AiPD: Autoinhibited Protein Database

P11171

Gene name	EPB41
Protein name	Protein 4.1
Names	P4.1, 4.1R, Band 4.1, EPB4.1, Erythrocyte membrane protein band 4.1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2035
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-236 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-236 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for P11171

Entry ID	Method	Resolution	Chain	Position	Source
1GG3	X-ray	280 A	A/B/C	210-488	PDB
2RQ1	NMR	-	A	292-396	PDB
3QIJ	X-ray	180 A	A/B	211-488	PDB
AF-P11171-F1	Predicted				AlphaFoldDB

617 variants for P11171

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000018196 rs121434564 CA126837	210	M>R	Elliptocytosis 1 (el1) Elliptocytosis 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA126839 rs121434564 RCV000018198	210	M>T	Elliptocytosis 1 (el1) Elliptocytosis 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001001476 CA724256 RCV002068772 VAR_009122 rs111642750	214	V>I	Elliptocytosis 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000756086 RCV001000001 rs142874233 CA724353 RCV001702555	291	P>S	Elliptocytosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs869025285 RCV000207065	358	N>missing	Hereditary elliptocytosis [ClinVar]	Yes	ClinVar dbSNP
rs201227668 CA724442 RCV001001332 RCV002549160	396	Y>C	Inborn genetic diseases Elliptocytosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001001154 CA339526849 rs1302220038	674	S>N	Elliptocytosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000709877 CA724720 rs199764020	683	A>P	Elliptocytosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA724141 rs775614973	2	T>I		No	ClinGen ExAC TOPMed gnomAD
CA339522374 rs1266252891	3	T>A		No	ClinGen gnomAD
CA339522384 rs1571990233	4	E>K		No	ClinGen Ensembl
rs747044928 CA724142	5	K>N		No	ClinGen ExAC gnomAD
CA724143 rs769782245	6	S>G		No	ClinGen ExAC gnomAD
CA339522418 rs1270441727	6	S>N		No	ClinGen gnomAD
rs553290396 CA724144	6	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs557999037 CA339522432	7	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724145 rs557999037	7	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	12	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724150 rs767272040	12	E>K		No	ClinGen ExAC TOPMed gnomAD
CA724153 rs764697267	18	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs563367649 CA20012563	19	K>E		No	ClinGen gnomAD
CA724154 rs754254259	23	E>D		No	ClinGen ExAC TOPMed gnomAD
CA724155 rs75644629	24	E>K		No	ClinGen ExAC gnomAD
CA339522567 rs1211648633	25	A>T		No	ClinGen TOPMed
CA339522577 rs1271522320	26	I>T		No	ClinGen TOPMed
rs1437710002 CA339522583	27	N>T		No	ClinGen TOPMed
rs779290705 CA724156	28	S>*		No	ClinGen ExAC gnomAD
rs1179622435 CA339522596	29	G>D		No	ClinGen gnomAD
rs758679104 CA339522605	30	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA724157 rs746228764	30	Q>R		No	ClinGen ExAC gnomAD
rs780189990 CA724159	31	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA339522637 rs1311749129	34	Q>R		No	ClinGen Ensembl
CA339522659 rs1557922459	36	E>G		No	ClinGen Ensembl
CA339522667 rs1457369414	37	E>K		No	ClinGen gnomAD
rs768577854 CA724162	38	S>C		No	ClinGen ExAC gnomAD
CA724161 rs768577854	38	S>F		No	ClinGen ExAC gnomAD
rs749229606 CA724163	40	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs146663694 CA339522727	40	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	41	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339522808 rs1250588160	46	D>Y		No	ClinGen gnomAD
rs529527082 CA20012650	49	C>R		No	ClinGen TOPMed gnomAD
CA20012651 rs992560065	52	K>M		No	ClinGen Ensembl
rs1366704991 CA339522918	55	A>V		No	ClinGen gnomAD
rs1163625664 CA339522926	56	S>F		No	ClinGen gnomAD
rs774967538 CA724168	57	N>D		No	ClinGen ExAC gnomAD
rs1370148720 CA339522936	58	G>E		No	ClinGen gnomAD
CA724169 rs144499540	58	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112485703 CA20012686	61	P>R		No	ClinGen gnomAD
rs753358508 CA724171	61	P>S		No	ClinGen ExAC gnomAD
rs1244653785 CA339522959	62	T>A		No	ClinGen gnomAD
CA339522966 rs765720886	63	H>P		No	ClinGen ExAC gnomAD
CA339522968 rs1226612943	63	H>Q		No	ClinGen gnomAD
rs765720886 CA724173	63	H>R		No	ClinGen ExAC gnomAD
CA724172 rs762296033	63	H>Y		No	ClinGen ExAC gnomAD
CA339522992 rs1483171641	67	T>P		No	ClinGen gnomAD
rs1416228132 CA339522996	67	T>S		No	ClinGen Ensembl
CA724174 rs750798558	68	K>E		No	ClinGen ExAC gnomAD
rs1253375211 CA339523017	70	K>R		No	ClinGen gnomAD
CA20012729 rs111957024	71	E>G		No	ClinGen Ensembl
rs758693504 CA724175	71	E>Q		No	ClinGen ExAC gnomAD
rs200653172 CA724177	72	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724176 rs780285029	72	R>W		No	ClinGen ExAC TOPMed gnomAD
CA724178 rs755201001	73	T>I		No	ClinGen ExAC gnomAD
CA724179 rs374334401	74	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA20012784 rs958331290	75	E>*		No	ClinGen TOPMed
rs748251899 CA724180	76	S>G		No	ClinGen ExAC gnomAD
TCGA novel	76	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724182 rs771047706	76	S>R		No	ClinGen ExAC
CA724184 rs368272153	78	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA339523064 rs368272153	78	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	79	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339523066 rs1400100252	79	L>V		No	ClinGen gnomAD
rs942222753 CA20012818	80	S>A		No	ClinGen gnomAD
rs745691212 CA724185	80	S>L		No	ClinGen ExAC gnomAD
rs942222753 CA339523072	80	S>P		No	ClinGen gnomAD
rs372209786 CA724186	81	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs372209786 CA339523075	81	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA724187 rs775337140	81	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1342438360 CA339523081	82	L>P		No	ClinGen gnomAD
rs1557924695 CA339523087	83	F>S		No	ClinGen Ensembl
rs752062682	85	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA724192 rs561329874	85	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA724191 rs776065288	85	S>T		No	ClinGen ExAC gnomAD
rs997944985 CA20012874	87	L>F		No	ClinGen Ensembl
CA724194 rs141680585	88	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763330269 CA724195	92	S>F		No	ClinGen ExAC TOPMed gnomAD
rs766702018 CA724196	93	Q>L		No	ClinGen ExAC gnomAD
CA724197 rs751918017	94	V>M		No	ClinGen ExAC gnomAD
rs781461033 CA339523165	96	E>*		No	ClinGen ExAC TOPMed gnomAD
CA724199 rs781461033	96	E>K		No	ClinGen ExAC TOPMed gnomAD
CA724200 rs752730549	99	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	103	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560164744 CA724201	108	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA339523260 rs1372037096	109	G>S		No	ClinGen TOPMed
CA339523282 rs369294048	112	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA724202 rs779019847	112	G>S		No	ClinGen ExAC gnomAD
CA724203 rs369294048	112	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384249340 CA339523289	113	Q>H		No	ClinGen gnomAD
rs201345838 CA724204	113	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA339523312 rs1433887568	116	I>R		No	ClinGen TOPMed
rs1373483499 CA339523308	116	I>V		No	ClinGen TOPMed
TCGA novel	117	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339523326 rs140065972	118	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140065972 CA724205	118	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs992883620 CA20012979	120	T>I		No	ClinGen Ensembl
CA339523377 rs985496985	125	E>D		No	ClinGen TOPMed gnomAD
rs371403877 CA724206	126	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1341618 rs1327041961 CA339523385	127	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA724208 rs776279425	132	I>V		No	ClinGen ExAC TOPMed gnomAD
CA339523424 rs1486748838	133	A>T		No	ClinGen gnomAD
TCGA novel	135	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200186018 CA724209	137	P>L		No	ClinGen ESP TOPMed
CA339523454 rs200186018	137	P>Q		No	ClinGen ESP TOPMed
CA724212 rs769244959	138	E>K		No	ClinGen ExAC gnomAD
CA724213 rs772686614	139	L>F		No	ClinGen ExAC gnomAD
CA339523472 rs1256912322	140	K>R		No	ClinGen TOPMed
rs745437081 CA20013045	141	T>A		No	ClinGen Ensembl
CA724214 rs369976028	141	T>R		No	ClinGen ESP ExAC gnomAD
rs1431488367 CA339523481	142	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1471909530 CA339523507	143	P>L		No	ClinGen gnomAD
rs1159134627 CA339523520	144	S>F		No	ClinGen gnomAD
CA724215 rs766900734	146	D>G		No	ClinGen ExAC gnomAD
rs1455732889 CA339523558	147	L>P		No	ClinGen gnomAD
rs1292131133 CA339523570	148	H>R		No	ClinGen gnomAD
TCGA novel	149	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724216 rs774634104	149	S>L		No	ClinGen ExAC gnomAD
CA20013068 rs897659215	151	S>N		No	ClinGen TOPMed gnomAD
CA20013075 rs929146973	154	E>K		No	ClinGen TOPMed
rs1464962949 CA339523657	155	T>A		No	ClinGen TOPMed
rs1046166710 CA20013076	156	Q>H		No	ClinGen TOPMed
CA339523675 rs1288985928	156	Q>R		No	ClinGen gnomAD
rs1279044954 CA339524121	161	E>A		No	ClinGen TOPMed
rs775969811 CA724237	163	R>G		No	ClinGen ExAC gnomAD
CA20017385 rs147738349	163	R>K		No	ClinGen ESP gnomAD
rs1443271634 CA339524170	165	D>E		No	ClinGen TOPMed
CA724238 rs573494559	169	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA724241 rs753982388	174	E>G		No	ClinGen ExAC gnomAD
CA724240 rs201231112	174	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724242 rs757297069	177	E>K		No	ClinGen ExAC TOPMed gnomAD
CA724243 rs766257622	178	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1477311995 CA339524338	179	C>R		No	ClinGen TOPMed
CA724244 rs751463925	179	C>Y		No	ClinGen ExAC gnomAD
CA339524363 rs1572089649	180	S>F		No	ClinGen Ensembl
rs754849107 CA724245	180	S>P		No	ClinGen ExAC gnomAD
CA20017486 rs557047271	181	K>N		No	ClinGen 1000Genomes
rs866071277 CA20017499	182	I>V		No	ClinGen gnomAD
CA339524388 rs1367992922	184	V>E		No	ClinGen gnomAD
CA724248 rs747929575	185	K>I		No	ClinGen ExAC TOPMed gnomAD
CA20017519 rs747929575	185	K>R		No	ClinGen ExAC TOPMed gnomAD
CA339524418 rs1227888963	188	S>T		No	ClinGen gnomAD
rs755818196 CA724249	193	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1309381471 CA339524449	193	A>T		No	ClinGen gnomAD
CA339524463 rs1462111996	195	T>A		No	ClinGen gnomAD
CA724250 rs777346153	195	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1448522355 CA339524479	197	L>*		No	ClinGen gnomAD
CA20017536 rs866390552	199	A>S		No	ClinGen Ensembl
CA20017538 rs1032686907	201	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	202	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421163532 CA339524528	204	I>M		No	ClinGen gnomAD
CA339524527 rs1572090504	204	I>S		No	ClinGen Ensembl
TCGA novel	207	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339524545 rs1297054765	207	H>Y		No	ClinGen TOPMed
rs778268635 CA724253	210	M>I		No	ClinGen ExAC gnomAD
rs1557948192 CA339524568 RCV000756088	210	M>V		No	ClinGen ClinVar Ensembl dbSNP
CA339524575 rs1470876044	211	H>Y		No	ClinGen gnomAD
rs746430671 CA724254	212	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA339524596 rs111642750	214	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339524597 RCV000520520 rs111642750	214	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761064131 CA724257	216	L>V		No	ClinGen ExAC gnomAD
CA724258 rs769005503	218	D>N		No	ClinGen ExAC gnomAD
rs776954685 CA724259	220	T>A		No	ClinGen ExAC
CA724260 rs148968117	221	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs148968117 CA339524641	221	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557948590 RCV000760835 CA339524652	222	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs1262516372 CA339524671	225	V>F		No	ClinGen gnomAD
CA724262 rs750437420	227	E>K		No	ClinGen ExAC TOPMed
rs752588508 CA724288	229	H>R		No	ClinGen ExAC gnomAD
rs1253600912 CA339525243	231	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA339525329 rs1160118901	238	R>*		No	ClinGen TOPMed gnomAD
CA20020457 rs1024379477	238	R>Q		No	ClinGen Ensembl
rs763919964 CA339525333	239	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763919964 CA724290	239	V>L		No	ClinGen ExAC TOPMed gnomAD
CA724293 rs373464494	244	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA339525411 rs1306196755	245	L>H		No	ClinGen gnomAD
TCGA novel	245	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557964224 CA339525428	247	E>Q		No	ClinGen Ensembl
rs1557964296 CA339525450	248	E>D		No	ClinGen Ensembl
rs757942511 CA724295	251	F>L		No	ClinGen ExAC
rs780730982 CA724296	252	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	254	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747566443 CA724297	254	A>V		No	ClinGen ExAC gnomAD
rs552908580 CA20020495	255	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552908580 CA724298	255	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1292131846 CA339525577	257	D>N		No	ClinGen gnomAD
CA724300 rs566540981	259	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA724301 rs770064316	260	T>A		No	ClinGen ExAC TOPMed gnomAD
CA724302 rs751877537	260	T>I		No	ClinGen ExAC TOPMed gnomAD
CA339525627 rs770064316	260	T>P		No	ClinGen ExAC TOPMed gnomAD
CA724303 rs749414197	261	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	261	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA20020523 rs773706226	262	K>T		No	ClinGen Ensembl
rs756390517 CA724319	264	W>L		No	ClinGen ExAC gnomAD
CA724320 rs778075450	267	S>A		No	ClinGen ExAC gnomAD
CA724321 rs749554752	268	A>T		No	ClinGen ExAC TOPMed gnomAD
CA20028665 rs948568901	268	A>V		No	ClinGen Ensembl
TCGA novel	270	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244699038 CA339526752	271	I>V		No	ClinGen gnomAD
rs200635934 CA724325	275	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs745890106 CA724324	275	V>I		No	ClinGen ExAC gnomAD
rs144897337 CA724326	276	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000756087 CA724327 rs141150801	276	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA724343 rs745982851	277	G>A		No	ClinGen ExAC gnomAD
CA339526836 rs745982851	277	G>D		No	ClinGen ExAC gnomAD
CA339526847 rs1572494662	278	V>A		No	ClinGen Ensembl
rs137895267 CA724344	278	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA724345 rs780163558	279	P>T		No	ClinGen ExAC gnomAD
rs189183599 CA724346	283	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769763668 CA724347	285	N>I		No	ClinGen ExAC gnomAD
CA724348 rs773195319	285	N>K		No	ClinGen ExAC gnomAD
rs770712506 CA724350	286	V>G		No	ClinGen ExAC TOPMed gnomAD
CA724349 rs762774480	286	V>I		No	ClinGen ExAC gnomAD
rs774106664 CA724351	289	Y>H		No	ClinGen ExAC gnomAD
rs1051352050 CA20030461 COSM459341	290	P>A	cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs752248955 CA724354	293	P>R		No	ClinGen ExAC gnomAD
CA339527072 rs531853845	295	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724355 rs531853845	295	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764604472 CA724356	296	L>F		No	ClinGen ExAC TOPMed gnomAD
CA339527099 rs1200214065	297	T>A		No	ClinGen gnomAD
rs371977238 CA724357	299	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA20030481 rs371977238	299	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA339527151 rs1470445922	300	I>M		No	ClinGen gnomAD
rs1158872648 CA339527169	302	R>K		No	ClinGen gnomAD
CA339527543 rs1275817455	306	C>R		No	ClinGen TOPMed
rs1164958219 CA339527554	307	L>F		No	ClinGen gnomAD
TCGA novel	308	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350454637 CA339527568	308	Q>R		No	ClinGen TOPMed
rs577850620 CA724379	310	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA724378 rs754298443	310	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374995778 CA724380	311	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558038142 CA339527599	311	Q>H		No	ClinGen Ensembl
CA724381 rs750784399	312	D>G		No	ClinGen ExAC gnomAD
CA724382 rs758603245	313	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1572541260 CA339527631	314	V>A		No	ClinGen Ensembl
rs1382345019 CA339527648	316	G>A		No	ClinGen TOPMed gnomAD
CA20031725 rs1045898158	317	R>C		No	ClinGen TOPMed gnomAD
rs930855572 CA20031730	317	R>H		No	ClinGen TOPMed gnomAD
rs201581355 CA724384	322	F>S		No	ClinGen ExAC TOPMed
rs777874461 CA724386	329	G>C		No	ClinGen ExAC gnomAD
rs199529393 CA20031741	330	S>T		No	ClinGen Ensembl
rs749285989 CA724387	331	Y>*		No	ClinGen ExAC gnomAD
CA339527792 rs1182166272	331	Y>H		No	ClinGen gnomAD
rs1003754570 CA20031764	332	T>A		No	ClinGen Ensembl
CA339527806 rs1445596955	332	T>I		No	ClinGen gnomAD
rs191605374 CA20031774	333	I>M		No	ClinGen 1000Genomes
rs757227176 CA724388	334	Q>R		No	ClinGen ExAC gnomAD
rs368085650 CA20031786	337	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558038953 CA339527865	338	G>E		No	ClinGen Ensembl
rs371981251 CA724393	338	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468128146 CA339527887	340	Y>C		No	ClinGen gnomAD
rs768208143 CA724394	342	P>S		No	ClinGen ExAC gnomAD
CA724395 rs776091034	345	H>R		No	ClinGen ExAC TOPMed gnomAD
CA724397 rs182542991	347	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1480956966 CA339528006	351	S>N		No	ClinGen TOPMed gnomAD
CA339528061 rs1201908987	356	A>P		No	ClinGen gnomAD
CA724398 rs202197419	357	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA724399 COSM426041 rs202197419	357	P>R	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1472336034 CA339528079	358	N>H		No	ClinGen gnomAD
rs751756531 CA724401	358	N>S		No	ClinGen ExAC gnomAD
CA339528130 rs1240018529	363	L>F		No	ClinGen TOPMed gnomAD
CA339528128 rs1240018529	363	L>V		No	ClinGen TOPMed gnomAD
rs143958458 CA724403	365	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA724405 rs200261627	368	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1558039733 CA339528196	368	M>T		No	ClinGen Ensembl
CA724406 rs778928272	371	H>R		No	ClinGen ExAC gnomAD
rs1054714853 CA20031921	373	S>T		No	ClinGen Ensembl
rs1572543871 CA339528262	374	Y>F		No	ClinGen Ensembl
rs1470866334 CA339528267	375	R>G		No	ClinGen gnomAD
rs769241133 CA724432	376	S>F		No	ClinGen ExAC gnomAD
CA724434 rs749840637	381	Q>H		No	ClinGen ExAC gnomAD
rs933837968 CA20038633	382	A>V		No	ClinGen TOPMed gnomAD
rs544599235 CA724436	383	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1558079958 CA339529425	385	E>Q		No	ClinGen Ensembl
CA724438 rs772457091	386	F>C		No	ClinGen ExAC gnomAD
CA724440 rs775806350	389	N>S		No	ClinGen ExAC gnomAD
CA20038683 rs763592031	390	A>S		No	ClinGen Ensembl
rs1422935489 CA339529524	393	L>F		No	ClinGen TOPMed gnomAD
CA339529538 rs1265344206	395	M>K		No	ClinGen gnomAD
CA724441 rs148784877	395	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558080333 CA339529575	398	V>G		No	ClinGen Ensembl
CA20038687 rs907539956	399	D>E		No	ClinGen Ensembl
CA724444 rs763007073	401	H>Y		No	ClinGen ExAC gnomAD
CA724463 rs776789017	408	G>A		No	ClinGen ExAC gnomAD
CA724462 rs371379818 RCV000756089	408	G>R		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA724464 rs181358360	409	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724465 rs150835844	410	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA724466 rs774220882	411	I>T		No	ClinGen ExAC gnomAD
rs759443710 CA339522007	412	I>M		No	ClinGen ExAC gnomAD
rs745409760 CA20001513	412	I>N		No	ClinGen Ensembl
rs767339169 CA339522009	413	L>V		No	ClinGen ExAC TOPMed gnomAD
rs752484360 CA724470	414	G>R		No	ClinGen ExAC TOPMed gnomAD
rs752484360 CA724469	414	G>S		No	ClinGen ExAC TOPMed gnomAD
rs763594018 CA724471	416	C>F		No	ClinGen ExAC gnomAD
TCGA novel	416	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339522024 rs1372526025	416	C>S		No	ClinGen gnomAD
rs753421833 CA724472	420	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1244190144 CA339522075	424	K>Q		No	ClinGen TOPMed
rs756675893 CA724473	425	D>G		No	ClinGen ExAC gnomAD
rs563336446 CA724474	426	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1337732103 CA339522096	426	K>N		No	ClinGen gnomAD
rs746417923 CA724475	431	R>C		No	ClinGen ExAC gnomAD
rs758973086 CA724476	431	R>H		No	ClinGen ExAC TOPMed gnomAD
CA724477 rs758973086	431	R>P		No	ClinGen ExAC TOPMed gnomAD
CA339522138 rs1230535910	433	P>S		No	ClinGen TOPMed
rs776673740 CA724480	434	W>R		No	ClinGen ExAC TOPMed gnomAD
CA724481 rs748280138	439	K>N		No	ClinGen ExAC TOPMed gnomAD
rs769809335 CA724482	440	I>F		No	ClinGen ExAC gnomAD
rs769809335 CA20001565	440	I>V		No	ClinGen ExAC gnomAD
rs529053932 CA20001574	443	K>E		No	ClinGen 1000Genomes
rs773241645 CA724483	444	R>C		No	ClinGen ExAC gnomAD
CA724484 rs374316682	444	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74931541 CA724485	445	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	446	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760348644 CA724487	448	F>S		No	ClinGen ExAC
CA724486 rs775275607	448	F>V		No	ClinGen ExAC gnomAD
rs763832384 CA724488	450	K>*		No	ClinGen ExAC gnomAD
rs1267390062 CA339522255	450	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	450	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724490 rs146566071	452	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199751917 CA724489	452	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA339522272 rs1418786015	454	G>R		No	ClinGen TOPMed
CA339522282 rs1452035407	455	E>G		No	ClinGen gnomAD
rs776481551 CA724507	456	Q>R		No	ClinGen ExAC gnomAD
CA724508 rs761433669	457	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761433669 CA724509	457	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749960179 CA724510	459	Y>C		No	ClinGen ExAC gnomAD
rs932565060 CA20003190	462	T>I		No	ClinGen Ensembl
CA339522366 rs1307395143	463	I>M		No	ClinGen TOPMed gnomAD
rs1377959608 CA339522368	464	G>R		No	ClinGen TOPMed gnomAD
rs767012665 CA724512	465	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	467	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs981043937 CA20003194 COSM3804890	471	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1358895284 CA339522655	472	A>T		No	ClinGen gnomAD
rs200826045 CA724516	481	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777903844 CA724518	485	T>M		No	ClinGen ExAC gnomAD
CA724538 rs778090351	492	T>A		No	ClinGen ExAC TOPMed gnomAD
rs754100044 CA724539	494	T>S		No	ClinGen ExAC gnomAD
CA724540 rs757468910	495	I>V		No	ClinGen ExAC gnomAD
CA339523617 rs1468046691	498	S>N		No	ClinGen gnomAD
rs778918981 CA724541	501	L>I		No	ClinGen ExAC gnomAD
CA339523671 rs1244810012	502	A>T		No	ClinGen TOPMed
rs745905322 CA724542	502	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA724544 rs781148724	504	G>E		No	ClinGen ExAC gnomAD
TCGA novel	506	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724548 rs749013479	508	R>Q		No	ClinGen ExAC gnomAD
CA916139914 rs1558114194	509	Y>*		No	ClinGen Ensembl
TCGA novel	509	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148913273 CA20006278	510	S>G		No	ClinGen ESP TOPMed gnomAD
CA724550 rs773745988	512	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA724549 rs375615372	512	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs767940050 CA724552	515	A>T		No	ClinGen ExAC gnomAD
CA724555 rs369713323 CA724556	521	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs969632135 CA20006393	524	I>N		No	ClinGen Ensembl
rs1002575760 CA20006395	527	P>R		No	ClinGen Ensembl
rs1173509870 CA339523840	527	P>S		No	ClinGen TOPMed
CA339523838 rs1173509870	527	P>T		No	ClinGen TOPMed
CA339523850 rs1225032170	529	P>A		No	ClinGen Ensembl
CA20006403 rs779972883	531	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1178588215 CA339523870	532	E>K		No	ClinGen gnomAD
TCGA novel	533	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372946232 COSM908015 CA724562	533	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1365976907 CA339523887	534	T>I		No	ClinGen TOPMed
rs777766082 CA724564	535	A>G		No	ClinGen ExAC gnomAD
rs147988617 CA724563	535	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749032128 CA724565	538	R>Q		No	ClinGen ExAC gnomAD
rs745781158 CA339523910	538	R>W		No	ClinGen Ensembl
CA724566 rs770492941	539	A>V		No	ClinGen ExAC TOPMed gnomAD
rs567821678 CA20006472	540	S>F		No	ClinGen 1000Genomes
rs1315887859 CA339523924	541	R>Q		No	ClinGen TOPMed gnomAD
rs771654360 CA724569	541	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774976688 CA724570	542	S>I		No	ClinGen ExAC gnomAD
CA339523933 rs1287476127	542	S>R		No	ClinGen TOPMed gnomAD
CA724572 rs764529445	544	D>N		No	ClinGen ExAC gnomAD
CA339523941 rs764529445	544	D>Y		No	ClinGen ExAC gnomAD
rs972213355 CA20006549	545	G>R		No	ClinGen Ensembl
rs528436937 CA724587	546	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771612933 CA724588	547	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746453289 CA724590	550	D>N		No	ClinGen ExAC TOPMed gnomAD
rs537037014 CA724591 COSM908017	551	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs762208100 CA724593	552	A>T		No	ClinGen ExAC TOPMed gnomAD
CA724595 rs377642732	553	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377642732 CA724594	553	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs556816482 CA339525638	554	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA724596 rs556816482	554	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407526030 CA339525669	556	P>L		No	ClinGen gnomAD
rs766647770 CA724598	557	R>G		No	ClinGen ExAC gnomAD
CA724600 rs201952060	557	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs766647770 CA724597	557	R>W		No	ClinGen ExAC gnomAD
CA20017352 rs770445749	558	P>L		No	ClinGen Ensembl
CA339525674 rs1406231942	558	P>S		No	ClinGen gnomAD
rs1333019840 CA339525678	559	T>A		No	ClinGen gnomAD
CA339525682 rs1307998554	559	T>I		No	ClinGen TOPMed
CA339525677 rs1333019840	559	T>P		No	ClinGen gnomAD
CA339525685 rs1573175323	560	S>P		No	ClinGen Ensembl
CA339525691 rs1380045711	561	A>P		No	ClinGen gnomAD
rs143996470 CA724602	561	A>V		No	ClinGen ESP ExAC gnomAD
rs1357825188 CA339525701	563	A>T		No	ClinGen TOPMed gnomAD
CA339525709 rs1573175806	564	I>L		No	ClinGen Ensembl
rs750130518 CA724604	565	T>I		No	ClinGen ExAC gnomAD
CA724605 rs138888144	567	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779644852 CA724606	569	V>L		No	ClinGen ExAC TOPMed gnomAD
rs553098402 CA20017425	572	G>D		No	ClinGen 1000Genomes
CA339525759 rs1200237821	572	G>S		No	ClinGen gnomAD
CA724608 rs774641770	574	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201861523 CA724609	575	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs770184318 CA724611	576	D>E		No	ClinGen ExAC gnomAD
CA724610 rs748752649	576	D>H		No	ClinGen ExAC gnomAD
CA724612 rs773637980	581	K>N		No	ClinGen ExAC gnomAD
CA339525831 rs1480032163	584	V>L		No	ClinGen TOPMed
CA724613 rs759763337	587	A>V		No	ClinGen ExAC gnomAD
rs771309394 CA724614	593	K>E		No	ClinGen ExAC gnomAD
rs774665169 CA724615	595	E>K		No	ClinGen ExAC gnomAD
rs530909471 CA724617	599	E>G		No	ClinGen ExAC TOPMed gnomAD
CA724616 rs759809009	599	E>K		No	ClinGen ExAC gnomAD
CA724618 rs752707932	600	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA724620 rs371082716	601	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA20017474 rs371082716	601	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352781859 CA339525963	603	P>L		No	ClinGen TOPMed
rs750266916 CA724621	606	A>T		No	ClinGen ExAC gnomAD
CA339526002 rs1298923003	609	E>A		No	ClinGen TOPMed
CA339526005 rs1375826057	609	E>D		No	ClinGen TOPMed
rs1220267676 CA339526012	610	P>L		No	ClinGen gnomAD
CA724622 rs758144060	611	T>A		No	ClinGen ExAC TOPMed gnomAD
CA724625 rs751257027	613	A>E		No	ClinGen ExAC gnomAD
CA724624 rs751257027	613	A>V		No	ClinGen ExAC gnomAD
rs143402077 CA724626	614	W>L		No	ClinGen 1000Genomes ExAC gnomAD
CA724628 rs543782766	615	K>M		No	ClinGen 1000Genomes ExAC gnomAD
CA339526043 rs1191522965	615	K>N		No	ClinGen TOPMed gnomAD
rs543782766 CA724627	615	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA339526255 rs1264206407	619	T>I		No	ClinGen gnomAD
rs1340630145 CA339526260	620	H>D		No	ClinGen TOPMed
CA339526291 rs1343924563	622	E>G		No	ClinGen TOPMed
CA20021758 rs995238557 COSM908019	622	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1028510693 CA339526300	624	T>A		No	ClinGen TOPMed gnomAD
CA339526304 rs1279800613	624	T>I		No	ClinGen TOPMed
rs1028510693 CA20021761	624	T>P		No	ClinGen TOPMed gnomAD
rs1177700247 CA339526307	625	V>I		No	ClinGen gnomAD
CA724658 rs776772596	626	P>L		No	ClinGen ExAC
CA339526386 rs1441018178	632	Q>*		No	ClinGen gnomAD
rs1441018178 CA339526384	632	Q>E		No	ClinGen gnomAD
rs1367851223 CA339526400	633	T>P		No	ClinGen gnomAD
CA724661 rs149962963	633	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA339526426 rs1315456969	635	K>Q		No	ClinGen gnomAD
rs1316526192 CA339526430	635	K>R		No	ClinGen gnomAD
CA339526436 rs1379629204	636	L>F		No	ClinGen TOPMed
rs1218444233 CA339526440	637	A>T		No	ClinGen TOPMed gnomAD
rs758741883 CA724675	640	T>N		No	ClinGen ExAC gnomAD
rs1003754107 CA20021903	640	T>P		No	ClinGen TOPMed
CA339526466 rs1573322015	641	E>K		No	ClinGen Ensembl
rs1207668190 CA339526483	643	L>V		No	ClinGen gnomAD
rs201674226 CA724677	644	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1031646566 CA20021971	645	R>G		No	ClinGen gnomAD
CA724679 rs781142017	646	M>I		No	ClinGen ExAC gnomAD
CA724678 rs768914456	646	M>R		No	ClinGen ExAC gnomAD
CA339526511 rs1260977873	647	R>S		No	ClinGen TOPMed gnomAD
CA339526519 rs748156133	648	K>N		No	ClinGen ExAC TOPMed
rs1175556075 CA339526551	651	R>K		No	ClinGen TOPMed
CA339526564 rs1433937696	653	R>G		No	ClinGen gnomAD
rs780345005 CA724693	655	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1347391487 CA339526622	661	I>V		No	ClinGen gnomAD
rs1274576782 CA339526629	662	R>K		No	ClinGen gnomAD
rs748246317 CA724697	662	R>S		No	ClinGen ExAC gnomAD
CA339526653 rs1306629017	665	N>S		No	ClinGen gnomAD
rs777797434 CA724699	667	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1045009412 CA20023214	667	M>V		No	ClinGen Ensembl
CA724711 rs766839144	671	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1240284459 CA339526825	672	D>G		No	ClinGen gnomAD
rs755317500 CA724713	673	K>*		No	ClinGen ExAC gnomAD
CA724714 rs767844269	673	K>M		No	ClinGen ExAC gnomAD
CA724715 rs767844269	673	K>R		No	ClinGen ExAC gnomAD
TCGA novel	676	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724717 rs777888291	677	E>G		No	ClinGen ExAC gnomAD
CA724718 rs749331546	679	K>R		No	ClinGen ExAC gnomAD
rs141273297 CA724719	680	K>T		No	ClinGen ESP ExAC gnomAD
CA20026244 rs148358889	681	H>R		No	ClinGen ESP
CA339526960 rs1183376723	682	H>Y		No	ClinGen gnomAD
rs1234710991 CA339526984	684	S>G		No	ClinGen gnomAD
TCGA novel	684	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724721 rs746897420	685	I>V		No	ClinGen ExAC gnomAD
CA724722 rs768609152	688	L>R		No	ClinGen ExAC TOPMed gnomAD
rs148756198 CA20026282	697	P>A		No	ClinGen 1000Genomes
CA724723 rs776560225	697	P>L		No	ClinGen ExAC gnomAD
CA724725 rs142267469	700	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777520843 CA724724	700	R>W		No	ClinGen ExAC TOPMed gnomAD
CA339527206 rs1167624164	702	S>T		No	ClinGen gnomAD
CA339527225 rs1399123337	704	W>C		No	ClinGen gnomAD
CA724726 rs772607266	707	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA724727 rs772607266	707	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1341631 CA339527244 rs1330436509	707	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA339527246 rs1330436509	707	R>L		No	ClinGen TOPMed gnomAD
CA339527255 rs1446573787	709	S>P		No	ClinGen gnomAD
rs759931613 CA724730	710	T>A		No	ClinGen ExAC TOPMed gnomAD
rs767938360 CA724731	711	H>Q		No	ClinGen ExAC gnomAD
CA339527298 rs1196665580	716	T>A		No	ClinGen gnomAD
CA339527301 rs1490437215	716	T>S		No	ClinGen TOPMed
CA20026348 rs962067440	717	L>I		No	ClinGen Ensembl
CA724734 rs151256834	717	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339527311 rs1382065910	718	N>S		No	ClinGen gnomAD
CA724735 rs35738494	720	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs757405447 CA724736	721	G>R		No	ClinGen ExAC gnomAD
CA724737 rs201337247	721	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA339527343 rs1159762856	723	I>F		No	ClinGen TOPMed
TCGA novel	723	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA724739 rs754949095	725	T>I		No	ClinGen ExAC
rs138453402 CA724767	729	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237979474 CA339530032	736	T>S		No	ClinGen gnomAD
rs1285967890 CA339530038	737	V>A		No	ClinGen gnomAD
rs1558302957 CA339530047	739	I>V		No	ClinGen Ensembl
rs1486450525 CA339530072	742	N>S		No	ClinGen gnomAD
rs776025421 CA724768	743	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778836774 CA20047142	744	N>H		No	ClinGen TOPMed gnomAD
CA724770 rs769129156	744	N>S		No	ClinGen ExAC TOPMed gnomAD
rs745902060 CA20047151	747	K>R		No	ClinGen TOPMed
rs1437286255 CA339530106	748	S>G		No	ClinGen gnomAD
rs776843734 CA724771	750	I>M		No	ClinGen ExAC gnomAD
CA339530122 rs1157490267	750	I>V		No	ClinGen TOPMed gnomAD
rs1573907108 CA339530131	751	P>L		No	ClinGen Ensembl
CA339530134 rs1455330457	752	T>A		No	ClinGen TOPMed gnomAD
rs1161361605 CA339530138	752	T>I		No	ClinGen TOPMed gnomAD
rs762105115 CA724772	753	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1055670232 CA20047170	753	K>R		No	ClinGen TOPMed gnomAD
rs527487140 CA339530151	754	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750558736 CA724774	755	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA724775 rs547322551	757	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA724776 rs766549410	758	V>I		No	ClinGen ExAC TOPMed gnomAD
CA339530183 rs1165232169	759	H>Q		No	ClinGen TOPMed
rs146073770 CA724778	762	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427773232 CA339530203	763	K>E		No	ClinGen TOPMed
CA20047215 rs539378430	764	T>I		No	ClinGen 1000Genomes gnomAD
CA339530217 rs1356105546	765	I>L		No	ClinGen TOPMed gnomAD
CA339530218 rs1356105546	765	I>V		No	ClinGen TOPMed gnomAD
rs1214630660 CA339530233	767	Y>C		No	ClinGen gnomAD
rs1254531462 CA339530243	768	E>D		No	ClinGen gnomAD
CA724780 rs377592025	769	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA339530250 rs756938979	770	A>P		No	ClinGen ExAC TOPMed gnomAD
CA724781 rs756938979	770	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753698117 CA724798	773	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1255414282 CA339523982	774	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1475521665 CA339523995	775	N>S		No	ClinGen gnomAD
rs750141423 CA724800	777	G>E		No	ClinGen ExAC gnomAD
CA339524008 rs1421295153	777	G>R		No	ClinGen gnomAD
rs758031577 CA724801	778	D>N		No	ClinGen ExAC gnomAD
CA339524012 rs758031577	778	D>Y		No	ClinGen ExAC gnomAD
rs779550116 CA339524021	779	L>S		No	ClinGen ExAC TOPMed gnomAD
rs779550116 CA724802	779	L>W		No	ClinGen ExAC TOPMed gnomAD
CA339524044 rs1463615780	783	V>I		No	ClinGen gnomAD
CA339524045 rs1463615780	783	V>L		No	ClinGen gnomAD
rs1027047235 CA20009910	784	L>W		No	ClinGen Ensembl
rs1024414992 CA20009913	785	L>P		No	ClinGen TOPMed
rs1024414992 CA339524059	785	L>R		No	ClinGen TOPMed
CA339524100 rs755536973	788	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs781498835 CA724805	790	I>V		No	ClinGen ExAC gnomAD
CA724806 rs748670764	792	S>T		No	ClinGen ExAC gnomAD
rs1338983460 CA339524180	793	E>G		No	ClinGen gnomAD
CA339524198 rs1218343067	794	T>I		No	ClinGen gnomAD
rs77432961 CA339524209	795	P>L		No	ClinGen gnomAD
rs77432961 CA20009939	795	P>Q		No	ClinGen gnomAD
TCGA novel	796	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749582857 CA724809	798	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1558333574 CA339524260	798	T>S		No	ClinGen Ensembl
rs1260859866 CA339524306	801	T>S		No	ClinGen gnomAD
CA339524302 rs1213004691	801	T>S		No	ClinGen gnomAD
rs771221578 CA724810	802	Q>E		No	ClinGen ExAC gnomAD
CA724811 rs774579391	802	Q>R		No	ClinGen ExAC gnomAD
rs1209621160 CA339525176	806	T>N		No	ClinGen TOPMed
CA20012513 rs144717246	807	V>A		No	ClinGen ESP TOPMed
CA20012514 rs1004924600	808	K>E		No	ClinGen TOPMed gnomAD
rs1016015758 CA20012515	809	G>D		No	ClinGen Ensembl
CA724839 rs769650632	813	E>G		No	ClinGen ExAC TOPMed gnomAD
CA724840 rs148459745	815	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA724841 rs762682968	815	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339525284 rs762682968	815	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	816	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339525295 rs1160461798	816	I>T		No	ClinGen gnomAD
CA20012545 rs954392145	817	E>G		No	ClinGen Ensembl
rs1347374381 CA339525322	818	K>Q		No	ClinGen gnomAD
rs1372412247 CA339525347	819	R>K		No	ClinGen TOPMed
rs766136287 CA724842 COSM680096	823	T>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA339525427 rs1324804153	824	G>R		No	ClinGen TOPMed gnomAD
rs372284952 CA339525444	825	D>G		No	ClinGen ESP TOPMed gnomAD
rs1371222587 CA339525436	825	D>N		No	ClinGen gnomAD
CA20012559 rs372284952	825	D>V		No	ClinGen ESP TOPMed gnomAD
CA724843 rs376820266	827	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224340422 CA339525497	828	I>T		No	ClinGen gnomAD
rs1349298958 CA339525488	828	I>V		No	ClinGen gnomAD
rs759226090 CA724844	829	D>A		No	ClinGen ExAC
TCGA novel	830	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293155695 CA339525525	830	H>Y		No	ClinGen TOPMed
CA339526064 rs1419202701	834	L>F		No	ClinGen TOPMed
CA724871 rs750731570	840	E>G		No	ClinGen ExAC gnomAD
CA339526104 rs1356910911	840	E>K		No	ClinGen gnomAD
CA339526111 rs758576484	841	A>S		No	ClinGen ExAC gnomAD
CA724872 rs758576484	841	A>T		No	ClinGen ExAC gnomAD
rs112221827 CA20015028	842	K>E		No	ClinGen Ensembl
rs1006814552 CA20015030	842	K>N		No	ClinGen Ensembl
CA339526139 rs1357149252	845	H>Y		No	ClinGen gnomAD
CA339526147 rs1423537916	846	P>S		No	ClinGen TOPMed
rs747205367 CA724874	850	V>L		No	ClinGen ExAC gnomAD
CA20015036 rs763010193	852	K>E		No	ClinGen Ensembl
rs755086806 CA724876	853	V>M		No	ClinGen ExAC gnomAD
rs1001532396 CA20015039	854	V>I		No	ClinGen TOPMed gnomAD
rs1486863164 CA339526209	855	V>I		No	ClinGen TOPMed gnomAD
rs770799291 CA724879	856	H>P		No	ClinGen ExAC gnomAD
rs147642551 CA724878	856	H>Y		No	ClinGen ESP ExAC gnomAD
rs1297007517 CA339526253	857	Q>H		No	ClinGen TOPMed
TCGA novel	860	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201016843 CA724882	860	E>K		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with P11171

[MIM: 611804]: Elliptocytosis 1 (EL1)

A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269|PubMed:3467321}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269|PubMed:3467321}. Note=The disease is caused by variants affecting the gene represented in this entry.

11 regional properties for P11171

Type	Name	Position	InterPro Accession
domain	FERM domain	210 - 491	IPR000299
domain	SAB domain	667 - 715	IPR007477
domain	Band 4.1, C-terminal	753 - 860	IPR008379
domain	FERM adjacent	498 - 544	IPR014847
domain	FERM, N-terminal	214 - 276	IPR018979
domain	FERM, C-terminal PH-like domain	405 - 495	IPR018980
conserved_site	FERM conserved site	264 - 292	IPR019747-1
conserved_site	FERM conserved site	371 - 400	IPR019747-2
domain	FERM central domain	294 - 401	IPR019748
domain	Band 4.1 domain	206 - 401	IPR019749
domain	Band 4.1 protein, FERM domain, F1 sub-domain	210 - 292	IPR021187

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, cell cortex Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
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.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cortical cytoskeleton	The portion of the cytoskeleton that lies just beneath the plasma membrane.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.
spectrin-associated cytoskeleton	The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane.

8 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol binding	Binding to a phosphatidylinositol, a glycophospholipid with its sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
phosphoprotein binding	Binding to a phosphorylated protein.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein N-terminus binding	Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
spectrin binding	Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

10 GO annotations of biological process

Name	Definition
actin 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 comprising actin filaments and their associated proteins.
actomyosin structure 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 containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of protein localization to cell cortex	Any process that activates or increases the frequency, rate or extent of protein localization to cell cortex.
regulation of calcium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of intestinal absorption	Any process that modulates the frequency, rate or extent of intestinal absorption.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9N179	EPB41	Protein 4.1	Bos taurus (Bovine)	PR
Q9HCM4	EPB41L5	Band 4.1-like protein 5	Homo sapiens (Human)	PR
Q9HCS5	EPB41L4A	Band 4.1-like protein 4A	Homo sapiens (Human)	PR
Q7Z6J6	FRMD5	FERM domain-containing protein 5	Homo sapiens (Human)	PR
A2A2Y4	FRMD3	FERM domain-containing protein 3	Homo sapiens (Human)	PR
O43491	EPB41L2	Band 4.1-like protein 2	Homo sapiens (Human)	PR
Q9H4G0	EPB41L1	Band 4.1-like protein 1	Homo sapiens (Human)	PR
Q9Y2J2	EPB41L3	Band 4.1-like protein 3	Homo sapiens (Human)	PR
Q9Z2H5	Epb41l1	Band 4.1-like protein 1	Mus musculus (Mouse)	PR
O70318	Epb41l2	Band 4.1-like protein 2	Mus musculus (Mouse)	PR
Q9WV92	Epb41l3	Band 4.1-like protein 3	Mus musculus (Mouse)	PR
P48193	Epb41	Protein 4.1	Mus musculus (Mouse)	PR
Q9WTP0	Epb41l1	Band 4.1-like protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTTEKSLVTE	AENSQHQQKE	EGEEAINSGQ	QEPQQEESCQ	TAAEGDNWCE	QKLKASNGDT
70	80	90	100	110	120
PTHEDLTKNK	ERTSESRGLS	RLFSSFLKRP	KSQVSEEEGK	EVESDKEKGE	GGQKEIEFGT
130	140	150	160	170	180
SLDEEIILKA	PIAAPEPELK	TDPSLDLHSL	SSAETQPAQE	ELREDPDFEI	KEGEGLEECS
190	200	210	220	230	240
KIEVKEESPQ	SKAETELKAS	QKPIRKHRNM	HCKVSLLDDT	VYECVVEKHA	KGQDLLKRVC
250	260	270	280	290	300
EHLNLLEEDY	FGLAIWDNAT	SKTWLDSAKE	IKKQVRGVPW	NFTFNVKFYP	PDPAQLTEDI
310	320	330	340	350	360
TRYYLCLQLR	QDIVAGRLPC	SFATLALLGS	YTIQSELGDY	DPELHGVDYV	SDFKLAPNQT
370	380	390	400	410	420
KELEEKVMEL	HKSYRSMTPA	QADLEFLENA	KKLSMYGVDL	HKAKDLEGVD	IILGVCSSGL
430	440	450	460	470	480
LVYKDKLRIN	RFPWPKVLKI	SYKRSSFFIK	IRPGEQEQYE	STIGFKLPSY	RAAKKLWKVC
490	500	510	520	530	540
VEHHTFFRLT	STDTIPKSKF	LALGSKFRYS	GRTQAQTRQA	SALIDRPAPH	FERTASKRAS
550	560	570	580	590	600
RSLDGAAAVD	SADRSPRPTS	APAITQGQVA	EGGVLDASAK	KTVVPKAQKE	TVKAEVKKED
610	620	630	640	650	660
EPPEQAEPEP	TEAWKVEKTH	IEVTVPTSNG	DQTQKLAEKT	EDLIRMRKKK	RERLDGENIY
670	680	690	700	710	720
IRHSNLMLED	LDKSQEEIKK	HHASISELKK	NFMESVPEPR	PSEWDKRLST	HSPFRTLNIN
730	740	750	760	770	780
GQIPTGEGPP	LVKTQTVTIS	DNANAVKSEI	PTKDVPIVHT	ETKTITYEAA	QTDDNSGDLD
790	800	810	820	830	840
PGVLLTAQTI	TSETPSSTTT	TQITKTVKGG	ISETRIEKRI	VITGDADIDH	DQVLVQAIKE
850	860
AKEQHPDMSV	TKVVVHQETE	IADE