AiPD: Autoinhibited Protein Database

O75044

Gene name	SRGAP2
Protein name	SLIT-ROBO Rho GTPase-activating protein 2
Names	srGAP2, Formin-binding protein 2, Rho GTPase-activating protein 34
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23380
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

157-266 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

157-266 (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

7 structures for O75044

Entry ID	Method	Resolution	Chain	Position	Source
2DL8	NMR	-	A	729-787	PDB
4RTT	X-ray	187 A	A/B	729-815	PDB
4RUG	X-ray	173 A	A/B	729-815	PDB
5I6J	X-ray	270 A	A	1-484	PDB
5I6R	X-ray	215 A	A	1-484	PDB
5I7D	X-ray	395 A	A/B	1-484	PDB
AF-O75044-F1	Predicted				AlphaFoldDB

669 variants for O75044

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2987927 CA1360420 RCV000578222	235	R>H	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA344600128 rs1219502828	7	F>L		No	ClinGen TOPMed
rs1571558719 CA344600201	16	E>D		No	ClinGen Ensembl
rs1399685727 CA344600280	26	A>T		No	ClinGen TOPMed
CA344600565 rs1571798067	65	R>C		No	ClinGen Ensembl
CA344600663 rs1421959976	80	S>N		No	ClinGen TOPMed
CA344600689 rs1477330577	83	D>E		No	ClinGen TOPMed
CA1360277 rs782702975	88	K>R		No	ClinGen ExAC gnomAD
rs781804575 CA1360278	89	D>V		No	ClinGen ExAC gnomAD
rs1553335637 CA344601115	89	D>Y		No	ClinGen gnomAD
CA344601163 rs1553335644	93	L>F		No	ClinGen gnomAD
rs782471815 CA1360283	95	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1360284 rs782622630	96	V>F		No	ClinGen ExAC gnomAD
rs1553335655 CA344601214	98	C>Y		No	ClinGen gnomAD
CA344601236 rs1553335661	100	N>D		No	ClinGen gnomAD
rs1553335662 CA344601240	100	N>S		No	ClinGen gnomAD
CA1360286 rs782326443	102	L>F		No	ClinGen ExAC gnomAD
CA1360287 rs782011141	105	Q>*		No	ClinGen ExAC gnomAD
rs782283651 CA1360288	105	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1553335673 CA344601303	105	Q>L		No	ClinGen gnomAD
rs782386564 CA1360289	106	V>A		No	ClinGen ExAC
rs782090583 CA1360291	108	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201036189 CA1360290	108	R>W		No	ClinGen ExAC gnomAD
CA1360292 rs782750384	110	S>N		No	ClinGen ExAC
rs1166208646 CA344601365	111	R>K		No	ClinGen TOPMed
rs782069029 CA344601407 CA1360294	112	D>E		No	ClinGen ExAC gnomAD
CA1360293 rs781923753	112	D>N		No	ClinGen ExAC
rs782788621 CA1360295	113	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1553335709 CA344601421	114	T>A		No	ClinGen gnomAD
CA344601434 rs1553335714	115	T>I		No	ClinGen gnomAD
CA344601433 rs1553335714	115	T>N		No	ClinGen gnomAD
CA344601471 rs1201360359	119	I>V		No	ClinGen TOPMed
rs1553335723 CA344601503	122	N>D		No	ClinGen gnomAD
CA344601523 rs1553335727	123	N>S		No	ClinGen gnomAD
CA1360298 rs782729086	124	I>M		No	ClinGen ExAC TOPMed
rs1553335729 CA344601530	124	I>V		No	ClinGen gnomAD
CA344601549 rs1553335733	125	I>S		No	ClinGen Ensembl
rs1553335737 CA344601553	126	P>S		No	ClinGen gnomAD
rs1553335737 CA344601551	126	P>T		No	ClinGen gnomAD
CA1360299 rs781839892	127	R>Q		No	ClinGen ExAC gnomAD
rs1553335749 CA344601577	129	V>I		No	ClinGen gnomAD
rs201481398 CA1360301	130	Q>E		No	ClinGen ExAC gnomAD
CA344601585 rs1553335755	130	Q>P		No	ClinGen gnomAD
CA1360303 rs782555352	132	S>G		No	ClinGen ExAC TOPMed gnomAD
rs782618467 CA1360304	132	S>N		No	ClinGen ExAC gnomAD
rs1553335773 CA344601617	133	E>G		No	ClinGen gnomAD
rs782344135 CA1360306	133	E>K		No	ClinGen ExAC gnomAD
CA344601625 rs1553335777	134	D>N		No	ClinGen gnomAD
rs782622976 CA1360307	136	G>E		No	ClinGen ExAC gnomAD
CA1360308 rs782189075	137	R>T		No	ClinGen ExAC gnomAD
CA344601674 rs1553335794	138	L>P		No	ClinGen gnomAD
rs782332038 CA1360309	139	F>V		No	ClinGen ExAC gnomAD
CA1360310 rs782023572	140	K>R		No	ClinGen ExAC gnomAD
CA344600756 rs1482072730	145	V>I		No	ClinGen TOPMed
rs201168060 CA36621941	162	S>L		No	ClinGen TOPMed gnomAD
rs1553351015 CA344600910	164	M>I		No	ClinGen gnomAD
CA344600926 rs1553351018	166	T>I		No	ClinGen gnomAD
CA344600936 rs1553351024	168	H>D		No	ClinGen gnomAD
rs782464108 CA1360349	169	M>I		No	ClinGen ExAC gnomAD
rs1284382870 CA344600948	169	M>T		No	ClinGen TOPMed gnomAD
rs1210005357 CA344600955	170	Y>C		No	ClinGen TOPMed
CA344600952 rs1553351034	170	Y>H		No	ClinGen gnomAD
rs782654307 CA1360350	171	N>S		No	ClinGen ExAC gnomAD
CA344600972 rs782368243	173	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782368243 CA1360352	173	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1553351063 CA344600988	175	I>V		No	ClinGen gnomAD
CA344601001 rs1553351076	176	S>R		No	ClinGen gnomAD
rs1553351080 CA344601004	177	A>S		No	ClinGen gnomAD
CA344601006 rs1553351086	177	A>V		No	ClinGen gnomAD
CA344601020 rs1553351096	179	S>N		No	ClinGen gnomAD
CA344601022 rs1553351102	179	S>R		No	ClinGen gnomAD
rs1553351118 CA344601045	183	E>K		No	ClinGen gnomAD
CA1360356 rs782366468	184	A>S		No	ClinGen ExAC gnomAD
CA1360355 rs782366468	184	A>T		No	ClinGen ExAC gnomAD
CA1360357 rs782069444	184	A>V		No	ClinGen ExAC gnomAD
rs1553351140 CA344601056	185	E>K		No	ClinGen gnomAD
rs1346263035 CA344601068	186	K>R		No	ClinGen TOPMed gnomAD
rs1553351154 CA344601074	187	Q>*		No	ClinGen gnomAD
CA344601133 rs1553351167	191	Q>E		No	ClinGen gnomAD
rs1553351177 CA344601161	192	I>T		No	ClinGen gnomAD
CA344601178 rs782778984	193	G>A		No	ClinGen ExAC gnomAD
CA1360362 rs782778984	193	G>D		No	ClinGen ExAC gnomAD
rs781838989 CA344601203	195	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1360364 rs782438952	195	S>L		No	ClinGen ExAC gnomAD
CA1360363 rs781838989	195	S>P		No	ClinGen ExAC TOPMed gnomAD
CA344601200 rs781838989	195	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1553351200 CA344601257	197	K>R		No	ClinGen gnomAD
CA344601270 rs1553351207	198	Q>*		No	ClinGen gnomAD
rs1553351217 CA344601274	198	Q>H		No	ClinGen gnomAD
rs1553351212 CA344601273	198	Q>R		No	ClinGen gnomAD
CA1360368 rs782635539	200	D>E		No	ClinGen ExAC gnomAD
rs782539800 CA1360367	200	D>G		No	ClinGen ExAC gnomAD
CA1360371 rs782460808	201	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1360370 rs782460808	201	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1360369 rs782258026	201	R>W		No	ClinGen ExAC gnomAD
rs376951626 CA1360375	205	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376951626 CA344601357	205	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA344601351 rs1553351248	205	R>S		No	ClinGen gnomAD
rs1415749713 CA344601372	206	S>F		No	ClinGen TOPMed gnomAD
CA344601368 rs1415749713	206	S>Y		No	ClinGen TOPMed gnomAD
rs1179862112 CA344601375	207	P>A		No	ClinGen TOPMed
rs1472439998 CA344601379	207	P>L		No	ClinGen TOPMed
rs782371294 CA1360377	208	D>N		No	ClinGen ExAC gnomAD
CA344601391 rs1553351281	209	S>C		No	ClinGen gnomAD
CA344601392 rs1553351281	209	S>F		No	ClinGen gnomAD
CA344601388 rs1553351279	209	S>P		No	ClinGen gnomAD
rs1553351285 CA344601394	210	T>A		No	ClinGen gnomAD
CA1360378 rs371626449	210	T>M		No	ClinGen ExAC TOPMed gnomAD
CA344601395 rs1553351285	210	T>S		No	ClinGen gnomAD
CA344601398 rs1553351300	211	A>T		No	ClinGen gnomAD
rs781936837 CA1360381	211	A>V		No	ClinGen ExAC gnomAD
rs782148673 CA1360382	212	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1213983094 CA344601437	213	V>D		No	ClinGen TOPMed
CA1360384 rs781846974	213	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1360385 rs782125164	214	R>C		No	ClinGen ExAC gnomAD
rs782715276 CA1360386	214	R>H		No	ClinGen ExAC TOPMed gnomAD
CA344601450 rs782715276	214	R>L		No	ClinGen ExAC TOPMed gnomAD
CA344601443 rs782125164	214	R>S		No	ClinGen ExAC gnomAD
rs1363282299 CA344601467	215	I>T		No	ClinGen TOPMed gnomAD
CA1360388 rs782444846	215	I>V		No	ClinGen ExAC TOPMed gnomAD
CA344601475 rs1553351341	216	E>K		No	ClinGen gnomAD
rs1553351348 CA344601501	217	E>*		No	ClinGen gnomAD
CA344601556 rs782647199	219	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1553351353 CA344601536	219	H>Y		No	ClinGen gnomAD
rs1553351364 CA344601560	220	V>I		No	ClinGen gnomAD
rs782343266 CA1360394	221	R>Q		No	ClinGen ExAC gnomAD
rs782259132 CA1360393	221	R>W		No	ClinGen ExAC gnomAD
rs1553351381 CA344601650	225	V>M		No	ClinGen gnomAD
rs1553351388 CA344601680	227	K>E		No	ClinGen gnomAD
CA344601706 rs1364612668	228	I>T		No	ClinGen TOPMed gnomAD
rs1553351399 CA344601732	230	K>T		No	ClinGen gnomAD
rs1553351410 CA344601737	231	M>L		No	ClinGen gnomAD
rs1553351419 CA344601758	233	E>D		No	ClinGen gnomAD
rs1553351417 CA344601755	233	E>G		No	ClinGen gnomAD
CA1360419 rs782293627	235	R>C		No	ClinGen ExAC gnomAD
CA344601780 rs782293627	235	R>G		No	ClinGen ExAC gnomAD
rs782350562 CA1360423	237	A>G		No	ClinGen ExAC gnomAD
CA1360422 rs782203626	237	A>T		No	ClinGen ExAC gnomAD
rs1553351884 CA344601801	238	K>T		No	ClinGen gnomAD
rs781927021 CA1360424	240	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782784111 CA1360429	241	E>D		No	ClinGen ExAC gnomAD
CA1360428 rs782120717	241	E>K		No	ClinGen ExAC gnomAD
CA1360430 rs781955395	242	N>K		No	ClinGen ExAC gnomAD
rs1553351919 CA344601827	242	N>S		No	ClinGen gnomAD
CA344601847 rs1553351928	245	K>R		No	ClinGen gnomAD
rs782097134 CA344601854	246	A>D		No	ClinGen ExAC gnomAD
rs1553351931 CA344601851	246	A>T		No	ClinGen gnomAD
CA1360431 rs782097134	246	A>V		No	ClinGen ExAC gnomAD
CA1360433 rs563589398	247	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344601864 rs1553351962	248	K>*		No	ClinGen gnomAD
CA528740916 rs1553351888	248	K>N		No	ClinGen gnomAD
rs1553351967 CA344601866	248	K>R		No	ClinGen gnomAD
rs782760413 CA344601873	249	A>D		No	ClinGen ExAC gnomAD
rs782760413 CA1360435	249	A>V		No	ClinGen ExAC gnomAD
CA344601877 rs2987928	250	R>L		No	ClinGen ExAC gnomAD
rs2987928 CA1360438	250	R>Q		No	ClinGen ExAC gnomAD
rs375845037 CA1360437	250	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782169537 CA1360439	251	N>K		No	ClinGen ExAC gnomAD
rs370412816 CA1360440	252	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360442 rs782296427	254	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344601911 rs1553352011	256	A>T		No	ClinGen gnomAD
CA1360445 rs782218322	256	A>V		No	ClinGen ExAC gnomAD
CA1360449 rs782802875	261	N>D		No	ClinGen ExAC gnomAD
rs781982309 CA1360450	261	N>S		No	ClinGen ExAC gnomAD
rs782132316 CA1360451	262	A>T		No	ClinGen ExAC
CA1360452 rs782723862	262	A>V		No	ClinGen ExAC gnomAD
rs782432421 CA1360454	263	S>F		No	ClinGen ExAC gnomAD
CA1360455 rs782709336 CA1360456	265	F>L		No	ClinGen ExAC TOPMed gnomAD
CA344601969 rs1553352065	265	F>S		No	ClinGen gnomAD
CA344601974 rs1553352078	266	K>R		No	ClinGen gnomAD
CA1360459 rs545508387	267	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs782473647 CA1360460	270	H>R		No	ClinGen ExAC gnomAD
CA344602002 rs1553352098	270	H>Y		No	ClinGen gnomAD
rs782620359 CA1360461	272	L>I		No	ClinGen ExAC TOPMed gnomAD
rs782184010 CA1360462	273	S>A		No	ClinGen ExAC gnomAD
rs782403616 CA1360463	273	S>C		No	ClinGen ExAC gnomAD
rs782184010 CA344602020	273	S>P		No	ClinGen ExAC gnomAD
CA344602030 rs1553352124	274	D>E		No	ClinGen gnomAD
rs1553352119 CA344602024	274	D>H		No	ClinGen gnomAD
rs1553352133 CA344602033	275	L>F		No	ClinGen gnomAD
CA344602041 rs1553352134	276	I>T		No	ClinGen gnomAD
CA344602076 rs1553355431	279	C>Y		No	ClinGen gnomAD
CA344602084 rs1370239487	280	C>F		No	ClinGen TOPMed
rs201355871 CA36625791	289	N>S		No	ClinGen TOPMed
CA344602154 rs1553355471	290	R>Q		No	ClinGen gnomAD
rs1553355465 CA344602151	290	R>W		No	ClinGen gnomAD
rs782402597 CA1360487	293	R>C		No	ClinGen ExAC gnomAD
CA344602169 rs1553355478	293	R>H		No	ClinGen gnomAD
rs1233379451 CA344602210	299	E>D		No	ClinGen TOPMed
CA344602231 rs1553355520	303	E>K		No	ClinGen gnomAD
RCV000761692 rs1350526469 CA344602264	307	H>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA344602266 rs1350526469	307	H>R		No	ClinGen TOPMed gnomAD
CA344602262 rs1572059034	307	H>Y		No	ClinGen Ensembl
rs1277021661 CA344602272	308	E>A		No	ClinGen TOPMed
CA344602301 rs1553355541	312	A>V		No	ClinGen gnomAD
CA344602308 rs782099674	313	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1360494 rs781810037	314	E>K		No	ClinGen ExAC gnomAD
CA1360495 rs782163917	316	A>V		No	ClinGen ExAC gnomAD
rs1553355561 CA344602333	317	V>A		No	ClinGen gnomAD
CA36625817 rs553836934	318	E>D		No	ClinGen 1000Genomes
CA344602370 rs1553355573	323	T>A		No	ClinGen gnomAD
CA1360497 rs781874634	323	T>I		No	ClinGen ExAC gnomAD
rs1553355584 CA344602378	324	S>N		No	ClinGen gnomAD
rs1349903186 CA344602380	324	S>R		No	ClinGen TOPMed
CA344602394 rs1553355594	326	K>R		No	ClinGen gnomAD
rs573838817 CA1360499	328	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781783401 CA1360501	328	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781783401 CA1360500	328	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1173770892 CA344602440	332	M>I		No	ClinGen TOPMed
rs1553355636 CA344602452	334	N>T		No	ClinGen gnomAD
CA344602463 rs542412176	335	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344602461 rs1413666951	335	N>S		No	ClinGen TOPMed gnomAD
rs562297598 CA1360505	336	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1360506 rs782510526	338	C>*		No	ClinGen ExAC gnomAD
CA1360507 rs782657746	339	P>S		No	ClinGen ExAC gnomAD
rs782223290 CA344602490	340	P>A		No	ClinGen ExAC gnomAD
CA1360508 rs782223290	340	P>T		No	ClinGen ExAC gnomAD
rs782354562 CA1360510	341	M>L		No	ClinGen ExAC TOPMed gnomAD
CA344602495 rs782354562	341	M>V		No	ClinGen ExAC TOPMed gnomAD
CA344602510 rs1553355691	342	K>N		No	ClinGen gnomAD
rs782194944 CA1360512	347	P>L		No	ClinGen ExAC gnomAD
rs781918979 CA1360511	347	P>S		No	ClinGen ExAC gnomAD
rs1553355712 CA344602548	348	H>D		No	ClinGen gnomAD
rs1553355725 CA344602556	349	M>K		No	ClinGen gnomAD
CA344602555 rs781980051 CA1360515	349	M>L		No	ClinGen ExAC TOPMed gnomAD
rs781980051 CA1360514	349	M>V		No	ClinGen ExAC TOPMed gnomAD
rs782730830 CA1360516	351	D>N		No	ClinGen ExAC
CA344602580 rs1188031255	352	M>R		No	ClinGen TOPMed gnomAD
CA344602579 rs1188031255	352	M>T		No	ClinGen TOPMed gnomAD
rs1553357041 CA344602678	364	S>R		No	ClinGen gnomAD
CA344602690 rs1408239465	366	L>P		No	ClinGen TOPMed
rs782736135 CA1360539	367	V>L		No	ClinGen ExAC gnomAD
rs1553357047 CA344602707	369	R>K		No	ClinGen gnomAD
rs781891452 CA1360543	387	V>G		No	ClinGen ExAC gnomAD
rs1553357201 CA344602875	391	M>T		No	ClinGen gnomAD
rs1553357204 CA344602887	392	E>D		No	ClinGen gnomAD
rs1553357209 CA344602897	394	T>N		No	ClinGen gnomAD
CA344602910 rs1553357218	396	Q>L		No	ClinGen gnomAD
CA344602914 rs1553357228	397	T>S		No	ClinGen gnomAD
rs1553357252 CA344602946	401	I>T		No	ClinGen gnomAD
CA344602944 rs1553357247	401	I>V		No	ClinGen gnomAD
rs782566986 CA1360548	405	E>*		No	ClinGen ExAC gnomAD
CA1360550 rs782399145	405	E>G		No	ClinGen ExAC
rs782566986 CA1360549	405	E>K		No	ClinGen ExAC gnomAD
CA344602973 rs1553357314	406	D>H		No	ClinGen gnomAD
rs1553357320 CA344602977	406	D>V		No	ClinGen gnomAD
CA344602982 rs1553357324	407	F>L		No	ClinGen gnomAD
CA1360552 rs782236953	408	D>N		No	ClinGen ExAC TOPMed
rs782392489 CA1360553	409	V>A		No	ClinGen ExAC
rs1553357336 CA344603013	411	D>E		No	ClinGen gnomAD
rs1196209446 CA344603042	415	Y>C		No	ClinGen TOPMed
rs781959001 CA1360554	416	S>R		No	ClinGen ExAC gnomAD
rs782103311 CA1360555	419	M>I		No	ClinGen ExAC gnomAD
CA344603071 rs1553357345	419	M>T		No	ClinGen gnomAD
CA344603075 rs1553357349	420	E>K		No	ClinGen gnomAD
rs1553357350 CA344603080	420	E>V		No	ClinGen gnomAD
rs781938722 CA1360557	422	V>I		No	ClinGen ExAC TOPMed gnomAD
CA344603109 rs1301077778	425	T>A		No	ClinGen TOPMed
rs1392282287 CA344603113	425	T>M		No	ClinGen TOPMed gnomAD
CA1360560 rs781867190	428	E>D		No	ClinGen ExAC gnomAD
rs1553357377 CA344603133	429	T>P		No	ClinGen gnomAD
rs782077081 CA1360561	431	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1553357391 CA344603162	432	S>R		No	ClinGen gnomAD
CA344603170 rs782737514	433	K>N		No	ClinGen ExAC gnomAD
rs1553357400 CA344603180	435	S>N		No	ClinGen gnomAD
CA344603217 rs1572070218	440	R>I		No	ClinGen Ensembl
CA344603221 rs1553357410	441	A>P		No	ClinGen gnomAD
CA1360563 rs781788932	441	A>V		No	ClinGen ExAC gnomAD
CA1360566 rs782660255	443	Q>H		No	ClinGen ExAC
rs782446751 CA1360564	443	Q>L		No	ClinGen ExAC gnomAD
CA344603271 rs1553357442	448	Q>E		No	ClinGen gnomAD
CA344603281 rs1553357447	449	F>S		No	ClinGen gnomAD
rs782497975 CA1360569	450	Y>H		No	ClinGen ExAC gnomAD
CA344603305 rs1553357461	452	T>I		No	ClinGen gnomAD
CA344603384 rs1572095237	454	M>V		No	ClinGen Ensembl
rs1553361718 CA344603429	460	G>S		No	ClinGen gnomAD
CA1360597 rs782305353	461	R>G		No	ClinGen ExAC gnomAD
CA1360600 rs782409756	467	L>S		No	ClinGen ExAC gnomAD
rs1553361754 CA344603510	471	H>Q		No	ClinGen gnomAD
CA344603535 rs1553361763	475	Q>L		No	ClinGen gnomAD
CA1360613 rs782197656	483	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs577398952 CA1360612	483	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553363449 CA344603607	484	T>I		No	ClinGen gnomAD
CA344603625 rs1553363459	487	S>R		No	ClinGen gnomAD
CA344603629 rs1553363465	487	S>T		No	ClinGen gnomAD
CA1360616 rs782234215	488	L>P		No	ClinGen ExAC gnomAD
CA1360615 rs368544055	488	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782388736 CA1360617	489	A>T		No	ClinGen ExAC gnomAD
rs782573262 CA1360636	490	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1360637 rs567791300	491	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1360638 rs368897950	491	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782683623 CA1360639	492	S>R		No	ClinGen ExAC gnomAD
CA1360640 rs371858865	494	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs189377713 CA1360641	496	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781954863 CA1360642	498	Q>E		No	ClinGen ExAC gnomAD
CA1360663 rs782257639	500	S>Y		No	ClinGen ExAC gnomAD
CA344603754 rs1454702693	501	S>R		No	ClinGen TOPMed
rs782339976 CA1360664	504	I>V		No	ClinGen ExAC gnomAD
rs782712086 CA1360667	513	R>Q		No	ClinGen ExAC gnomAD
CA344603831 rs1401526821	513	R>W		No	ClinGen TOPMed gnomAD
rs1035930285 CA36642037	514	F>L		No	ClinGen Ensembl
rs782173959 CA1360669	516	S>G		No	ClinGen ExAC gnomAD
CA1360670 rs782763828	517	R>S		No	ClinGen ExAC gnomAD
rs1553367903 CA344603869	518	H>R		No	ClinGen gnomAD
rs781984619 CA1360687	521	Q>R		No	ClinGen ExAC gnomAD
CA1360689 rs782737142	531	S>F		No	ClinGen ExAC gnomAD
rs781971946 CA1360690	537	D>H		No	ClinGen ExAC gnomAD
rs782063303 CA1360691	540	N>I		No	ClinGen ExAC
CA1360692 rs568372662	541	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA36645857 rs969989213	543	E>A		No	ClinGen Ensembl
CA344604095 rs781991193	547	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1553370633 CA344604170	558	M>T		No	ClinGen gnomAD
rs782735756 CA1360718	558	M>V		No	ClinGen ExAC TOPMed gnomAD
rs781788641 CA1360719	570	R>Q		No	ClinGen ExAC gnomAD
rs1480133661 CA344604250	570	R>W		No	ClinGen TOPMed
CA344604273 rs1553370655	574	H>Y		No	ClinGen gnomAD
rs782064175 CA1360720	576	L>F		No	ClinGen ExAC gnomAD
CA1360722 rs781907042	577	F>V		No	ClinGen ExAC gnomAD
CA344604302 rs1553370671	578	P>L		No	ClinGen gnomAD
CA344604308 rs1262843878	579	K>R		No	ClinGen TOPMed
rs1553370679 CA344604312	580	D>N		No	ClinGen Ensembl
rs782659466 CA1360724	583	H>R		No	ClinGen ExAC gnomAD
rs182729699 CA1360725	587	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1360727 rs782574861	589	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1360728 rs782202231	590	T>A		No	ClinGen ExAC gnomAD
rs782202231 CA344604383	590	T>S		No	ClinGen ExAC gnomAD
rs781794296 CA1360744	591	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1160339850 CA344451593	592	D>N		No	ClinGen TOPMed
CA1360746 rs782452728	593	N>K		No	ClinGen ExAC gnomAD
rs1572159944 CA344451620	593	N>S		No	ClinGen Ensembl
CA344451649 rs1379951435	595	Q>H		No	ClinGen TOPMed gnomAD
CA344451658 rs1553371384	596	E>A		No	ClinGen gnomAD
CA344451653 rs1553371374	596	E>K		No	ClinGen gnomAD
CA36514399 rs1047081946	600	H>Y		No	ClinGen TOPMed
CA1360747 rs374718819	601	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360749 rs372190101	602	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1360748 rs369067812	602	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA36514430 rs535889260	605	L>V		No	ClinGen gnomAD
CA344451745 rs1261883175	606	L>V		No	ClinGen TOPMed gnomAD
CA36514445 rs201888099	607	V>F		No	ClinGen gnomAD
rs1553371423 CA344451796	612	T>A		No	ClinGen gnomAD
CA1360752 rs782574545	614	I>M		No	ClinGen ExAC gnomAD
CA344451846 rs1572160229	615	I>T		No	ClinGen Ensembl
rs782270172 CA1360753	615	I>V		No	ClinGen ExAC TOPMed gnomAD
rs782420502 CA1360754	616	M>I		No	ClinGen ExAC gnomAD
rs782345698 CA1360757	620	F>L		No	ClinGen ExAC gnomAD
CA1360756 rs782267023	620	F>L		No	ClinGen ExAC gnomAD
rs781981581 CA1360758	621	A>D		No	ClinGen ExAC
CA344451980 rs1553371464	624	N>S		No	ClinGen gnomAD
CA344452505 rs1553373617	629	F>S		No	ClinGen gnomAD
rs1558441803 CA344452514	630	S>G		No	ClinGen Ensembl
CA344452560 rs1553373621	634	M>L		No	ClinGen gnomAD
CA344452589 rs1553373623	637	P>S		No	ClinGen gnomAD
CA1360773 rs782600837	640	L>V		No	ClinGen ExAC gnomAD
rs1553373639 CA344452624	641	A>T		No	ClinGen gnomAD
rs1173255909 CA344452635	642	I>V		No	ClinGen TOPMed gnomAD
CA1360776 rs781939266	649	M>L		No	ClinGen ExAC gnomAD
CA344452749 rs868989180	654	G>D		No	ClinGen Ensembl
CA344452754 rs1252285246	655	H>Y		No	ClinGen TOPMed
rs781997381 CA1360781	656	D>N		No	ClinGen ExAC gnomAD
CA344452815 rs1553373685	662	A>P		No	ClinGen gnomAD
CA1360788 rs375969327	664	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1272778013 CA344452910	668	I>M		No	ClinGen TOPMed
rs1222539735 CA344452930	670	T>A		No	ClinGen TOPMed
rs1350654679 CA344452936	670	T>I		No	ClinGen TOPMed gnomAD
CA1360790 rs781898242	672	I>M		No	ClinGen ExAC gnomAD
rs782774224 CA1360792	675	H>Q		No	ClinGen ExAC gnomAD
CA1360791 rs782515280	675	H>R		No	ClinGen ExAC gnomAD
rs377743666 CA1360793	676	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782541490 CA1360797	686	E>D		No	ClinGen ExAC gnomAD
CA1360796 rs781816531	686	E>K		No	ClinGen ExAC gnomAD
rs370656752 CA1360799	692	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA344453360 rs370656752	692	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA36517300 rs1033712136	693	G>R		No	ClinGen Ensembl
CA344453378 rs1416306471	694	G>R		No	ClinGen TOPMed
rs1553373766 CA344453392	695	S>R		No	ClinGen gnomAD
rs782337002 CA1360800	696	M>L		No	ClinGen ExAC
CA344453437 rs1553373782	697	E>G		No	ClinGen gnomAD
CA344453427 rs1553373775	697	E>K		No	ClinGen gnomAD
CA1360801 rs782604038	698	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs782181909 CA1360802	699	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1553375396 CA344454307	701	D>G		No	ClinGen gnomAD
rs782344684 CA1360826	703	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1433275965 CA344454345	704	H>Y		No	ClinGen TOPMed
CA344454406 rs1189126103	709	S>L		No	ClinGen TOPMed gnomAD
rs1259163617 CA344454410	710	V>I		No	ClinGen TOPMed
CA1360829 rs782328281	711	E>K		No	ClinGen ExAC gnomAD
CA1360830 rs530268226	712	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA344454469 rs1553375445	714	T>I		No	ClinGen gnomAD
rs782172330 CA1360831	715	Q>P		No	ClinGen ExAC gnomAD
rs1553375453 CA344454500	717	V>M		No	ClinGen gnomAD
rs374071443 CA1360833	718	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360832 rs374071443	718	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA344454526 rs1553375465	719	A>G		No	ClinGen gnomAD
rs201846020 CA1360835	719	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1251232149 CA344454562	722	H>R		No	ClinGen TOPMed
rs117722554 CA1360836	723	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1553375485 CA344454585	724	S>N		No	ClinGen gnomAD
CA344454602 rs1553375494	725	D>E		No	ClinGen TOPMed
rs754921011 CA1360839	725	D>N		No	ClinGen ExAC TOPMed gnomAD
CA344454623 rs1572186857	727	E>*		No	ClinGen Ensembl
CA344455745 rs1553376715	732	E>K		No	ClinGen gnomAD
CA344455764 rs1553376721	733	A>T		No	ClinGen gnomAD
rs782553255 CA1360863	736	K>M		No	ClinGen ExAC TOPMed gnomAD
CA344455828 rs1553376727	737	F>L		No	ClinGen gnomAD
CA344455861 rs1553376734	739	Y>C		No	ClinGen gnomAD
rs368723990 CA36521156	740	V>M		No	ClinGen ESP TOPMed gnomAD
rs1166290927 CA344455886	741	G>S		No	ClinGen TOPMed
CA1360865 rs373240789	742	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360866 rs782518032	744	A>V		No	ClinGen ExAC
rs1553376777 CA344455942	745	R>*		No	ClinGen gnomAD
CA1360867 rs782611082	745	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1360868 rs782611082	745	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344456038 rs1466545625	750	K>R		No	ClinGen TOPMed gnomAD
CA344456065 rs1553376804	752	G>*		No	ClinGen gnomAD
CA1360870 rs782015320	755	L>V		No	ClinGen ExAC TOPMed gnomAD
CA36521201 rs534391977	756	L>Q		No	ClinGen Ensembl
CA1360871 rs782290329	760	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1360872 rs782374407	761	A>V		No	ClinGen ExAC gnomAD
CA1360873 rs781996641	763	D>N		No	ClinGen ExAC gnomAD
CA344456221 rs1553376838	764	D>N		No	ClinGen gnomAD
rs782363098 CA1360875	769	R>Q		No	ClinGen ExAC gnomAD
rs781922187 CA1360876	771	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1360877 rs782068780	771	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1553376861 CA344456335	772	G>D		No	ClinGen gnomAD
CA344456344 rs1553376865	773	I>V		No	ClinGen TOPMed
CA1360879 rs781908994	774	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1360881 rs782799900	777	I>V		No	ClinGen ExAC TOPMed gnomAD
rs900718580 CA36521224	778	P>L		No	ClinGen Ensembl
rs769054196 CA1360884	783	V>M		No	ClinGen ExAC TOPMed gnomAD
rs377297991 CA1360885	785	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA344456536 rs1348741525	786	D>N		No	ClinGen TOPMed
CA1360886 rs782551475	787	T>I		No	ClinGen ExAC TOPMed gnomAD
CA344456553 rs782551475	787	T>N		No	ClinGen ExAC TOPMed gnomAD
rs373706280 CA1360912	788	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782560820 CA344457216	789	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782351219 CA344457221	790	G>C		No	ClinGen ExAC TOPMed gnomAD
rs782351219 CA1360914	790	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344457231 rs1403354055	791	V>I		No	ClinGen TOPMed
CA1360915 rs781912772	792	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1553377784 CA344457258	793	E>K		No	ClinGen gnomAD
CA344457275 rs1457259064	794	R>K		No	ClinGen TOPMed
CA344457316 rs1553377794	797	P>S		No	ClinGen gnomAD
rs782413632 CA1360917	807	P>A		No	ClinGen ExAC gnomAD
rs1553377804 CA344457443	808	P>L		No	ClinGen gnomAD
CA1360918 rs782026187	809	E>K		No	ClinGen ExAC gnomAD
rs367891634 CA1360919	810	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360920 rs782774981	814	A>T		No	ClinGen ExAC gnomAD
rs1553377821 CA344457509	815	R>I		No	ClinGen gnomAD
rs372717466 CA1360921	816	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360923 rs782691545	817	G>A		No	ClinGen ExAC gnomAD
CA344457530 rs1553377838	818	A>T		No	ClinGen gnomAD
CA344457536 rs1553377845	819	S>R		No	ClinGen gnomAD
rs932553630 CA36522440	820	C>S		No	ClinGen TOPMed
rs782531606 CA1360925	824	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1553377858 CA344457599	825	H>Y		No	ClinGen gnomAD
rs368222074 CA1360927	826	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368222074 CA1360926	826	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs782524607 CA1360928	828	D>N		No	ClinGen ExAC gnomAD
rs782611608 CA1360929	829	I>T		No	ClinGen ExAC gnomAD
CA344457641 rs1553377874	829	I>V		No	ClinGen gnomAD
CA344457683 rs1282456900	832	A>G		No	ClinGen TOPMed
CA344457693 rs1553377889	833	N>S		No	ClinGen gnomAD
CA1360950 rs782539732	840	R>C		No	ClinGen ExAC gnomAD
CA1360951 rs782635494	840	R>H		No	ClinGen ExAC gnomAD
CA1360952 rs782255159	841	P>L		No	ClinGen ExAC gnomAD
CA344458117 rs1553379263	842	E>G		No	ClinGen gnomAD
rs1359526051 CA344458132	843	S>Y		No	ClinGen TOPMed
rs782477538 CA1360953	846	I>V		No	ClinGen ExAC gnomAD
CA1360955 rs782183034	847	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1360954 rs373934616	847	R>W		No	ClinGen ESP ExAC gnomAD
rs782666240 CA1360957	848	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1360958 rs782301652	849	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1360961 rs782084194	851	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782371268 CA1360959	851	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1248041095 CA344458210	852	S>G		No	ClinGen TOPMed
rs533088717 CA1360962	853	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553379288 CA344458221	853	D>N		No	ClinGen Ensembl
CA1360963 rs781929068	854	S>G		No	ClinGen ExAC gnomAD
rs782144033 CA1360964	854	S>N		No	ClinGen ExAC TOPMed gnomAD
rs546870767 CA1360965	855	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553379304 CA344458249	856	G>R		No	ClinGen gnomAD
CA1360966 rs781854281	857	L>R		No	ClinGen ExAC gnomAD
rs1572209963 CA344458281	859	S>N		No	ClinGen Ensembl
CA344458295 rs1553379317	860	S>F		No	ClinGen gnomAD
CA344458326 rs1347826976	863	D>G		No	ClinGen TOPMed
rs1553379330 CA344458332	864	S>A		No	ClinGen gnomAD
rs1287329486 CA344458335	864	S>F		No	ClinGen TOPMed gnomAD
rs1287329486 CA344458333	864	S>Y		No	ClinGen TOPMed gnomAD
rs1553379339 CA344458341	865	S>Y		No	ClinGen Ensembl
rs1242463825 CA344458347	866	S>F		No	ClinGen TOPMed gnomAD
CA1360969 rs781836125	867	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1553379344 CA344458350	867	P>S		No	ClinGen gnomAD
CA344458353 rs1553379345	868	G>W		No	ClinGen gnomAD
CA1360970 rs566770978	869	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA344458369 rs1396827085	870	G>E		No	ClinGen TOPMed gnomAD
rs782586714 CA1360971	872	S>G		No	ClinGen ExAC gnomAD
CA1360972 rs375839614	874	R>C		No	ClinGen ESP ExAC gnomAD
VAR_055834 rs17018890	874	R>G		No	UniProt dbSNP
rs369067137 CA1360973	874	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1572210225 CA344458400	875	P>L		No	ClinGen Ensembl
CA344458421 rs1374818752	879	P>T		No	ClinGen TOPMed gnomAD
CA1360976 rs782346878	880	I>M		No	ClinGen ExAC gnomAD
CA1360975 rs201372620	880	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA344458450 rs1553379418	883	Q>E		No	ClinGen gnomAD
rs975042106 CA36524293	883	Q>H		No	ClinGen Ensembl
rs528938907 CA1360977	885	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA344458479 rs1553379438	887	K>R		No	ClinGen gnomAD
CA1360979 rs377016252	889	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344458492 rs1361557172	889	G>R		No	ClinGen TOPMed
CA1360978 rs377016252	889	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344458514 rs1424053337	892	K>R		No	ClinGen TOPMed gnomAD
rs782029118 CA1360980	893	C>R		No	ClinGen ExAC TOPMed gnomAD
rs782112538 CA1360981	896	S>G		No	ClinGen ExAC gnomAD
rs781945701 CA1360983	897	G>E		No	ClinGen ExAC TOPMed gnomAD
rs370966048 CA36524343	898	H>D		No	ClinGen ESP TOPMed gnomAD
rs370966048 CA344458550	898	H>Y		No	ClinGen ESP TOPMed gnomAD
rs201642341 CA1360985	899	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201642341 CA344458557	899	G>W		No	ClinGen ExAC TOPMed gnomAD
CA1360987 rs782145300	901	L>F		No	ClinGen ExAC gnomAD
rs781857554 CA344458578	902	N>I		No	ClinGen ExAC gnomAD
rs781857554 CA1360989	902	N>S		No	ClinGen ExAC gnomAD
rs1553379478 CA344458594	904	I>T		No	ClinGen gnomAD
rs782524903 CA1360990	904	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1360991 rs553049915	906	R>C		No	ClinGen ExAC gnomAD
CA1360992 rs568887983	906	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344458624 rs1553379490	907	H>Q		No	ClinGen gnomAD
CA1360993 rs782438560	907	H>R		No	ClinGen ExAC gnomAD
CA36524410 rs937040513	909	S>F		No	ClinGen gnomAD
rs782601158 CA1360994	911	K>N		No	ClinGen ExAC gnomAD
CA344458665 rs373165643	913	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373165643 CA1360996	913	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1360995 rs537911400	913	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344458677 rs782210132	915	D>A		No	ClinGen ExAC gnomAD
CA1360998 rs782210132	915	D>G		No	ClinGen ExAC gnomAD
rs1553379509 CA344458674	915	D>N		No	ClinGen gnomAD
CA344458682 rs1553379515	916	S>G		No	ClinGen gnomAD
rs782357195 CA1360999	916	S>R		No	ClinGen ExAC gnomAD
rs1553379522 CA344458719	919	I>L		No	ClinGen gnomAD
CA1361002 rs782401043	920	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361001 rs570977025	920	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1457940830 CA344458759	922	T>I		No	ClinGen TOPMed
CA344459241 rs1553379534	923	A>V		No	ClinGen gnomAD
rs1369887225 CA344459250	924	T>I		No	ClinGen TOPMed gnomAD
CA1361003 rs782035100	925	A>V		No	ClinGen ExAC gnomAD
rs1553379544 CA344459269	926	G>E		No	ClinGen gnomAD
CA344459285 rs1553379548	927	R>S		No	ClinGen gnomAD
CA344459291 rs1572210779	928	S>A		No	ClinGen Ensembl
CA344459321 rs1572210782	931	F>V		No	ClinGen Ensembl
rs568447589 CA344459375	935	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568447589 CA1361005	935	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344459373 rs1475122037	935	R>W		No	ClinGen TOPMed gnomAD
rs781961814 CA1361006	936	P>S		No	ClinGen ExAC gnomAD
rs782705518 CA1361008	937	M>T		No	ClinGen ExAC gnomAD
CA1361009 rs781814693	938	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1261597860 CA344459410	939	P>S		No	ClinGen TOPMed
rs1553379593 CA344459443	943	A>T		No	ClinGen gnomAD
rs782555219 CA1361010	943	A>V		No	ClinGen ExAC gnomAD
CA1361030 rs782738714	945	D>G		No	ClinGen ExAC gnomAD
rs564689449 CA1361031	949	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1361032 rs527397324	950	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344459557 rs1423679644	950	M>V		No	ClinGen TOPMed gnomAD
rs370250383 CA1361033	951	N>T		No	ClinGen ESP ExAC TOPMed
CA1361034 rs781890702	952	S>L		No	ClinGen ExAC TOPMed gnomAD
rs781874765 CA1361037	958	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781874765 CA344459610	958	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361036 rs368662127	958	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA344459627 rs1553380397	961	E>*		No	ClinGen gnomAD
CA1361040 rs782189313	962	R>Q		No	ClinGen ExAC gnomAD
CA1361039 rs560648736	962	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553380417 CA344459644	964	S>G		No	ClinGen gnomAD
rs368388712 CA1361042	964	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361043 rs782241683	965	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1361044 rs782388546	965	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1012225932 CA36525731	967	K>E		No	ClinGen Ensembl
rs1441098562 CA344459684	970	P>S		No	ClinGen TOPMed
CA1361048 rs200308937	972	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1361047 rs200308937	972	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344459713 rs1374107094	975	D>N		No	ClinGen TOPMed
CA344459718 rs1553380453	975	D>V		No	ClinGen gnomAD
rs781860018 CA1361051	977	L>V		No	ClinGen ExAC gnomAD
rs1553380465 CA344459743	979	P>A		No	ClinGen gnomAD
rs569563902 CA1361052	979	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs977558888 CA36525771	981	K>R		No	ClinGen Ensembl
CA344459760 rs1572215846	982	T>P		No	ClinGen Ensembl
rs782746884 CA1361053	983	S>F		No	ClinGen ExAC gnomAD
CA1361054 rs531883192	984	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA344459782 rs1389857045	984	P>Q		No	ClinGen TOPMed gnomAD
rs1553380489 CA344459786	985	V>L		No	ClinGen gnomAD
rs1553380489 CA344459785	985	V>M		No	ClinGen gnomAD
CA344459799 rs1553380500	986	V>A		No	ClinGen gnomAD
rs1553380504 CA344459806	987	A>V		No	ClinGen gnomAD
CA1361057 rs191430839	989	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376636227 CA1361060	992	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361061 rs376636227	992	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361063 rs116377172	993	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1296148845 CA344459847	993	S>Y		No	ClinGen TOPMed gnomAD
CA344459858 rs1553380522	994	S>N		No	ClinGen gnomAD
rs1553380528 CA344459875	995	P>L		No	ClinGen gnomAD
rs373261411 CA1361065	998	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs373261411 CA1361066	998	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344459931 rs1386540353	1002	K>E		No	ClinGen TOPMed
rs1572216141 CA344459947	1003	D>A		No	ClinGen Ensembl
rs782391090 CA1361067	1004	P>L		No	ClinGen ExAC TOPMed gnomAD
rs567746303 CA1361069	1005	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344459990 rs536473733	1007	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536473733 CA1361070	1007	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553380551 CA344459994	1007	A>V		No	ClinGen gnomAD
CA344460008 rs1376104745	1008	F>L		No	ClinGen TOPMed
rs1572216240 CA344460020	1009	Q>H		No	ClinGen Ensembl
rs371631914 CA1361071	1010	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1361072 rs782121714	1010	R>H		No	ClinGen ExAC gnomAD
rs782121714 CA1361073	1010	R>L		No	ClinGen ExAC gnomAD
rs1553380561 CA344460037	1011	S>N		No	ClinGen gnomAD
CA344460040 rs1553380561	1011	S>T		No	ClinGen gnomAD
CA1361075 rs782463648	1012	A>T		No	ClinGen ExAC TOPMed gnomAD
CA36525928 rs782175487	1013	S>N		No	ClinGen Ensembl
rs1553380571 CA344460086	1014	T>S		No	ClinGen gnomAD
CA1361076 rs782705349	1015	A>S		No	ClinGen ExAC gnomAD
rs782705349 CA344460090	1015	A>T		No	ClinGen ExAC gnomAD
CA1361077 rs781843395	1015	A>V		No	ClinGen ExAC gnomAD
CA344460144 rs1432374451	1018	I>M		No	ClinGen TOPMed
CA1361078 rs768423173	1018	I>V		No	ClinGen ExAC gnomAD
rs576299895 CA1361079	1019	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376568668 CA344460167	1020	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs141859199 CA344460171	1021	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141859199 CA1361081	1021	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344460202 rs1553380601	1022	F>L		No	ClinGen gnomAD
rs782196124 CA1361083	1023	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361082 rs782667706	1023	R>W		No	ClinGen ExAC gnomAD
rs1336732547 CA344460243	1026	K>N		No	ClinGen TOPMed
CA1361085 rs540297531	1028	V>I		No	ClinGen ExAC gnomAD
rs782388745 CA1361087	1030	M>V		No	ClinGen ExAC gnomAD
rs781977173 CA344460296	1032	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781977173 CA1361088	1032	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1361091 rs529279119	1033	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782153510 CA1361089	1033	P>S		No	ClinGen ExAC gnomAD
rs782153510 CA1361090	1033	P>T		No	ClinGen ExAC gnomAD
rs1572216534 CA344460321	1034	V>G		No	ClinGen Ensembl
rs1049520202 CA36526032	1034	V>I		No	ClinGen TOPMed gnomAD
CA344460312 rs1049520202	1034	V>L		No	ClinGen TOPMed gnomAD
CA1361094 rs781875036	1036	P>L		No	ClinGen ExAC gnomAD
rs1553380662 CA344460366	1037	P>S		No	ClinGen gnomAD
rs782819407 CA1361097	1040	R>G		No	ClinGen ExAC gnomAD
CA1361098 rs782452308	1040	R>Q		No	ClinGen ExAC gnomAD
rs782819407 CA1361096	1040	R>W		No	ClinGen ExAC gnomAD
rs782228393 CA1361100	1041	P>H		No	ClinGen ExAC gnomAD
CA344460435 rs1454446917	1043	P>S		No	ClinGen TOPMed
rs1553380682 CA344460445	1044	T>A		No	ClinGen gnomAD
CA344460456 rs1364182173	1045	V>I		No	ClinGen TOPMed gnomAD
CA1361101 rs782464656	1048	K>R		No	ClinGen ExAC TOPMed gnomAD
CA344460562 rs1553380692	1051	A>V		No	ClinGen gnomAD
CA344460567 rs1471592263	1052	T>I		No	ClinGen TOPMed gnomAD
rs797043309 CA344460589	1054	P>S		No	ClinGen Ensembl
rs1553380698 CA344460601	1055	G>D		No	ClinGen gnomAD
CA1361103 rs782236643	1057	N>H		No	ClinGen ExAC gnomAD
rs1188116582 CA344460615	1057	N>S		No	ClinGen TOPMed
CA344460629 rs1553380713	1058	S>P		No	ClinGen gnomAD
CA344460662 rs1443637391	1060	T>A		No	ClinGen TOPMed
rs782182654 CA1361106	1062	P>L		No	ClinGen ExAC gnomAD
CA344460709 rs1553380727	1063	Q>*		No	ClinGen gnomAD
rs1553380734 CA344460737	1065	T>A		No	ClinGen gnomAD
rs371240334 CA1361109	1069	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs782764709 CA1361110	1069	C>S		No	ClinGen ExAC TOPMed gnomAD
CA344460810 rs1350473231	1069	C>W		No	ClinGen TOPMed
rs782764709 CA344460805	1069	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1553380747 CA344460817	1070	T>A		No	ClinGen gnomAD
rs376240259 CA1361111	1071	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA344460835 rs1553380750	1072	V>R		No	ClinGen gnomAD

1 associated diseases with O75044

Without disease ID

3 regional properties for O75044

Type	Name	Position	InterPro Accession
domain	Fumarase C, C-terminal	446 - 498	IPR018951
conserved_site	Fumarate lyase, conserved site	355 - 364	IPR020557
domain	Fumarate lyase, N-terminal	49 - 380	IPR022761

Functions

		Description
EC Number
Subcellular Localization	Cell membrane Cell projection, dendritic spine Postsynaptic density Postsynaptic cell membrane Cell projection, lamellipodium Cytoplasmic vesicle, phagosome Nucleus Cytoplasm, cytosol	Recruited to actin-rich phagosomes during phagocytosis (By similarity) Translocates from nucleus to cytoplasm during development (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine head	Distal part of the dendritic spine, that carries the post-synaptic density.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.

4 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
identical protein binding	Binding to an identical protein or proteins.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
small GTPase binding	Binding to a small monomeric GTPase.

14 GO annotations of biological process

Name	Definition
actin filament severing	The process in which an actin filament is broken down into smaller filaments.
dendritic spine development	The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
excitatory synapse assembly	The aggregation, arrangement and bonding together of a set of components to form an excitatory synapse.
extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration	The rearrangements of the microtubule cytoskeleton that result in the extension of a leading process, where this process is involved in the movement of cells along radial glial cells.
filopodium assembly	The assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
inhibitory synapse assembly	The aggregation, arrangement and bonding together of a set of components to form an inhibitory synapse.
lamellipodium assembly involved in ameboidal cell migration	Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell that contributes to the directed self propelled movement of a cell.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of neuron migration	Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5T0N5	FNBP1L	Formin-binding protein 1-like	Homo sapiens (Human)	PR
O94868	FCHSD2	F-BAR and double SH3 domains protein 2	Homo sapiens (Human)	PR
Q96RU3	FNBP1	Formin-binding protein 1	Homo sapiens (Human)	PR
Q7Z6B7	SRGAP1	SLIT-ROBO Rho GTPase-activating protein 1	Homo sapiens (Human)	PR
Q8CJ53	Trip10	Cdc42-interacting protein 4	Mus musculus (Mouse)	PR
Q91Z69	Srgap1	SLIT-ROBO Rho GTPase-activating protein 1	Mus musculus (Mouse)	PR
Q3USJ8	Fchsd2	F-BAR and double SH3 domains protein 2	Mus musculus (Mouse)	PR
Q6PFY1	Fchsd1	F-BAR and double SH3 domains protein 1	Mus musculus (Mouse)	PR
Q812A2	Srgap3	SLIT-ROBO Rho GTPase-activating protein 3	Mus musculus (Mouse)	PR
Q80TY0	Fnbp1	Formin-binding protein 1	Mus musculus (Mouse)	PR
Q8K012	Fnbp1l	Formin-binding protein 1-like	Mus musculus (Mouse)	PR
Q91Z67	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Mus musculus (Mouse)	PR
Q8R511	Fnbp1	Formin-binding protein 1	Rattus norvegicus (Rat)	PR
Q2HWF0	Fnbp1l	Formin-binding protein 1-like	Rattus norvegicus (Rat)	PR
D4A208	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTSPAKFKKD	KEIIAEYDTQ	VKEIRAQLTE	QMKCLDQQCE	LRVQLLQDLQ	DFFRKKAEIE
70	80	90	100	110	120
MDYSRNLEKL	AERFLAKTRS	TKDQQFKKDQ	NVLSPVNCWN	LLLNQVKRES	RDHTTLSDIY
130	140	150	160	170	180
LNNIIPRFVQ	VSEDSGRLFK	KSKEVGQQLQ	DDLMKVLNEL	YSVMKTYHMY	NADSISAQSK
190	200	210	220	230	240
LKEAEKQEEK	QIGKSVKQED	RQTPRSPDST	ANVRIEEKHV	RRSSVKKIEK	MKEKRQAKYT
250	260	270	280	290	300
ENKLKAIKAR	NEYLLALEAT	NASVFKYYIH	DLSDLIDQCC	DLGYHASLNR	ALRTFLSAEL
310	320	330	340	350	360
NLEQSKHEGL	DAIENAVENL	DATSDKQRLM	EMYNNVFCPP	MKFEFQPHMG	DMASQLCAQQ
370	380	390	400	410	420
PVQSELVQRC	QQLQSRLSTL	KIENEEVKKT	MEATLQTIQD	IVTVEDFDVS	DCFQYSNSME
430	440	450	460	470	480
SVKSTVSETF	MSKPSIAKRR	ANQQETEQFY	FTKMKEYLEG	RNLITKLQAK	HDLLQKTLGE
490	500	510	520	530	540
SQRTDCSLAR	RSSTVRKQDS	SQAIPLVVES	CIRFISRHGL	QHEGIFRVSG	SQVEVNDIKN
550	560	570	580	590	600
AFERGEDPLA	GDQNDHDMDS	IAGVLKLYFR	GLEHPLFPKD	IFHDLMACVT	MDNLQERALH
610	620	630	640	650	660
IRKVLLVLPK	TTLIIMRYLF	AFLNHLSQFS	EENMMDPYNL	AICFGPSLMS	VPEGHDQVSC
670	680	690	700	710	720
QAHVNELIKT	IIIQHENIFP	SPRELEGPVY	SRGGSMEDYC	DSPHGETTSV	EDSTQDVTAE
730	740	750	760	770	780
HHTSDDECEP	IEAIAKFDYV	GRTARELSFK	KGASLLLYQR	ASDDWWEGRH	NGIDGLIPHQ
790	800	810	820	830	840
YIVVQDTEDG	VVERSSPKSE	IEVISEPPEE	KVTARAGASC	PSGGHVADIY	LANINKQRKR
850	860	870	880	890	900
PESGSIRKTF	RSDSHGLSSS	LTDSSSPGVG	ASCRPSSQPI	MSQSLPKEGP	DKCSISGHGS
910	920	930	940	950	960
LNSISRHSSL	KNRLDSPQIR	KTATAGRSKS	FNNHRPMDPE	VIAQDIEATM	NSALNELREL
970	980	990	1000	1010	1020
ERQSSVKHTP	DVVLDTLEPL	KTSPVVAPTS	EPSSPLHTQL	LKDPEPAFQR	SASTAGDIAC
1030	1040	1050	1060	1070
AFRPVKSVKM	AAPVKPPATR	PKPTVFPKTN	ATSPGVNSST	SPQSTDKSCT	V