AiPD: Autoinhibited Protein Database

Q8TDZ2

Gene name	MICAL1 (MICAL, NICAL)
Protein name	[F-actin]-monooxygenase MICAL1
Names	Molecule interacting with CasL protein 1, MICAL-1, NEDD9-interacting protein with calponin homology and LIM domains
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64780
EC number	1.6.3.1: With oxygen as acceptor
Protein Class	CALPONIN HOMOLOGY DOMAIN-CONTAINING PROTEIN DDB_G0272472-RELATED (PTHR23167)

Descriptions

MICAL1 is monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide. The C-terminal domain of MICAL1 inhibits its enzymatic activity. Plexin binding to the C terminus disrupts the interaction of MICAL1 C terminus with the enzymatic domain, releasing autoinhibition and leading to the activation of the monooxygenase activity.

Autoinhibitory domains (AIDs)

Target domain	1-489 (FAD-binding domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

761-1048 (C-terminal autoinhibitory region)

Target domain

1-489 (FAD-binding domain)

Relief mechanism

Partner binding (Plexin or CRMP binding at the C-terminal region of MICAL1)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Schmidt EF et al. (2008) "Release of MICAL autoinhibition by semaphorin-plexin signaling promotes interaction with collapsin response mediator protein", The Journal of neuroscience : the official journal of the Society for Neuroscience, 28, 2287-97

Autoinhibited structure

Activated structure

8 structures for Q8TDZ2

Entry ID	Method	Resolution	Chain	Position	Source
1WYL	NMR	-	A	510-612	PDB
2CO8	NMR	-	A	687-755	PDB
2DK9	NMR	-	A	506-614	PDB
5LE0	X-ray	330 A	B	918-1067	PDB
5LPN	X-ray	280 A	B	918-1067	PDB
6KU0	X-ray	160 A	B/D	799-822	PDB
8HLO	X-ray	117 A	C	828-836	PDB
AF-Q8TDZ2-F1	Predicted				AlphaFoldDB

992 variants for Q8TDZ2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1775493179 RCV001328782	341	A>T	Epilepsy, familial temporal lobe, 1 [ClinVar]	Yes	ClinVar dbSNP
rs755137933 CA3952886 RCV001328783	821	L>P	Epilepsy, familial temporal lobe, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs755953337 CA3953914	2	A>S		No	ClinGen ExAC gnomAD
CA365234604 rs755953337	2	A>T		No	ClinGen ExAC gnomAD
CA3953913 rs375065423	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953912 rs767144215	4	P>L		No	ClinGen ExAC gnomAD
rs1582654297 CA365234577	5	T>P		No	ClinGen Ensembl
CA3953909 rs751047391	6	S>F		No	ClinGen ExAC gnomAD
rs1451510453 CA365234537	7	T>I		No	ClinGen gnomAD
CA365234501 rs201945561	10	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365234512 rs1251425750	10	A>T		No	ClinGen gnomAD
rs201945561 CA3953908	10	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953906 rs773901018	11	H>R		No	ClinGen ExAC gnomAD
VAR_067063 CA3953905 VAR_050153 rs4946977	12	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365234383 rs1340008299	16	S>N		No	ClinGen gnomAD
rs1228561355 CA365234359	17	F>Y		No	ClinGen gnomAD
RCV000903282 rs576067341 CA3953903	19	Q>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1403649763 CA365234284	21	Q>*		No	ClinGen TOPMed
rs747062443 CA3953901	21	Q>H		No	ClinGen ExAC gnomAD
rs768771999 CA3953902	21	Q>P		No	ClinGen ExAC gnomAD
CA3953900 rs149065565	24	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs749201661 CA3953898	26	V>G		No	ClinGen ExAC gnomAD
COSM1257697 CA3953899 rs144928591	26	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA145123493 rs941567539	28	S>N		No	ClinGen TOPMed gnomAD
rs200957870 CA3953896	31	Q>*		No	ClinGen 1000Genomes ExAC TOPMed
CA3953895 rs747902808	34	C>Y		No	ClinGen ExAC gnomAD
CA3953894 rs780842261	36	A>T		No	ClinGen ExAC gnomAD
CA365234057 rs1200757754	38	G>E		No	ClinGen gnomAD
rs908711034 CA145123476	38	G>R		No	ClinGen TOPMed gnomAD
rs1274755668 CA365234039	40	E>*		No	ClinGen TOPMed
CA365234032 rs1490030501	40	E>D		No	ClinGen TOPMed
rs1343755526 CA365234012	42	G>D		No	ClinGen gnomAD
rs779685769 CA3953891	42	G>S		No	ClinGen ExAC gnomAD
rs934055292 CA145123466	43	G>E		No	ClinGen TOPMed
CA3953890 rs758036265	43	G>R		No	ClinGen ExAC TOPMed gnomAD
CA365234007 rs758036265	43	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1347391674 CA365233929	49	H>R		No	ClinGen gnomAD
rs1412236853 CA365233869	54	Q>E		No	ClinGen gnomAD
CA3953886 rs754174729	54	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3953884 rs546425501	57	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1178281980 CA365233847	57	Y>S		No	ClinGen gnomAD
CA365233834 rs1471523513	58	W>C		No	ClinGen gnomAD
rs1410552326 CA365233823	60	A>S		No	ClinGen gnomAD
rs773666917 CA3953882	61	K>E		No	ClinGen ExAC TOPMed gnomAD
CA365233814 rs1481579931	61	K>N		No	ClinGen TOPMed gnomAD
rs759680902 CA3953881	62	S>L		No	ClinGen ExAC
CA365233781 rs1230191552	66	K>N		No	ClinGen TOPMed
CA365233776 rs1235205232	67	L>P		No	ClinGen gnomAD
CA3953879 rs769740170	68	D>E		No	ClinGen ExAC TOPMed gnomAD
rs773068171 CA3953880	68	D>G		No	ClinGen ExAC gnomAD
rs1047913838 CA145123424	68	D>N		No	ClinGen gnomAD
rs1280348856 CA365233767	69	K>E		No	ClinGen TOPMed gnomAD
rs1280348856 CA365233768	69	K>Q		No	ClinGen TOPMed gnomAD
CA3953878 rs780884784	70	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3953876 rs565842929	70	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953875 rs565842929	70	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953874 rs779915041	71	A>V		No	ClinGen ExAC TOPMed gnomAD
rs757913471 CA3953873	72	G>A		No	ClinGen ExAC gnomAD
rs779511840 CA365233743	73	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs749965951 CA3953872	73	Q>R		No	ClinGen ExAC gnomAD
rs1434499440 CA365233741	74	P>A		No	ClinGen TOPMed gnomAD
rs754409202 CA3953869	76	Y>C		No	ClinGen ExAC
rs202062857 CA3953870	76	Y>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953867 rs372479975	80	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318850220 CA365233701	80	R>W		No	ClinGen gnomAD
rs911893892 CA145123360	81	A>T		No	ClinGen Ensembl
CA3953864 rs767733510	82	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs187417837 CA3953862	83	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187417837 CA3953861	83	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953859 rs141098491	84	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953860 rs141098491	84	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768328420 CA3953858	85	T>N		No	ClinGen ExAC gnomAD
rs369162425 CA3953857	86	K>E		No	ClinGen ESP ExAC gnomAD
CA365233650 rs1222871854	87	C>G		No	ClinGen gnomAD
CA3953839 rs547676556	89	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775454978 CA3953837	90	V>M		No	ClinGen ExAC gnomAD
CA365233626 rs1383053162	91	G>D		No	ClinGen gnomAD
CA365233612 rs1300182648	93	G>V		No	ClinGen gnomAD
CA3953836 rs772032931	94	P>L		No	ClinGen ExAC gnomAD
CA365233604 rs1562293733	95	C>G		No	ClinGen Ensembl
rs147861991 CA145123275	95	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs770343830 CA3953833	96	G>E		No	ClinGen ExAC gnomAD
CA3953834 rs200052023	96	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953831 rs778086767	97	L>P		No	ClinGen ExAC gnomAD
rs755389348 CA3953827	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3953828 rs200600122	98	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA3953825 rs766624792	100	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3953826 rs766624792	100	A>T		No	ClinGen ExAC TOPMed gnomAD
CA145123237 rs1039257373	100	A>V		No	ClinGen Ensembl
CA365233567 rs1256857911	102	E>D		No	ClinGen TOPMed
CA3953823 rs750535997	102	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs763896762 CA3953822	104	A>T		No	ClinGen ExAC gnomAD
CA3953821 rs760656869	104	A>V		No	ClinGen ExAC TOPMed gnomAD
CA145123209 rs749155086	105	L>M		No	ClinGen Ensembl
CA3953818 rs201447051	106	L>P		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA365233550 rs201447051	106	L>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs773809457 CA3953817	107	G>R		No	ClinGen ExAC gnomAD
CA365233542 rs1347312743	108	A>D		No	ClinGen gnomAD
rs150984265 CA3953816	108	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371395333 CA3953814	109	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA365233538 rs201163092	109	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953813 rs201163092	109	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA365233529 rs1409143022	111	V>L		No	ClinGen TOPMed gnomAD
rs1409143022 CA365233530	111	V>M		No	ClinGen TOPMed gnomAD
CA3953810 rs577273855	116	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953809 rs144411949	116	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365233495 rs144411949	116	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582653156 CA365233493	117	T>P		No	ClinGen Ensembl
rs1481662665 CA365233474	119	F>C		No	ClinGen gnomAD
CA3953808 rs747384815	120	S>F		No	ClinGen ExAC TOPMed gnomAD
rs540868259 CA3953807	121	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953805 rs374536962	121	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374536962 CA3953806	121	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA145123135 rs61739571	122	H>Q		No	ClinGen Ensembl
rs199816639 CA3953804	123	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA145123122 rs148753099	123	N>S		No	ClinGen ESP gnomAD
rs1256879195 CA365233450	124	V>M		No	ClinGen gnomAD
rs1204040709 CA365233435	126	H>P		No	ClinGen gnomAD
CA365233436 rs1582653087	126	H>Y		No	ClinGen Ensembl
rs1228399114 CA365233429	127	L>F		No	ClinGen gnomAD
CA365233417 rs1276882639	128	W>*		No	ClinGen TOPMed
rs752677129 CA3953801	129	P>L		No	ClinGen ExAC gnomAD
CA3953800 rs767568317	130	F>C		No	ClinGen ExAC gnomAD
rs1582653044 CA365233402	131	T>P		No	ClinGen Ensembl
rs751394406 CA3953798	133	H>D		No	ClinGen ExAC gnomAD
CA3953796 rs762638415	134	D>N		No	ClinGen ExAC TOPMed gnomAD
CA365233375 rs1401048967	135	L>V		No	ClinGen gnomAD
rs769284182 CA3953794	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3953795 rs772793278	136	R>W		No	ClinGen ExAC TOPMed gnomAD
CA145123067 rs977278650	138	L>F		No	ClinGen TOPMed
CA3953792 rs777061783	139	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1025994899 CA145123048	140	A>T		No	ClinGen Ensembl
rs368705889 CA3953790	142	K>R		No	ClinGen ESP ExAC gnomAD
rs374180244 CA3953789	144	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374180244 CA365233320	144	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953787 rs746088815	145	G>R		No	ClinGen ExAC gnomAD
CA365233310 rs1562293479	146	R>C		No	ClinGen Ensembl
CA145123024 rs1016519892	146	R>H		No	ClinGen TOPMed gnomAD
CA365233296 rs1438518487	148	C>Y		No	ClinGen TOPMed
rs753980690 CA3953784	149	T>I		No	ClinGen ExAC gnomAD
CA3953785 rs376425371	149	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA145123006 rs754999747	150	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3953782 rs754999747	150	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3953783 rs781228195	150	G>S		No	ClinGen ExAC TOPMed gnomAD
CA145123004 rs887334917	151	T>I		No	ClinGen TOPMed
CA365233280 rs887334917	151	T>N		No	ClinGen TOPMed
rs576080794 CA3953781	152	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA145122997 rs34726911 VAR_050154	153	D>A		No	ClinGen UniProt Ensembl dbSNP
rs766177194 CA3953780	153	D>E		No	ClinGen ExAC TOPMed gnomAD
CA365233267 rs1320267986	154	H>Y		No	ClinGen gnomAD
CA3953779 rs758188313	155	I>V		No	ClinGen ExAC gnomAD
CA3953777 rs764879124	156	S>G		No	ClinGen ExAC TOPMed gnomAD
rs776060838 CA3953755	156	S>R		No	ClinGen ExAC gnomAD
rs767966652 CA3953754	157	I>M		No	ClinGen ExAC gnomAD
rs774894411 CA3953752	160	L>F		No	ClinGen ExAC gnomAD
CA365233216 rs774894411	160	L>I		No	ClinGen ExAC gnomAD
CA3953751 rs374965648	162	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953750 rs139385529	166	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773578067 CA3953749	168	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766208207 CA3953748	169	L>W		No	ClinGen ExAC gnomAD
CA145122765 rs202134835	170	L>V		No	ClinGen Ensembl
rs1562293186 CA365233140	173	V>A		No	ClinGen Ensembl
CA365233130 rs1427602066	175	I>L		No	ClinGen TOPMed
CA145122761 rs890583272	175	I>M		No	ClinGen Ensembl
rs780023555 CA3953746	177	W>C		No	ClinGen ExAC gnomAD
CA3953745 rs745840649	178	G>D		No	ClinGen ExAC gnomAD
rs745840649 CA3953744	178	G>V		No	ClinGen ExAC gnomAD
CA3953743 rs778632371	179	V>G		No	ClinGen ExAC gnomAD
CA3953741 rs753423130	181	F>L		No	ClinGen ExAC gnomAD
rs371786177 CA145122732	183	G>S		No	ClinGen Ensembl
rs1369954906 CA365233073	184	L>F		No	ClinGen gnomAD
CA365233071 rs1329659408	184	L>P		No	ClinGen gnomAD
CA3953740 rs762703272	186	P>L		No	ClinGen ExAC gnomAD
rs1423371236 CA365233053	187	P>R		No	ClinGen gnomAD
CA3953739 rs755636712	188	P>S		No	ClinGen ExAC TOPMed gnomAD
CA145122721 rs529855548	189	R>S		No	ClinGen gnomAD
rs752424516 CA3953710	193	G>A		No	ClinGen ExAC gnomAD
rs1285966304 CA365233006	193	G>S		No	ClinGen gnomAD
CA3953709 rs201545668	195	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3953708 rs201545668	195	R>G		No	ClinGen ExAC TOPMed gnomAD
rs34699467 VAR_067064 CA3953707	195	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365232991 rs34699467	195	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953705 rs763393041	196	A>G		No	ClinGen ExAC
rs1283702635 CA365232989	196	A>T		No	ClinGen TOPMed gnomAD
CA3953703 rs765668750	197	Q>P		No	ClinGen ExAC
rs1299930849 CA365232975	198	L>P		No	ClinGen TOPMed
CA3953702 rs370169875	198	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953701 rs776928366	199	Q>P		No	ClinGen ExAC gnomAD
rs776928366 CA365232969	199	Q>R		No	ClinGen ExAC gnomAD
CA3953699 rs760813009	200	P>H		No	ClinGen ExAC gnomAD
rs760813009 CA365232963	200	P>R		No	ClinGen ExAC gnomAD
COSM1071988 rs768553414 CA3953700	200	P>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
rs141936559 CA3953698	201	N>S		No	ClinGen ESP ExAC gnomAD
rs1344522893 CA365232952	202	P>A		No	ClinGen TOPMed gnomAD
rs1344522893 CA365232954	202	P>S		No	ClinGen TOPMed gnomAD
rs770905249 CA3953695	204	A>V		No	ClinGen ExAC gnomAD
rs1324005685 CA365232935	205	Q>*		No	ClinGen TOPMed
rs1159068347 CA365232917	208	N>D		No	ClinGen TOPMed gnomAD
CA3953694 rs749051271	208	N>S		No	ClinGen ExAC gnomAD
rs1159068347 CA365232916	208	N>Y		No	ClinGen TOPMed gnomAD
rs1014031119 CA145122310	209	Y>C		No	ClinGen TOPMed gnomAD
CA3953693 rs777389612	209	Y>N		No	ClinGen ExAC gnomAD
rs148014339 CA3953692	211	F>S		No	ClinGen ESP ExAC
CA3953691 rs747694458	212	D>N		No	ClinGen ExAC TOPMed gnomAD
rs754526970 CA3953689	213	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1180749692 CA365232874	214	L>P		No	ClinGen TOPMed
rs1320460578 CA365232867	215	I>M		No	ClinGen gnomAD
rs780679824 CA3953687	215	I>V		No	ClinGen ExAC gnomAD
rs1289209410 CA365232861	216	S>L		No	ClinGen gnomAD
rs888286474 CA145122277	217	A>G		No	ClinGen TOPMed gnomAD
CA3953685 rs561825012	217	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365232847 rs765464483	219	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3953684 rs765464483	219	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3953682 rs141863174	220	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953683 rs757647106	220	G>S		No	ClinGen ExAC gnomAD
rs373999367 CA145122271	221	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953681 rs373999367	221	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953680 rs113630183	223	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1562292621 CA365232793	226	G>D		No	ClinGen Ensembl
rs1424808997 CA365232807	226	G>R		No	ClinGen gnomAD
CA365232778 rs1481065113	228	K>R		No	ClinGen gnomAD
rs776450333 CA3953652	229	V>I		No	ClinGen ExAC gnomAD
CA145122173 rs769177141	230	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3953651 rs769177141	230	R>G		No	ClinGen ExAC TOPMed gnomAD
CA365232769 rs746605594	230	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3953650 rs746605594	230	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA365232755 rs1282430896	232	M>T		No	ClinGen TOPMed gnomAD
CA3953649 rs375429113	233	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs202149922 CA3953647	233	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779266716 CA3953646	234	G>D		No	ClinGen ExAC gnomAD
CA3953645 rs771509547	236	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1373588011 CA365232727	237	A>V		No	ClinGen gnomAD
rs778062132 CA3953643	238	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3953644 rs145716564	238	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1071986 rs1386391874 CA365232712	240	I>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1177630036 CA365232702	241	T>R		No	ClinGen gnomAD
rs752848248 CA3953641	242	A>D		No	ClinGen ExAC
rs781457382 CA3953640	243	N>S		No	ClinGen ExAC gnomAD
CA145122143 rs981936471	244	F>L		No	ClinGen gnomAD
rs754997264 CA3953639	244	F>V		No	ClinGen ExAC TOPMed gnomAD
CA365232682 rs1218220302	245	V>M		No	ClinGen TOPMed
rs765050322 CA3953637	246	N>D		No	ClinGen ExAC gnomAD
rs761764223 CA3953636	248	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368438268 CA3953635	248	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365232654 rs1427438929	249	T>I		No	ClinGen gnomAD
rs373919749 CA3953633	250	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA145122139 rs897767450	251	E>G		No	ClinGen Ensembl
CA365232641 rs1258950598	252	E>K		No	ClinGen gnomAD
CA3953632 rs775269055	255	V>M		No	ClinGen ExAC gnomAD
rs145076352 CA3953630	256	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953631 rs771902129	256	P>S		No	ClinGen ExAC gnomAD
rs1233175234 CA365232609	257	E>Q		No	ClinGen TOPMed
CA365232591 rs1190943252	259	S>T		No	ClinGen gnomAD
rs749746161 CA3953627	260	G>S		No	ClinGen ExAC gnomAD
rs778256042 CA3953626	260	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1365557452 CA365232576	262	A>P		No	ClinGen gnomAD
CA365232574 rs1162823714	262	A>V		No	ClinGen gnomAD
CA365232568 rs1435469660	263	R>T		No	ClinGen TOPMed
CA3953625 rs770136723	264	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748567166 CA3953624	266	N>K		No	ClinGen ExAC TOPMed gnomAD
rs755264344 CA3953623	268	S>R		No	ClinGen ExAC gnomAD
CA365232523 rs1259406571	269	F>C		No	ClinGen gnomAD
CA365232522 rs1204441106	269	F>L		No	ClinGen gnomAD
rs751755331 CA3953621	272	S>R		No	ClinGen ExAC gnomAD
CA365232497 rs1261949117	273	L>I		No	ClinGen gnomAD
rs1243198169 CA365232489	274	L>F		No	ClinGen gnomAD
rs535329152 CA3953585	279	I>T		No	ClinGen ExAC gnomAD
rs1562292076 CA365232431	281	L>P		No	ClinGen Ensembl
rs777013169 CA3953584	281	L>V		No	ClinGen ExAC gnomAD
rs769063535 CA3953583	282	E>K		No	ClinGen ExAC gnomAD
CA145121830 rs892795277	283	N>K		No	ClinGen Ensembl
CA365232401 rs1261693671	284	I>F		No	ClinGen gnomAD
rs747394101 CA3953582	284	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3953581 rs775760431	285	V>M		No	ClinGen ExAC gnomAD
rs1008088210 CA145121825	286	Y>N		No	ClinGen TOPMed
CA3953580 rs772465404	288	K>R		No	ClinGen ExAC gnomAD
CA3953577 rs748032265	289	D>E		No	ClinGen ExAC gnomAD
rs748032265 CA3953576	289	D>E		No	ClinGen ExAC gnomAD
CA3953578 rs779087582	289	D>G		No	ClinGen ExAC gnomAD
rs201744766 CA3953575	290	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953572 rs766021284	293	Y>C		No	ClinGen ExAC TOPMed
rs1271582285 CA365232194	298	A>D		No	ClinGen TOPMed
CA365232158 rs1466868054	300	K>N		No	ClinGen TOPMed
CA3953570 rs552350609	300	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA365232154 rs1215122368	301	Q>E		No	ClinGen TOPMed
rs780968543 CA3953569	302	C>*		No	ClinGen ExAC gnomAD
CA3953567 rs777186159	304	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3953565 rs140293205	305	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953566 rs372323289	305	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562291976 CA365232086	306	L>R		No	ClinGen Ensembl
rs1241662552 CA365232076	307	G>A		No	ClinGen gnomAD
rs1241662552 CA365232074	307	G>V		No	ClinGen gnomAD
rs1582649253 CA365232064	308	V>G		No	ClinGen Ensembl
CA145121805 rs560383669	308	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs560383669 CA365232070	308	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA3953564 COSM3697370 rs572866945	310	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1071985 CA3953563 rs200332102	310	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA365231523 rs1219445294	312	D>Y		No	ClinGen gnomAD
rs1489860749 CA365231514	313	W>L		No	ClinGen gnomAD
rs1415960207 CA365231499	315	D>G		No	ClinGen TOPMed
rs753262674 CA3953544	316	T>I		No	ClinGen ExAC gnomAD
rs767924957 CA3953543	317	N>D		No	ClinGen ExAC gnomAD
CA365231486 rs151074126	317	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151074126 CA3953541	317	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771327770 CA3953539	318	R>Q		No	ClinGen ExAC gnomAD
CA3953540 rs774702048	318	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773121939 CA3953537	320	L>Q		No	ClinGen ExAC gnomAD
CA365231475 rs1212659946	320	L>V		No	ClinGen gnomAD
rs1270638408 CA365231459	322	S>R		No	ClinGen gnomAD
rs778586626 CA145120504	323	A>T		No	ClinGen gnomAD
rs769937369 CA365231448	324	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3953536 rs769937369	324	N>S		No	ClinGen ExAC TOPMed gnomAD
CA365231445 rs1344640261	325	V>M		No	ClinGen TOPMed
rs746860739 CA3953535	326	V>L		No	ClinGen ExAC gnomAD
rs116818040 CA3953534	327	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116818040 CA3953533	327	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365231424 rs1562291257	328	E>D		No	ClinGen Ensembl
rs756783849 CA145120486	328	E>K		No	ClinGen Ensembl
CA3953532 rs745716091	329	A>G		No	ClinGen ExAC gnomAD
CA3953530 rs756821057	331	Q>*		No	ClinGen ExAC gnomAD
CA3953529 rs753550891	332	R>C		No	ClinGen ExAC TOPMed gnomAD
rs567220238 CA3953528	332	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365231398 rs1291750961	333	F>S		No	ClinGen TOPMed
rs146309804 CA3953526	335	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953527 rs61731700	335	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA145120466 rs980483845	337	A>T		No	ClinGen TOPMed
CA3953523 rs759957613	339	D>E		No	ClinGen ExAC TOPMed gnomAD
CA145120461 rs1027241516	340	F>L		No	ClinGen TOPMed
rs1343620251 CA365231358	340	F>S		No	ClinGen gnomAD
rs867915353 CA145120457	341	A>V		No	ClinGen Ensembl
rs1369113748 CA365231334	344	G>C		No	ClinGen TOPMed gnomAD
rs1369113748 CA365231335	344	G>S		No	ClinGen TOPMed gnomAD
CA365231332 rs1296019805	344	G>V		No	ClinGen TOPMed gnomAD
CA3953520 rs763034424	345	K>N		No	ClinGen ExAC gnomAD
rs1407500451 CA365231320	346	L>F		No	ClinGen TOPMed
CA3953518 rs765230338	347	G>R		No	ClinGen ExAC gnomAD
CA365231294 rs1429288868	350	E>G		No	ClinGen gnomAD
CA3953514 rs745836963	353	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1009508487 CA145120435	353	Q>K		No	ClinGen TOPMed gnomAD
rs772041731 CA365231274	353	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs772041731 CA3953515	353	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA365231270 rs1481097714	354	D>H		No	ClinGen TOPMed gnomAD
CA3953512 rs143552986	355	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365231255 rs1372151362	356	H>P		No	ClinGen TOPMed
CA145120418 rs1044721173	359	P>A		No	ClinGen gnomAD
CA365231236 rs1044721173	359	P>S		No	ClinGen gnomAD
CA3953509 rs755564118	360	D>E		No	ClinGen ExAC TOPMed gnomAD
CA145120412 rs544659329	365	D>N		No	ClinGen Ensembl
CA365231180 rs1390440044	366	F>L		No	ClinGen gnomAD
rs148805806 CA3953506	367	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148805806 CA3953507	367	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1210548198 CA365231104 COSM3777000	369	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA145120398 rs946052158	370	M>I		No	ClinGen TOPMed gnomAD
CA365231098 rs1232593875	370	M>V		No	ClinGen TOPMed
CA3953502 rs750600343	371	R>Q		No	ClinGen ExAC gnomAD
rs192304860 CA3953503	371	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227737470 CA365231062	372	A>T		No	ClinGen gnomAD
CA3953501 rs765547559	372	A>V		No	ClinGen ExAC TOPMed gnomAD
CA365231024 rs1408196649	374	S>N		No	ClinGen gnomAD
rs776656493 CA3953498	377	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764182210 COSM251037 CA3953497	377	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776656493 CA365230979	377	R>S		No	ClinGen ExAC TOPMed gnomAD
CA145120385 rs528182540	378	V>L		No	ClinGen 1000Genomes
CA365230954 rs1181988347	379	Q>*		No	ClinGen gnomAD
rs1459758936 CA365230912	381	K>E		No	ClinGen TOPMed gnomAD
CA3953496 rs759411165	381	K>N		No	ClinGen ExAC gnomAD
rs774278203 CA3953495	382	H>R		No	ClinGen ExAC gnomAD
rs1258399774 CA365230863 COSM200970	384	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs772715890 CA3953493	385	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772715890 CA3953492	385	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3953491 rs559938192	385	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3953488 rs754545228	391	V>M		No	ClinGen ExAC gnomAD
CA3953487 rs747450142	392	G>W		No	ClinGen ExAC gnomAD
rs983831091 CA145120366	393	D>N		No	ClinGen Ensembl
CA145120289 rs939247540	398	P>S		No	ClinGen TOPMed
CA3953468 rs555487713	401	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3953469 rs746569093	401	P>S		No	ClinGen ExAC gnomAD
rs536030765 CA3953466	404	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3953463 rs147498741 COSM3780839	408	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3953464 rs138265393	408	R>W		No	ClinGen ESP ExAC gnomAD
rs905213119 CA145120265	410	F>L		No	ClinGen TOPMed
rs756162065 CA3953461	411	L>P		No	ClinGen ExAC gnomAD
CA145120259 rs1037447402	412	A>E		No	ClinGen TOPMed gnomAD
rs138706436 CA3953460	412	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365230589 rs1357199629	413	A>G		No	ClinGen TOPMed
CA365230588 rs1357199629	413	A>V		No	ClinGen TOPMed
rs1350033666 CA365230570	416	A>P		No	ClinGen TOPMed gnomAD
rs1350033666 CA365230571	416	A>T		No	ClinGen TOPMed gnomAD
CA145120256 rs895646073	417	A>D		No	ClinGen gnomAD
CA365230562 rs895646073	417	A>V		No	ClinGen gnomAD
CA365230551 rs1325702028	419	M>L		No	ClinGen TOPMed gnomAD
rs145783720 CA3953457	422	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200615812 CA3953458	422	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1169762646 CA365230524	423	W>R		No	ClinGen gnomAD
rs1466049480 CA365230515	424	A>T		No	ClinGen gnomAD
rs1173620953 CA365230502	426	G>S		No	ClinGen gnomAD
CA365230493 rs1200485819	427	A>G		No	ClinGen gnomAD
CA365230495 rs761763263	427	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3953455 rs761763263	427	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1250219067 CA365230491	428	E>K		No	ClinGen gnomAD
rs776402952 CA3953454	429	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1157478669 CA365230473	431	E>*		No	ClinGen TOPMed
rs775020161 CA3953451	432	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3953452 rs760439849	432	V>M		No	ClinGen ExAC gnomAD
rs1421386010 CA365230456	433	L>F		No	ClinGen TOPMed
rs771496601 CA3953450	436	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3953433 rs775010246 COSM1257699	437	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760321058 CA3953434	437	E>K		No	ClinGen ExAC gnomAD
rs1359354162 CA365230402	440	Y>F		No	ClinGen gnomAD
rs184556952 CA3953432	440	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3953431 rs759027697 COSM1071982	441	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3953430 rs774901382	442	L>R		No	ClinGen ExAC TOPMed gnomAD
rs749823779 CA3953428	445	Q>H		No	ClinGen ExAC gnomAD
rs771465580 CA3953429	445	Q>K		No	ClinGen ExAC gnomAD
rs1024092176 CA145120144	447	S>T		No	ClinGen Ensembl
CA365230288 rs1239781976	449	E>Q		No	ClinGen gnomAD
CA3953426 rs770157178	452	H>L		No	ClinGen ExAC gnomAD
CA3953427 rs773516023	452	H>N		No	ClinGen ExAC gnomAD
CA3953425 rs17854785 VAR_067065	453	R>C		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA3953424 rs781333142	453	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1289313634 CA365230202	454	N>H		No	ClinGen gnomAD
CA145120134 rs899001521	454	N>S		No	ClinGen TOPMed gnomAD
CA365230184 rs1285814305	455	V>M		No	ClinGen gnomAD
CA3953422 rs199774053	457	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780315795 CA3953421	457	Q>H		No	ClinGen ExAC gnomAD
rs757216467 CA365230131	458	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs140684172 CA3953419	459	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421110744 CA365230130	459	G>R		No	ClinGen TOPMed gnomAD
rs1164507520 CA365230110	460	L>P		No	ClinGen gnomAD
CA365230099 rs1004022993	461	D>A		No	ClinGen TOPMed
rs1004022993 CA145120125	461	D>G		No	ClinGen TOPMed
CA145120122 rs1004022993	461	D>V		No	ClinGen TOPMed
CA145120130 rs1035618017	461	D>Y		No	ClinGen Ensembl
rs1416423535 CA365230082	462	P>L		No	ClinGen gnomAD
rs886944085 CA145120103	463	A>G		No	ClinGen TOPMed
rs573466152 CA145120113	463	A>T		No	ClinGen 1000Genomes
CA365230060 rs1300962285	464	T>S		No	ClinGen gnomAD
rs1477806410 CA365230065	464	T>S		No	ClinGen gnomAD
rs370107041 CA3953416	465	R>C		No	ClinGen ExAC TOPMed gnomAD
CA145120099 rs200256677	465	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA365230057 rs370107041	465	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1048108863 CA145120097	468	N>S		No	ClinGen TOPMed
rs755929977 CA3953415	469	L>P		No	ClinGen ExAC gnomAD
CA365229990 rs755929977	469	L>R		No	ClinGen ExAC gnomAD
rs1217168537 CA365229970	470	N>K		No	ClinGen TOPMed
rs1322059460 CA365229961	471	L>F		No	ClinGen gnomAD
rs571445979 CA3953412	472	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs571445979 CA3953413	472	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs146110217 CA3953414	472	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317264757 CA365229935	473	A>E		No	ClinGen TOPMed gnomAD
CA3953411 rs773808591	474	V>M		No	ClinGen ExAC gnomAD
rs1435080183 CA365229901	475	T>I		No	ClinGen TOPMed gnomAD
rs1582645766 CA365229914	475	T>P		No	ClinGen Ensembl
rs773708378 CA3953409	476	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773708378 CA3953408	476	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770186867 CA3953407	477	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1351957843 CA365229875	477	N>K		No	ClinGen gnomAD
CA145120089 rs9374088	477	N>S		No	ClinGen TOPMed gnomAD
rs1288047242 CA365229841	479	V>A		No	ClinGen TOPMed
CA365229840 rs1288047242	479	V>G		No	ClinGen TOPMed
rs762204959 CA365229839	480	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3953388 rs762204959	480	R>G		No	ClinGen ExAC TOPMed gnomAD
rs143598372 CA3953387	480	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235947046 CA365229830	481	D>E		No	ClinGen TOPMed
rs769082109 CA3953386	482	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3953385 rs148893072	483	Y>C		No	ClinGen ESP ExAC TOPMed
CA3953384 rs148893072	483	Y>S		No	ClinGen ESP ExAC TOPMed
CA365229812 rs1582645271	484	D>E		No	ClinGen Ensembl
rs1313447533 CA365229818	484	D>N		No	ClinGen TOPMed gnomAD
rs1313447533 CA365229816	484	D>Y		No	ClinGen TOPMed gnomAD
CA145120018 rs916570475	488	K>T		No	ClinGen TOPMed gnomAD
CA365229785 rs1239006111	489	E>Q		No	ClinGen gnomAD
CA365229772 rs1381462679	491	V>M		No	ClinGen TOPMed
CA3953382 rs200968445	493	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365229755 rs200968445	493	R>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953381 rs146727348	494	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953380 rs143348702	495	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953379 rs748137381	495	N>S		No	ClinGen ExAC gnomAD
CA365229728 rs1341623743	496	D>G		No	ClinGen gnomAD
rs754807152 CA3953377	496	D>N		No	ClinGen ExAC TOPMed
CA3953375 rs751203974	497	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3953374 rs779738647	499	D>H		No	ClinGen ExAC gnomAD
rs764827532 CA365229669	500	T>I		No	ClinGen ExAC gnomAD
rs764827532 CA3953371	500	T>K		No	ClinGen ExAC gnomAD
CA3953372 rs764827532	500	T>R		No	ClinGen ExAC gnomAD
CA365229663 rs1218438223	501	G>R		No	ClinGen TOPMed
rs762171166 CA3953370	502	M>I		No	ClinGen ExAC gnomAD
CA3953369 rs200863369	503	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953368 rs764361674	505	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3953314 rs769430523	506	G>E		No	ClinGen ExAC TOPMed gnomAD
rs373511531 CA145119988	506	G>R		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs199610079 CA3953311	507	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758596168 CA3953308	512	E>G		No	ClinGen ExAC
CA365229457 rs1201233199	515	L>V		No	ClinGen TOPMed
CA3953304 rs143617378	516	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953303 rs139689509	516	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA365229431 rs1285023781	517	W>L		No	ClinGen gnomAD
CA365229439 rs1168662730	517	W>R		No	ClinGen TOPMed
rs1582643919 CA365229419	518	C>G		No	ClinGen Ensembl
rs1240524311 CA365229417	518	C>Y		No	ClinGen gnomAD
CA3953302 rs759426771	519	Q>*		No	ClinGen ExAC gnomAD
CA145119743 rs368929295	519	Q>P		No	ClinGen Ensembl
rs774150222 CA3953301	520	E>D		No	ClinGen ExAC gnomAD
rs1402602983 CA365229391	520	E>K		No	ClinGen TOPMed
rs546304128 CA3953299	522	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs773062492 CA3953298	523	A>V		No	ClinGen ExAC gnomAD
CA3953297 rs769412139	526	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781755257 CA3953295	527	G>A		No	ClinGen ExAC gnomAD
rs769165930 CA3953294	528	V>I		No	ClinGen ExAC gnomAD
rs1163144096 CA365229268	529	H>R		No	ClinGen gnomAD
CA365229256 rs1259676343	530	V>I		No	ClinGen gnomAD
rs200751714 CA3953289	532	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953290 rs200751714	532	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1287520371 CA365229202	534	S>P		No	ClinGen gnomAD
rs555748622 CA3953285	535	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3953284 rs751454029	535	S>C		No	ClinGen ExAC gnomAD
rs762710541 CA3953282	536	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3953281 rs772974250	537	W>C		No	ClinGen ExAC gnomAD
CA3953280 rs199690907	538	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA145119690 rs199690907	538	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365229149 rs1562289612	538	A>V		No	ClinGen Ensembl
CA145119688 rs781435334	539	D>H		No	ClinGen Ensembl
CA365229126 rs1432495405	540	G>W		No	ClinGen gnomAD
CA3953279 rs148573701	541	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA365229098 rs1323366116	542	A>V		No	ClinGen gnomAD
rs776230096 CA365229089	543	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs776230096 CA3953278	543	L>R		No	ClinGen ExAC TOPMed gnomAD
CA365229082 rs1367256446	544	C>R		No	ClinGen TOPMed
CA3953275 rs768062819	545	A>D		No	ClinGen ExAC
rs775920518 CA3953273	546	L>P		No	ClinGen ExAC TOPMed gnomAD
CA145119683 rs939403456	547	V>M		No	ClinGen Ensembl
CA365229029 rs1582643564	548	Y>S		No	ClinGen Ensembl
CA365229017 rs779284785	549	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3953270 rs779284785	549	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3953271 rs372442120	549	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs757426218 CA3953269	550	L>P		No	ClinGen ExAC gnomAD
CA365229005 rs749528162	551	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3953268 rs749528162	551	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1220642889 CA365228990	552	P>A		No	ClinGen gnomAD
rs1220642889 CA365228988	552	P>S		No	ClinGen gnomAD
CA365228961 rs1311327811	554	L>R		No	ClinGen TOPMed
rs1354971299 CA365227949	557	P>S		No	ClinGen TOPMed
CA145119492 rs371428951	558	S>*		No	ClinGen ESP
CA3953238 rs763694303	558	S>P		No	ClinGen ExAC TOPMed gnomAD
CA365227900 rs1347655464	559	E>Q		No	ClinGen TOPMed
rs752103251 CA3953236	563	L>P		No	ClinGen ExAC TOPMed gnomAD
CA365227732 rs1239789056	567	E>G		No	ClinGen gnomAD
CA365227656 rs1274332707	571	W>*		No	ClinGen TOPMed
CA145119481 rs910343329	572	A>T		No	ClinGen TOPMed
CA365227617 rs911112875	573	L>V		No	ClinGen gnomAD
rs767032412 CA3953235	574	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1582642746 CA365227566	575	V>G		No	ClinGen Ensembl
rs760548962 CA145119469	576	A>G		No	ClinGen ExAC gnomAD
CA3953234 rs760548962	576	A>V		No	ClinGen ExAC gnomAD
rs774908820 CA3953233	578	N>Y		No	ClinGen ExAC gnomAD
CA365227508 rs1416839765	579	E>K		No	ClinGen gnomAD
CA3953231 rs763354734	582	I>F		No	ClinGen ExAC gnomAD
rs773448261 CA3953230	584	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3953227 rs781074876	586	V>L		No	ClinGen ExAC gnomAD
CA365227384 rs1474143489	589	Q>P		No	ClinGen TOPMed
CA145119457 rs923829214	590	A>T		No	ClinGen Ensembl
rs1486369730 CA365227370	590	A>V		No	ClinGen gnomAD
CA145119452 rs989929012	591	V>M		No	ClinGen TOPMed gnomAD
rs1582642636 CA365227342	592	V>G		No	ClinGen Ensembl
rs1262907239 CA365227312	595	S>G		No	ClinGen TOPMed gnomAD
rs1582642616 CA365227297	595	S>R		No	ClinGen Ensembl
CA365227288 rs1582642586	596	D>A		No	ClinGen Ensembl
CA145119442 rs998960772	596	D>Y		No	ClinGen TOPMed
CA3953221 rs757089838	597	P>A		No	ClinGen ExAC TOPMed gnomAD
rs757089838 CA365227275	597	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1293976533 CA365227264	598	L>R		No	ClinGen gnomAD
CA365227248 rs1297892293	599	G>D		No	ClinGen TOPMed
rs777646974 CA3953218	599	G>S		No	ClinGen ExAC
COSM4006097 CA3953215 rs193182382	601	I>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3953216 rs193182382	601	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383032560 CA365227208	602	A>G		No	ClinGen gnomAD
CA365227206 rs1383032560	602	A>V		No	ClinGen gnomAD
CA365227193 rs1290477770	603	Y>*		No	ClinGen gnomAD
rs1385376891 CA365227196	603	Y>C		No	ClinGen gnomAD
CA365227199 rs1385376891	603	Y>S		No	ClinGen gnomAD
CA365227180 rs1582642512	604	L>P		No	ClinGen Ensembl
rs990456072 CA145119427	605	S>G		No	ClinGen Ensembl
rs959046830 CA145119425	606	H>L		No	ClinGen Ensembl
CA365227131 rs759102155	607	F>L		No	ClinGen ExAC gnomAD
CA3953211 rs766907767	609	S>G		No	ClinGen ExAC TOPMed gnomAD
rs763543444 CA3953210	610	A>D		No	ClinGen ExAC gnomAD
rs1447269130 CA365227080	611	F>V		No	ClinGen gnomAD
CA365227025 rs1488359764	614	M>I		No	ClinGen gnomAD
rs1208496560 CA365227036	614	M>L		No	ClinGen gnomAD
rs1197233077 CA365227031	614	M>T		No	ClinGen gnomAD
rs371145060 CA145119411	615	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365227016 rs1294567895	615	A>S		No	ClinGen TOPMed
CA3953207 rs371145060	615	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953205 rs147165993	617	S>N		No	ClinGen ESP TOPMed
rs1444872378 CA365226982	617	S>R		No	ClinGen TOPMed
CA365226978 rs1468387172	618	P>S		No	ClinGen gnomAD
rs1216118561 CA365226965	619	G>S		No	ClinGen gnomAD
rs1317761702 CA365226825	622	S>I		No	ClinGen gnomAD
rs1396059732 CA365226819	622	S>R		No	ClinGen gnomAD
rs1195970533 CA365226792	623	Q>H		No	ClinGen gnomAD
rs17850590 VAR_067066 CA3953176	624	A>T		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1238042153 CA365226777	624	A>V		No	ClinGen gnomAD
rs1439595238 CA365226746	626	P>S		No	ClinGen gnomAD
CA365226732 rs1182995935	627	G>R		No	ClinGen TOPMed
CA365226683 rs1200067186	629	S>Y		No	ClinGen gnomAD
rs773261298 CA3953175	630	S>N		No	ClinGen ExAC gnomAD
CA3953173 rs748012645	632	V>E		No	ClinGen ExAC TOPMed gnomAD
CA3953174 rs149468425	632	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278829863 CA365226580	635	L>F		No	ClinGen gnomAD
rs780994033 CA3953172	635	L>P		No	ClinGen ExAC gnomAD
rs754572917 CA3953171	636	S>N		No	ClinGen ExAC gnomAD
rs1184717762 CA365226557	636	S>R		No	ClinGen TOPMed
rs1345582054 CA365226531	638	L>P		No	ClinGen TOPMed gnomAD
CA365226476 rs1175147152	643	Q>*		No	ClinGen gnomAD
CA3953170 rs746676376	644	R>*		No	ClinGen ExAC gnomAD
rs137916380 CA3953168	644	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953169 rs137916380	644	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750881194 CA3953167	645	S>P		No	ClinGen ExAC gnomAD
rs150285580 COSM1071979 CA3953165	646	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs765813919 CA3953166	646	R>W		No	ClinGen ExAC gnomAD
CA145119167 rs757726711	650	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1436529234 CA365226281	651	A>T		No	ClinGen TOPMed
CA365226198 rs1216403323	656	G>A		No	ClinGen gnomAD
rs1216403323 CA365226199	656	G>D		No	ClinGen gnomAD
rs531636584 CA3953142	658	K>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3953143 rs542113479	658	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs562686887 CA3953140	659	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs201879954 CA3953139	660	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751605630 CA3953138	660	R>H		No	ClinGen ExAC TOPMed gnomAD
CA145119154 rs369132958	662	E>D		No	ClinGen ESP TOPMed
rs1371519821 CA365225999	665	A>P		No	ClinGen gnomAD
CA3953114 rs753753519	666	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3953113 rs539010110	667	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3953111 rs775298262	668	P>R		No	ClinGen ExAC TOPMed gnomAD
rs144816738 CA3953112	668	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771770505 CA3953108	670	T>A		No	ClinGen ExAC gnomAD
CA145119005 rs767924640	672	V>M		No	ClinGen TOPMed gnomAD
rs1350537127 CA365225952	673	P>T		No	ClinGen gnomAD
rs759223942 CA3953106	674	P>T		No	ClinGen ExAC TOPMed gnomAD
rs773936161 CA3953105	676	P>L		No	ClinGen ExAC gnomAD
CA3953103 rs190609453	679	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953104 rs190609453	679	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190609453 CA3953102	679	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA145118980 rs369053207	680	V>G		No	ClinGen ESP
CA3953101 rs748614304	681	P>H		No	ClinGen ExAC gnomAD
CA3953100 rs748614304	681	P>L		No	ClinGen ExAC gnomAD
rs748614304 CA365225903	681	P>R		No	ClinGen ExAC gnomAD
rs140983959 CA3953099	682	L>P		No	ClinGen ESP ExAC TOPMed
CA3953096 rs755363341	683	T>I		No	ClinGen ExAC gnomAD
CA3953095 rs747240209	684	P>L		No	ClinGen ExAC
rs41288558 CA3953093	688	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365225867 rs41288558	688	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750454243 CA3953092	689	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3953091 rs750454243	689	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA365225858 rs1418481024	689	Q>P		No	ClinGen gnomAD
CA3953090 rs765313736	690	E>D		No	ClinGen ExAC gnomAD
CA365225829 rs1295129674	692	G>D		No	ClinGen gnomAD
rs143283451 CA3953063	692	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365225822 rs761277963	693	A>G		No	ClinGen ExAC gnomAD
CA3953062 rs761277963	693	A>V		No	ClinGen ExAC gnomAD
CA365225810 rs1322427708	695	D>E		No	ClinGen gnomAD
rs549824894 CA3953061	695	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA145118873 rs1046137487	697	C>R		No	ClinGen TOPMed gnomAD
rs747565013 CA3953059	697	C>Y		No	ClinGen ExAC gnomAD
rs1370930471 CA365225772	701	G>V		No	ClinGen gnomAD
CA365225756 rs1429439432	703	H>Q		No	ClinGen gnomAD
CA365225761 rs1192049622	703	H>Y		No	ClinGen gnomAD
rs1192278420 CA365225743	705	Y>*		No	ClinGen gnomAD
CA3953056 rs368697503	706	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252097952 CA365225735	707	L>V		No	ClinGen gnomAD
CA3953054 COSM1732831 rs374178476	709	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3953053 rs749291145	709	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3953052 rs777936022	710	L>F		No	ClinGen ExAC gnomAD
rs754810367 CA3953051	710	L>R		No	ClinGen ExAC gnomAD
CA3953050 rs751544392	711	C>R		No	ClinGen ExAC gnomAD
rs1370078963 CA365225676	713	N>T		No	ClinGen gnomAD
rs145195776 CA3953047	714	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750076454 CA3953046	715	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3953045 rs764837002	717	F>C		No	ClinGen ExAC TOPMed gnomAD
rs933456601 CA145118840	717	F>I		No	ClinGen Ensembl
CA3953044 rs200923926	719	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3953042 rs375968194	719	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953043 rs200923926 COSM150151	719	R>W	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3953041 rs758666942	721	C>S		No	ClinGen ExAC gnomAD
CA365225514 rs1454109462	722	F>L		No	ClinGen gnomAD
CA3953040 rs776035933	722	F>S		No	ClinGen ExAC gnomAD
CA3953038 rs149976085	723	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953037 rs201874487 COSM1439651	723	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA145118829 rs201874487	723	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3953036 rs201874487	723	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3953039 rs149976085	723	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3953035 rs749542932	724	C>Y		No	ClinGen ExAC gnomAD
CA3953034 rs777642656	725	H>P		No	ClinGen ExAC gnomAD
rs777642656 CA365225444	725	H>R		No	ClinGen ExAC gnomAD
rs374109837 CA145118822	726	T>S		No	ClinGen ESP TOPMed
rs749679564 CA3953032	727	C>*		No	ClinGen ExAC TOPMed gnomAD
rs978150097 CA145118810	729	A>T		No	ClinGen TOPMed
rs746926744 CA3953031	730	T>A		No	ClinGen ExAC
rs780187357 CA3953030	731	L>V		No	ClinGen ExAC gnomAD
rs1304012270 CA365225291	732	W>*		No	ClinGen gnomAD
rs758234764 CA3953029	732	W>S		No	ClinGen ExAC gnomAD
CA3953028 rs750203059	733	P>S		No	ClinGen ExAC TOPMed gnomAD
CA365225212 rs910730	736	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3953026 rs140206187	736	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369939778 CA3953024	737	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763500872 CA3953023	739	H>Y		No	ClinGen ExAC gnomAD
CA365225115 rs1434435580	741	G>R		No	ClinGen gnomAD
rs1582639743 CA365225110	742	D>N		No	ClinGen Ensembl
CA3953022 rs760228776	743	G>R		No	ClinGen ExAC gnomAD
CA365225082 rs760228776	743	G>R		No	ClinGen ExAC gnomAD
CA365224960 rs1283411082	744	H>N		No	ClinGen gnomAD
rs1205676765 CA365224956	744	H>P		No	ClinGen gnomAD
CA3953003 rs767030676	745	F>I		No	ClinGen ExAC TOPMed
COSM351298 rs767030676 CA365224944	745	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs376266690 CA3953002	746	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376266690 CA365224915	746	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA145118708 rs373130397	748	L>F		No	ClinGen ESP TOPMed gnomAD
rs1285612366 CA365224878	749	Q>*		No	ClinGen gnomAD
CA365224860 rs1016392900	750	H>P		No	ClinGen gnomAD
rs766636388 CA3953000	750	H>Q		No	ClinGen ExAC gnomAD
CA365224858 rs766636388	750	H>Q		No	ClinGen ExAC gnomAD
CA145118703 rs1016392900	750	H>R		No	ClinGen gnomAD
CA3953001 rs752171230	750	H>Y		No	ClinGen ExAC gnomAD
CA3952999 rs763420914	751	L>R		No	ClinGen ExAC gnomAD
rs1392356785 CA365224844	752	P>S		No	ClinGen TOPMed gnomAD
rs762147419 CA3952996	755	D>A		No	ClinGen ExAC TOPMed gnomAD
CA3952997 rs765514022	755	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776794490 CA3952994	756	H>P		No	ClinGen ExAC gnomAD
CA365224790 rs776794490	756	H>R		No	ClinGen ExAC gnomAD
CA3952992 rs9320288 VAR_017903	758	A>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35260632 CA145118692 VAR_067067	758	A>K	requires 2 nucleotide substitutions [UniProt]	No	ClinGen UniProt Ensembl dbSNP
rs59056467 VAR_067068 CA145118695	758	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_061355 rs59056467 CA3952993	758	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs9320288 CA365224748	758	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749073327 CA3952989	759	E>A		No	ClinGen ExAC gnomAD
rs1334947600 CA365224717	760	G>S		No	ClinGen gnomAD
CA3952988 rs199854479	762	D>N		No	ClinGen ExAC TOPMed gnomAD
CA365224657 rs747808035	763	R>K		No	ClinGen ExAC TOPMed gnomAD
CA145118681 rs993888185	763	R>S		No	ClinGen TOPMed gnomAD
CA3952986 rs747808035	763	R>T		No	ClinGen ExAC TOPMed gnomAD
RCV000762430 rs1447618526	764	G>missing		No	ClinVar dbSNP
CA3952985 rs141685538	764	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952984 rs754537800	765	P>A		No	ClinGen ExAC gnomAD
rs1441663659 CA365224615	766	E>K		No	ClinGen gnomAD
rs1302348882 CA365224581	767	S>N		No	ClinGen gnomAD
CA365224564 rs1168561566	768	P>A		No	ClinGen gnomAD
CA3952982 rs770312041	768	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3952981 rs770312041	768	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA145118677 rs770312041	768	P>R		No	ClinGen ExAC TOPMed gnomAD
rs779550853 CA3952933	770	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1303186391 CA365224139	770	L>R		No	ClinGen gnomAD
rs746354485 CA3952931	772	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3952930 rs371099377	773	P>A		No	ClinGen ESP ExAC gnomAD
rs371099377 CA365224112	773	P>S		No	ClinGen ESP ExAC gnomAD
CA3952928 rs557399186	775	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs537162085 CA3952927	778	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs778292581 CA3952926	779	P>L		No	ClinGen ExAC TOPMed gnomAD
rs901513734 CA145117336	779	P>S		No	ClinGen gnomAD
CA365224009 rs1167063493	780	P>A		No	ClinGen TOPMed
rs889413303 CA145117328	780	P>R		No	ClinGen TOPMed gnomAD
CA365223998 rs1250447790	781	G>C		No	ClinGen gnomAD
rs1334284308 CA365223969	783	S>A		No	ClinGen gnomAD
CA365223960 rs1582638176	784	T>P		No	ClinGen Ensembl
rs767617933 CA3952923	787	A>V		No	ClinGen ExAC gnomAD
rs183276533 CA3952921	788	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3952920 rs183276533	788	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776354259 CA3952918	790	E>A		No	ClinGen ExAC gnomAD
rs763802550 CA365223873	790	E>D		No	ClinGen ExAC gnomAD
CA3952917 rs763802550	790	E>D		No	ClinGen ExAC gnomAD
CA3952916 rs760372024	791	G>R		No	ClinGen ExAC gnomAD
rs199624824 CA3952915	792	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1163458825 CA365223852	792	A>V		No	ClinGen gnomAD
CA3952913 rs148422524	793	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365223835 rs1170100582	794	P>S		No	ClinGen TOPMed gnomAD
rs1562287008 CA365223812	796	P>A		No	ClinGen Ensembl
CA365223780 rs1192339021	798	P>L		No	ClinGen gnomAD
rs774018920 CA365223770	799	S>N		No	ClinGen ExAC gnomAD
rs774018920 CA3952912	799	S>T		No	ClinGen ExAC gnomAD
rs771503988 CA3952911	800	Q>R		No	ClinGen ExAC gnomAD
CA365223737 rs1042557497	801	P>L		No	ClinGen TOPMed gnomAD
CA145117309 rs1042557497	801	P>R		No	ClinGen TOPMed gnomAD
CA365223735 rs1582638038	802	T>P		No	ClinGen Ensembl
rs749814764 CA3952910	803	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778191728 CA3952909	803	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3952905 rs781312968	804	R>Q		No	ClinGen ExAC gnomAD
rs748384478 CA3952906	804	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1323728442 CA365223678	806	I>T		No	ClinGen gnomAD
CA3952903 rs751592574	807	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201884508 CA3952902	807	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1170785229 CA365223648	808	L>P		No	ClinGen TOPMed
rs1170785229 CA365223646	808	L>R		No	ClinGen TOPMed
rs905921993 CA145117290	809	S>P		No	ClinGen Ensembl
rs905921993 CA365223644	809	S>T		No	ClinGen Ensembl
CA145117288 rs200911086	811	P>L		No	ClinGen TOPMed gnomAD
CA3952897 rs566422792	813	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775386197 CA3952896	813	R>H		No	ClinGen ExAC TOPMed gnomAD
rs546527072 CA3952895	814	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs567174912 CA3952892	815	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3952893 rs567174912	815	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1071976 CA3952894 rs529623333	815	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs550619231 CA3952891	816	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA145117275 rs879694571	816	L>S		No	ClinGen TOPMed
CA3952890 rs773637549	819	L>F		No	ClinGen ExAC gnomAD
rs770168463 CA3952889	820	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3952888 rs376815721	820	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA145117270 rs952761743	821	L>V		No	ClinGen TOPMed gnomAD
CA3952885 rs747238060	822	T>S		No	ClinGen ExAC gnomAD
CA3952882 rs144451221	825	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952883 rs144451221	825	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201988999 CA3952884	825	P>T		No	ClinGen ExAC gnomAD
rs756097703 CA3952880	828	E>K		No	ClinGen ExAC TOPMed gnomAD
CA145117258 rs202159816	830	P>L		No	ClinGen 1000Genomes TOPMed
CA3952878 rs767346325	831	P>T		No	ClinGen ExAC gnomAD
rs751311459 CA3952876	833	P>L		No	ClinGen ExAC gnomAD
rs765961719 CA3952875	835	R>C		No	ClinGen ExAC gnomAD
rs762596485 CA3952874	835	R>H		No	ClinGen ExAC gnomAD
rs762596485 CA365223316	835	R>L		No	ClinGen ExAC gnomAD
rs372962325 CA3952871	839	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952870 rs776796134	839	A>V		No	ClinGen ExAC gnomAD
CA145117249 rs867658764	841	A>V		No	ClinGen TOPMed
rs199541635 CA3952868	842	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375851373 CA3952867	842	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779062389 CA3952864	844	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3952863 rs528728578	846	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752743666 CA3952862	849	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781119088 CA3952861	850	V>G		No	ClinGen ExAC
CA365223123 rs1341488452	851	G>S		No	ClinGen gnomAD
CA365223100 rs138772971	852	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952859 rs138772971	852	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA365223102 rs138772971	852	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952860 rs754864321	852	W>G		No	ClinGen ExAC gnomAD
CA3952858 rs201726028	853	G>A		No	ClinGen ExAC TOPMed gnomAD
CA365223092 rs201726028	853	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1159922532 CA365223096	853	G>R		No	ClinGen gnomAD
rs1254646641 CA365223065	856	V>L		No	ClinGen TOPMed
rs1472323827 CA365223051	857	Q>*		No	ClinGen gnomAD
rs762693532 CA3952857	857	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1189516088 CA365223034	858	S>N		No	ClinGen gnomAD
rs749847291 CA365223028	858	S>R		No	ClinGen ExAC TOPMed gnomAD
CA365223020 rs1247347037	859	P>S		No	ClinGen gnomAD
rs35531850 CA3952837	863	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365222904 rs1582637086	864	A>D		No	ClinGen Ensembl
rs1169129810 CA365222907	864	A>S		No	ClinGen TOPMed gnomAD
rs1169129810 CA365222909	864	A>T		No	ClinGen TOPMed gnomAD
rs764641692 CA3952836	865	M>I		No	ClinGen ExAC gnomAD
CA145117120 rs970211026	865	M>V		No	ClinGen gnomAD
rs142601388 CA3952835	866	E>Q		No	ClinGen ESP ExAC
CA3952834 rs754312834	867	K>E		No	ClinGen ExAC TOPMed gnomAD
CA365222837 rs1482918794	869	E>K		No	ClinGen gnomAD
CA3952832 rs186550956	870	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186550956 CA3952831	870	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278552555 CA365222775	873	P>S		No	ClinGen gnomAD
rs1219837301 CA365222760	874	F>S		No	ClinGen TOPMed gnomAD
rs201086049 CA3952828	875	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA145117087 rs967737892	875	S>F		No	ClinGen TOPMed
rs1409506970 CA365222722	877	E>A		No	ClinGen gnomAD
CA365222676 rs1308339277	880	E>G		No	ClinGen gnomAD
CA3952827 rs767934563	880	E>K		No	ClinGen ExAC TOPMed gnomAD
CA365222678 rs767934563	880	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1431416665 CA365222656	881	E>D		No	ClinGen TOPMed gnomAD
CA3952826 rs369062311	882	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA145117080 rs202206489	883	V>A		No	ClinGen 1000Genomes
CA3952824 rs774680636	884	P>S		No	ClinGen ExAC
CA3952823 rs770881129	886	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1009745396 CA365222511	888	D>E		No	ClinGen TOPMed gnomAD
CA365222525 rs1463416553	888	D>N		No	ClinGen TOPMed
CA3952822 rs749344632	889	V>M		No	ClinGen ExAC gnomAD
CA3952821 rs773451215	890	E>D		No	ClinGen ExAC gnomAD
rs1252092836 CA365222489	890	E>Q		No	ClinGen gnomAD
CA365222344 rs1388784355	892	A>T		No	ClinGen gnomAD
rs771733625 CA3952798	892	A>V		No	ClinGen ExAC gnomAD
CA3952796 rs745637217	894	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3952795 rs200570337	894	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs770550578 CA3952794	897	A>T		No	ClinGen ExAC gnomAD
rs374654125 CA3952793	897	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952791 rs755666940	898	K>N		No	ClinGen ExAC TOPMed gnomAD
rs146891940 CA3952790	899	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3952788 rs755459325	901	G>A		No	ClinGen ExAC gnomAD
CA365222213 rs1452626713	901	G>R		No	ClinGen gnomAD
CA145116882 rs891082935	902	T>I		No	ClinGen TOPMed
rs1488242651 CA365222185	903	M>T		No	ClinGen TOPMed gnomAD
CA3952787 rs751897747	904	N>S		No	ClinGen ExAC gnomAD
CA365222143 rs1450420676	907	P>R		No	ClinGen TOPMed
rs1361369006 CA365222099	910	R>C		No	ClinGen TOPMed gnomAD
rs766661267 CA3952786 COSM1215066	910	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs577997278 CA3952784	911	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747910392 CA3952785	911	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1297012685 CA365222061	913	L>P		No	ClinGen gnomAD
CA3952783 rs750057550	915	R>C		No	ClinGen ExAC TOPMed gnomAD
rs141002248 CA3952782	915	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201867336 CA3952780	916	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151053635 CA3952779	916	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201867336 CA3952781	916	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774191240 CA3952778	917	A>T		No	ClinGen ExAC
rs770768657 CA3952777	917	A>V		No	ClinGen ExAC TOPMed gnomAD
rs891652521 CA145116838	918	K>E		No	ClinGen gnomAD
CA365221988 rs1392574982	919	E>*		No	ClinGen gnomAD
CA365221973 rs1331531795	920	E>K		No	ClinGen gnomAD
rs373580101 CA3952774	927	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952744 rs757547638	930	T>A		No	ClinGen ExAC gnomAD
rs996781381 CA145116763	932	Q>*		No	ClinGen Ensembl
CA3952742 rs764211710	933	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs143674381 CA145116752	933	R>W		No	ClinGen ESP TOPMed gnomAD
COSM343348 rs756184234 CA3952741	934	R>*	lung pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752849655 CA3952740	934	R>Q		No	ClinGen ExAC gnomAD
CA3952739 rs34681234	937	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766988904 CA3952737	938	I>A		No	ClinGen ExAC
CA3952735 rs765086578	939	E>D		No	ClinGen ExAC gnomAD
CA3952736 rs772927131	939	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA365221585 rs1228684026	940	A>P		No	ClinGen gnomAD
rs1282864467 CA365221565	941	A>D		No	ClinGen gnomAD
rs1353269710 CA365221573	941	A>T		No	ClinGen gnomAD
rs761518634 CA3952734	942	L>F		No	ClinGen ExAC gnomAD
CA3952730 COSM421111 rs147968137	948	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1321445515 CA365221501	949	G>D		No	ClinGen gnomAD
CA3952728 rs746442435	950	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768105955 CA145116675	955	A>V		No	ClinGen gnomAD
COSM3429841 rs549625953 CA3952727	958	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757611652 CA3952726	958	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1246943333 CA365221389	959	Q>*		No	ClinGen gnomAD
rs760096538 CA365221344	961	S>I		No	ClinGen ExAC gnomAD
CA3952725 rs749494104	961	S>R		No	ClinGen ExAC TOPMed gnomAD
rs760096538 CA3952710	961	S>T		No	ClinGen ExAC gnomAD
CA365221319 rs1342006133	965	Q>K		No	ClinGen gnomAD
rs775037555 CA3952709	966	Q>*		No	ClinGen ExAC
CA365221299 COSM1071975 rs1562285554	967	K>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA365221303 rs1432973376	967	K>T		No	ClinGen gnomAD
rs1212383295 CA365221266	972	G>A		No	ClinGen TOPMed
CA3952707 rs749562067	973	Q>K		No	ClinGen ExAC gnomAD
rs1345908162 CA365221245	976	Q>*		No	ClinGen gnomAD
CA365221239 rs1304662079	977	L>F		No	ClinGen gnomAD
CA3952703 rs375453363	978	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952704 rs375453363	978	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755103333 CA3952702	980	K>E		No	ClinGen ExAC TOPMed gnomAD
rs200799831 CA3952701	982	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3952698 rs144935133	983	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372475703 CA3952697	985	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs763955310 CA3952696	986	A>T		No	ClinGen ExAC gnomAD
CA365221175 rs1562285486	987	E>*		No	ClinGen Ensembl
rs1180413451 CA365221163	988	E>D		No	ClinGen gnomAD
rs775905056 CA3952694	990	E>K		No	ClinGen ExAC TOPMed
rs1020073671 CA145116467	994	T>M		No	ClinGen gnomAD
rs561895552 CA3952675	997	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA365221082 rs1228076041	999	N>Y		No	ClinGen gnomAD
rs751043924 CA3952674	1001	E>K		No	ClinGen ExAC TOPMed
rs1316110982 CA365221055	1003	K>E		No	ClinGen gnomAD
CA365221045 rs1337497569	1004	Q>P		No	ClinGen gnomAD
rs1307353624 CA365221022	1007	L>V		No	ClinGen gnomAD
CA365220996 rs1376820909	1010	E>D		No	ClinGen gnomAD
rs1415571196 CA365221002	1010	E>K		No	ClinGen TOPMed gnomAD
CA3952672 rs763358152	1011	L>P		No	ClinGen ExAC gnomAD
CA3952671 rs201978922	1012	R>*		No	ClinGen ExAC TOPMed gnomAD
CA365220990 rs201978922	1012	R>G		No	ClinGen ExAC TOPMed gnomAD
CA365220989 rs765492673	1012	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765492673 CA3952670	1012	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762129754 CA3952669	1013	G>D		No	ClinGen ExAC gnomAD
rs1456440586 CA365220986	1013	G>R		No	ClinGen gnomAD
rs201625082 CA3952667	1015	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952665 rs200636139	1017	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3952666 rs747238004	1017	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3952664 rs768171908	1018	E>K		No	ClinGen ExAC gnomAD
CA365219417 rs1361433059	1021	L>V		No	ClinGen TOPMed gnomAD
rs1272421353 CA365219366	1023	T>I		No	ClinGen gnomAD
rs1307620453 CA365219344	1024	A>V		No	ClinGen gnomAD
rs1297256878 CA365219328	1026	D>H		No	ClinGen TOPMed gnomAD
rs368801401 CA365219306	1027	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3952643 rs769783667	1027	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368801401 CA3952644	1027	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA145116114 rs988255867	1029	A>G		No	ClinGen Ensembl
rs1304067320 CA365219267	1029	A>P		No	ClinGen TOPMed gnomAD
CA365219178 rs1474192429	1033	V>I		No	ClinGen TOPMed
CA365219095 rs1167882969	1037	L>P		No	ClinGen gnomAD
CA365219057 rs1582633509	1039	D>G		No	ClinGen Ensembl
rs754872205 CA3952640	1039	D>H		No	ClinGen ExAC gnomAD
CA3952639 rs150739904	1040	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA365218981 rs1387459887	1042	N>K		No	ClinGen TOPMed
rs866961527 CA145116103	1043	Q>R		No	ClinGen Ensembl
CA3952637 rs758014161	1045	D>N		No	ClinGen ExAC gnomAD
CA3952636 rs141577461	1049	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368885343 CA145116098	1049	R>H		No	ClinGen ESP TOPMed gnomAD
CA3952634 rs757758020	1051	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs764409138 CA3952632	1054	R>C		No	ClinGen ExAC TOPMed
CA3952630 COSM3393757 rs139807207	1054	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1230451323 CA365218863	1055	R>G		No	ClinGen TOPMed gnomAD
rs753025082 CA3952629	1056	L>I		No	ClinGen ExAC gnomAD
rs1562284943 CA365218852	1056	L>R		No	ClinGen Ensembl
rs145926073 CA3952628	1057	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs759678163 CA3952627	1058	E>K		No	ClinGen ExAC TOPMed gnomAD
rs886729300 CA145116010	1064	G>A		No	ClinGen TOPMed
rs376738671 CA3952622	1065	A>S		No	ClinGen ESP ExAC
CA3952621 rs371990353	1067	G>D		No	ClinGen ESP ExAC gnomAD
CA3952620 rs371990353	1067	G>V		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q8TDZ2

5 regional properties for Q8TDZ2

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	439 - 623	IPR000219
domain	SH3 domain	789 - 850	IPR001452
domain	Pleckstrin homology domain	655 - 784	IPR001849
domain	ARHGEF16/ARHGEF26, SH3 domain	793 - 847	IPR035797
domain	Ephexin-like, PH domain	643 - 781	IPR047270

Functions

		Description
EC Number	1.6.3.1	With oxygen as acceptor
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Endosome membrane Midbody	Accumulates transiently at the abscission site before abscission occurs Colocalized with GRAF1/ARHGAP26 and GRAF2/ARHGAP10, RAB8A, RAB8B and RAB10 on endosomal tubules (PubMed:32344433)
PANTHER Family	PTHR23167	CALPONIN HOMOLOGY DOMAIN-CONTAINING PROTEIN DDB_G0272472-RELATED
PANTHER Subfamily	PTHR23167:SF35	[F-ACTIN]-MONOOXYGENASE MICAL1
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
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.
hippocampal mossy fiber expansion	Synaptic expansion of hippocampal mossy fiber axon that makes contact with the thorny excrescences of hippocampal CA3 pyramidal cell dendrites.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

9 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
metal ion binding	Binding to a metal ion.
NAD(P)H oxidase H2O2-forming activity	Catalysis of the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide.
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from NADH or NADPH and one other donor, and one atom of oxygen is incorporated into one donor.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
small GTPase binding	Binding to a small monomeric GTPase.

8 GO annotations of biological process

Name	Definition
actin filament bundle assembly	The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.
actin filament depolymerization	Disassembly of actin filaments by the removal of actin monomers from a filament.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
regulation of regulated secretory pathway	Any process that modulates the frequency, rate or extent of regulated secretory pathway.
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.
sulfur oxidation	The chemical reactions and pathways resulting the addition of oxygen to elemental sulfur.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
F1MH07	MICAL1	[F-actin]-monooxygenase MICAL1	Bos taurus (Bovine)	SS
Q9BT23	LIMD2	LIM domain-containing protein 2	Homo sapiens (Human)	PR
Q8BGB5	Limd2	LIM domain-containing protein 2	Mus musculus (Mouse)	PR
Q9ERG0	Lima1	LIM domain and actin-binding protein 1	Mus musculus (Mouse)	PR
Q8VDP3	Mical1	[F-actin]-monooxygenase MICAL1	Mus musculus (Mouse)	EV
D3ZBP4	Mical1	[F-actin]-monooxygenase MICAL1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MASPTSTNPA	HAHFESFLQA	QLCQDVLSSF	QELCGALGLE	PGGGLPQYHK	IKDQLNYWSA
70	80	90	100	110	120
KSLWTKLDKR	AGQPVYQQGR	ACTSTKCLVV	GAGPCGLRVA	VELALLGARV	VLVEKRTKFS
130	140	150	160	170	180
RHNVLHLWPF	TIHDLRALGA	KKFYGRFCTG	TLDHISIRQL	QLLLLKVALL	LGVEIHWGVT
190	200	210	220	230	240
FTGLQPPPRK	GSGWRAQLQP	NPPAQLANYE	FDVLISAAGG	KFVPEGFKVR	EMRGKLAIGI
250	260	270	280	290	300
TANFVNGRTV	EETQVPEISG	VARIYNQSFF	QSLLKATGID	LENIVYYKDD	THYFVMTAKK
310	320	330	340	350	360
QCLLRLGVLR	QDWPDTNRLL	GSANVVPEAL	QRFTRAAADF	ATHGKLGKLE	FAQDAHGQPD
370	380	390	400	410	420
VSAFDFTSMM	RAESSARVQE	KHGARLLLGL	VGDCLVEPFW	PLGTGVARGF	LAAFDAAWMV
430	440	450	460	470	480
KRWAEGAESL	EVLAERESLY	QLLSQTSPEN	MHRNVAQYGL	DPATRYPNLN	LRAVTPNQVR
490	500	510	520	530	540
DLYDVLAKEP	VQRNNDKTDT	GMPATGSAGT	QEELLRWCQE	QTAGYPGVHV	SDLSSSWADG
550	560	570	580	590	600
LALCALVYRL	QPGLLEPSEL	QGLGALEATA	WALKVAENEL	GITPVVSAQA	VVAGSDPLGL
610	620	630	640	650	660
IAYLSHFHSA	FKSMAHSPGP	VSQASPGTSS	AVLFLSKLQR	TLQRSRAKEN	AEDAGGKKLR
670	680	690	700	710	720
LEMEAETPST	EVPPDPEPGV	PLTPPSQHQE	AGAGDLCALC	GEHLYVLERL	CVNGHFFHRS
730	740	750	760	770	780
CFRCHTCEAT	LWPGGYEQHP	GDGHFYCLQH	LPQTDHKAEG	SDRGPESPEL	PTPSENSMPP
790	800	810	820	830	840
GLSTPTASQE	GAGPVPDPSQ	PTRRQIRLSS	PERQRLSSLN	LTPDPEMEPP	PKPPRSCSAL
850	860	870	880	890	900
ARHALESSFV	GWGLPVQSPQ	ALVAMEKEEK	ESPFSSEEEE	EDVPLDSDVE	QALQTFAKTS
910	920	930	940	950	960
GTMNNYPTWR	RTLLRRAKEE	EMKRFCKAQT	IQRRLNEIEA	ALRELEAEGV	KLELALRRQS
970	980	990	1000	1010	1020
SSPEQQKKLW	VGQLLQLVDK	KNSLVAEEAE	LMITVQELNL	EEKQWQLDQE	LRGYMNREEN
1030	1040	1050	1060
LKTAADRQAE	DQVLRKLVDL	VNQRDALIRF	QEERRLSELA	LGTGAQG