AiPD: Autoinhibited Protein Database

Q86VP3

Gene name	PACS2
Protein name	Phosphofurin acidic cluster sorting protein 2
Names	PACS-2, PACS1-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23241
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

150-221 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

150-221 (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

1 structures for Q86VP3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86VP3-F1	Predicted				AlphaFoldDB

685 variants for Q86VP3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001330281 rs2058502984	20	V>M	Developmental and epileptic encephalopathy, 66 [ClinVar]	Yes	ClinVar dbSNP
RCV001267839 rs1435095726	123	N>K	Developmental and epileptic encephalopathy, 66 [ClinVar]	Yes	ClinVar dbSNP
RCV001265915 RCV000677126 RCV002265812 rs1555408401 RCV001420210 RCV000782018 RCV001813790 VAR_081137 RCV000585789 CA391174500	209	E>K	Developmental and epileptic encephalopathy, 66 Intellectual disability Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 1 Inborn genetic diseases DEE66; increased interaction with SIRT1; increased interaction with HDAC1; increased interaction with TRPV1 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001252097 rs199748488 CA7388745 RCV001879843	399	D>E	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2081009644 RCV001879844 RCV001252099	431	R>Q	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs2081012243 RCV001196135	461	D>N	Developmental and epileptic encephalopathy, 66 [ClinVar]	Yes	ClinVar dbSNP
RCV001252096 RCV002069334 CA7389172 rs374373404	700	S>L	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2081364319 RCV001197217	725	S>T	Developmental and epileptic encephalopathy, 66 [ClinVar]	Yes	ClinVar dbSNP
CA391191387 rs1407823064	2	A>T		No	ClinGen gnomAD
CA391191394 rs1315973258	3	E>Q		No	ClinGen TOPMed
rs1463751418 CA391191402	4	R>*		No	ClinGen gnomAD
TCGA novel	4	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330015149 CA391191415	6	R>L		No	ClinGen gnomAD
CA266519682 rs921808841	7	L>F		No	ClinGen TOPMed gnomAD
CA391191430 rs1393599725	9	L>F		No	ClinGen gnomAD
CA391191440 rs1331076250	10	P>L		No	ClinGen TOPMed gnomAD
rs1201241587 CA391191452	12	A>V		No	ClinGen Ensembl
CA391191458 rs1265400263	13	P>L		No	ClinGen TOPMed gnomAD
rs1463654330 CA391191455	13	P>S		No	ClinGen TOPMed
CA266519696 rs1051508322	15	A>V		No	ClinGen TOPMed gnomAD
CA391191474 rs1476260575	16	L>P		No	ClinGen TOPMed gnomAD
rs1168591191 CA391191485	18	T>A		No	ClinGen TOPMed gnomAD
rs1566892440 CA391191626	21	P>A		No	ClinGen Ensembl
CA391191637 rs1198285597	22	M>L		No	ClinGen gnomAD
CA391191676 rs1321059129	23	N>K		No	ClinGen TOPMed
rs1023090773 CA391191718	25	F>L		No	ClinGen TOPMed gnomAD
rs1383045560 CA391191732	26	A>V		No	ClinGen TOPMed
CA266519720 rs970691446	27	T>A		No	ClinGen TOPMed gnomAD
CA391191752 rs1444165624	27	T>I		No	ClinGen TOPMed
rs750737597 CA7388249	33	S>P		No	ClinGen ExAC gnomAD
rs1431172087 CA391191903	35	P>H		No	ClinGen gnomAD
rs1357804593 CA391191901	35	P>T		No	ClinGen TOPMed gnomAD
CA391191958 rs1169339105	38	V>M		No	ClinGen gnomAD
COSM117608 rs1003413251 CA266534909	40	R>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1566926190 CA391198395	41	L>V		No	ClinGen Ensembl
TCGA novel	42	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781847893 CA391198413	43	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7388263 rs781847893	43	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1555403142 CA391198424	45	T>N		No	ClinGen gnomAD
rs587618706 CA7388266	50	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1595651086 CA391198463	51	V>G		No	ClinGen Ensembl
rs1182951417 CA391198480	54	E>K		No	ClinGen TOPMed gnomAD
CA391198546 rs1338363428	60	I>M		No	ClinGen TOPMed
rs117514922 CA7388270	61	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7388272 rs781917054	62	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782062538 CA7388273	63	V>L		No	ClinGen ExAC gnomAD
CA391198595 rs1381174273	65	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7388275 rs144456854	66	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs2060030134 RCV001200095	66	V>F		No	ClinVar dbSNP
rs782136702 CA7388276	68	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1555403167 CA391198633	68	M>V		No	ClinGen gnomAD
CA391199454 rs1555404167	70	G>R		No	ClinGen gnomAD
rs781944931 CA7388297	73	R>G		No	ClinGen ExAC gnomAD
rs782157245 CA7388298	73	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555404175 CA391199496	74	I>V		No	ClinGen gnomAD
CA7388299 rs782814845	76	R>Q		No	ClinGen ExAC gnomAD
rs1209362754 CA391199567	81	V>L		No	ClinGen TOPMed
rs1209362754 CA391199563	81	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782523522 CA7388302	84	P>S		No	ClinGen ExAC gnomAD
rs587669814 CA7388305	85	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7388306 rs201063885	85	S>I		No	ClinGen ExAC TOPMed gnomAD
rs201063885 COSM1368693 CA391199610	85	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782816086	85	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782278862 CA7388307	86	G>E		No	ClinGen ExAC TOPMed gnomAD
CA391199621 rs1384590066	86	G>R		No	ClinGen TOPMed
rs949391349 CA266537097	90	T>R		No	ClinGen TOPMed
rs1425778118	96	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566930636 CA391199730	96	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs782429503	97	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA391199754 rs1555404216	98	L>F		No	ClinGen gnomAD
CA391200430 rs1555405068	101	P>S		No	ClinGen gnomAD
CA7388341 rs146129304	103	F>L		No	ClinGen ESP ExAC gnomAD
rs909204022 CA266538433	106	R>S		No	ClinGen TOPMed
CA7388342 rs782203340	107	E>V		No	ClinGen ExAC gnomAD
CA391200507 rs1326995053	109	N>D		No	ClinGen TOPMed
rs781916206 CA7388344	109	N>S		No	ClinGen ExAC gnomAD
rs1595677337 CA391200514	110	K>E		No	ClinGen Ensembl
CA391200517 rs1224079453	110	K>R		No	ClinGen TOPMed
rs782063559 CA391200541	113	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7388346 rs782405230	114	M>I		No	ClinGen ExAC gnomAD
CA391200546 rs1442488430	114	M>T		No	ClinGen TOPMed
CA391200580 rs1555405087	119	K>R		No	ClinGen gnomAD
CA7388348 rs782135452	120	R>H		No	ClinGen ExAC gnomAD
TCGA novel	124	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391200632 rs1595677473	126	I>T		No	ClinGen Ensembl
rs1555405097 CA391200627	126	I>V		No	ClinGen gnomAD
TCGA novel	128	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7388351 rs782050259	131	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391200679 rs1555405106	134	A>S		No	ClinGen gnomAD
CA391200680 rs1555405106	134	A>T		No	ClinGen gnomAD
CA7388355 rs377453480	134	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA391200683 rs1187996421	135	G>S		No	ClinGen TOPMed
CA391200712 rs1595677585	139	M>V		No	ClinGen Ensembl
rs1463502972 CA391200719	140	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA391200724 rs1243711742	140	A>V		No	ClinGen TOPMed gnomAD
rs1595715302 CA391172570	142	V>G		No	ClinGen Ensembl
rs782234312 CA7388385	145	H>Y		No	ClinGen ExAC gnomAD
rs1214319249 CA391172716	146	P>L		No	ClinGen TOPMed
rs1214319249 CA391172718	146	P>R		No	ClinGen TOPMed
rs1555408144 CA391172715 COSM1719841	146	P>S	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7388387 rs781958319	150	G>D		No	ClinGen ExAC gnomAD
rs782108001 CA391172805	151	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7388388 RCV002541608 RCV001263325 rs782108001	151	Q>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555408154 CA391172846	152	V>A		No	ClinGen gnomAD
rs1555408154 CA391172869	152	V>G		No	ClinGen gnomAD
rs782705203 CA7388389	152	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781942725 CA7388390	154	S>G		No	ClinGen ExAC gnomAD
rs1555408160 CA391172899	154	S>N		No	ClinGen gnomAD
CA7388392 rs782804554	157	S>I		No	ClinGen ExAC gnomAD
CA391173069 rs1555408165	158	S>C		No	ClinGen TOPMed gnomAD
rs781856573 CA7388393	159	I>V		No	ClinGen ExAC gnomAD
rs1311131316 CA391173203	160	K>R		No	ClinGen TOPMed
rs1595715461 CA391173221	161	E>K		No	ClinGen Ensembl
rs782514056 CA7388394	162	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391173308 rs1359644613	163	P>S		No	ClinGen TOPMed
rs1555408179 CA391173325	164	V>I		No	ClinGen gnomAD
CA7388396 rs111376436	166	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7388400 CA7388399 rs782291172	168	E>D		No	ClinGen ExAC gnomAD
COSM953986 rs374606643 CA7388398	168	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7388401 rs782634591	169	I>L		No	ClinGen ExAC gnomAD
rs782218796 CA7388402	172	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	174	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782360509 CA7388403	174	L>P		No	ClinGen ExAC gnomAD
CA7388404 rs782583900	175	S>F		No	ClinGen ExAC gnomAD
CA7388405 rs782204977	176	S>N		No	ClinGen ExAC gnomAD
CA391173649 rs1555408186	177	Q>K		No	ClinGen gnomAD
rs1189415917 CA391173715	179	I>V		No	ClinGen TOPMed
rs782410632 CA7388406 COSM84270	180	D>G	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1566945977 CA391173762	181	H>L		No	ClinGen Ensembl
TCGA novel	182	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782118466 CA7388408	182	E>K		No	ClinGen ExAC gnomAD
CA266564945 rs897491909	183	D>A		No	ClinGen gnomAD
CA391173807 rs1555408194	183	D>Y		No	ClinGen gnomAD
CA7388410 rs377643544	184	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7388411 rs377643544	184	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs8010888 CA7388413 VAR_028947	185	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782162190 CA7388414	186	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7388417 rs781868356	189	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7388416 COSM3689912 rs781868356	189	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA391174009 rs1555408212	192	A>D		No	ClinGen gnomAD
CA391174003 rs1555408209	192	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs374570964 CA7388420	195	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1300446 CA391174069 rs1379927163	195	T>M	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7388449 rs782222051	196	D>G		No	ClinGen ExAC gnomAD
rs1347511891 CA391174246	197	N>D		No	ClinGen TOPMed
rs1555408385 CA391174312	200	E>K		No	ClinGen gnomAD
CA391174347 rs1338608229	201	E>D		No	ClinGen TOPMed
rs1555408390 CA7388452	206	F>C		No	ClinGen Ensembl
TCGA novel	208	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782820291 CA7388455	210	Q>K		No	ClinGen ExAC
CA391174553 RCV000995265 rs1595718024	211	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs781841033 CA7388460	215	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7388458 rs782729940	215	D>N		No	ClinGen ExAC gnomAD
CA7388461 rs200599760	216	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7388464 rs782653328	217	V>G		No	ClinGen ExAC gnomAD
CA266565386 rs147003362	217	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7388463 rs147003362	217	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782203568 CA7388465	218	Q>R		No	ClinGen ExAC gnomAD
rs782479015 CA7388466	219	G>A		No	ClinGen ExAC gnomAD
CA391175398 rs781891896	221	D>E		No	ClinGen ExAC gnomAD
CA7388500 rs782173977	223	D>G		No	ClinGen ExAC gnomAD
COSM3711433 CA391175440 rs1555408517	224	E>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA266565747 rs368127909	225	D>N		No	ClinGen Ensembl
CA7388503 COSM1219101 rs369363280	226	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA391175513 rs1478820102	227	F>L		No	ClinGen TOPMed gnomAD
CA7388504 rs782188439	228	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM1368696 rs782690320 CA7388507	229	V>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7388506 rs587705831	229	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7388509 rs782389056	232	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7388511 rs782227644	234	K>E		No	ClinGen ExAC gnomAD
CA7388512 rs782299087	235	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA7388513 rs781928681	235	Q>R		No	ClinGen ExAC gnomAD
CA391175669 rs782422954	236	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7388515 rs782422954	236	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7388514 rs782151393	236	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7388516 rs145923328	238	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA391175723 rs1399881176	239	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA266565828 rs782333563	239	I>V		No	ClinGen gnomAD
CA7388518 rs782734762	240	V>L		No	ClinGen ExAC gnomAD
CA266565838 rs780880602	242	T>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391175774 rs780880602	242	T>R		No	ClinGen TOPMed gnomAD
CA391175788 rs782052957	243	T>K		No	ClinGen ExAC gnomAD
CA7388520 rs782052957	243	T>M		No	ClinGen ExAC gnomAD
rs781821323 CA7388525	245	M>T		No	ClinGen ExAC gnomAD
CA7388524 rs782768000	245	M>V		No	ClinGen ExAC TOPMed gnomAD
rs782484100 CA7388526	247	R>G		No	ClinGen ExAC gnomAD
rs1555408570 CA391175855	247	R>K		No	ClinGen gnomAD
rs782201952 CA7388554	248	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs782408285 CA7388555	249	Q>*		No	ClinGen ExAC gnomAD
rs1555408909 CA391176132	250	N>I		No	ClinGen gnomAD
CA7388556 rs781980102	251	F>L		No	ClinGen ExAC gnomAD
TCGA novel	253	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391176218 rs1555408910	255	V>M		No	ClinGen gnomAD
TCGA novel	256	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391176246 rs1555408912	257	A>T		No	ClinGen gnomAD
CA391176297 rs1213266867	260	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782341148 CA7388558	260	R>W		No	ClinGen ExAC gnomAD
rs781966275 CA7388559	261	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7388560 rs782043163	264	V>L		No	ClinGen ExAC TOPMed gnomAD
CA391176357 rs782043163	264	V>M		No	ClinGen ExAC TOPMed gnomAD
rs148337393 CA7388563	266	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	267	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782766885 CA7388564	267	E>K		No	ClinGen ExAC gnomAD
rs782277649 CA7388601	268	V>I		No	ClinGen ExAC gnomAD
CA7388602 rs782277649	268	V>L		No	ClinGen ExAC gnomAD
TCGA novel	270	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781996736 CA7388603 COSM432756	271	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA391178601 rs1231935589	273	Q>E		No	ClinGen TOPMed
CA391178631 rs1201954528	274	D>E		No	ClinGen TOPMed gnomAD
rs931825969 CA266571482	274	D>G		No	ClinGen Ensembl
rs1274656440 CA391178662	276	A>S		No	ClinGen TOPMed
rs377732984 CA7388607	276	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA391178738 rs1248593195	281	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	281	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380289148 CA391178748	281	E>V		No	ClinGen TOPMed gnomAD
CA7388611 rs782797941	282	A>V		No	ClinGen ExAC gnomAD
CA391178781 rs141446475	283	E>A		No	ClinGen ESP TOPMed gnomAD
rs141446475 CA266571490	283	E>G		No	ClinGen ESP TOPMed gnomAD
CA391178773 rs1555410545	283	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391178831 rs1555410566	286	L>P		No	ClinGen gnomAD
CA7388613 rs781826931 RCV001092395	287	D>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7388612 rs781826931	287	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391178854 rs1424017269	288	L>P		No	ClinGen TOPMed gnomAD
rs373196528 CA7388617	290	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424206780 CA391178915	292	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782182115 CA7388621	293	L>P		No	ClinGen ExAC TOPMed gnomAD
rs587749018 CA7388620	293	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377119981 CA7388622	295	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377119981 CA391178945	295	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA391178961 rs1490343454	296	E>Q		No	ClinGen TOPMed
rs1595743934 CA391178980	297	H>P		No	ClinGen Ensembl
rs1555410594 CA391178992	298	P>L		No	ClinGen gnomAD
TCGA novel	299	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7388624 rs4074003	299	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391179015 rs782773260	300	D>N		No	ClinGen ExAC gnomAD
CA7388625 rs782773260	300	D>Y		No	ClinGen ExAC gnomAD
CA7388627 rs782087208	302	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7388629 rs370457228	305	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782463631 CA7388631	306	E>D		No	ClinGen ExAC gnomAD
TCGA novel	306	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391179138 rs1555410606	308	D>Y		No	ClinGen gnomAD
CA391179155 COSM953988 rs1375798643	309	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782499215 CA7388633	310	S>G		No	ClinGen ExAC gnomAD
rs782607135 COSM1219102 CA7388634	311	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1595744112 CA391179225	314	T>P		No	ClinGen Ensembl
CA7388636 rs782449700	317	P>L		No	ClinGen ExAC gnomAD
CA391179311 rs1458292215	320	R>L		No	ClinGen TOPMed gnomAD
CA391179308 rs1458292215	320	R>Q		No	ClinGen TOPMed gnomAD
CA7388640 rs782630893	320	R>W		No	ClinGen ExAC gnomAD
rs782357921 CA7388666	325	G>D		No	ClinGen ExAC gnomAD
CA7388667 rs781917667	327	S>L		No	ClinGen ExAC gnomAD
CA7388668 rs782062290	328	H>R		No	ClinGen ExAC gnomAD
rs782807257 CA7388669	329	S>L		No	ClinGen ExAC gnomAD
rs782107495 CA7388671	331	S>P		No	ClinGen ExAC gnomAD
CA7388672 rs782775661	331	S>W		No	ClinGen ExAC gnomAD
CA7388673 rs200473031	333	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA391180059 rs1555411441	334	E>K		No	ClinGen gnomAD
rs1555411442 CA391180109	335	I>T		No	ClinGen gnomAD
rs1233272473 CA391180099	335	I>V		No	ClinGen TOPMed gnomAD
rs140169632 CA266573556	337	S>G		No	ClinGen ESP TOPMed
CA7388674 rs782491490	340	S>G		No	ClinGen ExAC gnomAD
CA7388676 rs116085053	341	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782535850 CA7388677	342	R>C		No	ClinGen ExAC TOPMed gnomAD
CA391180251 rs782690675	342	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782690675 CA7388678	342	R>P		No	ClinGen ExAC TOPMed gnomAD
CA391180367 rs1555411456	347	P>L		No	ClinGen gnomAD
rs1555411455 CA391180350	347	P>S		No	ClinGen gnomAD
TCGA novel	348	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782524811 CA7388680	349	S>G		No	ClinGen ExAC gnomAD
CA7388681 rs144782330	349	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782325438	350	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs782179266 CA7388682	350	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391180528 rs1455297417	353	V>M		No	ClinGen TOPMed gnomAD
CA391180557 rs1395253505	354	P>L		No	ClinGen TOPMed
rs372845683 CA7388700	354	P>S		No	ClinGen ESP ExAC gnomAD
CA7388701 rs587614619	355	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7388702 rs782633525	357	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782633525 CA391180610	357	T>R		No	ClinGen ExAC TOPMed gnomAD
rs782336809 CA7388704	358	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV001879925 CA391180616 RCV001255025 rs1488845742	358	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA391180629 rs1566959338	359	S>T		No	ClinGen Ensembl
TCGA novel	360	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391180664 rs1595145698	360	L>R		No	ClinGen Ensembl
rs1555411549 CA391180689	362	G>S		No	ClinGen gnomAD
CA391180703 rs1555411554	363	R>G		No	ClinGen gnomAD
CA266573842 rs782571727	364	Q>L		No	ClinGen gnomAD
CA391180726 rs782571727	364	Q>R		No	ClinGen gnomAD
rs1555411561 CA391180740	365	P>L		No	ClinGen gnomAD
rs1555411561 CA391180738	365	P>R		No	ClinGen gnomAD
rs782010997 CA7388706	367	D>H		No	ClinGen ExAC TOPMed gnomAD
rs782010997 CA391180761	367	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1555411566 CA391180799	369	V>A		No	ClinGen gnomAD
CA7388707 rs782331454	372	T>A		No	ClinGen ExAC TOPMed gnomAD
CA391180838 rs1555411570	372	T>M		No	ClinGen gnomAD
CA391180831 rs782331454	372	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1374693365 CA391180858	374	A>S		No	ClinGen TOPMed gnomAD
rs1029102035 CA266574399	376	G>A		No	ClinGen gnomAD
CA391181146 rs782055140	376	G>R		No	ClinGen ExAC gnomAD
CA7388730 rs782055140	376	G>S		No	ClinGen ExAC gnomAD
CA391181148 rs1029102035	376	G>V		No	ClinGen gnomAD
rs1555411834 CA391181163	379	G>S		No	ClinGen gnomAD
rs374328880 CA7388732	380	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7388733 rs374328880	380	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7388731 rs201854785	380	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA391181167 rs201854785	380	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782094748 CA7388736	382	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1595149392 CA391181187	383	H>P		No	ClinGen Ensembl
CA391181196 rs1555411853	384	P>L		No	ClinGen gnomAD
CA391181195 rs1555411853	384	P>R		No	ClinGen gnomAD
rs782701010 CA391181193	384	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782701010 CA7388737	384	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	385	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7388741 rs781860105	392	E>K		No	ClinGen ExAC gnomAD
CA7388742 rs782528386	393	A>T		No	ClinGen ExAC TOPMed gnomAD
CA266574442 rs972818545	394	E>A		No	ClinGen TOPMed
rs1555411865 CA391181290	399	D>H		No	ClinGen gnomAD
CA266574477 rs931236756	401	F>L		No	ClinGen TOPMed gnomAD
rs139419197 CA7388748	402	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7388747 rs139419197	402	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781917594 CA7388752	406	P>A		No	ClinGen ExAC gnomAD
CA7388753 rs145012533	406	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782111780 CA7388756	409	G>R		No	ClinGen ExAC gnomAD
CA391181358 rs1555411885	410	R>K		No	ClinGen Ensembl
TCGA novel	410	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7388758 rs781833579	421	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7388759 rs782493843	422	T>N		No	ClinGen ExAC gnomAD
rs782736529 CA7388784	425	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782736529 CA7388783	425	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA391181467 rs1555412122	425	E>V		No	ClinGen gnomAD
CA391181474 rs1555412125	426	G>E		No	ClinGen gnomAD
rs1555412128 CA391181493	429	A>T		No	ClinGen gnomAD
CA391181499 rs1555412129	430	G>S		No	ClinGen gnomAD
CA391181506 rs1555412137	431	R>*		No	ClinGen gnomAD
rs782447902 CA7388785	432	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1555412143 CA391181522	434	R>Q		No	ClinGen gnomAD
TCGA novel	434	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391181601 rs1555412152	441	R>Q		No	ClinGen gnomAD
CA7388786 rs147649140	441	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	442	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	443	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555412158 CA391181639	444	A>V		No	ClinGen gnomAD
CA7388788 rs782557224	445	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782277412 CA391181646	445	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391181691 rs1555412162	448	N>S		No	ClinGen gnomAD
TCGA novel	449	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211341850 CA391181717	450	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	453	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782260838 CA7388790	457	E>K		No	ClinGen ExAC gnomAD
CA391181810 rs782260838	457	E>Q		No	ClinGen ExAC gnomAD
CA391181825 rs1284802442	458	R>C		No	ClinGen TOPMed gnomAD
rs1237381750 CA391181830	458	R>H		No	ClinGen TOPMed gnomAD
rs898078656 CA266575137	459	C>F		No	ClinGen TOPMed gnomAD
CA7388791 rs782338637	459	C>R		No	ClinGen ExAC TOPMed gnomAD
CA7388792 rs587775302	460	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372204325 CA7388795	462	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372204325 CA7388794	462	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782112732 CA7388796	463	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1418013429 CA391181888	463	R>Q		No	ClinGen TOPMed gnomAD
CA391181887 rs782112732	463	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1410234606 CA391181897	464	S>R		No	ClinGen TOPMed gnomAD
CA266575152 rs888172387	464	S>T		No	ClinGen Ensembl
CA391181964 rs1373882825	468	I>M		No	ClinGen TOPMed gnomAD
CA7388818 rs782415606	469	P>L		No	ClinGen ExAC gnomAD
CA7388819 rs782028176	470	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1555412306 CA391181971	470	R>T		No	ClinGen gnomAD
rs782122079 CA7388820	473	V>M		No	ClinGen ExAC gnomAD
rs781824809 CA391182009	475	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7388824 rs782698341	479	H>L		No	ClinGen ExAC TOPMed gnomAD
rs782698341 CA391182037	479	H>R		No	ClinGen ExAC TOPMed gnomAD
rs781811072 CA7388825	480	I>N		No	ClinGen ExAC gnomAD
rs1251824361 CA391182055	482	I>N		No	ClinGen TOPMed gnomAD
rs150142760 CA266575521	483	S>F		No	ClinGen ESP
CA7388828 rs781870630	484	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391182065 rs781870630	484	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA391182082 rs1555412321	486	Q>P		No	ClinGen gnomAD
rs781787526 CA266575538	487	L>V		No	ClinGen TOPMed
rs1353150695 CA391182094	488	P>S		No	ClinGen TOPMed
CA391182098 rs1555412324	489	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs61984702 CA266575546	490	N>K		No	ClinGen Ensembl
CA7388832 rs782325580	492	I>L		No	ClinGen ExAC TOPMed gnomAD
VAR_053798 rs4076933	493	L>S		No	UniProt dbSNP
COSM1607433 rs1555412328 CA391182449	494	V>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782287853 CA7388834	496	T>I		No	ClinGen ExAC TOPMed gnomAD
rs782371346 CA391182488	497	S>*		No	ClinGen ExAC gnomAD
CA7388835 rs782371346	497	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391182517 rs1347154105	499	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	503	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781949173 CA391182628	506	D>A		No	ClinGen ExAC gnomAD
rs782301844 CA7388858	506	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781949173 CA7388860	506	D>V		No	ClinGen ExAC gnomAD
rs782301844 CA7388859	506	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1555412408 CA391182634	507	V>I		No	ClinGen gnomAD
rs1555412412 CA391182668	510	R>K		No	ClinGen gnomAD
rs1555412415 CA391182672	510	R>S		No	ClinGen gnomAD
rs782698783 CA7388862	511	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	512	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7388864 rs782149744 COSM953990	512	T>M	Variant assessed as Somatic; 5.804e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782149744 CA391182693	512	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1555412421 CA391182709	514	P>S		No	ClinGen gnomAD
CA7388867 rs372817963	515	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391182729 rs1555412428	516	V>L		No	ClinGen gnomAD
CA266575830 rs587696332	518	T>A		No	ClinGen 1000Genomes
rs782434828 CA7388870	519	C>F		No	ClinGen ExAC gnomAD
rs782434828 CA391182768	519	C>Y		No	ClinGen ExAC gnomAD
CA391182781 rs1555412447	520	S>C		No	ClinGen gnomAD
CA391182782 rs1555412447	520	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000995266 rs782592280 CA7388871	522	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201367145 CA7388873	524	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391182808 rs201367145	524	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7388874 rs375996521	526	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555412458 CA391182835	527	A>P		No	ClinGen gnomAD
CA391182834 rs1555412458	527	A>T		No	ClinGen gnomAD
COSM953991 CA7388876 rs782352968	527	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA391182855 rs781912375	528	F>L		No	ClinGen ExAC gnomAD
rs1555412464 CA391182866	529	S>R		No	ClinGen gnomAD
rs984800761 CA266575874	530	T>I		No	ClinGen TOPMed
rs782187620 CA7388878	531	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7388880 rs782033591	532	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782114646 CA7388881	534	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA266575891 rs982124932	534	R>W		No	ClinGen Ensembl
rs1555412478 CA391182916	535	I>T		No	ClinGen gnomAD
rs1555412480 CA391182946	537	R>S		No	ClinGen gnomAD
CA7388883 rs781953447	538	Y>D		No	ClinGen ExAC gnomAD
CA7388944 rs782391411	541	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1202811767 CA391183576	542	N>H		No	ClinGen TOPMed
rs1555412655 CA391183602	544	Q>R		No	ClinGen gnomAD
CA391183630 rs1555412660	547	T>A		No	ClinGen gnomAD
rs782691584 CA7388947	547	T>N		No	ClinGen ExAC gnomAD
rs781934467 CA7388948	548	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7388950 rs782813009	549	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7388951 rs781864278	550	K>R		No	ClinGen ExAC gnomAD
rs782751075 CA7388953	552	A>T		No	ClinGen ExAC gnomAD
rs782459999 CA7388955	553	V>M		No	ClinGen ExAC gnomAD
CA7388956 COSM697774 rs782650153	554	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7388958 rs782500261	556	A>V		No	ClinGen ExAC gnomAD
rs1555412683 CA391183725	557	Q>E		No	ClinGen gnomAD
rs1595158068 CA391183745	559	Y>S		No	ClinGen Ensembl
rs200405575 CA7388961	561	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391183761 rs1444048860	562	A>T		No	ClinGen TOPMed
CA391183768 rs1354803556	563	I>V		No	ClinGen TOPMed
rs142789946 CA7388963	564	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555412690 CA391183779	565	R>Q		No	ClinGen gnomAD
rs782038571 CA7388965	565	R>W	Variant assessed as Somatic; 5.304e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1163594596 CA391183782	566	L>I		No	ClinGen TOPMed
rs782395088 CA7388968	573	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1555412698 CA391183831	573	H>Y		No	ClinGen gnomAD
CA7388969 rs782104181	576	P>S		No	ClinGen ExAC gnomAD
CA391183858 rs1481804057	577	D>G		No	ClinGen TOPMed
CA7388971 rs74466343	577	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391183856 rs74466343	577	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555412705 CA391183878	580	G>S		No	ClinGen gnomAD
CA391183892 rs1252899760	582	M>V		No	ClinGen TOPMed
rs782756538 CA7388973	583	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7388974 rs781868059	583	R>H		No	ClinGen ExAC gnomAD
CA391183900 rs782756538	583	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7389007 rs781953013	594	V>L		No	ClinGen ExAC gnomAD
CA266576925 rs895502253	595	A>G		No	ClinGen Ensembl
rs1055482161 CA266576922	595	A>T		No	ClinGen Ensembl
CA7389009 rs782312228	601	V>M		No	ClinGen ExAC gnomAD
rs1365157286 CA391184035	603	Y>N		No	ClinGen TOPMed
CA7389011 rs757517050	604	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7389012 rs782813839	604	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782727405 CA7389015	607	N>K		No	ClinGen ExAC gnomAD
CA7389014 rs201080466	607	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7389017 rs782444788	611	D>N		No	ClinGen ExAC gnomAD
rs781901106 CA7389019	613	A>S		No	ClinGen ExAC gnomAD
CA7389020 rs782496059	613	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7389021 rs782655286	615	R>K		No	ClinGen ExAC gnomAD
CA7389023 rs782493331	616	D>Y		No	ClinGen ExAC gnomAD
CA391184132 rs1555413024	617	L>V		No	ClinGen gnomAD
CA7389024 rs369474993	618	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs782192283 CA7389025	619	N>D		No	ClinGen ExAC TOPMed gnomAD
CA391184151 rs1555413041	620	K>E		No	ClinGen gnomAD
CA391184161 rs1555413048	621	L>P		No	ClinGen gnomAD
CA391184174 rs782249992	623	A>D		No	ClinGen ExAC gnomAD
CA391184175 rs782249992	623	A>G		No	ClinGen ExAC gnomAD
CA7389028 rs782249992	623	A>V		No	ClinGen ExAC gnomAD
CA391184182 rs1555413050	624	Q>H		No	ClinGen gnomAD
rs1242333746 CA391184185	625	S>G		No	ClinGen TOPMed
CA391184193 rs1198463942	626	A>P		No	ClinGen TOPMed
CA7389029 COSM1235770 rs201652289	626	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs376311769 COSM1607434 CA7389062	630	T>M	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA391184239 rs1555413174	631	P>L		No	ClinGen gnomAD
CA391184250 rs1555413175	633	I>L		No	ClinGen gnomAD
rs1595164551 CA391184266	635	S>L		No	ClinGen Ensembl
COSM3689913 CA7389064 rs782754114	636	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA391184271 rs1555413183	636	R>H		No	ClinGen gnomAD
rs781787263 CA7389066	638	T>M		No	ClinGen ExAC TOPMed gnomAD
CA391184286 rs1555413191	639	Q>*		No	ClinGen gnomAD
rs587769052 CA391184292	639	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs781877756 CA7389069	641	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1555413199 CA391184311	642	A>G		No	ClinGen gnomAD
CA391184308 rs369928489	642	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7389070 rs369928489	642	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1555413201 CA391184316	643	G>E		No	ClinGen gnomAD
CA391184313 rs1291794705	643	G>R		No	ClinGen TOPMed
CA391184323 rs1555413202	644	A>V		No	ClinGen gnomAD
rs587640790 CA7389071	645	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587640790 CA391184328	645	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391184333 rs1349540794	646	C>R		No	ClinGen TOPMed gnomAD
CA7389072 rs782388584	647	A>T		No	ClinGen ExAC
rs1555413216 CA391184354	649	Q>*		No	ClinGen gnomAD
CA391184357 rs1286067981	649	Q>R		No	ClinGen TOPMed
CA391184370 rs868930556	651	P>H		No	ClinGen Ensembl
CA391184367 rs1555413219	651	P>S		No	ClinGen gnomAD
CA391184374 rs1555413224	652	I>V		No	ClinGen gnomAD
TCGA novel	653	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782564104 COSM953992 CA7389074	655	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA391184437 rs1555413235	661	Q>*		No	ClinGen gnomAD
CA391184450 rs1436413785 COSM1514741	662	K>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1348621927 CA391184456	663	S>I		No	ClinGen TOPMed gnomAD
CA391184454 rs1348621927	663	S>N		No	ClinGen TOPMed gnomAD
rs781785073 CA7389105	664	P>S		No	ClinGen ExAC gnomAD
CA391184936 rs782462194	665	D>E		No	ClinGen ExAC TOPMed
TCGA novel	667	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781905333 CA7389109	668	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1555414465 CA391184964	668	S>T		No	ClinGen gnomAD
TCGA novel	672	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782503861 CA7389110	673	I>L		No	ClinGen ExAC TOPMed gnomAD
CA7389111 COSM953994 rs782503861	673	I>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	682	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7389133 rs781848588	683	I>V		No	ClinGen ExAC gnomAD
rs1329088846 CA391185533	684	V>M		No	ClinGen TOPMed
CA7389135 rs587750276	685	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs368898941 CA7389137	688	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1555414742 CA391185587	689	A>T		No	ClinGen gnomAD
CA391185594 rs1555414745	689	A>V		No	ClinGen gnomAD
CA391185607 rs1555414748	691	S>P		No	ClinGen gnomAD
rs1555414840 CA391185667	693	D>N		No	ClinGen gnomAD
CA7389162 rs782260236	694	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1451165425 CA391185697	695	D>A		No	ClinGen TOPMed gnomAD
CA391185701 rs139536717	695	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA391185698 rs1451165425	695	D>G		No	ClinGen TOPMed gnomAD
CA391185699 rs1451165425	695	D>V		No	ClinGen TOPMed gnomAD
CA391185695 rs1555414848	695	D>Y		No	ClinGen gnomAD
rs1555414854 CA391185706	696	D>A		No	ClinGen gnomAD
CA7389166 rs782667380	696	D>E		No	ClinGen ExAC TOPMed gnomAD
rs969435213 CA266583154	696	D>N		No	ClinGen TOPMed gnomAD
CA7389167 rs781979650	697	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782090493 CA7389168	697	A>V		No	ClinGen ExAC gnomAD
CA391185736 rs1555414866	699	P>L		No	ClinGen gnomAD
CA7389171 rs781857860	699	P>S		No	ClinGen ExAC gnomAD
CA391185737 rs1555414868	700	S>T		No	ClinGen gnomAD
CA391185780 rs1395890539	703	G>D		No	ClinGen TOPMed
rs587745743 CA7389176	704	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782212103 CA7389177	705	L>F		No	ClinGen ExAC gnomAD
CA7389179 rs782516261	705	L>R		No	ClinGen ExAC
CA391185826 rs1555414895	708	T>I		No	ClinGen gnomAD
CA391185819 rs1595188562	708	T>P		No	ClinGen Ensembl
rs587610084 CA7389180	709	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7389182 rs147461490	710	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7389183 rs147461490	710	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	711	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391185846 rs1195604188	711	S>P		No	ClinGen TOPMed
CA391185861 rs1206720330	712	A>G		No	ClinGen TOPMed gnomAD
rs782122419 CA7389187	712	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1206720330 CA391185860	712	A>V		No	ClinGen TOPMed gnomAD
rs782816794 CA7389188	713	S>F		No	ClinGen ExAC gnomAD
rs782023692 CA7389189	714	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	715	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342459526 CA391185879	715	A>S		No	ClinGen TOPMed gnomAD
rs1342459526 CA391185880	715	A>T		No	ClinGen TOPMed gnomAD
CA7389190 rs782067835	715	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391185925 rs587624621	719	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7389192 rs587624621	719	A>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	721	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555414950 CA391185961	722	T>S		No	ClinGen gnomAD
CA7389196 rs781856072	723	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1363795667 CA391185967	723	P>S		No	ClinGen TOPMed
CA7389198 rs782663401	724	P>L		No	ClinGen ExAC gnomAD
CA7389201 rs782503263	727	P>L		No	ClinGen ExAC gnomAD
rs372438559 CA7389202	728	S>L		No	ClinGen ESP TOPMed
rs372438559 CA391186024	728	S>W		No	ClinGen ESP TOPMed
CA391186025 rs1175727279	729	V>M		No	ClinGen TOPMed
rs782264777 CA7389205	730	S>G		No	ClinGen ExAC gnomAD
COSM3814368 rs1555414972 CA391186049	731	G>E	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782373206 CA7389206	731	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782686270 CA7389207	732	G>S		No	ClinGen ExAC gnomAD
rs1555414976 CA391186084	734	S>F		No	ClinGen gnomAD
CA7389209 rs782331582	736	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1307541770 CA391186290	738	Q>R		No	ClinGen TOPMed gnomAD
CA7389232 rs201037630	739	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781913910 CA7389233	740	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7389235 rs587608008	741	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151199705 CA7389237	742	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7389239 rs140331410	743	E>K		No	ClinGen ESP ExAC gnomAD
rs1595192643 CA391186448	745	M>R		No	ClinGen Ensembl
rs1297522038 CA391186662	753	T>M		No	ClinGen TOPMed
rs1555415230 CA391186680	754	A>T		No	ClinGen gnomAD
rs150343495 CA7389242	756	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391186787 rs1555415243	757	P>L		No	ClinGen gnomAD
rs936461647 CA266583933	758	A>T		No	ClinGen Ensembl
CA7389243 rs587631980	758	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7389245 rs782288505	764	A>T		No	ClinGen ExAC gnomAD
CA7389248 rs782572509	765	E>K		No	ClinGen ExAC
rs1555415261 CA391187104	766	K>N		No	ClinGen gnomAD
rs782175813 CA7389249	768	D>A		No	ClinGen ExAC gnomAD
rs1595192874 CA391187180	769	L>V		No	ClinGen Ensembl
CA391187330 rs1555415269	774	N>Y		No	ClinGen gnomAD
CA7389252 rs782254328	775	T>K		No	ClinGen ExAC TOPMed gnomAD
rs782254328 CA391187393	775	T>M		No	ClinGen ExAC TOPMed gnomAD
CA391187390 rs782254328	775	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1555415274 CA391187592	780	F>L		No	ClinGen gnomAD
rs146590511 CA7389255	781	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA391187610 rs1595193008	781	R>W		No	ClinGen Ensembl
CA7389256 rs782710750	782	S>Y		No	ClinGen ExAC gnomAD
CA391187911 rs1273415353	790	S>G		No	ClinGen TOPMed
CA391187956 rs1555415282	791	S>I		No	ClinGen gnomAD
rs782086378 CA391187971	791	S>R		No	ClinGen ExAC TOPMed gnomAD
CA391187988 rs782776841	792	G>C		No	ClinGen ExAC TOPMed gnomAD
rs782776841 CA7389259	792	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1555415288 CA391187998	792	G>V		No	ClinGen gnomAD
rs782549623 CA7389261	793	E>D		No	ClinGen ExAC TOPMed gnomAD
CA391188008 rs1555415290	793	E>K		No	ClinGen gnomAD
rs1323897518 CA391188058	794	A>V		No	ClinGen TOPMed
rs781798642 CA7389263	795	A>E		No	ClinGen ExAC gnomAD
rs1440257849 CA391188067	795	A>S		No	ClinGen TOPMed
rs1555415301 CA391188676	796	A>V		No	ClinGen gnomAD
CA7389265 rs782617721	797	T>A		No	ClinGen ExAC gnomAD
CA7389266 rs782208120	797	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1555415315 CA391188735	801	S>T		No	ClinGen gnomAD
rs782689380 CA7389271	803	T>I		No	ClinGen ExAC gnomAD
CA7389275 rs782227157	804	V>A		No	ClinGen ExAC gnomAD
CA7389274 rs781922659	804	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1001663611 CA266584006	809	K>N		No	ClinGen Ensembl
rs1034763532 CA266584022	813	V>M		No	ClinGen Ensembl
CA266584484 rs369856943	814	M>I		No	ClinGen ESP
rs781827237 CA7389308	814	M>L		No	ClinGen ExAC gnomAD
TCGA novel	818	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs587742490 CA391189222	820	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA391189218 rs1555415498	820	A>S		No	ClinGen gnomAD
CA7389310 rs587742490	820	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	823	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391189303 rs141292203	824	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7389313 rs782583159	825	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782583159 CA391189306	825	V>M		No	ClinGen ExAC TOPMed gnomAD
CA391189332 rs1222535909	826	E>D		No	ClinGen TOPMed
rs782178821 CA7389314	826	E>K		No	ClinGen ExAC gnomAD
CA391189434 rs782356019	831	C>R		No	ClinGen ExAC gnomAD
rs782356019 CA7389315	831	C>S		No	ClinGen ExAC gnomAD
rs1555415506 CA391189436	831	C>Y		No	ClinGen gnomAD
rs1453563755 CA391189468	832	I>T		No	ClinGen TOPMed
rs202040880 CA266584556	834	G>V		No	ClinGen Ensembl
CA7389316 rs782592694	836	S>G		No	ClinGen ExAC gnomAD
CA391189648 rs1282521513	837	R>Q		No	ClinGen TOPMed gnomAD
CA7389318 rs587749973	841	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7389319 rs782020458	842	A>S		No	ClinGen ExAC gnomAD
rs1555415524 CA391189818	842	A>V		No	ClinGen gnomAD
rs1204919222 CA391189857	844	Q>R		No	ClinGen TOPMed
rs782072848 CA7389320	850	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782072848 CA391190019	850	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1555415531 CA391190018	850	R>W		No	ClinGen gnomAD
TCGA novel	851	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7389352 rs200116250	853	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	854	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391190456 rs1555415993	855	G>S		No	ClinGen gnomAD
CA266585173 rs782784325	856	V>M		No	ClinGen TOPMed
CA7389355 rs781798535	857	E>K		No	ClinGen ExAC gnomAD
rs1595201350 CA391190526	858	C>G		No	ClinGen Ensembl
CA7389357 rs782503189	859	S>R		No	ClinGen ExAC TOPMed gnomAD
rs782258879 CA7389358	860	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391190626 rs1254094658	861	V>I		No	ClinGen TOPMed
rs782685668 CA7389360	862	K>R		No	ClinGen ExAC gnomAD
CA7389362 rs782323038	867	A>T		No	ClinGen ExAC gnomAD
CA7389364 rs367840030	868	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317634807 CA391190815	868	A>V		No	ClinGen TOPMed gnomAD
rs374638981 CA266585192	872	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA7389368 rs782808082	874	V>L		No	ClinGen ExAC gnomAD
rs782808082 CA391190920	874	V>M		No	ClinGen ExAC gnomAD
CA7389369 rs781943127	876	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs782745738 CA7389371	877	F>L		No	ClinGen ExAC gnomAD
rs782057690 CA7389370	877	F>L		No	ClinGen ExAC gnomAD
CA391191044 rs1555416018	879	I>V		No	ClinGen gnomAD
CA7389373 rs138788243	881	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149437508 CA391191140	882	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1368699 RCV000995267 CA7389375 rs368316410 CA7389376	883	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD ClinVar dbSNP
CA391191193 rs1555416036	884	H>Q		No	ClinGen gnomAD
CA7389377 rs782581214	884	H>R		No	ClinGen ExAC TOPMed gnomAD
rs991387503 CA266585200	884	H>Y		No	ClinGen TOPMed gnomAD
rs1445278464 CA391191231	886	K>E		No	ClinGen TOPMed gnomAD
CA7389378 rs143800881	887	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7389379 rs143800881	887	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7389380 rs782587138	887	A>V		No	ClinGen ExAC gnomAD
CA391191283 CA391191290 rs1197920027	889	F>L		No	ClinGen TOPMed gnomAD
CA391191295 rs1555416057	890	F>Q		No	ClinGen gnomAD

1 associated diseases with Q86VP3

[MIM: 618067]: Developmental and epileptic encephalopathy 66 (DEE66)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. {ECO:0000269|PubMed:29656858}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. {ECO:0000269|PubMed:29656858}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q86VP3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q86VP3

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name	Definition
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

6 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
endoplasmic reticulum calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within the endoplasmic reticulum of a cell or between the endoplasmic reticulum and its surroundings.
mitochondrion-endoplasmic reticulum membrane tethering	The attachment of a mitochondrion and an endoplasmic reticulum via molecular tethers that physically bridge their respective membranes and attach them to each other. The tethering may facilitate exchange of metabolites between the organelles.
protein localization to phagophore assembly site	Any process in which a protein is transported to, or maintained at, the phagophore assembly site (PAS).
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3V3Q7	Pacs2	Phosphofurin acidic cluster sorting protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAERGRLGLP	GAPGALNTPV	PMNLFATWEV	DGSSPSCVPR	LCSLTLKKLV	VFKELEKELI
70	80	90	100	110	120
SVVIAVKMQG	SKRILRSHEI	VLPPSGQVET	DLALTFSLQY	PHFLKREGNK	LQIMLQRRKR
130	140	150	160	170	180
YKNRTILGYK	TLAAGSISMA	EVMQHPSEGG	QVLSLCSSIK	EAPVKAAEIW	IASLSSQPID
190	200	210	220	230	240
HEDSTMQAGP	KAKSTDNYSE	EEYESFSSEQ	EASDDAVQGQ	DLDEDDFDVG	KPKKQRRSIV
250	260	270	280	290	300
RTTSMTRQQN	FKQKVVALLR	RFKVSDEVLD	SEQDPAEHIP	EAEEDLDLLY	DTLDMEHPSD
310	320	330	340	350	360
SGPDMEDDDS	VLSTPKPKLR	PYFEGLSHSS	SQTEIGSIHS	ARSHKEPPSP	ADVPEKTRSL
370	380	390	400	410	420
GGRQPSDSVS	DTVALGVPGP	REHPGQPEDS	PEAEASTLDV	FTERLPPSGR	ITKTESLVIP
430	440	450	460	470	480
STRSEGKQAG	RRGRSTSLKE	RQAARPQNER	ANSLDNERCP	DARSQLQIPR	KTVYDQLNHI
490	500	510	520	530	540
LISDDQLPEN	IILVNTSDWQ	GQFLSDVLQR	HTLPVVCTCS	PADVQAAFST	IVSRIQRYCN
550	560	570	580	590	600
CNSQPPTPVK	IAVAGAQHYL	SAILRLFVEQ	LSHKTPDWLG	YMRFLVIPLG	SHPVARYLGS
610	620	630	640	650	660
VDYRYNNFFQ	DLAWRDLFNK	LEAQSAVQDT	PDIVSRITQY	IAGANCAHQL	PIAEAMLTYK
670	680	690	700	710	720
QKSPDEESSQ	KFIPFVGVVK	VGIVEPSSAT	SGDSDDAAPS	GSGTLSSTPP	SASPAAKEAS
730	740	750	760	770	780
PTPPSSPSVS	GGLSSPSQGV	GAELMGLQVD	YWTAAQPADR	KRDAEKKDLP	VTKNTLKCTF
790	800	810	820	830	840
RSLQVSRLPS	SGEAAATPTM	SMTVVTKEKN	KKVMFLPKKA	KDKDVESKSQ	CIEGISRLIC
850	860	870	880
TARQQQNMLR	VLIDGVECSD	VKFFQLAAQW	SSHVKHFPIC	IFGHSKATF