AiPD: Autoinhibited Protein Database

P46934

Gene name	NEDD4 (KIAA0093, NEDD4-1, PIG53)
Protein name	E3 ubiquitin-protein ligase NEDD4
Names	Cell proliferation-inducing gene 53 protein, HECT-type E3 ubiquitin transferase NEDD4, Neural precursor cell expressed developmentally down-regulated protein 4, NEDD-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4734
EC number	2.3.2.26: Aminoacyltransferases
Protein Class	HECT DOMAIN UBIQUITIN-PROTEIN LIGASE (PTHR11254)

Descriptions

The C2-WW-HECT-domain E3 proteins downregulates transforming growth factor-β (TGF-β) signaling by targeting itself, the adaptor protein Smad7, and TGF-β receptor kinases for degradation. Like Smurf2, which has been shown to be inhibited by intramolecular binding of the HECT domain to the C2 domain, the full-length ITCH, Nedd4 and WWP2 enzymes show low levels of ubiquitination. The level is significantly enhanced by deleting the C2 domain. Removal of the C2 domain (ΔN140) from NEDD4 greatly increased its activity in vitro, as judged by its self-ubiquitination, and it could not be stimulated further by NDFIP1.

Autoinhibitory domains (AIDs)

Target domain	962-1318 (HECT domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

1-140 (C2 domain)

Target domain

962-1318 (HECT domain)

Relief mechanism

Partner binding (Binding of NDFIP PY motif to the WW domain in NEDD4)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Mund T et al. (2009) "Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins", EMBO reports, 10, 501-7

Wiesner S et al. (2007) "Autoinhibition of the HECT-type ubiquitin ligase Smurf2 through its C2 domain", Cell, 130, 651-62

Autoinhibited structure

Activated structure

14 structures for P46934

Entry ID	Method	Resolution	Chain	Position	Source
2KPZ	NMR	-	A	834-878	PDB
2KQ0	NMR	-	A	834-878	PDB
2M3O	NMR	-	W	838-877	PDB
2XBB	X-ray	268 A	A/B	938-1319	PDB
2XBF	X-ray	250 A	A	938-1319	PDB
3B7Y	X-ray	180 A	A/B	517-571	PDB
4BBN	X-ray	251 A	A	938-1319	PDB
4BE8	X-ray	300 A	A	938-1319	PDB
4N7F	X-ray	110 A	A/B	841-874	PDB
4N7H	X-ray	170 A	A	840-872	PDB
5AHT	NMR	-	A	838-877	PDB
5C7J	X-ray	300 A	A/B	939-1319	PDB
5C91	X-ray	244 A	A	938-1312	PDB
AF-P46934-F1	Predicted				AlphaFoldDB

1011 variants for P46934

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7577703 rs186893284	2	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA7577701 rs755437949	4	S>N		No	ClinGen ExAC gnomAD
CA7577702 rs767778293	4	S>R		No	ClinGen ExAC gnomAD
CA7577700 rs150200430	6	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA392574632 rs763526606	7	L>M		No	ClinGen ExAC TOPMed gnomAD
CA7577697 rs150752813	10	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392574602 rs1250155243	11	A>S		No	ClinGen gnomAD
rs1177832509 CA392574591	13	R>G		No	ClinGen gnomAD
CA392574581 rs1595842810	14	S>N		No	ClinGen Ensembl
COSM3936791 CA392574578 rs1459111937	14	S>R	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA392574571 rs1251237982	15	N>I		No	ClinGen gnomAD
rs199985462 CA7577695	16	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs199985462 CA7577696	16	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577692 rs745716311	17	Y>*		No	ClinGen ExAC gnomAD
CA7577693 rs768753371	17	Y>H		No	ClinGen ExAC gnomAD
rs774110123 CA392574557	18	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1305899766 CA392574555	18	P>R		No	ClinGen gnomAD
rs774110123 CA7577691	18	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770893318 CA7577690	19	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7577688 rs777164391	22	T>I		No	ClinGen ExAC gnomAD
rs1451425450 CA392574519	24	G>A		No	ClinGen gnomAD
rs747608721 CA7577686	24	G>R		No	ClinGen ExAC gnomAD
CA392574522 rs747608721	24	G>R		No	ClinGen ExAC gnomAD
rs146972216 CA7577684	25	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs780956620 CA7577685	25	D>H		No	ClinGen ExAC
rs564085223 CA7577682	28	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs115484917 RCV000971407 CA7577681	29	S>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1393273455 CA392574484	29	S>T		No	ClinGen gnomAD
rs147836888 CA7577680	30	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335943382 CA392574480	30	H>Y		No	ClinGen TOPMed
rs1399351843 CA392574467	32	H>Y		No	ClinGen TOPMed
rs753844653 CA7577677	33	M>K		No	ClinGen ExAC TOPMed gnomAD
rs753844653 CA392574459	33	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7577678 VAR_061985 rs1912403	33	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1200810071 CA392574452	34	C>G		No	ClinGen TOPMed gnomAD
rs1200810071 CA392574454	34	C>S		No	ClinGen TOPMed gnomAD
CA7577676 rs764424614	40	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764424614 CA270855240	40	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760855804 CA7577675	42	S>A		No	ClinGen ExAC
rs148700559 CA7577674	43	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267139663 CA392574386	44	S>F		No	ClinGen Ensembl
CA7577672 rs762883853	46	V>A		No	ClinGen ExAC gnomAD
rs769606361 CA7577670	49	M>V		No	ClinGen ExAC gnomAD
rs747744115 CA7577669	51	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1279795316 CA392574329	53	P>H		No	ClinGen TOPMed
rs780541241 CA7577668	54	R>G		No	ClinGen ExAC gnomAD
CA7577667 rs768458263	54	R>I		No	ClinGen ExAC gnomAD
CA7577666 rs746614127	55	Q>*		No	ClinGen ExAC gnomAD
CA392574321 rs746614127	55	Q>E		No	ClinGen ExAC gnomAD
rs746614127 CA392574320	55	Q>K		No	ClinGen ExAC gnomAD
CA392574318 rs1192178612	55	Q>R		No	ClinGen TOPMed
CA7577663 rs773946670	60	P>L		No	ClinGen ExAC gnomAD
rs561683117 CA392574290	60	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561683117 CA7577664	60	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577661 rs779528586	62	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1489060840 CA392574273	63	K>E		No	ClinGen gnomAD
RCV000879872 CA7577660 rs80077833	65	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7577659 COSM2149456 rs753990774	66	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753990774 CA392574251	66	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7577658 rs767985180	67	Q>*		No	ClinGen ExAC gnomAD
rs1225058553 CA392574236	68	S>F		No	ClinGen gnomAD
rs1325850419 CA392574229	69	Q>R		No	ClinGen gnomAD
RCV000882268 rs111308798 CA7577656	70	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1595842296 CA392574218	71	R>G		No	ClinGen Ensembl
CA270855174 rs1008965151	71	R>I		No	ClinGen Ensembl
CA7577654 rs377587799	72	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577653 rs377587799	72	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377587799 CA7577655	72	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404374468 CA392574208	73	S>A		No	ClinGen TOPMed gnomAD
CA392574209 rs1404374468	73	S>P		No	ClinGen TOPMed gnomAD
rs1461917957 CA392574199	74	V>A		No	ClinGen gnomAD
rs1166235065 CA392574201	74	V>F		No	ClinGen gnomAD
rs769814730 CA7577652	77	S>P		No	ClinGen ExAC gnomAD
rs370536170 CA7577651	80	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs776230389 CA7577650	83	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1284901257 CA392574125	85	S>N		No	ClinGen gnomAD
CA7577649 rs768227070	88	Q>K		No	ClinGen ExAC
rs1438808840 CA392574096	89	I>T		No	ClinGen Ensembl
rs377041774 CA7577648	90	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577645 rs746289497	91	L>P		No	ClinGen ExAC gnomAD
rs1257652716 CA392574087	91	L>V		No	ClinGen TOPMed gnomAD
CA7577643 rs372470866	92	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749707107 CA7577641	94	T>A		No	ClinGen ExAC gnomAD
rs1332346735 CA392574065	95	R>G		No	ClinGen gnomAD
rs146216406 CA392574064	95	R>K		No	ClinGen ESP ExAC gnomAD
CA7577640 rs146216406	95	R>T		No	ClinGen ESP ExAC gnomAD
rs752762351 CA392574052	97	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7577638 rs752762351	97	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1595842108 CA392574042	98	G>E		No	ClinGen Ensembl
rs370123066 CA7577636	99	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA270855037 rs1038017230	102	S>T		No	ClinGen Ensembl
CA270855034 rs947694312	103	S>N		No	ClinGen gnomAD
rs761825528 CA392574006	104	N>D		No	ClinGen ExAC TOPMed gnomAD
rs761825528 CA7577633	104	N>H		No	ClinGen ExAC TOPMed gnomAD
CA7577632 rs373763592	104	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319509937 CA392573998	105	V>F		No	ClinGen gnomAD
CA392573991 rs1566950461	106	L>S		No	ClinGen Ensembl
rs760317333 CA7577630	109	S>R		No	ClinGen ExAC gnomAD
CA392573958 rs1369885226	111	D>N		No	ClinGen gnomAD
CA270855024 rs1056638058	113	S>L		No	ClinGen gnomAD
rs745470209 CA392573925	116	C>R		No	ClinGen ExAC TOPMed gnomAD
rs745470209 CA7577627	116	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7577625 rs771141153	117	I>M		No	ClinGen ExAC TOPMed gnomAD
rs774801098 CA7577626	117	I>V		No	ClinGen ExAC gnomAD
CA7577623 rs778313132	120	D>A		No	ClinGen ExAC TOPMed gnomAD
CA7577624 rs369468383	120	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577622 rs756591358	121	G>V		No	ClinGen ExAC gnomAD
CA270854973 rs977885064	122	I>V		No	ClinGen Ensembl
CA7577621 rs748268494	124	S>N		No	ClinGen ExAC gnomAD
rs1439331508 CA392573861	125	S>I		No	ClinGen gnomAD
CA392573862 rs1439331508	125	S>T		No	ClinGen gnomAD
CA392573834 rs1595841917	129	D>E		No	ClinGen Ensembl
CA7577619 rs150886795	129	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA270854971 rs915133544	130	N>D		No	ClinGen TOPMed gnomAD
rs1354805576 CA392573825	131	E>Q		No	ClinGen TOPMed
CA392573813 rs1383298197	132	L>F		No	ClinGen gnomAD
CA392573797 rs765087838	135	V>L		No	ClinGen ExAC gnomAD
rs765087838 CA7577617	135	V>M		No	ClinGen ExAC gnomAD
CA270854946 rs974645553	136	N>D		No	ClinGen TOPMed
rs757064359 CA7577616	137	D>G		No	ClinGen ExAC gnomAD
CA392573778 rs1380306847	138	G>S		No	ClinGen TOPMed gnomAD
rs1595841858 CA392573770	139	H>P		No	ClinGen Ensembl
rs753670752 CA7577615	139	H>Y		No	ClinGen ExAC gnomAD
CA7577613 rs145779563	140	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145779563 CA7577614	140	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577612 rs141563734	141	V>L		No	ClinGen ExAC TOPMed gnomAD
rs568199003 CA7577611	142	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7577610 rs759238280	144	P>S		No	ClinGen ExAC gnomAD
CA7577609 rs773807279	146	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770605800 CA7577608	147	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1207080225 CA392573715	148	S>C		No	ClinGen TOPMed gnomAD
rs1207080225 CA392573716	148	S>G		No	ClinGen TOPMed gnomAD
CA7577606 rs773536264	149	G>A		No	ClinGen ExAC gnomAD
rs763277370 CA7577607	149	G>S		No	ClinGen ExAC gnomAD
CA392573702 rs1462776588	150	S>N		No	ClinGen gnomAD
CA392573698 rs1439246161	150	S>R		No	ClinGen gnomAD
CA7577604 rs748609751	153	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7577605 rs748609751	153	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1009433132 CA270854864	155	S>L		No	ClinGen Ensembl
rs1293614924 CA392573669	155	S>T		No	ClinGen TOPMed
rs781266666 CA7577603	156	T>A		No	ClinGen ExAC gnomAD
rs781266666 CA392573664	156	T>P		No	ClinGen ExAC gnomAD
CA392573661 rs1398853283	156	T>S		No	ClinGen TOPMed
rs747111533 CA7577601	157	S>R		No	ClinGen ExAC gnomAD
rs780195861 CA7577600	160	G>V		No	ClinGen ExAC gnomAD
rs751173711 CA7577599	162	Y>*		No	ClinGen ExAC
CA392573619 rs1332908993	162	Y>*		No	ClinGen TOPMed
rs1378165209 CA392573612	163	S>I		No	ClinGen TOPMed
CA270854857 rs950800107 COSM1373662	164	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1240081155 CA392573592	166	G>A		No	ClinGen gnomAD
RCV000960951 COSM147923 CA7577597 rs12593255	166	G>S	stomach [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs777667904 CA7577596	167	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7577595 rs756142113	170	G>R		No	ClinGen ExAC gnomAD
CA7577594 rs752623801	171	S>L		No	ClinGen ExAC gnomAD
rs1595841579 CA392573549	172	C>W		No	ClinGen Ensembl
CA270854818 rs1044655521	173	A>T		No	ClinGen Ensembl
rs1246084034 CA392573544	173	A>V		No	ClinGen TOPMed
CA7577593 rs371735605	176	T>A		No	ClinGen ExAC gnomAD
rs1257514263 CA392573522	177	S>G		No	ClinGen TOPMed
CA7577591 rs375873855	178	G>E		No	ClinGen ESP ExAC gnomAD
rs367875084 CA7577592	178	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs765987672 CA7577589	179	G>D		No	ClinGen ExAC
COSM673834 rs566693662 CA7577588	181	Y>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA392573490 rs1401044689	182	T>N		No	ClinGen gnomAD
rs1238985600 CA392573486	183	N>D		No	ClinGen TOPMed
rs1238985600 CA392573485	183	N>Y		No	ClinGen TOPMed
rs1595841508 CA392573476	184	S>T		No	ClinGen Ensembl
rs143372577 RCV000957278 CA7577586	185	V>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1412566860 CA392573456	187	S>N		No	ClinGen TOPMed gnomAD
CA7577585 rs762314172	189	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7577583 rs113176671	189	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270854780 rs371369154	191	S>C		No	ClinGen ESP gnomAD
CA7577582 rs747104209	191	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772211814 CA392573412	193	T>N		No	ClinGen ExAC TOPMed gnomAD
CA7577580 rs772211814	193	T>S		No	ClinGen ExAC TOPMed gnomAD
rs777723315 CA7577578	197	S>N		No	ClinGen ExAC gnomAD
rs368960297 CA7577579	197	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA270854755 rs867309477	199	D>N		No	ClinGen TOPMed gnomAD
CA392573362 rs1212407536	200	T>I		No	ClinGen TOPMed gnomAD
rs1212407536 CA392573364	200	T>S		No	ClinGen TOPMed gnomAD
rs939106380 CA270854753	205	N>K		No	ClinGen TOPMed
rs1397141575 CA392573285	206	L>F		No	ClinGen TOPMed
CA7577576 rs371061106	208	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577575 rs781042067	209	D>H		No	ClinGen ExAC gnomAD
CA392573224 rs1219515310	211	T>N		No	ClinGen TOPMed
CA392573222 rs1219515310	211	T>S		No	ClinGen TOPMed
CA392573194 rs1259025853	213	N>K		No	ClinGen TOPMed
CA7577574 rs754915551	213	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7577573 rs751063547	215	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1208217249 CA392573159	216	V>A		No	ClinGen TOPMed
COSM276296 rs1254056688 CA392573155	217	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA7577572 rs765864949	218	N>D		No	ClinGen ExAC gnomAD
rs1302890858 CA392573123	222	T>P		No	ClinGen gnomAD
rs1449650774 CA392573112	223	P>L		No	ClinGen gnomAD
CA392573106 rs1330546978	224	C>F		No	ClinGen gnomAD
rs946561132 CA270854718	227	F>L		No	ClinGen gnomAD
CA270854700 rs368324825	229	R>G		No	ClinGen ESP TOPMed
CA392573066 rs1476586889	230	S>N		No	ClinGen TOPMed
rs1476586889 CA392573065	230	S>T		No	ClinGen TOPMed
CA392573056 rs1423458075	231	T>I		No	ClinGen gnomAD
rs750015988 CA7577568	233	T>A		No	ClinGen ExAC gnomAD
CA7577567 rs764868716	233	T>I		No	ClinGen ExAC
rs750015988 CA392573047	233	T>P		No	ClinGen ExAC gnomAD
CA7577566 rs762226166	234	D>N		No	ClinGen ExAC gnomAD
rs199530416 CA270854663	234	D>V		No	ClinGen 1000Genomes
rs1173207258 CA392573027	236	F>S		No	ClinGen gnomAD
CA392573004 rs1459488295	239	D>V		No	ClinGen TOPMed gnomAD
CA392572985 rs1271639910	242	E>Q		No	ClinGen gnomAD
rs764547361 CA7577564	242	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7577563 rs761200090	248	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775452036 CA7577562	249	K>*		No	ClinGen ExAC TOPMed gnomAD
CA392572935 rs775452036	249	K>E		No	ClinGen ExAC TOPMed gnomAD
CA270854651 rs550762257	251	P>S		No	ClinGen 1000Genomes
CA7577561 rs772132686	259	P>L		No	ClinGen ExAC gnomAD
CA392572851 rs1402457449	261	K>I		No	ClinGen TOPMed gnomAD
COSM963153 rs746091972 CA7577560	262	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774779717 CA7577559	262	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1217727367 CA392572841	263	Y>C		No	ClinGen TOPMed
CA392572839 rs1217727367	263	Y>F		No	ClinGen TOPMed
rs1167129148 CA392572825	265	S>F		No	ClinGen gnomAD
CA270854617 rs753937911	266	L>S		No	ClinGen TOPMed
CA392572818 rs1379705011	267	V>I		No	ClinGen gnomAD
rs138346814 CA7577557	268	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285301104 CA392572805	269	F>L		No	ClinGen TOPMed
CA7577556 rs147060928	270	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141692030 CA392572788	271	R>S		No	ClinGen ESP TOPMed gnomAD
CA270854590 rs987453271	272	S>R		No	ClinGen Ensembl
rs757974612 CA7577553	272	S>R		No	ClinGen ExAC TOPMed gnomAD
CA270854585 rs766915892	274	S>L		No	ClinGen TOPMed gnomAD
CA392572768 rs1267613285	275	T>A		No	ClinGen TOPMed gnomAD
rs1455020984 CA392572762	276	T>A		No	ClinGen TOPMed
CA392572758 rs1223238496	276	T>I		No	ClinGen TOPMed gnomAD
CA392572760 rs1223238496	276	T>N		No	ClinGen TOPMed gnomAD
CA7577551 rs749926103	277	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756868539 CA7577549	277	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756868539 CA7577550	277	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754182996 CA7577548	278	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1349417061 CA392572739	280	S>F		No	ClinGen TOPMed
CA392572731 rs761098352	282	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7577546 rs761098352	282	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7577544 rs768133386	283	S>T		No	ClinGen ExAC gnomAD
rs1421541316 CA392572699	287	L>F		No	ClinGen TOPMed gnomAD
rs1421541316 CA392572701	287	L>I		No	ClinGen TOPMed gnomAD
rs774542665 CA7577542	288	L>P		No	ClinGen ExAC gnomAD
CA7577541 rs749479659	289	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7577540 rs749479659	289	S>N		No	ClinGen ExAC TOPMed gnomAD
rs768434224 CA7577538	291	G>E		No	ClinGen ExAC gnomAD
CA392572677 rs140869235	291	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs140869235 CA7577539	291	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392572669 rs1218724919	292	S>F		No	ClinGen TOPMed
rs370666865 CA7577537	294	Q>P		No	ClinGen ESP ExAC gnomAD
CA392572649 rs1595840877	295	T>I		No	ClinGen Ensembl
CA392572628 rs1216912410	298	Q>R		No	ClinGen gnomAD
CA392572612 rs1253743526	300	I>T		No	ClinGen TOPMed gnomAD
rs1177569088 CA392572615	300	I>V		No	ClinGen TOPMed
CA7577534 rs745418424	301	I>T		No	ClinGen ExAC gnomAD
rs778350213 CA7577533	302	S>C		No	ClinGen ExAC gnomAD
rs753469187 CA7577531	303	P>L		No	ClinGen ExAC gnomAD
CA7577532 rs756923683	303	P>S		No	ClinGen ExAC TOPMed gnomAD
CA392572566 rs1402090531	307	A>V		No	ClinGen TOPMed gnomAD
RCV000957277 CA7577528 rs73416291 COSM32531	308	H>Y	breast [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA270854483 rs376377663	309	N>D		No	ClinGen ESP ExAC TOPMed
CA7577527 rs376377663	309	N>H		No	ClinGen ESP ExAC TOPMed
CA392572533 rs760080515	312	G>D		No	ClinGen ExAC gnomAD
rs760080515 COSM1517397 CA7577526	312	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs557164698 CA7577524	314	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577523 rs763092733	315	A>V		No	ClinGen ExAC gnomAD
CA7577522 rs773552466	316	K>E		No	ClinGen ExAC TOPMed gnomAD
CA392572503 rs1253443039	317	G>E		No	ClinGen gnomAD
CA7577520 rs760570616	318	F>L		No	ClinGen ExAC gnomAD
CA7577519 rs139098949	322	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392572471 rs1257644582	322	A>V		No	ClinGen gnomAD
rs1280123235 CA392572470	323	V>I		No	ClinGen TOPMed
rs1226480924 CA392572464	324	N>H		No	ClinGen TOPMed
CA7577517 rs745754852	324	N>S		No	ClinGen ExAC TOPMed gnomAD
CA392572452 rs1220683293	325	G>A		No	ClinGen gnomAD
rs770359798 CA392572444	327	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770359798 CA7577515	327	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7577516 COSM1708197 rs574637810	327	R>W	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1459418983 CA392572428	330	K>E		No	ClinGen TOPMed
CA7577512 rs777540474	334	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777540474 CA392572396	334	T>N		No	ClinGen ExAC TOPMed gnomAD
rs755700341 CA7577511	335	P>L		No	ClinGen ExAC
rs781648726 CA7577509	336	G>R		No	ClinGen ExAC TOPMed gnomAD
CA392572384 rs1465141428	337	E>K		No	ClinGen TOPMed
rs755557199 CA7577508	339	R>G		No	ClinGen ExAC
rs752047492 CA7577507	339	R>T		No	ClinGen ExAC gnomAD
rs1038854014 CA270854422	340	D>N		No	ClinGen Ensembl
CA7577506 rs763153587	341	I>M		No	ClinGen ExAC gnomAD
CA392572355 rs1411516750	341	I>T		No	ClinGen TOPMed
rs1402710682 CA392572357	341	I>V		No	ClinGen TOPMed
CA7577502 rs146680025	342	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370701101 CA7577503	342	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577500 rs775281778	343	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759472034 CA7577498	348	G>C		No	ClinGen ExAC TOPMed gnomAD
rs774337431 CA7577497	348	G>D		No	ClinGen ExAC gnomAD
rs777115663 CA7577494	349	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7577491 rs781694615	351	Q>R		No	ClinGen ExAC gnomAD
rs1342272130 CA392572293	352	K>E		No	ClinGen gnomAD
rs755463962 CA392572271	354	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7577487 COSM262377 rs780759541	357	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7577488 rs780759541	357	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1475878433 CA392572237	360	T>A		No	ClinGen TOPMed
rs750543991 CA7577485	360	T>N		No	ClinGen ExAC gnomAD
rs1390510326 CA392572231	361	P>A		No	ClinGen gnomAD
CA7577484 rs765177148	361	P>L		No	ClinGen ExAC gnomAD
rs753990240 CA392572222	362	R>S		No	ClinGen ExAC gnomAD
rs1172173509 CA392572214	363	Q>H		No	ClinGen TOPMed
CA392572211 rs1401283358	364	T>S		No	ClinGen TOPMed
CA7577480 rs759382318	365	V>D		No	ClinGen ExAC TOPMed gnomAD
CA392572207 rs1412521972	365	V>I		No	ClinGen TOPMed
CA392572206 rs1412521972	365	V>L		No	ClinGen TOPMed
CA392572190 rs1308687215	367	E>G		No	ClinGen gnomAD
rs774110266 CA7577478	368	K>E		No	ClinGen ExAC gnomAD
rs766379331 CA7577477	369	S>P		No	ClinGen ExAC gnomAD
CA392572168 rs1210597477	371	E>K		No	ClinGen gnomAD
rs769121315 CA7577475	374	S>C		No	ClinGen ExAC gnomAD
rs769121315 CA7577474	374	S>Y		No	ClinGen ExAC gnomAD
rs79970170 CA7577472	375	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79970170 CA7577473	375	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs539741344 CA7577471	378	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA392572115 rs1566949452	379	H>R		No	ClinGen Ensembl
CA7577470 rs747423211	380	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7577469 rs191943171	381	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392572096 rs1306760825	382	Q>P		No	ClinGen gnomAD
CA392572095 rs1306760825	382	Q>R		No	ClinGen gnomAD
rs201712441 CA7577468	383	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs746298752 CA7577467	383	R>Q		No	ClinGen ExAC gnomAD
CA7577466 rs779052346	385	A>V		No	ClinGen ExAC TOPMed gnomAD
CA392572068 rs1380409670	387	T>A		No	ClinGen gnomAD
rs757391564 CA7577465	389	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1245897993 CA392572020	394	N>D		No	ClinGen TOPMed gnomAD
rs1215026193 CA392572002 COSM1678488	396	D>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs753900700 CA7577464	397	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1447623629 CA392571942	404	I>S		No	ClinGen TOPMed
CA7577462 rs62043855	407	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62043855 CA7577463	407	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7577460 rs550750549	409	D>A		No	ClinGen ExAC gnomAD
rs751385882 CA7577461	409	D>N		No	ClinGen ExAC gnomAD
CA7577459 rs550750549	409	D>V		No	ClinGen ExAC gnomAD
rs1476959624 CA392571905	410	S>*		No	ClinGen TOPMed
rs762438964 CA270854181	411	E>K		No	ClinGen Ensembl
rs1217966807 CA392571895	412	Y>H		No	ClinGen TOPMed gnomAD
rs1275779873 CA392571883	413	I>M		No	ClinGen gnomAD
CA7577457 rs115738078	413	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761461190 CA7577456	415	L>I		No	ClinGen ExAC gnomAD
rs1338932495 CA392571865	416	M>T		No	ClinGen gnomAD
CA392571859 rs1295920559	417	H>D		No	ClinGen gnomAD
rs373006751 CA7577455	417	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768458391 CA7577454	418	R>G		No	ClinGen ExAC
CA7577453 rs368941612	418	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412682274 CA392571847	419	T>A		No	ClinGen gnomAD
CA392571839 rs188669610	420	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA270854155 rs188669610	420	S>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs150693011 CA270854154	425	S>A		No	ClinGen ESP TOPMed
CA392571801 rs1488775969	426	S>C		No	ClinGen gnomAD
rs1488775969 CA392571800	426	S>F		No	ClinGen gnomAD
CA392571798 rs772255151	427	Q>*		No	ClinGen ExAC TOPMed
CA7577450 rs772255151	427	Q>E		No	ClinGen ExAC TOPMed
CA392571783 rs1304640947	429	V>I		No	ClinGen TOPMed
rs1265426095 CA392571778	430	D>N		No	ClinGen TOPMed gnomAD
rs201413155 CA270854144	431	C>F		No	ClinGen TOPMed
CA7577449 rs746236564	433	I>V		No	ClinGen ExAC TOPMed gnomAD
rs757737588 CA7577447	434	N>S		No	ClinGen ExAC gnomAD
rs779344599 CA7577448	434	N>Y		No	ClinGen ExAC gnomAD
rs749409580 CA392571739	435	I>S		No	ClinGen ExAC TOPMed gnomAD
rs749409580 CA7577446	435	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7577445 COSM3719492 rs777790906	436	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7577444 rs535681819	437	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577442 rs781473504	443	H>L		No	ClinGen ExAC gnomAD
rs758187870 CA7577441	443	H>Q		No	ClinGen ExAC gnomAD
rs1358089034 CA392571675	445	Q>*		No	ClinGen TOPMed gnomAD
CA7577440 rs750212142	447	N>S		No	ClinGen ExAC gnomAD
CA7577439 rs765130145	448	K>T		No	ClinGen ExAC gnomAD
RCV000881841 rs60811367 CA7577437	451	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7577438 rs60811367	451	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270854101 rs1051706806	453	L>F		No	ClinGen gnomAD
CA392571614 rs1051706806	453	L>F		No	ClinGen gnomAD
rs1169783058 CA392571616	453	L>S		No	ClinGen gnomAD
rs867678028 CA270854096	454	R>*		No	ClinGen gnomAD
COSM1478212 CA270854090 rs919291836	454	R>Q	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA392571599 rs1472486039	456	S>T		No	ClinGen gnomAD
CA392571585 rs1206060153	458	S>*		No	ClinGen gnomAD
rs771740195 CA7577433	462	A>V		No	ClinGen ExAC gnomAD
rs771459099 CA7577430	464	P>A		No	ClinGen ExAC gnomAD
rs543656596 CA7577429	464	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA392571549 COSM1258942 rs771459099	464	P>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7577428 rs147466701	465	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs769928568 CA392571528	467	S>F		No	ClinGen ExAC gnomAD
rs1595839653 CA392571531	467	S>P		No	ClinGen Ensembl
rs769928568 CA7577427	467	S>Y		No	ClinGen ExAC gnomAD
rs1326132706 CA392571510	470	S>C		No	ClinGen TOPMed
CA7577424 rs755198991	475	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1353626831 CA392571469	476	C>G		No	ClinGen gnomAD
CA392571457 rs1309873166	478	K>E		No	ClinGen TOPMed
rs200370285 CA7577423	479	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1318058229 CA392571447	479	G>R		No	ClinGen TOPMed
rs753758689 CA7577420	480	G>E		No	ClinGen ExAC TOPMed gnomAD
rs146902633 CA270854017	480	G>R		No	ClinGen 1000Genomes TOPMed
CA7577421 rs753758689	480	G>V		No	ClinGen ExAC TOPMed gnomAD
CA392571430 rs1438349132	482	S>F		No	ClinGen gnomAD
CA7577418 rs368417413	486	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759188409 CA7577415	491	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7577416 rs759188409	491	G>V		No	ClinGen ExAC TOPMed gnomAD
rs771218289 CA7577413	494	G>D		No	ClinGen ExAC gnomAD
rs774601282 CA270854004	494	G>R		No	ClinGen ExAC gnomAD
rs774601282 CA7577414	494	G>S		No	ClinGen ExAC gnomAD
rs1289939841 CA392571339	496	V>A		No	ClinGen gnomAD
CA270853975 rs375697799	497	D>G		No	ClinGen ESP
rs763303790 CA7577412	497	D>H		No	ClinGen ExAC gnomAD
CA392571336 rs763303790	497	D>Y		No	ClinGen ExAC gnomAD
CA392571327 rs1321289326	498	N>S		No	ClinGen TOPMed
CA392571320 rs1419612722	499	L>S		No	ClinGen TOPMed
CA392571312 rs1308394052	500	S>*		No	ClinGen TOPMed gnomAD
rs1308394052 CA392571311	500	S>L		No	ClinGen TOPMed gnomAD
rs1462541011 CA392571294	503	S>G		No	ClinGen TOPMed
rs770265553 CA7577410	503	S>R		No	ClinGen ExAC TOPMed gnomAD
CA392571284 rs1375184902	504	N>S		No	ClinGen gnomAD
rs373913900 CA7577409	506	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577406 rs747201464	507	C>*		No	ClinGen ExAC TOPMed gnomAD
rs768786409 CA7577407	507	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA392571237 COSM3744671 rs1395994606	509	N>S	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA392571221 rs1357500275	511	L>P		No	ClinGen TOPMed
rs778852331 CA7577405	512	S>P		No	ClinGen ExAC gnomAD
rs1010554406 CA270853944	513	N>S		No	ClinGen Ensembl
CA7577403 rs780291170	515	C>*		No	ClinGen ExAC gnomAD
CA7577404 rs757181958	515	C>Y		No	ClinGen ExAC gnomAD
CA7577402 rs749075110	516	K>E		No	ClinGen ExAC gnomAD
CA270863651 rs886820949	522	L>Q		No	ClinGen TOPMed
CA270863648 rs1026830287	524	Q>H		No	ClinGen TOPMed
CA392571130 rs1199745866	525	V>A		No	ClinGen gnomAD
rs1264741089 CA392571117	527	V>G		No	ClinGen gnomAD
CA392571113 rs1595780422	528	P>A		No	ClinGen Ensembl
CA270863640 rs995722051	528	P>L		No	ClinGen TOPMed
CA7577390 rs762335961	529	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7577389 rs776591678	530	Y>N		No	ClinGen ExAC gnomAD
CA392571092 rs1392233453	531	P>L		No	ClinGen TOPMed
CA392571088 rs1229895007	532	L>S		No	ClinGen gnomAD
CA7577385 rs577812785	533	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577386 rs775908801	533	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775908801 CA392571084	533	P>T		No	ClinGen ExAC TOPMed gnomAD
CA392571060 rs1336662656	535	E>A		No	ClinGen TOPMed gnomAD
rs750812606 CA7577372	537	P>L		No	ClinGen ExAC gnomAD
rs968396178 CA270863018	541	R>G		No	ClinGen Ensembl
CA7577370 rs141693007	541	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577369 rs777257673	543	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1386567333 CA392571008	543	Y>H		No	ClinGen gnomAD
rs1439073297 CA392571001	544	T>A		No	ClinGen gnomAD
rs1171360554 CA392570997	544	T>I		No	ClinGen TOPMed
CA7577368 rs764492205	545	F>S		No	ClinGen ExAC gnomAD
CA7577367 rs760883663	546	K>T		No	ClinGen ExAC TOPMed gnomAD
CA392570980 rs1450058583	547	D>Y		No	ClinGen gnomAD
COSM1217012 CA7577366 rs775677768	549	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392570959 rs1223539666	550	L>I		No	ClinGen gnomAD
CA392570952 rs1476971934	551	H>P		No	ClinGen gnomAD
CA392570953 rs1453841673	551	H>Y		No	ClinGen TOPMed
CA392570894 rs1566922322	557	S>*		No	ClinGen Ensembl
CA392570892 rs1477079513	558	R>G		No	ClinGen TOPMed
CA7577352 rs778430347	558	R>S		No	ClinGen ExAC gnomAD
rs757702188 CA7577351	559	V>D		No	ClinGen ExAC gnomAD
CA392570870 rs1223744898	561	G>V		No	ClinGen gnomAD
CA7577350 rs754133817	562	Y>C		No	ClinGen ExAC gnomAD
rs764705242 CA7577349	568	T>A		No	ClinGen ExAC gnomAD
rs761225711 CA7577348	568	T>S		No	ClinGen ExAC gnomAD
rs1412700654 CA392570821	569	Y>H		No	ClinGen TOPMed gnomAD
CA7577345 rs759843153	571	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767648342 CA7577346	571	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1186181638 CA392570803	572	K>Q		No	ClinGen gnomAD
CA7577344 rs370340599	574	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392570787 rs1363087020	574	S>N		No	ClinGen gnomAD
CA7577342 rs761706901	578	D>N		No	ClinGen ExAC gnomAD
CA392570736 rs1264111782	581	A>V		No	ClinGen gnomAD
rs1455868709 CA392570729	582	E>D		No	ClinGen Ensembl
CA7577340 rs768601149	582	E>G		No	ClinGen ExAC gnomAD
CA7577341 rs776247859	582	E>K		No	ClinGen ExAC gnomAD
rs1279890566 CA392570725	583	Q>*		No	ClinGen TOPMed
rs1279890566 CA392570727	583	Q>K		No	ClinGen TOPMed
rs183827307 CA7577339	584	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779539984 CA7577338	585	E>K		No	ClinGen ExAC gnomAD
rs200302839 RCV000895241 CA7577337	588	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA270858670 rs369181075	592	V>I		No	ClinGen Ensembl
CA392570511 rs546489584	593	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577316 rs546489584	593	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1054681504 CA270858658	594	L>S		No	ClinGen Ensembl
CA7577315 rs748835437	596	Q>E		No	ClinGen ExAC gnomAD
rs1438445619 CA392570470	596	Q>L		No	ClinGen TOPMed gnomAD
CA392570471 rs1438445619	596	Q>R		No	ClinGen TOPMed gnomAD
CA392570448 rs1250247897	598	D>G		No	ClinGen gnomAD
CA392570441 rs1566918128	599	A>T		No	ClinGen Ensembl
rs1178180859 CA392570433	600	A>S		No	ClinGen gnomAD
rs149088239 CA7577314	602	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577313 rs756614123	603	L>F		No	ClinGen ExAC TOPMed gnomAD
rs936356675 CA270858617	604	Q>R		No	ClinGen TOPMed
CA7577312 rs138063015	605	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392570358 rs1291947704	610	S>F		No	ClinGen gnomAD
CA7577308 rs551018387	613	P>L		No	ClinGen ExAC TOPMed gnomAD
rs551018387 CA7577309	613	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7577307 rs751680876	615	G>A		No	ClinGen ExAC gnomAD
CA392570332 rs751680876	615	G>V		No	ClinGen ExAC gnomAD
rs1242483737 CA392570335	615	G>W		No	ClinGen TOPMed
rs112041231 CA392570321	617	E>K		No	ClinGen TOPMed
rs112041231 CA270858584	617	E>Q		No	ClinGen TOPMed
rs1224086896 CA392570315	618	E>K		No	ClinGen gnomAD
CA392570275 rs1566917987	623	L>F		No	ClinGen Ensembl
rs371054999 CA7577304	626	T>I		No	ClinGen ESP ExAC gnomAD
CA270858566 rs933056652	629	V>I		No	ClinGen Ensembl
CA392570206 rs1474916534	633	S>A		No	ClinGen TOPMed
CA270858537 rs923136212	635	R>G		No	ClinGen TOPMed
CA392570194 rs1421084604	635	R>T		No	ClinGen TOPMed
CA7577301 rs760516800	637	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs765427939 CA7577302	637	Q>R		No	ClinGen ExAC gnomAD
rs775238194 CA7577300	639	K>E		No	ClinGen ExAC gnomAD
rs200723498 CA7577299	640	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7577298 rs759345224	642	T>A		No	ClinGen ExAC TOPMed gnomAD
CA392570139 COSM1373654 rs1479945025 COSM1373655	643	P>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA392570141 rs1479945025	643	P>L		No	ClinGen TOPMed gnomAD
rs774221893 CA7577277	645	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7577275 rs762410353	646	N>K		No	ClinGen ExAC gnomAD
rs766326491 CA7577276	646	N>S		No	ClinGen ExAC gnomAD
CA270857304 rs199644161	649	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577272 rs572510041	649	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7577273 rs199644161	649	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7577274 rs772808224	649	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1412699959 CA392570088	650	A>T		No	ClinGen TOPMed gnomAD
rs1336679972 CA392570072	652	N>S		No	ClinGen gnomAD
CA392570051 rs1172426678	654	N>K		No	ClinGen TOPMed
CA392570059 rs1470486800	654	N>S		No	ClinGen gnomAD
rs747383393 CA7577269	656	Q>H		No	ClinGen ExAC gnomAD
rs565198460 CA7577270	656	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs780471573 CA7577268	657	L>P		No	ClinGen ExAC gnomAD
CA392570029 rs1423286468	658	Q>E		No	ClinGen TOPMed
rs545405273 CA7577267	658	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1241145326 CA392570023	659	A>S		No	ClinGen gnomAD
rs1416428099 CA392570009	661	R>C		No	ClinGen TOPMed
rs369378356 CA7577265	661	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA392570005 rs369378356	661	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577263 rs753995622	662	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7577261 rs754787878	667	R>Q		No	ClinGen ExAC gnomAD
CA7577262 rs777969350	667	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1251943516 CA392569969	668	Q>*		No	ClinGen gnomAD
CA7577259 rs766257808	670	S>P		No	ClinGen ExAC gnomAD
rs1296206141 CA392569952	670	S>Y		No	ClinGen TOPMed
rs749964316 CA7577257	671	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1385415606 CA392569933	673	T>A		No	ClinGen gnomAD
rs148044096 COSM110170 CA270857198	674	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7577256 rs764771485	675	S>I		No	ClinGen ExAC gnomAD
rs1389287031 CA392569904	677	D>G		No	ClinGen gnomAD
CA7577255 rs761399958	678	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1168159438 CA392569892	679	R>*		No	ClinGen TOPMed gnomAD
CA7577253 rs2303580	679	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2303580 CA7577254	679	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_047909 rs2303580 CA7577252	679	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392569891 rs1382856818	680	E>K		No	ClinGen gnomAD
rs1162787155 CA392569878	681	S>F		No	ClinGen gnomAD
rs1566916247 CA392569883	681	S>P		No	ClinGen Ensembl
CA392569877 rs1595761167	682	S>T		No	ClinGen Ensembl
rs1248533230 CA392569872	682	S>Y		No	ClinGen TOPMed gnomAD
rs1288040142 CA392569867	683	E>D		No	ClinGen gnomAD
rs746318868 CA7577249	683	E>G		No	ClinGen ExAC gnomAD
CA7577250 rs140440361	683	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577225 rs769921631	685	W>R		No	ClinGen ExAC gnomAD
rs1322844540 CA392569836	686	E>G		No	ClinGen TOPMed
CA7577223 rs781265318	686	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7577224 rs781265318	686	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749464387 CA270857049	687	I>L		No	ClinGen TOPMed gnomAD
CA7577222 rs758322702	688	I>T		No	ClinGen ExAC gnomAD
CA392569824 rs1438358653	688	I>V		No	ClinGen TOPMed
rs745633810 CA7577221	689	R>K		No	ClinGen ExAC gnomAD
rs753315030 CA7577218	695	M>I		No	ClinGen ExAC TOPMed gnomAD
CA392569777 rs1595760884	695	M>V		No	ClinGen Ensembl
rs755729257 CA7577216	696	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs763606586 CA7577217	696	Y>C		No	ClinGen ExAC gnomAD
CA270857031 rs775562536	698	N>D		No	ClinGen Ensembl
CA392569752 rs2303579	698	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392569751 rs1193082101	698	N>K		No	ClinGen TOPMed gnomAD
CA7577215 VAR_047910 rs2303579	698	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200514829 CA7577214	699	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392569728 rs1453628347	702	P>S		No	ClinGen TOPMed
rs774667888 CA7577212	705	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7577211 rs766893416	706	P>L		No	ClinGen ExAC TOPMed gnomAD
CA392569695 rs1223767842	707	S>L		No	ClinGen gnomAD
rs773167275 CA392569688	708	S>R		No	ClinGen ExAC gnomAD
rs769982355 CA7577208	709	N>Y		No	ClinGen ExAC gnomAD
rs1327002172 CA392569671	711	D>H		No	ClinGen gnomAD
rs1322488028 CA392569664	712	V>I		No	ClinGen gnomAD
CA7577206 rs776959005	714	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7577205 rs768964537	714	T>I		No	ClinGen ExAC gnomAD
CA7577207 rs776959005	714	T>P		No	ClinGen ExAC TOPMed gnomAD
CA270856998 rs776151175	715	H>L		No	ClinGen Ensembl
rs138400447 CA7577204	716	L>F		No	ClinGen 1000Genomes ExAC
rs757278017 CA7577202	718	E>A		No	ClinGen ExAC gnomAD
rs1388560912 CA392569623	719	E>K		No	ClinGen TOPMed
rs1595760663 CA392569589	723	R>S		No	ClinGen Ensembl
CA392569582 rs1595760653	725	T>P		No	ClinGen Ensembl
CA392569565 rs1326377818	727	F>S		No	ClinGen TOPMed
CA392569558 rs1595760642	728	G>E		No	ClinGen Ensembl
CA7577200 rs777570845	729	N>S		No	ClinGen ExAC gnomAD
CA392569553 rs1250402858	729	N>Y		No	ClinGen gnomAD
rs1595760624 CA392569547	730	S>P		No	ClinGen Ensembl
CA392569534 rs1313632405	732	V>A		No	ClinGen gnomAD
CA392569535 rs550537760	732	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM963134 CA7577197 rs550537760 COSM963132	732	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA392569528 rs1332989903	733	S>N		No	ClinGen TOPMed
COSM963129 COSM963131 CA7577194 rs751934031	736	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392569504 rs1566915777	736	A>V		No	ClinGen Ensembl
CA7577191 rs763221753	737	S>L		No	ClinGen ExAC gnomAD
CA7577189 rs765636644	739	S>L		No	ClinGen ExAC gnomAD
CA392569290 rs1328673048	740	N>S		No	ClinGen TOPMed
rs1595755064 CA392569277	742	S>P		No	ClinGen Ensembl
rs764207192 CA7577169	745	R>K		No	ClinGen ExAC gnomAD
CA7577168 rs760834802	748	L>*		No	ClinGen ExAC gnomAD
rs775916619 CA7577167	748	L>F		No	ClinGen ExAC TOPMed gnomAD
CA392569232 rs772163003	749	Q>E		No	ClinGen ExAC gnomAD
CA7577166 rs772163003	749	Q>K		No	ClinGen ExAC gnomAD
CA7577165 rs762847291	749	Q>R		No	ClinGen ExAC gnomAD
rs1388170358 CA392569216	751	Y>C		No	ClinGen Ensembl
CA270854881 rs976129867	752	T>A		No	ClinGen TOPMed gnomAD
CA392569202 rs1216375052	753	F>L		No	ClinGen TOPMed
CA7577162 rs769794405	753	F>S		No	ClinGen ExAC TOPMed gnomAD
rs747968382 CA7577161	756	Q>K		No	ClinGen ExAC gnomAD
CA270854871 rs571974262	757	P>A		No	ClinGen Ensembl
rs768212499 CA7577159	758	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7577158 rs140868475	759	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140868475 CA7577157	759	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1217009 CA392569152 COSM1217008 rs1404364199	761	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1192656769 CA392569157	761	V>M		No	ClinGen TOPMed
CA392568656 rs1469031900	764	P>L		No	ClinGen gnomAD
rs1186878394 CA392568663	764	P>S		No	ClinGen gnomAD
rs1016896243 CA392568653	765	T>A		No	ClinGen TOPMed gnomAD
CA7577132 rs553753641	765	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1016896243 CA270852741	765	T>P		No	ClinGen TOPMed gnomAD
rs752848604 CA7577131	767	S>C		No	ClinGen ExAC gnomAD
rs1189137707 CA392568601	768	G>V		No	ClinGen gnomAD
CA392568568 rs1241101075	770	P>L		No	ClinGen gnomAD
CA7577130 rs767438924	770	P>S		No	ClinGen ExAC gnomAD
CA7577129 rs755080037	771	P>L		No	ClinGen ExAC gnomAD
CA392568548 rs751785586	772	G>D		No	ClinGen ExAC gnomAD
rs1352051585 CA392568554	772	G>S		No	ClinGen TOPMed
CA7577128 rs751785586	772	G>V		No	ClinGen ExAC gnomAD
CA7577127 rs371397348	777	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA392568458 rs1298912484	777	Q>L		No	ClinGen gnomAD
rs1381034299 CA392568437	778	D>G		No	ClinGen gnomAD
rs776366501 CA7577125	779	E>Q		No	ClinGen ExAC gnomAD
rs150959218 CA7577124	780	R>I		No	ClinGen ESP ExAC gnomAD
rs760545433 CA7577123	781	G>E		No	ClinGen ExAC TOPMed
rs773928074 CA7577119	789	N>Y		No	ClinGen ExAC gnomAD
CA7577118 rs369327462	792	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs778235387 CA7577116	793	T>I		No	ClinGen ExAC gnomAD
CA7577115 rs770438914	794	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1035451619 CA270852638	794	T>I		No	ClinGen gnomAD
rs1457115023 CA392568172	795	W>*		No	ClinGen TOPMed
RCV000891584 CA7577113 rs61754989	799	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7577092 rs747077580	804	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1236391404 CA392567513	806	T>P		No	ClinGen TOPMed gnomAD
CA7577091 rs373466742	807	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA392567497 rs1442552972	807	S>N		No	ClinGen TOPMed
CA392567489 rs1288611233	808	Q>E		No	ClinGen gnomAD
CA392567484 rs1311732711	808	Q>R		No	ClinGen TOPMed
CA270851534 rs1001073482	812	S>I		No	ClinGen TOPMed gnomAD
rs1343101648 CA392567430	813	Q>H		No	ClinGen gnomAD
rs377295315 CA7577089	816	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405951902 CA392567389	817	G>D		No	ClinGen gnomAD
rs1339329642 CA392567378	818	P>L		No	ClinGen TOPMed
CA7577088 rs779098016	818	P>S		No	ClinGen ExAC gnomAD
CA270851518 rs750707428	819	Q>*		No	ClinGen TOPMed gnomAD
rs1456529876 CA392567356	820	S>L		No	ClinGen TOPMed gnomAD
CA7577086 rs199894826	821	Q>L		No	ClinGen ExAC TOPMed gnomAD
COSM1217010 CA7577085 rs767389819 COSM1217011	822	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392567331 rs1268338518	823	S>A		No	ClinGen gnomAD
rs759469427 CA7577084	823	S>F		No	ClinGen ExAC gnomAD
CA270851495 rs901834056	824	T>S		No	ClinGen gnomAD
rs1260057184 CA392567302	825	S>R		No	ClinGen gnomAD
rs751045333 CA7577083	830	Q>H		No	ClinGen ExAC gnomAD
rs375420746 CA7577082	831	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1486663434 CA392567224	832	T>N		No	ClinGen TOPMed
CA7577079 rs769539190	833	Q>R		No	ClinGen ExAC gnomAD
rs1188779483 CA392567200	834	P>Q		No	ClinGen TOPMed
rs1237948483 CA392567190	835	S>C		No	ClinGen TOPMed
CA7577078 rs370009623	837	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA270851465 rs940766577	839	Q>E		No	ClinGen TOPMed
CA7577077 rs777002049	840	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7577076 rs769052109	845	G>V		No	ClinGen ExAC gnomAD
rs368172324 CA7577073	849	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM245990 CA7577074 rs775968460 COSM245991	849	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392567018 rs1312990402	850	H>R		No	ClinGen TOPMed
CA270851406 rs767189924	850	H>Y		No	ClinGen Ensembl
CA7577070 rs757464727	854	G>R		No	ClinGen ExAC gnomAD
CA7577069 rs747918878	856	P>H		No	ClinGen ExAC gnomAD
rs780983420 CA7577068	857	F>L		No	ClinGen ExAC gnomAD
CA392566904 rs1193106376	860	D>E		No	ClinGen gnomAD
rs1465583908 CA392566889	861	H>Q		No	ClinGen gnomAD
CA392566876 rs751583068	862	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7577067 rs754877786	862	N>S		No	ClinGen ExAC gnomAD
CA7577065 rs766395218	864	K>E		No	ClinGen ExAC gnomAD
CA7577064 rs758020217	864	K>R		No	ClinGen ExAC gnomAD
rs1346517057 CA392566826	867	T>N		No	ClinGen gnomAD
rs1323208985 CA392566813	868	W>*		No	ClinGen gnomAD
rs1224790526 CA392566815	868	W>S		No	ClinGen gnomAD
CA7577045 rs780170872	871	P>L		No	ClinGen ExAC gnomAD
rs1192983754 CA392566687	872	R>T		No	ClinGen TOPMed
rs758361528 CA7577044	876	P>L		No	ClinGen ExAC gnomAD
rs145647343 CA392566629	877	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs145647343 CA392566630	877	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145647343 CA7577043	877	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7577042 rs764734101	878	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA270850298 rs756714809	879	L>P		No	ClinGen ExAC gnomAD
CA7577041 rs756714809	879	L>R		No	ClinGen ExAC gnomAD
rs753582483 CA7577040	885	L>R		No	ClinGen ExAC gnomAD
rs997125933 CA270850266	886	D>H		No	ClinGen TOPMed gnomAD
rs997125933 CA392566537	886	D>N		No	ClinGen TOPMed gnomAD
rs763634833 CA7577039	887	T>I		No	ClinGen ExAC gnomAD
CA7577038 rs761144804	888	S>Y		No	ClinGen ExAC gnomAD
CA270850233 rs774863320	889	N>I		No	ClinGen ExAC TOPMed gnomAD
rs774863320 CA7577036	889	N>S		No	ClinGen ExAC TOPMed gnomAD
rs774863320 CA7577037	889	N>T		No	ClinGen ExAC TOPMed gnomAD
rs374400257 CA7577034	891	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7577033 rs374400257	891	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs188530726 CA7577035	891	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408700135 CA392566472	892	G>E		No	ClinGen TOPMed
CA392566476 rs1566907965	892	G>R		No	ClinGen Ensembl
CA392566438 rs1180768711	895	P>S		No	ClinGen gnomAD
rs772047463 CA7577006	896	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA7577007 rs776985290	896	P>S		No	ClinGen ExAC gnomAD
CA7577005 rs745633827	897	G>R		No	ClinGen ExAC gnomAD
CA392566376 rs1342885973	897	G>V		No	ClinGen TOPMed
rs866541364 CA270849924	899	E>K		No	ClinGen Ensembl
rs1218741889 CA392566307	903	H>Y		No	ClinGen TOPMed
rs201682687 CA7577004	905	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377433653 CA7577003	906	G>E		No	ClinGen ESP ExAC gnomAD
CA392566265 rs1173281061	907	R>G		No	ClinGen gnomAD
CA392566217 rs1425699437	911	I>V		No	ClinGen gnomAD
rs1192861101 CA392566190	913	H>Y		No	ClinGen gnomAD
rs1483612654 CA392566144	914	N>T		No	ClinGen gnomAD
CA7576986 rs375088434	915	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375088434 CA7576985	915	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA392566135 rs1257904544	915	I>V		No	ClinGen TOPMed gnomAD
CA270849753 rs781592465	917	R>G		No	ClinGen Ensembl
CA392566066 rs1472786707	920	W>C		No	ClinGen TOPMed gnomAD
rs1342011622 CA392566051	922	D>H		No	ClinGen gnomAD
rs1230984293 CA392566026	924	R>Q		No	ClinGen TOPMed gnomAD
CA7576984 rs371686094	924	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA270849723 rs934683283	926	E>K		No	ClinGen Ensembl
CA270849698 rs924632015	927	N>K		No	ClinGen Ensembl
CA7576983 rs563438216	928	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7576980 rs747636872	930	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7576981 rs769353336	930	I>T		No	ClinGen ExAC gnomAD
rs1434433778 CA392565951	931	T>S		No	ClinGen gnomAD
rs1304123684 CA392565945	932	G>R		No	ClinGen TOPMed gnomAD
CA392565930 rs1200708816	933	P>L		No	ClinGen TOPMed
rs754574732 CA7576978	933	P>S		No	ClinGen ExAC gnomAD
CA7576959 rs569672028	935	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140223805 CA7576960	935	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758737877 CA7576958	936	P>L		No	ClinGen ExAC gnomAD
CA7576956 rs147450625	937	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7576957 rs746211690	937	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs753982347 CA7576954	938	S>P		No	ClinGen ExAC TOPMed gnomAD
CA392565378 rs1236003794	940	D>N		No	ClinGen gnomAD
CA392565292 rs1396484108	945	Y>C		No	ClinGen gnomAD
CA7576951 rs752924716	945	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs948239154 CA270848801	949	R>*		No	ClinGen TOPMed
CA392565232 rs948239154	949	R>G		No	ClinGen TOPMed
CA7576950 rs201295772	949	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7576949 rs762700060	952	L>F		No	ClinGen ExAC gnomAD
rs895442139 CA392565192	952	L>V		No	ClinGen TOPMed gnomAD
CA7576923 rs149994307	956	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392564225 rs1365682703	958	I>F		No	ClinGen gnomAD
rs775013997 CA7576922	958	I>T		No	ClinGen ExAC TOPMed gnomAD
CA392564217 rs1282521751	959	P>T		No	ClinGen gnomAD
rs771639455 CA7576921	960	N>D		No	ClinGen ExAC gnomAD
rs759199057 CA7576920	960	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7576919 rs774143569	961	K>E		No	ClinGen ExAC gnomAD
rs771481184 CA7576918	962	F>L		No	ClinGen ExAC TOPMed gnomAD
CA392564180 rs1443784142	962	F>Y		No	ClinGen TOPMed
rs530017275 CA7576917	965	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1430790306 CA392564136	965	K>N		No	ClinGen gnomAD
CA7576916 rs778187191	966	L>V		No	ClinGen ExAC gnomAD
CA7576915 rs537214071	967	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139245513 CA7576913	967	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139245513 CA7576914	967	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7576912 rs143020253	968	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7576911 rs751833836	968	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780226262 CA7576910	969	A>E		No	ClinGen ExAC gnomAD
rs753589023 CA7576908	970	T>A		No	ClinGen ExAC gnomAD
CA392564097 rs1595735000	970	T>N		No	ClinGen Ensembl
CA7576909 rs753589023	970	T>P		No	ClinGen ExAC gnomAD
rs1595734983 CA392564094	971	V>I		No	ClinGen Ensembl
rs138764182 CA7576907	972	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392564062 rs1342604612	974	D>N		No	ClinGen gnomAD
CA7576906 rs150641951	976	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200243140 CA392564015	977	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200243140 CA7576904	977	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752154317 CA7576905	977	R>W		No	ClinGen ExAC TOPMed gnomAD
CA270841711 rs141916786	978	R>T		No	ClinGen ESP TOPMed
rs1348768763 CA392563999	979	I>T		No	ClinGen gnomAD
rs1043150661 CA270841710	979	I>V		No	ClinGen gnomAD
CA7576902 rs774200630 COSM374186 COSM374187	980	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA270841676 rs756293781	980	M>T		No	ClinGen gnomAD
CA7576903 rs759103902	980	M>V		No	ClinGen ExAC gnomAD
CA392563959 rs766102020	981	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7576901 rs766102020	981	G>V		No	ClinGen ExAC TOPMed gnomAD
CA392563905 rs1365670544	984	R>K		No	ClinGen TOPMed
CA270841634 rs34478706	985	A>E		No	ClinGen Ensembl
CA7576900 rs750483763	985	A>T		No	ClinGen ExAC TOPMed gnomAD
rs34478706 CA270841633	985	A>V		No	ClinGen Ensembl
rs1412534804 CA392563875	986	D>V		No	ClinGen gnomAD
rs1277911652 CA392563854	988	L>V		No	ClinGen TOPMed
rs1475896632 CA392563826	990	A>S		No	ClinGen gnomAD
rs1475896632 CA392563822	990	A>T		No	ClinGen gnomAD
CA7576899 rs773579050	991	R>*		No	ClinGen ExAC TOPMed gnomAD
rs770204656 CA7576898	991	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748752737 CA7576897	997	D>G		No	ClinGen ExAC gnomAD
rs912806091 CA270841598	1000	K>N		No	ClinGen Ensembl
CA7576896 rs776986816	1004	Y>C		No	ClinGen ExAC gnomAD
rs1235441052 CA392563623	1007	V>D		No	ClinGen gnomAD
rs1290842633 CA392563628	1007	V>I		No	ClinGen gnomAD
CA7576895 rs768768800	1008	A>G		No	ClinGen ExAC TOPMed gnomAD
CA392563551 rs1287863637	1013	F>S		No	ClinGen gnomAD
CA7576894 rs747060102	1015	I>M		No	ClinGen ExAC gnomAD
CA7576893 rs780284935	1017	K>E		No	ClinGen ExAC gnomAD
CA392563439 rs1292292518	1020	F>S		No	ClinGen TOPMed gnomAD
rs758565837 CA7576892	1021	N>K		No	ClinGen ExAC gnomAD
CA7576891 rs749048064	1022	P>S		No	ClinGen ExAC gnomAD
CA392563337 rs777559208	1025	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7576890 rs777559208	1025	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752739252 CA7576888	1027	F>L		No	ClinGen ExAC gnomAD
CA7576887 rs201589405	1028	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs754579935 CA7576886	1030	S>Y		No	ClinGen ExAC gnomAD
rs766155164 CA7576884	1032	T>M		No	ClinGen ExAC TOPMed gnomAD
rs759512639 CA7576854	1034	N>H		No	ClinGen ExAC gnomAD
CA270840489 rs959686775	1034	N>S		No	ClinGen Ensembl
rs1364943430 CA392562867	1041	P>S		No	ClinGen gnomAD
CA7576853 rs774674685	1042	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1382473403 CA392562823	1043	S>C		No	ClinGen gnomAD
CA270840466 rs868601455	1044	G>R		No	ClinGen Ensembl
rs145328125 CA7576851	1045	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7576849 rs768721578	1046	C>Y		No	ClinGen ExAC gnomAD
COSM963122 rs780115488 CA7576847 COSM963120	1048	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1408848837 CA392562740	1049	D>N		No	ClinGen gnomAD
CA270840435 rs1009992634	1051	L>F		No	ClinGen gnomAD
rs1171362318 CA392562692	1053	Y>H		No	ClinGen gnomAD
CA392562676 rs1204715857	1054	F>L		No	ClinGen TOPMed
rs375831020 CA7576845	1056	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA392562618 rs1054330779	1058	G>C		No	ClinGen TOPMed
rs1054330779 CA270840424	1058	G>S		No	ClinGen TOPMed
rs1260157654 CA392562602	1059	R>Q		No	ClinGen gnomAD
rs778649489 CA7576844	1059	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1252305214 CA392562584	1060	V>A		No	ClinGen gnomAD
CA392562590 rs1341895370	1060	V>I		No	ClinGen gnomAD
CA270840412 rs372376809	1062	G>E		No	ClinGen ESP
rs1473345762 CA392562510	1064	A>V		No	ClinGen TOPMed gnomAD
CA392562475 rs1308851183	1066	Y>*		No	ClinGen gnomAD
CA270840404 rs78650601	1066	Y>F		No	ClinGen Ensembl
CA7576842 rs754204571	1068	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7576840 rs761017280	1071	L>W		No	ClinGen ExAC gnomAD
CA392562279 rs1334884402	1075	F>S		No	ClinGen gnomAD
CA392562264 rs1294651064	1076	I>V		No	ClinGen gnomAD
rs756785614 CA7576825	1080	Y>N		No	ClinGen ExAC gnomAD
CA7576824 rs749000205	1081	K>R		No	ClinGen ExAC gnomAD
CA7576823 rs777384727	1083	M>I		No	ClinGen ExAC gnomAD
CA270840204 rs918592256	1083	M>T		No	ClinGen Ensembl
rs756511532 CA7576822	1085	H>Y		No	ClinGen ExAC gnomAD
rs753021735 CA7576821	1086	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1315366948 CA392562102	1088	I>T		No	ClinGen TOPMed
CA7576820 rs768095018	1088	I>V		No	ClinGen ExAC TOPMed gnomAD
CA392562092 rs1436132648	1089	T>N		No	ClinGen gnomAD
CA392562067 rs1295831954	1091	H>Q		No	ClinGen TOPMed
CA392562071 rs1472308001	1091	H>R		No	ClinGen TOPMed gnomAD
rs755386033 CA7576819	1091	H>Y		No	ClinGen ExAC gnomAD
rs370532851 CA270840164	1092	D>E		No	ClinGen TOPMed gnomAD
rs751666722 CA7576818	1095	S>Y		No	ClinGen ExAC gnomAD
COSM1323936 rs767083781 COSM1323937 CA270838975	1097	D>G	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA392561138 rs1344225976	1098	S>T		No	ClinGen TOPMed
CA7576803 rs755718014	1102	N>S		No	ClinGen ExAC TOPMed gnomAD
rs145482517 CA7576802	1106	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs145482517 CA392561030	1106	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392561014 rs1566899855	1107	I>V		No	ClinGen Ensembl
CA7576801 rs781347537	1109	E>K		No	ClinGen ExAC gnomAD
CA270838919 rs562243154	1110	N>S		No	ClinGen Ensembl
CA7576800 rs755368523	1111	D>N		No	ClinGen ExAC gnomAD
rs766876077 CA7576799	1112	P>A		No	ClinGen ExAC gnomAD
rs766876077 CA7576798	1112	P>T		No	ClinGen ExAC gnomAD
CA392560865 rs1325139198	1118	R>S		No	ClinGen TOPMed gnomAD
CA7576797 rs758577603	1120	I>N		No	ClinGen ExAC gnomAD
rs750477308 CA7576796	1121	I>T		No	ClinGen ExAC gnomAD
CA270838891 rs113680384	1123	E>G		No	ClinGen Ensembl
CA270838838 rs866316299	1128	Q>L		No	ClinGen Ensembl
CA392560696 rs1203477313	1129	T>R		No	ClinGen gnomAD
rs754058098 CA7576772	1130	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7576773 rs757398278	1130	H>Y		No	ClinGen ExAC gnomAD
rs759283591 CA7576770	1132	H>D		No	ClinGen ExAC gnomAD
rs542172834 CA7576769	1132	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs766320630 CA270838416	1137	G>C		No	ClinGen ExAC TOPMed gnomAD
CA392560644 rs1349095984	1137	G>D		No	ClinGen gnomAD
CA7576768 rs766320630	1137	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1279499435 CA392560627	1140	E>K		No	ClinGen gnomAD
CA7576767 rs762813565	1141	I>V		No	ClinGen ExAC gnomAD
CA7576766 rs773133450	1147	N>K		No	ClinGen ExAC TOPMed gnomAD
CA392560575 rs773133450	1147	N>K		No	ClinGen ExAC TOPMed gnomAD
rs769355533 CA7576765	1148	K>R		No	ClinGen ExAC TOPMed gnomAD
CA392560559 rs1459590290	1150	E>K		No	ClinGen TOPMed gnomAD
rs761351364 CA7576764	1151	Y>H		No	ClinGen ExAC gnomAD
CA7576744 rs761247525	1154	L>R		No	ClinGen ExAC gnomAD
CA7576742 rs763655302	1156	I>T		No	ClinGen ExAC TOPMed gnomAD
rs775266689 CA7576740	1159	R>*		No	ClinGen ExAC TOPMed gnomAD
rs772614059 CA7576739	1159	R>Q		No	ClinGen ExAC gnomAD
COSM3386958 COSM3386957 rs746203139 CA7576738	1161	V>A	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7576737 rs775029344	1162	N>K		No	ClinGen ExAC gnomAD
rs138767007 CA7576736	1163	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7576735 rs138767007	1163	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs777845396 CA392560459	1163	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777845396 CA7576734	1163	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA392560430 rs1595728070	1167	Q>R		No	ClinGen Ensembl
CA392560423 rs1484914199	1168	M>T		No	ClinGen gnomAD
rs1595728053 CA392560418	1169	A>P		No	ClinGen Ensembl
rs748464479 CA7576732	1172	K>E		No	ClinGen ExAC gnomAD
rs202024771 CA7576716	1175	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA392560297 rs541009048	1178	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475795105 CA392560288	1179	I>T		No	ClinGen gnomAD
rs748199134 CA7576713	1180	P>R		No	ClinGen ExAC gnomAD
rs781412371 CA7576712	1181	Q>*		No	ClinGen ExAC gnomAD
CA7576710 rs745665000	1182	D>A		No	ClinGen ExAC gnomAD
rs778744413 CA7576709	1182	D>E		No	ClinGen ExAC gnomAD
rs1250407716 CA392560271	1182	D>Y		No	ClinGen gnomAD
RCV000951322 CA7576707 rs140499972	1185	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1355933359 CA392560247	1186	I>L		No	ClinGen gnomAD
CA270835284 rs938212106	1189	E>*		No	ClinGen Ensembl
rs752206844 CA7576704	1190	N>S		No	ClinGen ExAC gnomAD
CA7576703 rs201091245	1191	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766827149 CA7576700	1193	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1346485111 CA392560171	1195	L>F		No	ClinGen gnomAD
CA7576686 rs777789935	1196	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7576687 rs200055696	1196	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs370100375 CA7576685	1203	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330962937 CA392560113	1204	V>L		No	ClinGen TOPMed
CA270835112 rs775488130	1210	H>Q		No	ClinGen ExAC gnomAD
CA7576682 rs567214215	1211	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs751309311 CA7576681	1212	K>Q		No	ClinGen ExAC gnomAD
rs763410519 CA7576679	1215	N>H		No	ClinGen ExAC TOPMed gnomAD
rs765283014 CA270835091	1216	G>C		No	ClinGen Ensembl
rs531064297 CA392560015	1217	Y>*		No	ClinGen Ensembl
CA392560017 rs1452979539 COSM1517404 COSM1517405	1217	Y>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA392560021 rs1161649610	1217	Y>N		No	ClinGen gnomAD
CA392560009 rs1250737453	1218	S>N		No	ClinGen TOPMed gnomAD
rs765774868 CA7576677	1220	N>H		No	ClinGen ExAC TOPMed gnomAD
CA392559987 rs1468515596	1221	H>L		No	ClinGen TOPMed gnomAD
rs762371324 CA7576676	1222	Q>P		No	ClinGen ExAC gnomAD
CA392559972 rs1595722328	1223	V>G		No	ClinGen Ensembl
CA270835068 rs953960767	1225	Q>R		No	ClinGen gnomAD
rs1432583621 CA392559956	1226	W>R		No	ClinGen TOPMed
rs1196664732 CA392559936	1228	W>*		No	ClinGen TOPMed
rs1126740 CA270835032	1228	W>*		No	ClinGen Ensembl
CA270835039 rs1029639710	1228	W>G		No	ClinGen Ensembl
rs1347307640 CA392559904	1231	V>A		No	ClinGen gnomAD
rs1347307640 CA392559903	1231	V>G		No	ClinGen gnomAD
CA392559907 rs185535833	1231	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA270834603 rs185535833	1231	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs757594249 CA7576657	1233	M>T		No	ClinGen ExAC gnomAD
CA270834602 rs935680441	1233	M>V		No	ClinGen TOPMed gnomAD
CA7576656 rs754382041	1234	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1300550081 CA392559874	1235	D>V		No	ClinGen gnomAD
rs1413526899 CA392559870	1236	S>A		No	ClinGen gnomAD
CA7576655 rs764544014	1238	K>T		No	ClinGen ExAC TOPMed gnomAD
CA7576654 rs760766144	1239	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1363575836 CA392559828	1242	L>V		No	ClinGen TOPMed
CA392559787 rs1165853541	1247	T>I		No	ClinGen gnomAD
rs1195237828 CA392559777	1249	T>K		No	ClinGen gnomAD
rs1490390519 CA392559767	1251	R>W		No	ClinGen Ensembl
CA7576647 rs144916239	1253	P>L		No	ClinGen ESP ExAC gnomAD
CA7576646 rs768670122	1254	M>V		No	ClinGen ExAC TOPMed gnomAD
rs779494037 CA7576644	1258	A>D		No	ClinGen ExAC gnomAD
rs746528761 CA7576645	1258	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7576643 rs757908792	1261	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA7576641 rs778503652	1262	G>S		No	ClinGen ExAC TOPMed gnomAD
CA392559646 rs1165367969	1264	N>K		No	ClinGen gnomAD
CA7576620 rs149901812	1264	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756489868 CA7576619	1265	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7576618 rs566483106	1268	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA270833121 rs566483106	1268	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA392559610 rs1206740118	1270	T>K		No	ClinGen gnomAD
CA392559572 rs1157715706	1275	G>D		No	ClinGen TOPMed gnomAD
CA7576617 rs781704268	1276	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7576615 rs751645124	1277	P>T		No	ClinGen ExAC gnomAD
rs766725546 CA7576614	1281	P>A		No	ClinGen ExAC gnomAD
CA392559534 rs1247419368	1282	R>G		No	ClinGen TOPMed gnomAD
rs763329852 CA7576613	1284	H>L		No	ClinGen ExAC gnomAD
rs1438995216 CA392559491	1286	C>*		No	ClinGen TOPMed
CA270833049 rs754172339	1286	C>F		No	ClinGen TOPMed gnomAD
CA392559505 rs754172339	1286	C>Y		No	ClinGen TOPMed gnomAD
CA392559477 rs1156686837	1288	N>S		No	ClinGen TOPMed
COSM224486 COSM224485 rs1296691740 CA392559473	1289	R>C	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs373654655 CA270832592 COSM191598	1289	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1322420767 CA392559450	1292	L>F		No	ClinGen TOPMed
rs201551324 CA270832586	1292	L>M		No	ClinGen Ensembl
CA392559438 rs1347616664	1294	P>L		No	ClinGen TOPMed
CA392559443 rs1362405793	1294	P>S		No	ClinGen gnomAD
rs375840599 CA7576591	1295	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7576590 rs767360937	1295	Y>S		No	ClinGen ExAC gnomAD
rs774259565 CA7576588	1299	E>K		No	ClinGen ExAC gnomAD
rs1418954160 CA392559381	1302	W>C		No	ClinGen gnomAD
CA392559387 rs1426779425	1302	W>R		No	ClinGen TOPMed gnomAD
rs201769294 CA270832567	1306	Q>H		No	ClinGen 1000Genomes
rs770478294 CA7576587	1306	Q>K		No	ClinGen ExAC gnomAD
CA7576586 rs762420380	1307	M>I		No	ClinGen ExAC gnomAD
rs1479065813 CA392559347	1307	M>K		No	ClinGen TOPMed gnomAD
rs1479065813 CA392559346	1307	M>T		No	ClinGen TOPMed gnomAD
rs373718024 CA7576585	1309	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566893094 CA392559326	1310	E>G		No	ClinGen Ensembl
CA392559320 rs1256222202	1311	N>D		No	ClinGen TOPMed gnomAD
CA392559314 rs1287914890	1312	T>P		No	ClinGen TOPMed
CA7576584 rs769441946	1313	Q>R		No	ClinGen ExAC gnomAD
rs1323598453 CA392559284	1316	D>H		No	ClinGen TOPMed

No associated diseases with P46934

5 regional properties for P46934

Type	Name	Position	InterPro Accession
domain	HECT domain	962 - 1318	IPR000569
domain	WW domain	610 - 643	IPR001202-1
domain	WW domain	767 - 800	IPR001202-2
domain	WW domain	840 - 873	IPR001202-3
domain	WW domain	892 - 925	IPR001202-4

Functions

		Description
EC Number	2.3.2.26	Aminoacyltransferases
Subcellular Localization	Cytoplasm Nucleus Cell membrane ; Peripheral membrane protein	Predominantly cytoplasmic but also located in the nucleus (PubMed:11342538) Recruited to the plasma membrane by GRB10 Once complexed with GRB10 and IGF1R, follows IGF1R internalization, remaining associated with early endosomes Uncouples from IGF1R-containing endosomes before the sorting of the receptor to the lysosomal compartment (By similarity) May be recruited to exosomes by NDFIP1 (PubMed:18819914)
PANTHER Family	PTHR11254	HECT DOMAIN UBIQUITIN-PROTEIN LIGASE
PANTHER Subfamily	PTHR11254:SF282	E3 UBIQUITIN-PROTEIN LIGASE NEDD4
PANTHER Protein Class	ubiquitin-protein ligase
PANTHER Pathway Category	Ubiquitin proteasome pathway E3

12 GO annotations of cellular component

Name	Definition
apicolateral plasma membrane	The apical end of the lateral plasma membrane of epithelial cells.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
ubiquitin ligase complex	A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

10 GO annotations of molecular function

Name	Definition
beta-2 adrenergic receptor binding	Binding to a beta-2 adrenergic receptor.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
phosphoserine residue binding	Binding to a phosphorylated serine residue within a protein.
phosphothreonine residue binding	Binding to a phosphorylated threonine residue within a protein.
proline-rich region binding	Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein.
protein domain specific binding	Binding to a specific domain of a protein.
RNA polymerase binding	Binding to an RNA polymerase molecule or complex.
sodium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a sodium channel.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

31 GO annotations of biological process

Name	Definition
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
formation of structure involved in a symbiotic process	The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction.
glucocorticoid receptor signaling pathway	The series of molecular signals initiated by glucocorticoid binding to its receptor.
lysosomal transport	The directed movement of substances into, out of or within a lysosome.
negative regulation of sodium ion transmembrane transporter activity	Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transporter activity.
negative regulation of sodium ion transport	Any process that decreases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a UV damage stimulus.
negative regulation of vascular endothelial growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
neuromuscular junction development	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of nucleocytoplasmic transport	Any process that activates or increases the frequency, rate or extent of the directed movement of substances between the nucleus and the cytoplasm.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
progesterone receptor signaling pathway	The series of molecular signals initiated by progesterone binding to its receptor in the cytoplasm.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein K63-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
protein targeting to lysosome	The process of directing proteins towards the lysosome using signals contained within the protein.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
receptor catabolic process	The chemical reactions and pathways resulting in the breakdown of a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
receptor internalization	A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane.
regulation of dendrite morphogenesis	Any process that modulates the frequency, rate or extent of dendrite morphogenesis.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
regulation of macroautophagy	Any process that modulates the frequency, rate or extent of macroautophagy.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
regulation of potassium ion transmembrane transporter activity	Any process that modulates the frequency, rate or extent of potassium ion transmembrane transporter activity.
regulation of synapse organization	Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell).
response to calcium ion	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation.
viral budding	A viral process by which enveloped viruses acquire a host-derived membrane enriched in viral proteins to form their external envelope. The process starts when nucleocapsids, assembled or in the process of being built, induce formation of a membrane curvature in the host plasma or organelle membrane and wrap up in the forming bud. The process ends when the bud is eventually pinched off by membrane scission to release the enveloped particle into the lumenal or extracellular space.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39940	RSP5	E3 ubiquitin-protein ligase RSP5	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9Y0H4	Su(dx)	E3 ubiquitin-protein ligase Su	Drosophila melanogaster (Fruit fly)	SS
Q9V853	Smurf	E3 ubiquitin-protein ligase Smurf1	Drosophila melanogaster (Fruit fly)	SS
O95817	BAG3	BAG family molecular chaperone regulator 3	Homo sapiens (Human)	PR
O60861	GAS7	Growth arrest-specific protein 7	Homo sapiens (Human)	PR
Q9HCE7	SMURF1	E3 ubiquitin-protein ligase SMURF1	Homo sapiens (Human)	PR
Q9HAU4	SMURF2	E3 ubiquitin-protein ligase SMURF2	Homo sapiens (Human)	EV
Q9H0M0	WWP1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Homo sapiens (Human)	EV
Q96J02	ITCH	E3 ubiquitin-protein ligase Itchy homolog	Homo sapiens (Human)	EV
O00308	WWP2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Homo sapiens (Human)	EV
Q96PU5	NEDD4L	E3 ubiquitin-protein ligase NEDD4-like	Homo sapiens (Human)	PR
Q8IYU2	HACE1	E3 ubiquitin-protein ligase HACE1	Homo sapiens (Human)	EV
Q9CUN6	Smurf1	E3 ubiquitin-protein ligase SMURF1	Mus musculus (Mouse)	PR
A2A5Z6	Smurf2	E3 ubiquitin-protein ligase SMURF2	Mus musculus (Mouse)	SS
Q8BZZ3	Wwp1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Mus musculus (Mouse)	SS
Q60780	Gas7	Growth arrest-specific protein 7	Mus musculus (Mouse)	PR
Q8C863	Itch	E3 ubiquitin-protein ligase Itchy	Mus musculus (Mouse)	EV
Q9DBH0	Wwp2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Mus musculus (Mouse)	SS
Q8CFI0	Nedd4l	E3 ubiquitin-protein ligase NEDD4-like	Mus musculus (Mouse)	PR
P46935	Nedd4	E3 ubiquitin-protein ligase NEDD4	Mus musculus (Mouse)	PR
Q62940	Nedd4	E3 ubiquitin-protein ligase NEDD4	Rattus norvegicus (Rat)	PR
Q9N2Z7	wwp-1	E3 ubiquitin-protein ligase wwp-1	Caenorhabditis elegans	SS
A9JRZ0	smurf2	E3 ubiquitin-protein ligase SMURF2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAQSLRLHFA	ARRSNTYPLS	ETSGDDLDSH	VHMCFKRPTR	ISTSNVVQMK	LTPRQTALAP
70	80	90	100	110	120
LIKENVQSQE	RSSVPSSENV	NKKSSCLQIS	LQPTRYSGYL	QSSNVLADSD	DASFTCILKD
130	140	150	160	170	180
GIYSSAVVDN	ELNAVNDGHL	VSSPAICSGS	LSNFSTSDNG	SYSSNGSDFG	SCASITSGGS
190	200	210	220	230	240
YTNSVISDSS	SYTFPPSDDT	FLGGNLPSDS	TSNRSVPNRN	TTPCEIFSRS	TSTDPFVQDD
250	260	270	280	290	300
LEHGLEIMKL	PVSRNTKIPL	KRYSSLVIFP	RSPSTTRPTS	PTSLCTLLSK	GSYQTSHQFI
310	320	330	340	350	360
ISPSEIAHNE	DGTSAKGFLS	TAVNGLRLSK	TICTPGEVRD	IRPLHRKGSL	QKKIVLSNNT
370	380	390	400	410	420
PRQTVCEKSS	EGYSCVSVHF	TQRKAATLDC	ETTNGDCKPE	MSEIKLNSDS	EYIKLMHRTS
430	440	450	460	470	480
ACLPSSQNVD	CQININGELE	RPHSQMNKNH	GILRRSISLG	GAYPNISCLS	SLKHNCSKGG
490	500	510	520	530	540
PSQLLIKFAS	GNEGKVDNLS	RDSNRDCTNE	LSNSCKTRDD	FLGQVDVPLY	PLPTENPRLE
550	560	570	580	590	600
RPYTFKDFVL	HPRSHKSRVK	GYLRLKMTYL	PKTSGSEDDN	AEQAEELEPG	WVVLDQPDAA
610	620	630	640	650	660
CHLQQQQEPS	PLPPGWEERQ	DILGRTYYVN	HESRRTQWKR	PTPQDNLTDA	ENGNIQLQAQ
670	680	690	700	710	720
RAFTTRRQIS	EETESVDNRE	SSENWEIIRE	DEATMYSNQA	FPSPPPSSNL	DVPTHLAEEL
730	740	750	760	770	780
NARLTIFGNS	AVSQPASSSN	HSSRRGSLQA	YTFEEQPTLP	VLLPTSSGLP	PGWEEKQDER
790	800	810	820	830	840
GRSYYVDHNS	RTTTWTKPTV	QATVETSQLT	SSQSSAGPQS	QASTSDSGQQ	VTQPSEIEQG
850	860	870	880	890	900
FLPKGWEVRH	APNGRPFFID	HNTKTTTWED	PRLKIPAHLR	GKTSLDTSND	LGPLPPGWEE
910	920	930	940	950	960
RTHTDGRIFY	INHNIKRTQW	EDPRLENVAI	TGPAVPYSRD	YKRKYEFFRR	KLKKQNDIPN
970	980	990	1000	1010	1020
KFEMKLRRAT	VLEDSYRRIM	GVKRADFLKA	RLWIEFDGEK	GLDYGGVARE	WFFLISKEMF
1030	1040	1050	1060	1070	1080
NPYYGLFEYS	ATDNYTLQIN	PNSGLCNEDH	LSYFKFIGRV	AGMAVYHGKL	LDGFFIRPFY
1090	1100	1110	1120	1130	1140
KMMLHKPITL	HDMESVDSEY	YNSLRWILEN	DPTELDLRFI	IDEELFGQTH	QHELKNGGSE
1150	1160	1170	1180	1190	1200
IVVTNKNKKE	YIYLVIQWRF	VNRIQKQMAA	FKEGFFELIP	QDLIKIFDEN	ELELLMCGLG
1210	1220	1230	1240	1250	1260
DVDVNDWREH	TKYKNGYSAN	HQVIQWFWKA	VLMMDSEKRI	RLLQFVTGTS	RVPMNGFAEL
1270	1280	1290	1300	1310
YGSNGPQSFT	VEQWGTPEKL	PRAHTCFNRL	DLPPYESFEE	LWDKLQMAIE	NTQGFDGVD