I>V		No	ClinGen gnomAD
rs539450703 CA185376862	746	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4876803 rs539450703	746	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372195778 rs1592828333	746	S>P		No	ClinGen Ensembl
CA4876802 rs753701834	747	P>L		No	ClinGen ExAC gnomAD
CA372195770 rs1394159955	748	Q>E		No	ClinGen TOPMed gnomAD
rs766198466 CA4876801	750	K>R		No	ClinGen ExAC TOPMed gnomAD
rs377058881 CA4876799	752	A>G		No	ClinGen ESP ExAC gnomAD
CA4876800 rs760720696	752	A>T		No	ClinGen ExAC gnomAD
CA372195740 rs377058881	752	A>V		No	ClinGen ESP ExAC gnomAD
rs1436357897 CA372195720	756	F>L		No	ClinGen gnomAD
rs1229046600 CA372195691	760	R>K		No	ClinGen gnomAD
rs957793235 CA185376824	761	D>E		No	ClinGen Ensembl
rs375905460 CA185376822	762	K>E		No	ClinGen ESP
CA4876795 rs774096816	764	R>Q		No	ClinGen ExAC gnomAD
rs1033239417 CA185376802	764	R>W		No	ClinGen TOPMed gnomAD
CA372195651 rs1259151906	766	S>C		No	ClinGen Ensembl
CA4876794 rs768385112	767	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372195645 rs768385112	767	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs113019049 CA185376793	768	G>R		No	ClinGen Ensembl
rs746186185 CA4876793	769	A>V		No	ClinGen ExAC gnomAD
CA185376790 rs149904556	773	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876791 rs771330943	774	I>L		No	ClinGen ExAC gnomAD
CA4876789 rs778257995	776	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4876788 rs547557471	777	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1331844241 CA372195578	778	T>A		No	ClinGen TOPMed
CA185376741 rs1008935112	780	T>I		No	ClinGen TOPMed gnomAD
rs1176748094 CA372195552	781	D>V		No	ClinGen gnomAD
CA4876787 rs748252412	782	S>L		No	ClinGen ExAC gnomAD
CA372195545 rs1445964414	782	S>T		No	ClinGen TOPMed
CA372195521 rs1313791492	783	P>L		No	ClinGen gnomAD
CA4876784 rs753556733	784	T>P		No	ClinGen ExAC gnomAD
rs543968964 CA185376713	785	S>A		No	ClinGen Ensembl
CA4876782 rs139116417	785	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA185376678 rs944310937	788	T>A		No	ClinGen TOPMed gnomAD
CA4876780 rs147401049	788	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1276061625 CA372195450	790	A>P		No	ClinGen gnomAD
rs931722772 CA372195427	792	P>A		No	ClinGen TOPMed gnomAD
rs761366439 CA4876778	792	P>L		No	ClinGen ExAC gnomAD
rs761366439 CA372195423	792	P>R		No	ClinGen ExAC gnomAD
rs931722772 CA185376656	792	P>S		No	ClinGen TOPMed gnomAD
rs138407410 CA4876777	795	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1323724630 CA372195361	797	N>S		No	ClinGen gnomAD
rs371168308 CA4876776	798	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876774 rs561871631	799	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs761041919 CA4876772	800	K>R		No	ClinGen ExAC gnomAD
rs1170755279 CA372193006	803	T>A		No	ClinGen gnomAD
CA185357029 rs751627419	804	G>R		No	ClinGen TOPMed gnomAD
CA372192985 rs1177340523	806	P>L		No	ClinGen gnomAD
rs760991117 CA4876754	808	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1258815061 CA372192974	808	T>I		No	ClinGen gnomAD
rs773610272 CA4876753	810	P>L		No	ClinGen ExAC gnomAD
rs773610272 CA372192964	810	P>R		No	ClinGen ExAC gnomAD
rs748924496 CA185357012	814	Q>*		No	ClinGen gnomAD
rs748924496 CA372192942	814	Q>E		No	ClinGen gnomAD
rs868858953 CA185357011	815	T>I		No	ClinGen Ensembl
rs772547829 CA4876752	818	G>S		No	ClinGen ExAC gnomAD
rs762367328 CA4876751	819	S>R		No	ClinGen ExAC gnomAD
CA4876749 rs768720555	821	T>I		No	ClinGen ExAC gnomAD
CA4876750 rs774721997	821	T>P		No	ClinGen ExAC gnomAD
CA4876748 rs749345222	822	L>P		No	ClinGen ExAC gnomAD
CA372192894 rs1216222675	822	L>V		No	ClinGen Ensembl
CA372192883 rs1431262258	824	K>Q		No	ClinGen TOPMed
rs1564948928 CA372192866	826	R>T		No	ClinGen Ensembl
rs775737819 CA4876747	828	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745635876 CA4876745	830	P>R		No	ClinGen ExAC gnomAD
CA372192843 rs1462726815	830	P>S		No	ClinGen gnomAD
rs1592779414 CA372192839	831	P>A		No	ClinGen Ensembl
CA372192827 rs1425941577	833	G>R		No	ClinGen gnomAD
rs1348308812 CA372192796	837	T>N		No	ClinGen Ensembl
CA4876740 rs757876135	840	D>N		No	ClinGen ExAC gnomAD
CA372192762 rs1480790987	843	S>G		No	ClinGen gnomAD
rs1483448514 CA372192741	846	P>L		No	ClinGen TOPMed gnomAD
rs752180808 CA4876739	847	H>L		No	ClinGen ExAC gnomAD
CA4876737 rs754676986	850	P>L		No	ClinGen ExAC gnomAD
CA372192692 rs201422861	854	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372192691 rs201422861	854	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201422861 CA4876736	854	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372192686 rs1232657515	855	V>L		No	ClinGen TOPMed gnomAD
CA185356901 rs933075970	856	P>L		No	ClinGen TOPMed
CA4876735 rs767799253	856	P>S		No	ClinGen ExAC gnomAD
CA372192676 rs1309329560	857	W>R		No	ClinGen gnomAD
CA185350127 rs370789875	859	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs765339752 CA4876710	860	D>N		No	ClinGen ExAC TOPMed gnomAD
CA185350116 rs765339752	860	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs776946460 CA372191025	861	G>A		No	ClinGen ExAC TOPMed gnomAD
rs776946460 CA4876708	861	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4876705 rs772933905	863	P>L		No	ClinGen ExAC gnomAD
rs760488638 CA4876706	863	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4876704 rs772036962	865	S>F		No	ClinGen ExAC gnomAD
CA372190961 rs1164835067	867	S>G		No	ClinGen TOPMed
CA372190934 rs1328589506	868	K>N		No	ClinGen gnomAD
CA372190917 rs1422348123	870	T>A		No	ClinGen TOPMed
CA4876703 rs748103594	872	K>N		No	ClinGen ExAC gnomAD
rs1383437544 CA372190858	873	F>L		No	ClinGen TOPMed gnomAD
rs748822682 CA4876700	879	Q>P		No	ClinGen ExAC
CA372190271 rs1256954152	883	S>R		No	ClinGen gnomAD
rs1208815827 CA372190263	883	S>T		No	ClinGen TOPMed gnomAD
rs1195377306 CA372190197	888	A>S		No	ClinGen gnomAD
CA185348371 rs374657898	888	A>V		No	ClinGen ESP TOPMed gnomAD
CA372190157 rs1381742462	891	P>R		No	ClinGen TOPMed
rs1564931868 CA372190052	900	K>E		No	ClinGen Ensembl
rs1592746144 CA372190049	900	K>R		No	ClinGen Ensembl
CA372190045 rs1592746138	901	V>M		No	ClinGen Ensembl
rs767808130 CA4876670	902	A>T		No	ClinGen ExAC
CA372188634 rs774177834	908	H>P		No	ClinGen ExAC gnomAD
rs774177834 CA4876668	908	H>R		No	ClinGen ExAC gnomAD
rs1180996004 CA372188640	908	H>Y		No	ClinGen TOPMed
CA4876667 rs373062629	910	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs762942975 CA4876666	916	I>V		No	ClinGen ExAC gnomAD
rs745406996 CA4876663	917	P>L		No	ClinGen ExAC TOPMed gnomAD
rs140559309 CA4876664	917	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4876660 rs748502745	918	P>L		No	ClinGen ExAC gnomAD
CA372188483 rs1255108102	919	E>G		No	ClinGen gnomAD
CA185341149 rs768671699	919	E>K		No	ClinGen gnomAD
rs1592712783 CA372188356	927	L>W		No	ClinGen Ensembl
CA372188350 rs578121499	928	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4876656 rs578121499	928	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4876655 rs553616348	931	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1218580575 CA372188283	932	Q>L		No	ClinGen gnomAD
rs1294458588 CA372188276	933	K>E		No	ClinGen TOPMed gnomAD
CA372188272 rs1592712732	933	K>T		No	ClinGen Ensembl
rs1307172005 CA372188245	935	P>R		No	ClinGen TOPMed
CA4876654 rs750552166	937	G>A		No	ClinGen ExAC gnomAD
rs1381991408 CA372188121	945	E>K		No	ClinGen gnomAD
rs757530775 CA4876652	947	A>T		No	ClinGen ExAC gnomAD
CA185341136 rs926280708	947	A>V		No	ClinGen TOPMed gnomAD
rs762750291 CA372188088	949	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4876649 rs762750291	949	K>N		No	ClinGen ExAC TOPMed gnomAD
rs751349147 CA4876651	949	K>R		No	ClinGen ExAC
rs765251399 CA4876647	952	I>V		No	ClinGen ExAC gnomAD
rs200682369 CA4876646	954	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4876645 rs776255255	955	L>W		No	ClinGen ExAC gnomAD
CA4876644 rs200764058	956	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372187953 rs1417952184	959	P>A		No	ClinGen gnomAD
CA4876640 rs556009108	959	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs780390053 CA4876639	961	E>V		No	ClinGen ExAC TOPMed gnomAD
rs745919113 CA4876637	963	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756690941 CA4876638 COSM604168	963	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4876635 rs757332068	964	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1564914480 CA372187886	964	P>L		No	ClinGen Ensembl
rs751723274 CA4876634	967	Q>H		No	ClinGen ExAC gnomAD
CA372187840 rs1592712459	968	L>M		No	ClinGen Ensembl
CA372187833 rs1465009327	968	L>P		No	ClinGen TOPMed
CA372187820 rs1329445527	969	G>A		No	ClinGen TOPMed
rs1592712413 CA372187808	970	D>A		No	ClinGen Ensembl
CA372187810 rs1487042793	970	D>Y		No	ClinGen gnomAD
rs878889766 CA185341106	972	P>Q		No	ClinGen Ensembl
CA4876629 rs759577453	973	P>R		No	ClinGen ExAC TOPMed gnomAD
CA372187746 rs765064792	973	P>S		No	ClinGen ExAC gnomAD
CA4876630 rs765064792	973	P>T		No	ClinGen ExAC gnomAD
rs753286556 CA4876628	975	P>R		No	ClinGen ExAC
rs878960677 CA185341099	975	P>T		No	ClinGen Ensembl
CA185341095 rs201380090	978	S>L		No	ClinGen 1000Genomes
CA4876627 rs765923132	980	L>V		No	ClinGen ExAC gnomAD
CA4876626 rs760278832	982	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4876624 rs771887908	986	M>I		No	ClinGen ExAC TOPMed gnomAD
CA185341090 rs749350012	986	M>L		No	ClinGen ExAC TOPMed
CA4876625 rs749350012	986	M>V		No	ClinGen ExAC TOPMed
CA372187439 rs1398027388	987	K>E		No	ClinGen gnomAD
CA4876622 rs775979019	988	D>G		No	ClinGen ExAC gnomAD
rs763201843 CA4876623	988	D>N		No	ClinGen ExAC gnomAD
CA4876621 rs143261202	990	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs143261202 CA372187365	990	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876618 rs770948515	991	P>R		No	ClinGen ExAC gnomAD
rs149161756 CA4876619	991	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876616 rs777941033	992	K>R		No	ClinGen ExAC
rs1476462678 CA372187245	994	Q>H		No	ClinGen gnomAD
rs191674894 CA372187239	995	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754736965 CA4876613	997	D>E		No	ClinGen ExAC gnomAD
CA4876612 rs754736965	997	D>E		No	ClinGen ExAC gnomAD
CA4876610 rs766446321	999	L>V		No	ClinGen ExAC gnomAD
CA372187130 rs1307887296	1000	A>T		No	ClinGen gnomAD
rs749998843 CA4876608	1002	S>F		No	ClinGen ExAC gnomAD
rs200760463 CA4876605	1003	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs940860511 CA185341063	1004	T>A		No	ClinGen TOPMed gnomAD
CA185341061 rs1031443669	1004	T>I		No	ClinGen TOPMed
rs1168180135 CA372186970	1006	D>G		No	ClinGen TOPMed
CA4876601 rs557431519	1010	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4876600 rs747070274	1012	Q>R		No	ClinGen ExAC gnomAD
CA4876598 rs199766652	1014	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs199766652 CA4876599	1014	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA372186798 rs1168948865	1014	P>S		No	ClinGen TOPMed gnomAD
rs1419197143 CA372186767	1019	L>V		No	ClinGen gnomAD
CA4876595 rs200130521	1025	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756174866 CA4876592	1028	P>T		No	ClinGen ExAC gnomAD
CA185341038 rs890710133	1029	N>I		No	ClinGen Ensembl
CA372186703 rs1196521645	1029	N>Y		No	ClinGen gnomAD
rs1051729256 CA185341036	1030	V>G		No	ClinGen TOPMed
CA372186698 rs1336928253	1030	V>M		No	ClinGen gnomAD
rs749945680 CA4876591	1032	S>A		No	ClinGen ExAC TOPMed gnomAD
rs766982573 CA4876590	1032	S>C		No	ClinGen ExAC
rs1320023827 CA372186664	1035	A>T		No	ClinGen TOPMed gnomAD
rs1564913877 CA372186661	1035	A>V		No	ClinGen Ensembl
rs1331030029 CA372186644	1038	K>E		No	ClinGen gnomAD
rs1309215371 CA372186629	1040	A>T		No	ClinGen gnomAD
rs751173614 CA4876588	1041	S>P		No	ClinGen ExAC gnomAD
rs926249584 CA185341029	1042	E>A		No	ClinGen TOPMed
CA4876587 rs763684065	1043	D>G		No	ClinGen ExAC gnomAD
rs188165622 CA4876586	1044	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322197928 CA372186595	1045	N>S		No	ClinGen gnomAD
rs777029351 CA4876585	1046	D>N		No	ClinGen ExAC TOPMed gnomAD
CA185341018 rs942142121	1047	L>F		No	ClinGen gnomAD
rs575668028 CA185341016	1047	L>R		No	ClinGen Ensembl
rs555458076 CA4876582	1048	T>M		No	ClinGen ExAC TOPMed gnomAD
CA372186572 rs1168981689	1049	P>H		No	ClinGen gnomAD
CA4876580 rs531478907	1050	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372889196 CA4876578	1052	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4876579 rs774596713	1052	P>S		No	ClinGen ExAC gnomAD
rs376556200 CA4876576	1054	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs576122621 CA4876572	1056	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4876570 rs763780492	1062	I>V		No	ClinGen ExAC gnomAD
rs1387771776 CA372186492	1063	N>D		No	ClinGen gnomAD
rs117019764 CA4876569	1063	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754198419 CA4876568	1064	T>M		No	ClinGen ExAC TOPMed gnomAD
CA372186482 rs754198419	1064	T>R		No	ClinGen ExAC TOPMed gnomAD
rs754527590 CA4876553	1066	K>R		No	ClinGen ExAC TOPMed gnomAD
CA186037969 rs997129543	1068	K>E		No	ClinGen TOPMed gnomAD
rs777215885 CA4876552	1069	V>A		No	ClinGen ExAC TOPMed gnomAD
CA372286599 rs1486154486	1069	V>M		No	ClinGen gnomAD
CA4876551 rs757909304	1071	R>Q		No	ClinGen ExAC gnomAD
rs1592706820 CA372286558	1075	I>M		No	ClinGen Ensembl
CA372286559 rs1252232431	1075	I>T		No	ClinGen TOPMed gnomAD
rs1019604779 CA186037967	1075	I>V		No	ClinGen gnomAD
rs564963434 CA186037966	1078	C>G		No	ClinGen 1000Genomes TOPMed
rs564963434 CA372286540	1078	C>R		No	ClinGen 1000Genomes TOPMed
CA372286531 rs1365511495	1079	Q>R		No	ClinGen TOPMed
CA372286504 rs1275826175	1083	D>N		No	ClinGen gnomAD
rs766009763 CA186037965	1086	L>F		No	ClinGen Ensembl
CA4876545 rs762289902	1089	I>N		No	ClinGen ExAC gnomAD
rs768050103 CA4876546	1089	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372286453 rs1592706676	1090	E>G		No	ClinGen Ensembl
CA4876544 rs200013346	1090	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA372286442 rs1465099580	1092	E>K		No	ClinGen gnomAD
CA4876543 rs764209195	1096	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1422842165 CA372286401	1098	G>E		No	ClinGen gnomAD
CA4876542 rs202053207	1099	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759352743 CA4876539	1102	Q>R		No	ClinGen ExAC gnomAD
CA372286323 rs1219224870	1106	I>M		No	ClinGen TOPMed
CA372286324 rs1346319720	1106	I>T		No	ClinGen TOPMed gnomAD
CA372286223 rs768155236	1121	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768155236 CA4876512	1121	V>L		No	ClinGen ExAC TOPMed gnomAD
CA372286224 rs768155236	1121	V>M		No	ClinGen ExAC TOPMed gnomAD
CA186037568 rs916943670	1125	H>R		No	ClinGen TOPMed gnomAD
rs779737528 CA4876510	1125	H>Y		No	ClinGen ExAC gnomAD
rs762635077 CA372286192	1126	I>F		No	ClinGen ExAC TOPMed gnomAD
rs762635077 CA4876508	1126	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778447781 CA4876507	1127	L>P		No	ClinGen ExAC gnomAD
rs752828400 CA4876505	1128	S>F		No	ClinGen ExAC

No associated diseases with Q9ULH1

7 regional properties for Q9ULH1

Type	Name	Position	InterPro Accession
domain	SH3 domain	1067 - 1129	IPR001452
domain	Pleckstrin homology domain	324 - 418	IPR001849
repeat	Ankyrin repeat	586 - 665	IPR002110
domain	BAR domain	54 - 286	IPR004148
domain	ASAP, PH domain	316 - 422	IPR037844
domain	ASAP1, BAR domain	54 - 268	IPR037928
domain	ASAP1, SH3 domain	1071 - 1127	IPR038016

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane Golgi apparatus Golgi apparatus, trans-Golgi network	Predominantly cytoplasmic Partially membrane-associated Localized to the Golgi, TGN and rhodopsin transport carriers (RTC) when interacting with RHO in photoreceptors (PubMed:25673879) Localized to RTC when interacting with RAB11A and RAB11FIP3 in photoreceptors (PubMed:25673879)
PANTHER Family	PTHR45854	ASAP FAMILY MEMBER
PANTHER Subfamily	PTHR45854:SF2	ARF-GAP WITH SH3 DOMAIN, ANK REPEAT AND PH DOMAIN-CONTAINING PROTEIN 1
PANTHER Protein Class
PANTHER Pathway Category	Integrin signalling pathway ASAP1

4 GO annotations of cellular component

Name	Definition
cell projection membrane	The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
podosome	An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.

6 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
metal ion binding	Binding to a metal ion.
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.

5 GO annotations of biological process

Name	Definition
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
negative regulation of dendritic spine development	Any process that decreases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of membrane tubulation	Any process that activates or increases the frequency, rate or extent of membrane tubulation.
positive regulation of podosome assembly	Any process that activates or increases the rate or extent of podosome assembly.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5PK26	ACAP1	Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1	Bos taurus (Bovine)	SS
O97902	ASAP1	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1	Bos taurus (Bovine)	SS
A1Z7A6	Asap	ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein	Drosophila melanogaster (Fruit fly)	SS
Q15027	ACAP1	Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1	Homo sapiens (Human)	EV
Q15057	ACAP2	Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2	Homo sapiens (Human)	PR
O43150	ASAP2	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2	Homo sapiens (Human)	SS
Q8TDY4	ASAP3	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3	Homo sapiens (Human)	SS
Q8K2H4	Acap1	Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1	Mus musculus (Mouse)	SS
Q5U464	Asap3	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3	Mus musculus (Mouse)	SS
Q6ZQK5	Acap2	Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2	Mus musculus (Mouse)	PR
Q7SIG6	Asap2	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2	Mus musculus (Mouse)	SS
Q9QWY8	Asap1	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1	Mus musculus (Mouse)	SS
Q1AAU6	Asap1	Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1	Rattus norvegicus (Rat)	SS
Q9C6C3	AGD2	ADP-ribosylation factor GTPase-activating protein AGD2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SMX5	AGD4	ADP-ribosylation factor GTPase-activating protein AGD4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MRSSASRLSS	FSSRDSLWNR	MPDQISVSEF	IAETTEDYNS	PTTSSFTTRL	HNCRNTVTLL
70	80	90	100	110	120
EEALDQDRTA	LQKVKKSVKA	IYNSGQDHVQ	NEENYAQVLD	KFGSNFLSRD	NPDLGTAFVK
130	140	150	160	170	180
FSTLTKELST	LLKNLLQGLS	HNVIFTLDSL	LKGDLKGVKG	DLKKPFDKAW	KDYETKFTKI
190	200	210	220	230	240
EKEKREHAKQ	HGMIRTEITG	AEIAEEMEKE	RRLFQLQMCE	YLIKVNEIKT	KKGVDLLQNL
250	260	270	280	290	300
IKYYHAQCNF	FQDGLKTADK	LKQYIEKLAA	DLYNIKQTQD	EEKKQLTALR	DLIKSSLQLD
310	320	330	340	350	360
QKEDSQSRQG	GYSMHQLQGN	KEYGSEKKGY	LLKKSDGIRK	VWQRRKCSVK	NGILTISHAT
370	380	390	400	410	420
SNRQPAKLNL	LTCQVKPNAE	DKKSFDLISH	NRTYHFQAED	EQDYVAWISV	LTNSKEEALT
430	440	450	460	470	480
MAFRGEQSAG	ENSLEDLTKA	IIEDVQRLPG	NDICCDCGSS	EPTWLSTNLG	ILTCIECSGI
490	500	510	520	530	540
HREMGVHISR	IQSLELDKLG	TSELLLAKNV	GNNSFNDIME	ANLPSPSPKP	TPSSDMTVRK
550	560	570	580	590	600
EYITAKYVDH	RFSRKTCSTS	SAKLNELLEA	IKSRDLLALI	QVYAEGVELM	EPLLEPGQEL
610	620	630	640	650	660
GETALHLAVR	TADQTSLHLV	DFLVQNCGNL	DKQTALGNTV	LHYCSMYSKP	ECLKLLLRSK
670	680	690	700	710	720
PTVDIVNQAG	ETALDIAKRL	KATQCEDLLS	QAKSGKFNPH	VHVEYEWNLR	QEEIDESDDD
730	740	750	760	770	780
LDDKPSPIKK	ERSPRPQSFC	HSSSISPQDK	LALPGFSTPR	DKQRLSYGAF	TNQIFVSTST
790	800	810	820	830	840
DSPTSPTTEA	PPLPPRNAGK	GPTGPPSTLP	LSTQTSSGSS	TLSKKRPPPP	PPGHKRTLSD
850	860	870	880	890	900
PPSPLPHGPP	NKGAVPWGND	GGPSSSSKTT	NKFEGLSQQS	STSSAKTALG	PRVLPKLPQK
910	920	930	940	950	960
VALRKTDHLS	LDKATIPPEI	FQKSSQLAEL	PQKPPPGDLP	PKPTELAPKP	QIGDLPPKPG
970	980	990	1000	1010	1020
ELPPKPQLGD	LPPKPQLSDL	PPKPQMKDLP	PKPQLGDLLA	KSQTGDVSPK	AQQPSEVTLK
1030	1040	1050	1060	1070	1080
SHPLDLSPNV	QSRDAIQKQA	SEDSNDLTPT	LPETPVPLPR	KINTGKNKVR	RVKTIYDCQA
1090	1100	1110	1120
DNDDELTFIE	GEVIIVTGEE	DQEWWIGHIE	GQPERKGVFP	VSFVHILSD