AiPD: Autoinhibited Protein Database

P09619

Gene name	PDGFRB (PDGFR, PDGFR1)
Protein name	Platelet-derived growth factor receptor beta
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5159
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

PDGF receptor-β (PDGFRβ) is one of the members of the PDGF receptor family of RTKs. Members of the PDGF receptor family share strong sequence similarity throughout the juxtamembrane region, which contains two Tyr autophosphorylation sites in a YφY motif. Deletions and missense mutations in the juxtamembrane region of PDGF receptor family members would be predicted to disrupt the interactions that stabilize the autoinhibitory conformation of the juxtamembrane region. Also, the C-terminal tail of PDGFRβ is required to stabilize the inactive conformation in the absence of ligand.

Autoinhibitory domains (AIDs)

Target domain	600-962 (Protein kinase domain)
Relief mechanism	Ligand binding
Assay	Deletion assay, Mutagenesis experiment

AID

525-562 (Juxtamembrane region)

Target domain

600-962 (Protein kinase domain)

Relief mechanism

Ligand binding (PDGF binding)

Assay

Deletion assay, Mutagenesis experiment

Target domain	600-962 (Protein kinase domain)
Relief mechanism	Ligand binding
Assay	Deletion assay

AID

1059-1077 (C-terminal tail)

Target domain

600-962 (Protein kinase domain)

Relief mechanism

Ligand binding (PDGF binding)

Assay

Deletion assay

Accessory elements

843-868 (Activation loop from InterPro)

Target domain	600-962 (Protein kinase domain)
Relief mechanism
Assay

References

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Chiara F et al. (2004) "Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail", The Journal of biological chemistry, 279, 19732-8

Autoinhibited structure

Activated structure

9 structures for P09619

Entry ID	Method	Resolution	Chain	Position	Source
1GQ5	X-ray	220 A	A	1102-1106	PDB
1H9O	X-ray	179 A	B	751-755	PDB
1SHA	X-ray	150 A	B	751-755	PDB
2IUI	X-ray	240 A	C/D	748-758	PDB
2L6W	NMR	-	A/B	526-563	PDB
2PLD	NMR	-	B	1018-1029	PDB
2PLE	NMR	-	B	1018-1029	PDB
3MJG	X-ray	230 A	X/Y	33-314	PDB
AF-P09619-F1	Predicted				AlphaFoldDB

827 variants for P09619

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000246485 RCV000551181 rs17110944 VAR_034377 CA3508416	29	I>F	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000951783 RCV001579595 CA3508376 rs147303614 COSM327125	88	T>I	Acroosteolysis-keloid-like lesions-premature aging syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3508318 RCV001227662 rs371293050	126	G>D	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3508102 RCV000951793 rs200684708	370	R>C	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3508061 RCV000704920 rs374802057	406	Q>R	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200203294 RCV000878292 CA3508060	408	S>C	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001252927 rs202179598 CA3507995	460	E>K	Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001573918 COSM99099 RCV000538137 CA3507992 rs74943037	464	T>M	Acroosteolysis-keloid-like lesions-premature aging syndrome stomach [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_042028 rs41287110 CA3507973 RCV000547910	485	E>K	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000650691 CA3507970 rs540480924	491	V>A	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000526323 rs148974733 CA3507961	502	R>Q	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001249586 rs1760406652	507	R>LLSV	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
rs1760301176 RCV001810006 RCV001249591	537	A>D	Acroosteolysis-keloid-like lesions-premature aging syndrome Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
rs1760301005 RCV001249590	538	I>N	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000454368 rs1060499541	539	L>R	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000049264 CA328075 RCV000454370 VAR_069925 RCV000390507 rs367543286	561	R>C	Myofibromatosis, infantile, 1 IMF1 Infantile myofibromatosis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1760272027 RCV001249588	561	R>H	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
rs570202484 RCV001197899	562	Y>*	Basal ganglia calcification, idiopathic, 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001249589 rs1760271956	562	Y>D	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000454373 rs1060499543	566	W>L	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
rs1060499542 RCV000779640 RCV000497546 RCV001541889 CA16609705 RCV000454367 RCV000622279 RCV001257994	566	W>R	Myofibromatosis, infantile, 1 Dandy-Walker syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Inborn genetic diseases Infantile myofibromatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361766358 RCV000498591 rs1554108389	567	K>E	Myofibromatosis, infantile, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001249587 rs1760270922	573	S>ELIRWKVIESV	Infantile myofibromatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000200957 rs863224946 RCV001335958 CA279057 VAR_075865	584	P>R	KOGS Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Myeloproliferative disorder, chronic, with eosinophilia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_069320 rs397509381 RCV000032788 CA343798	658	L>P	IBGC4; no effect on protein abundance; loss of PDGF beta receptor activity Basal ganglia calcification, idiopathic, 4 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA143955 RCV000049265 VAR_069926 RCV001853035 rs144050370	660	P>T	Myofibromatosis, infantile, 1 Acroosteolysis-keloid-like lesions-premature aging syndrome IMF1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000585893 COSM3947135 rs1554108211 VAR_075866 CA361764564	665	V>A	lung Acroosteolysis-keloid-like lesions-premature aging syndrome PENTT; gain of function in protein tyrosine kinase activity; shows ligand-independent constitutive signaling [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA204694 rs797044887 RCV000190709	666	N>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs864309711 RCV000203292 CA339662 RCV000454371	666	N>K	Myofibromatosis, infantile, 1 Infantile myofibromatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000454372 rs864309711 CA16609702	666	N>K	Infantile myofibromatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA211315 RCV000128554 RCV001795218 rs138008832 RCV001560202	695	R>C	Basal ganglia calcification, idiopathic, 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142689325 RCV000949157 CA3507734	722	V>F	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1320275282 CA361761357 RCV000624900	788	R>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1760125256 RCV001199152	801	M>T	Basal ganglia calcification, idiopathic, 4 [ClinVar]	Yes	ClinVar dbSNP
rs1060499540 RCV000454369 CA16609704	850	D>V	Infantile myofibromatosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_069321 RCV000032789 CA343799 rs397509382	987	R>W	Basal ganglia calcification, idiopathic, 4 IBGC4; decreased protein abundance; no effect on receptor activity; decreased PDGF signaling pathway [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs75748462 CA3507462 RCV000964660	991	R>H	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3507432 RCV000525984 rs149417689	1040	G>V	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000626825 rs1554107047 RCV001198145 CA361752284	1081	E>K	Basal ganglia calcification, idiopathic, 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs267600485 CA3507356 RCV001891892	1098	R>W	Acroosteolysis-keloid-like lesions-premature aging syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA361731011 rs148272095	2	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508464 rs372399976	2	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3508465 rs148272095	2	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508463 rs757231368	3	L>F		No	ClinGen ExAC gnomAD
rs144923639 CA3508461	4	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144923639 CA3508462	4	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431198340 CA361730900	5	G>D		No	ClinGen gnomAD
rs766578665 CA3508458	6	A>T		No	ClinGen ExAC gnomAD
CA3508457 rs150173975 COSM1435169	6	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361730853 rs1432048735	7	M>R		No	ClinGen gnomAD
CA3508454 rs748711817	9	A>P		No	ClinGen ExAC gnomAD
rs576388049 CA3508453	10	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA129070836 rs199730626	11	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3508452 rs199730626	11	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA361730775 rs1465066628	11	A>V		No	ClinGen gnomAD
rs746497331 CA3508451	12	L>F		No	ClinGen ExAC gnomAD
CA361730774 rs746497331	12	L>I		No	ClinGen ExAC gnomAD
CA361729869 rs1252598875	14	G>V		No	ClinGen gnomAD
CA3508423 rs148853962	15	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508419 rs750698728	20	S>C		No	ClinGen ExAC gnomAD
CA3508420 rs758433037	20	S>P		No	ClinGen ExAC gnomAD
rs1238451735 CA361729746	22	L>R		No	ClinGen gnomAD
rs762297182 CA3508417	24	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1323456502 CA361729663	27	P>Q		No	ClinGen Ensembl
rs758514857 CA129070324	27	P>S		No	ClinGen gnomAD
CA129070320 rs561937933	30	S>C		No	ClinGen Ensembl
CA3508415 rs764493388	31	Q>K		No	ClinGen ExAC gnomAD
rs368010583 CA3508413	32	G>D		No	ClinGen ESP ExAC gnomAD
CA3508414 rs761286709	32	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3508411 rs568728923	35	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774107509 CA3508410	36	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1159899108 CA361729504	36	T>S		No	ClinGen gnomAD
rs748906060 CA3508409	37	P>A		No	ClinGen ExAC TOPMed gnomAD
rs748906060 CA3508408	37	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754766440 CA3508405	38	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3508406 rs754766440	38	P>R		No	ClinGen ExAC TOPMed gnomAD
rs750457698 CA3508403	39	G>R		No	ClinGen ExAC gnomAD
CA3508402 rs750457698	39	G>R		No	ClinGen ExAC gnomAD
CA361729443 rs1204706180	40	P>T		No	ClinGen gnomAD
CA129070275 rs1021692167	41	E>K		No	ClinGen TOPMed
CA3508401 rs778982886	43	V>A		No	ClinGen ExAC gnomAD
CA361729369 rs1239434481	44	L>F		No	ClinGen TOPMed
rs757431440 CA3508400	45	N>S		No	ClinGen ExAC gnomAD
rs1323411468 CA361729307	48	S>G		No	ClinGen TOPMed gnomAD
CA361729251 rs753583697	50	F>L		No	ClinGen ExAC gnomAD
rs904364986 CA129070263	51	V>A		No	ClinGen Ensembl
rs761086433 CA3508397	51	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361729247 rs761086433	51	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361729187 rs1331996642	54	C>F		No	ClinGen gnomAD
rs147952898 RCV000523080 CA3508396	55	S>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1386589670 CA361729168	56	G>C		No	ClinGen gnomAD
CA3508391 rs202213873	59	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3508392 rs202213873	59	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129070234 rs144954868	59	P>S		No	ClinGen ESP
rs1478236512 CA361729073	60	V>L		No	ClinGen gnomAD
CA361729063 rs1372232728	61	V>L		No	ClinGen gnomAD
CA361728996 rs1301329768	63	E>G		No	ClinGen Ensembl
rs1244128395 CA361728954	64	R>Q		No	ClinGen gnomAD
CA3508389 rs367993439	64	R>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA129070214 rs1041079383	65	M>I		No	ClinGen Ensembl
rs1277924406 CA361728895	66	S>F		No	ClinGen TOPMed
rs747916560 CA3508388	66	S>T		No	ClinGen ExAC gnomAD
rs776609724 CA3508387	67	Q>P		No	ClinGen ExAC gnomAD
rs766277403 CA3508386	68	E>D		No	ClinGen ExAC gnomAD
rs766277403 CA361728818	68	E>D		No	ClinGen ExAC gnomAD
CA3508385 rs746904891	70	P>R		No	ClinGen ExAC gnomAD
CA361728781 rs1404594782	71	Q>K		No	ClinGen Ensembl
rs778879949 CA3508384	71	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1230244085 CA361728677	73	M>V		No	ClinGen TOPMed
rs1346227937 CA361728563	76	A>T		No	ClinGen gnomAD
CA361728527 rs1269978839	77	Q>L		No	ClinGen TOPMed gnomAD
CA361728529 rs1269978839	77	Q>P		No	ClinGen TOPMed gnomAD
CA361728485 rs1436552710	78	D>V		No	ClinGen gnomAD
CA361728436 rs1224840287	79	G>A		No	ClinGen gnomAD
CA361728358 rs1580810983	81	F>L		No	ClinGen Ensembl
rs1297813606 CA361728329	82	S>C		No	ClinGen gnomAD
rs80162387 COSM205993 CA3508380	84	V>M	large_intestine urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1414956735 CA361728243	85	L>F		No	ClinGen gnomAD
CA3508377 rs373647341	86	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361728126 rs147303614	88	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765840983 CA361728094	90	L>F		No	ClinGen ExAC TOPMed gnomAD
CA361728089 rs1373590584	90	L>H		No	ClinGen TOPMed
rs765840983 CA3508375	90	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1170328754 CA361728067	91	T>A		No	ClinGen TOPMed
CA3508373 rs141870925	92	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764858656 CA3508372	93	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3508371 rs761665285	93	L>R		No	ClinGen ExAC gnomAD
CA361727984 rs1272810440	95	T>M		No	ClinGen gnomAD
rs368624710 CA129070129	99	F>C		No	ClinGen ESP
CA361727836 rs1297885582	99	F>L		No	ClinGen gnomAD
CA3508369 rs768446566	99	F>V		No	ClinGen ExAC gnomAD
CA361727810 rs1359022202	101	T>A		No	ClinGen TOPMed
rs920094513 CA129070120	101	T>N		No	ClinGen Ensembl
rs755989080 CA3508367	102	H>L		No	ClinGen ExAC gnomAD
CA129070114 rs755989080	102	H>P		No	ClinGen ExAC gnomAD
CA3508368 rs755989080	102	H>R		No	ClinGen ExAC gnomAD
CA3508366 rs770961190	103	N>S		No	ClinGen ExAC TOPMed gnomAD
CA129070105 rs750450343	105	S>F		No	ClinGen Ensembl
CA361727714 rs1562012484	105	S>P		No	ClinGen Ensembl
CA3508363 rs756405938	106	R>C		No	ClinGen ExAC gnomAD
rs544478083 CA3508362	106	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361727678 rs544478083	106	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756405938 CA3508364	106	R>S		No	ClinGen ExAC gnomAD
rs1305691568 CA361727649	107	G>V		No	ClinGen TOPMed
rs374401315 CA361727553	111	D>E		No	ClinGen ESP ExAC gnomAD
rs144757799 CA3508358	111	D>G		No	ClinGen ESP ExAC gnomAD
rs558122968 CA3508359	111	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3508356 rs749932332	112	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764662524 CA3508355	113	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs968860845 CA129070079	113	R>W		No	ClinGen TOPMed gnomAD
rs761474960 CA129070073	114	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3508352 rs763833875	115	R>Q		No	ClinGen ExAC gnomAD
rs776224834 CA3508353	115	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361727353 rs1275782243	118	I>V		No	ClinGen gnomAD
rs1221364318 CA361727243	120	V>L		No	ClinGen gnomAD
CA129070062 rs868635227	121	P>S		No	ClinGen Ensembl
rs1410359446 CA361726942	123	P>L		No	ClinGen gnomAD
rs772384541 CA3508323	123	P>S		No	ClinGen ExAC gnomAD
rs746412703 CA3508322	124	T>A		No	ClinGen ExAC TOPMed gnomAD
rs540587683 CA3508320	125	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540587683 CA3508319	125	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3508317 rs371293050	126	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361726808 rs1562011365	130	N>S		No	ClinGen Ensembl
rs767379166 CA3508315	131	D>G		No	ClinGen ExAC
rs1361500940 CA361726709	135	L>R		No	ClinGen gnomAD
CA129069618 rs986894602	137	I>L		No	ClinGen Ensembl
CA361726570 rs1437407455	140	T>A		No	ClinGen gnomAD
CA3508311 rs138830253	140	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361726447 rs1361327537	144	E>D		No	ClinGen gnomAD
CA361726413 rs1562011230	145	I>M		No	ClinGen Ensembl
CA129069558 rs199522807	150	R>*		No	ClinGen Ensembl
rs760987130 CA3508308	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775542260 CA3508307	151	V>I		No	ClinGen ExAC gnomAD
CA3508304 rs774900944	154	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3508305 rs746218367 COSM1064301	154	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs950743987 CA129069542	155	Q>H		No	ClinGen TOPMed gnomAD
CA361726088 rs1399184006	156	L>M		No	ClinGen TOPMed gnomAD
CA3508300 rs755541652	159	T>S		No	ClinGen ExAC gnomAD
rs747877386 CA3508299	160	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361725947 rs1562011077	162	E>K		No	ClinGen Ensembl
rs751395575 CA3508296	164	K>N		No	ClinGen ExAC gnomAD
rs144857517 CA3508293	167	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs868456400 CA129069437	170	P>A		No	ClinGen Ensembl
CA361725600 rs1170155189	172	P>L		No	ClinGen gnomAD
CA129069433 rs1002607440	175	H>Q		No	ClinGen Ensembl
rs1429997118 CA361725532	175	H>R		No	ClinGen gnomAD
rs142683442 CA3508290	177	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508289 rs759684681	177	R>H		No	ClinGen ExAC gnomAD
CA3508288 rs759684681	177	R>L		No	ClinGen ExAC gnomAD
rs17853027 CA361725368	180	S>C		No	ClinGen gnomAD
rs17853027 VAR_035125 CA129069413	180	S>F		No	ClinGen UniProt dbSNP gnomAD
CA3508286 rs771234317	181	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361725362 rs574853772	181	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3508287 rs574853772	181	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749830302 CA3508285	189	I>T		No	ClinGen ExAC gnomAD
CA361725130 rs1207642277	190	C>Y		No	ClinGen gnomAD
rs773564134 CA3508284	192	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3508282 rs747602665	193	T>A		No	ClinGen ExAC gnomAD
CA3508281 rs781058044	193	T>I		No	ClinGen ExAC gnomAD
CA3508279 rs2229560	194	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3508280 rs754682330	194	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758095904 CA3508277	196	D>E		No	ClinGen ExAC gnomAD
CA3508278 rs145459651	196	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA361724951 rs1364595043	197	R>G		No	ClinGen gnomAD
rs116642123 CA3508276	197	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361724913 rs1330417953	198	E>K		No	ClinGen TOPMed
rs765070977 CA3508275	205	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA129069382 rs942644172	206	V>I		No	ClinGen Ensembl
rs1253754606 CA361724676	207	Y>C		No	ClinGen gnomAD
rs374440746 CA3508273	208	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508272 rs767523277	209	L>H		No	ClinGen ExAC gnomAD
CA361723165 rs1366664975	216	V>A		No	ClinGen TOPMed
CA3508244 rs370817438	216	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361723172 rs370817438	216	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508243 rs368231732	217	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs552941597 CA3508241	220	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3508240 rs770718375	221	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361723038 rs770718375	221	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749262788 CA3508239	226	R>L		No	ClinGen ExAC gnomAD
rs1451340800 CA361722821	227	Q>K		No	ClinGen TOPMed
rs1189852609 CA361722812	227	Q>R		No	ClinGen gnomAD
rs374239531 CA129068949	228	G>A		No	ClinGen ESP TOPMed
CA236241 rs374239531 RCV000171387	228	G>D		No	ClinGen ClinVar ESP TOPMed dbSNP
CA3508237 rs755109587	234	M>V		No	ClinGen ExAC TOPMed gnomAD
CA361722581 rs1273486607	236	I>V		No	ClinGen gnomAD
CA361722489 rs1465364786	239	G>R		No	ClinGen TOPMed
rs527248801 CA129068928	244	N>D		No	ClinGen Ensembl
CA361722271 rs750613456	244	N>K		No	ClinGen ExAC gnomAD
rs1580809217 CA361722185	246	E>G		No	ClinGen Ensembl
CA361722151 rs1338652552	247	W>*		No	ClinGen gnomAD
rs757668250 CA3508231	251	R>C		No	ClinGen ExAC TOPMed
COSM1754128 rs754451292 CA3508230	251	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1351556504 CA361721804	256	R>Q		No	ClinGen TOPMed
RCV000523885 rs147568171 CA3508193	256	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA361721791 rs1580809018	258	V>G		No	ClinGen Ensembl
rs756516035 CA3508192	258	V>M		No	ClinGen ExAC gnomAD
rs753192549 CA3508191	260	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1580809007 CA361721772	261	V>G		No	ClinGen Ensembl
rs202093144 CA129068646	262	T>S		No	ClinGen Ensembl
CA361721717 rs1358495175	266	L>F		No	ClinGen TOPMed
CA3508188 rs751085975	267	D>G		No	ClinGen ExAC gnomAD
rs754514493 CA3508189	267	D>N		No	ClinGen ExAC gnomAD
CA361721706 rs751085975	267	D>V		No	ClinGen ExAC gnomAD
CA361721713 rs754514493	267	D>Y		No	ClinGen ExAC gnomAD
rs894979868 CA129068626	271	H>Y		No	ClinGen gnomAD
rs765818881 CA3508187	272	I>L		No	ClinGen ExAC TOPMed gnomAD
rs373131428 CA3508186	273	R>C		No	ClinGen ESP ExAC gnomAD
rs1190335517 CA361721628	273	R>H		No	ClinGen TOPMed gnomAD
rs1476817374 CA361721616	274	S>C		No	ClinGen gnomAD
rs750040840 CA3508185	276	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1206963952 CA361721588	277	H>Y		No	ClinGen TOPMed
rs369581401 CA3508184	278	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361721559 rs1483264770	279	P>R		No	ClinGen TOPMed
rs761649485 CA3508183	280	S>R		No	ClinGen ExAC TOPMed gnomAD
CA129068581 rs1055613497	281	A>T		No	ClinGen Ensembl
rs776497082 CA3508182	281	A>V		No	ClinGen ExAC gnomAD
CA3508179 rs774591563	282	E>D		No	ClinGen ExAC gnomAD
CA3508180 rs34586048 VAR_042027	282	E>K		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs771094828 CA3508178	284	E>K		No	ClinGen ExAC gnomAD
CA3508177 rs749560540	286	S>L		No	ClinGen ExAC TOPMed gnomAD
CA129068528 rs977354055	288	T>A		No	ClinGen TOPMed gnomAD
CA3508175 rs770112868	288	T>S		No	ClinGen ExAC gnomAD
CA3508171 rs147707126	290	T>I		No	ClinGen ESP ExAC gnomAD
CA3508172 rs147707126	290	T>S		No	ClinGen ESP ExAC gnomAD
rs1175765188 CA361721343	292	N>S		No	ClinGen TOPMed gnomAD
CA361721310 rs61732347	294	T>A		No	ClinGen gnomAD
CA3508170 rs374864774	294	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA129068502 rs61732347	294	T>P		No	ClinGen gnomAD
rs764858967 CA3508167	296	S>C		No	ClinGen ExAC TOPMed gnomAD
rs753677621 CA3508165	296	S>R		No	ClinGen ExAC gnomAD
CA361721186 rs1465274173	299	D>E		No	ClinGen TOPMed gnomAD
CA361721167 rs546647851	300	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546647851 CA3508164	300	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361721089 rs1202005152	303	E>A		No	ClinGen gnomAD
rs760689123 CA3508163	304	K>R		No	ClinGen ExAC TOPMed gnomAD
CA129068489 rs745687156	305	A>V		No	ClinGen Ensembl
CA3508162 rs775536586	307	N>T		No	ClinGen ExAC gnomAD
CA361721008 rs1275640834	308	I>V		No	ClinGen TOPMed
CA361720967 rs1364630262	310	V>M		No	ClinGen TOPMed gnomAD
CA129068477 rs915463868	311	V>I		No	ClinGen TOPMed
rs1580808180 CA361720744	313	S>G		No	ClinGen Ensembl
CA361720735 rs1162681591	313	S>N		No	ClinGen TOPMed gnomAD
rs1009638728 CA129067942	314	G>C		No	ClinGen gnomAD
rs1009638728 CA129067949	314	G>S		No	ClinGen gnomAD
rs201765870 CA3508145	316	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA361720678 rs41287112	316	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41287112 RCV000335817 CA3508146 RCV000514246	316	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1443597666 CA361720657	317	R>Q		No	ClinGen gnomAD
CA3508144 rs759481106	317	R>W		No	ClinGen ExAC TOPMed gnomAD
CA129067925 rs773441060	321	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361720546 rs1580808135	322	V>G		No	ClinGen Ensembl
CA3508140 rs374208706	323	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs765183053 CA3508141	323	G>S		No	ClinGen ExAC gnomAD
CA3508139 rs372924064	324	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294402409 CA361720487	325	L>R		No	ClinGen TOPMed gnomAD
rs369442822 CA3508138	328	A>V		No	ClinGen ESP ExAC gnomAD
rs1391612009 CA361720378	330	L>P		No	ClinGen gnomAD
CA3508136 rs776046151	332	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1291265658 CA361720336	332	R>W		No	ClinGen gnomAD
rs1395162931 CA361720319	333	S>N		No	ClinGen gnomAD
CA3508134 rs375079353	334	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375079353 CA3508133	334	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1696561 CA3508135 rs150846835	334	R>W	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371519105 CA129067893	335	T>A		No	ClinGen Ensembl
CA3508130 rs777277212	337	Q>R		No	ClinGen ExAC gnomAD
rs1275407530 CA361720227	338	V>I		No	ClinGen TOPMed gnomAD
CA361720190 rs775533791	340	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361720183 rs942220808 COSM1634064	341	E>K	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA129067862 rs942220808	341	E>Q		No	ClinGen TOPMed gnomAD
rs767364248 CA3508127	344	P>A		No	ClinGen ExAC gnomAD
rs201250234 CA3508125	345	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361720084 rs201250234	345	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs2229558 CA3508126 RCV000420025 VAR_049717	345	P>S		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761780839 CA3508123	347	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1020494503 CA129067826	348	V>D		No	ClinGen TOPMed
CA361720044 rs1371019308	348	V>F		No	ClinGen gnomAD
CA3508122 rs368862822	349	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508121 rs764220634	350	W>L		No	ClinGen ExAC gnomAD
rs760825537 CA3508120	351	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1465327575 CA361719936	353	D>H		No	ClinGen gnomAD
rs1473502268 CA361719890	354	N>K		No	ClinGen TOPMed
rs140008145 CA3508118	355	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508117 rs746410632	355	R>H		No	ClinGen ExAC gnomAD
rs774697563 CA3508116	356	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774697563 CA361719865	356	T>S		No	ClinGen ExAC TOPMed gnomAD
rs976884121 CA129067814	358	G>D		No	ClinGen TOPMed
rs375484098 CA3508114	359	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375484098 CA3508113	359	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463915643 CA361719759	360	S>C		No	ClinGen gnomAD
CA3508111 rs747756021 COSM3768240	362	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754790326 CA3508109	364	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM205991 rs368602685 CA3508107	366	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA129067771 rs375343084	369	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375343084 CA3508105	369	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361719545 rs1399784936	370	R>H		No	ClinGen TOPMed gnomAD
CA361719542 rs1399784936	370	R>L		No	ClinGen TOPMed gnomAD
rs200684708 CA3508103	370	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3508100 rs371975483	372	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508099 rs769483792	373	S>L		No	ClinGen ExAC TOPMed gnomAD
CA361719478 rs769483792	373	S>W		No	ClinGen ExAC TOPMed gnomAD
CA361719419 rs1244335026	375	T>I		No	ClinGen gnomAD
rs1442264858 CA361719401	376	R>Q		No	ClinGen gnomAD
CA3508094 rs142621427	376	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768431684 CA3508073	382	T>I		No	ClinGen ExAC gnomAD
CA361718466 rs1167658274	385	R>C		No	ClinGen gnomAD
CA3508070 rs375122221	385	R>H		No	ClinGen ESP ExAC gnomAD
rs375122221 CA361718464	385	R>P		No	ClinGen ESP ExAC gnomAD
CA129067229 rs541469612	386	V>L		No	ClinGen TOPMed gnomAD
rs541469612 CA361718455	386	V>M		No	ClinGen TOPMed gnomAD
rs778805941 CA3508068	387	K>N		No	ClinGen ExAC gnomAD
CA361718422 rs1270152563	387	K>R		No	ClinGen TOPMed
CA361718387 rs756251957	389	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3508067 rs756251957	389	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361718310 rs1449303846	393	H>R		No	ClinGen gnomAD
CA361718267 rs1580807082	395	T>A		No	ClinGen Ensembl
CA3508065 rs781190777	395	T>I		No	ClinGen ExAC gnomAD
rs751766664 CA3508063	397	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3508064 rs377445092	397	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361718211 rs1201443547	398	A>T		No	ClinGen TOPMed
rs766693794 CA3508062	399	F>C		No	ClinGen ExAC gnomAD
rs1375825791 CA361718062	399	F>L		No	ClinGen gnomAD
rs1269475186 CA361717888	404	E>G		No	ClinGen TOPMed
rs1580807040 CA361717851	405	V>G		No	ClinGen Ensembl
CA361717737 rs1462400450	410	Q>*		No	ClinGen gnomAD
COSM1064297 rs1282693161 CA361717333	418	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs371365227 CA3508033	418	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3508032 rs759129025	425	S>G		No	ClinGen ExAC TOPMed gnomAD
rs774153485 CA3508031	426	H>P		No	ClinGen ExAC gnomAD
CA3508030 rs199873101	427	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762918648 CA3508029	430	G>R		No	ClinGen ExAC gnomAD
rs773179772 CA3508028	433	T>R		No	ClinGen ExAC TOPMed gnomAD
CA129066321 rs1014568373	434	V>A		No	ClinGen TOPMed gnomAD
CA3508026 COSM94956 rs747109578	435	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA129066320 rs904740973	435	R>H		No	ClinGen gnomAD
rs772355478 CA3508024	437	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361716808 rs746042729	439	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746042729 CA3508023	439	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA129066312 rs1013933182	439	R>W		No	ClinGen TOPMed gnomAD
CA3508021 rs757670561	441	M>T		No	ClinGen ExAC gnomAD
rs1580805716 CA361716708	443	Q>P		No	ClinGen Ensembl
rs1211844128 CA361716691 RCV000658217	444	P>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA361716680 rs1480384731	444	P>L		No	ClinGen gnomAD
rs1211844128 CA361716686	444	P>S		No	ClinGen TOPMed gnomAD
CA129066303 rs778336670	446	I>F		No	ClinGen ExAC TOPMed gnomAD
CA361716648 rs1318048844	446	I>T		No	ClinGen TOPMed gnomAD
CA3508019 rs778336670	446	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3508018 rs756509220	447	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361716602 rs1312583190	449	S>F		No	ClinGen gnomAD
rs1231850359 CA361716600	450	A>T		No	ClinGen gnomAD
rs533669173 CA129066297	450	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs752263132 CA3508017	452	R>G		No	ClinGen ExAC gnomAD
CA3508015 rs759216802	454	L>F		No	ClinGen ExAC gnomAD
rs780793425 CA3507998	456	R>S		No	ClinGen ExAC gnomAD
CA361715592 rs1442967717	457	C>G		No	ClinGen gnomAD
CA361715553 rs1395004196	458	P>R		No	ClinGen gnomAD
rs571553115 CA3507997	459	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361715551 rs571553115	459	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149274963 CA3507996	459	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1240381266 CA361715510	460	E>A		No	ClinGen TOPMed
CA3507994 rs372793684	462	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361715423 rs74943037	464	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776406062 CA3507990	467	G>R		No	ClinGen ExAC TOPMed gnomAD
CA129065705 rs969186167	467	G>V		No	ClinGen Ensembl
rs759681074 CA3507988	469	S>N		No	ClinGen ExAC gnomAD
rs375139942 CA129065691	469	S>R		No	ClinGen ESP gnomAD
CA361715297 rs1450397504	470	S>C		No	ClinGen gnomAD
CA129065679 rs914677813	471	E>K		No	ClinGen gnomAD
CA129065678 rs371842708	472	E>V		No	ClinGen ESP gnomAD
CA361715221 rs1562002990	473	E>K		No	ClinGen Ensembl
rs778195829 CA3507985	476	L>M		No	ClinGen ExAC TOPMed gnomAD
rs773656622 CA3507984	477	E>D		No	ClinGen ExAC TOPMed gnomAD
CA129065674 rs1026256234	478	T>A		No	ClinGen Ensembl
CA361715085 rs1386853940	478	T>I		No	ClinGen TOPMed gnomAD
rs1386853940 CA361715088	478	T>S		No	ClinGen TOPMed gnomAD
rs371550567 CA3507983	479	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3507981 rs146931547	480	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146931547 CA3507980	480	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507977 rs758072563	481	T>M		No	ClinGen ExAC gnomAD
CA3507978 rs779484502	481	T>P		No	ClinGen ExAC gnomAD
CA3507975 rs765124485	484	E>K		No	ClinGen ExAC gnomAD
CA3507972 rs764129390	486	E>D		No	ClinGen ExAC TOPMed gnomAD
rs760629984 CA3507971	488	E>K		No	ClinGen ExAC gnomAD
rs1225116257 CA361714840	496	R>C		No	ClinGen gnomAD
rs773284031 CA3507967	496	R>H		No	ClinGen ExAC gnomAD
CA3507966 rs770252245	498	Q>*		No	ClinGen ExAC gnomAD
CA129065522 rs61747481	500	V>G		No	ClinGen Ensembl
CA3507964 rs776914915 COSM1435163	500	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361714790 rs1311234574	501	D>Y		No	ClinGen gnomAD
CA3507962 rs142992960	502	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367611195 CA3507958	505	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507955 rs79387608	506	V>A		No	ClinGen ExAC gnomAD
CA3507956 rs79387608	506	V>E		No	ClinGen ExAC gnomAD
CA129065441 rs79387608	506	V>G		No	ClinGen ExAC gnomAD
rs756150324 CA3507954	507	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145823245 CA3507953	507	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766614995 CA3507952	509	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1580804804 CA361714689	509	T>P		No	ClinGen Ensembl
rs765383598 CA3507949	511	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361714656 rs1232469262	511	R>H		No	ClinGen gnomAD
rs762039865 CA3507948	512	N>S		No	ClinGen ExAC TOPMed gnomAD
rs768971476 CA361714634	513	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3507946 rs768971476	513	A>T		No	ClinGen ExAC TOPMed gnomAD
CA129065377 rs912590640	516	Q>R		No	ClinGen Ensembl
rs1328302013 CA361714578	518	T>A		No	ClinGen gnomAD
rs753978428 CA3507944	518	T>M		No	ClinGen ExAC TOPMed gnomAD
CA361714515 rs1580804724	521	V>G		No	ClinGen Ensembl
CA3507939 rs374412074	523	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1580804703 CA361714475	524	V>G		No	ClinGen Ensembl
rs1180371553 CA361714435	526	H>Y		No	ClinGen gnomAD
rs1475343244 CA361714411	527	S>P		No	ClinGen gnomAD
CA361713610 rs1369433730	529	P>T		No	ClinGen gnomAD
CA361713594 rs1348611914	530	F>V		No	ClinGen gnomAD
CA361713562 rs1561998208	532	V>L		No	ClinGen Ensembl
rs1315828107 CA361713459	540	A>G		No	ClinGen gnomAD
rs1396830134 CA361713396	545	T>A		No	ClinGen gnomAD
COSM48648 rs1191693413 CA361713385	545	T>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3507911 rs373049018	546	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753022858 CA3507910	547	I>V		No	ClinGen ExAC gnomAD
CA3507908 rs576771944	552	L>F		No	ClinGen ExAC TOPMed gnomAD
CA361713305 rs576771944	552	L>I		No	ClinGen ExAC TOPMed gnomAD
CA129062363 rs201130170	553	I>F		No	ClinGen Ensembl
rs1210272407 CA361713280	554	M>V		No	ClinGen gnomAD
rs1306356528 CA361713254	555	L>P		No	ClinGen gnomAD
CA3507907 rs774899102	555	L>V		No	ClinGen ExAC gnomAD
CA361713208 rs1220282832	558	K>E		No	ClinGen gnomAD
rs1356869976 CA361766411	559	K>E		No	ClinGen gnomAD
CA361766397 rs1375143929	561	R>H		No	ClinGen TOPMed
CA361766386 rs1483057981	563	E>K		No	ClinGen TOPMed gnomAD
rs1460983846 CA361766370	565	R>*		No	ClinGen gnomAD
rs140081345 CA3507889	565	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376202121 CA3507885	580	I>V		No	ClinGen ESP ExAC gnomAD
rs1296812685 CA361766123	582	V>M		No	ClinGen TOPMed
CA3507883 rs768416368	585	M>I		No	ClinGen ExAC gnomAD
rs1258478109 CA361766070	585	M>T		No	ClinGen gnomAD
rs1339375799 CA361766038	586	Q>H		No	ClinGen TOPMed
rs1231735690 CA361766018	588	P>S		No	ClinGen gnomAD
rs1323185629 CA361765992	590	D>N		No	ClinGen gnomAD
CA3507881 rs771835513	592	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3507880 rs771835513	592	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1231790209 CA361765923	593	W>*		No	ClinGen gnomAD
CA3507877 rs770027941	593	W>R		No	ClinGen ExAC gnomAD
CA3507876 rs748119964	596	P>L		No	ClinGen ExAC gnomAD
rs1222946958 COSM317860 CA361765862	597	R>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1370532697 CA361765853	598	D>N		No	ClinGen gnomAD
CA361765818 rs1299853847	599	Q>H		No	ClinGen gnomAD
CA361765770 rs1462762018	603	G>R		No	ClinGen gnomAD
COSM1319238 CA3507844 rs541926152	604	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs541926152 CA361765754	604	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752228799 CA3507843	604	R>H		No	ClinGen ExAC gnomAD
rs767386222 CA361765746	605	T>I		No	ClinGen ExAC gnomAD
rs767386222 CA3507842	605	T>N		No	ClinGen ExAC gnomAD
rs1420457092 CA361765730	608	S>Y		No	ClinGen gnomAD
rs762706138 CA3507838	613	Q>R		No	ClinGen ExAC gnomAD
rs1378675204 CA361765637	618	T>A		No	ClinGen gnomAD
CA3507835 COSM1287051 rs139554380	618	T>M	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3507836 rs139554380	618	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361765618 rs1220258280	619	A>V		No	ClinGen TOPMed
CA361765611 COSM3827402 rs1244596547	620	H>Y	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA361765596 rs1580799957	621	G>C		No	ClinGen Ensembl
CA3507830 rs779617771	627	A>T		No	ClinGen ExAC gnomAD
rs1201625387 CA361765497	627	A>V		No	ClinGen gnomAD
rs1250625415 CA361765483	628	T>M		No	ClinGen TOPMed gnomAD
CA361765469 rs1342136227	629	M>R		No	ClinGen gnomAD
CA361765420 rs1280379086	632	A>V		No	ClinGen gnomAD
CA361765407 rs1580799905	633	V>G		No	ClinGen Ensembl
rs780819031 COSM1435159 CA3507826	633	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756569804 CA3507808	638	S>C		No	ClinGen ExAC gnomAD
rs201183721 CA3507806	641	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56339845 CA3507805	641	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1231480262 CA361765131	642	S>G		No	ClinGen TOPMed
rs1561994818 CA361765118	642	S>R		No	ClinGen Ensembl
rs1472863128 CA361765078	644	E>K		No	ClinGen gnomAD
CA361765029 rs1362685432	645	K>R		No	ClinGen gnomAD
rs766289548 CA3507803	647	A>T		No	ClinGen ExAC gnomAD
CA129101747 rs758280032	650	S>*		No	ClinGen ExAC gnomAD
CA3507802 COSM2151585 rs758280032	650	S>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs148655406 CA3507799	653	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357207675 CA361764790	655	M>L		No	ClinGen TOPMed gnomAD
CA361764787 rs1357207675	655	M>V		No	ClinGen TOPMed gnomAD
rs1279062746 CA361764758	656	S>G		No	ClinGen gnomAD
CA361764753 rs1238005056	656	S>N		No	ClinGen gnomAD
CA3507797 rs767886107	658	L>F		No	ClinGen ExAC gnomAD
CA3507794 rs763366149	662	L>V		No	ClinGen ExAC gnomAD
rs770122404 CA3507792	664	V>L		No	ClinGen ExAC TOPMed gnomAD
CA129101685 rs770122404	664	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770122404 CA361764593	664	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768318526 CA3507789	668	L>M		No	ClinGen ExAC gnomAD
CA361764424 rs1248220427	672	T>I		No	ClinGen gnomAD
CA361764414 rs1221972730	673	K>R		No	ClinGen gnomAD
CA361764401 rs1389426768	674	G>E		No	ClinGen TOPMed
rs779431081 CA3507787	674	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM1328978 rs1176688330 CA361763123	675	G>E	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1283745894 CA361764392	675	G>R		No	ClinGen gnomAD
CA361763100 rs1409226944	678	Y>*		No	ClinGen gnomAD
CA361763068 rs1580798393	683	Y>S		No	ClinGen Ensembl
CA3507770 rs763239423	685	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3507769 rs200986052	685	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3507766 rs757278048	686	Y>C		No	ClinGen ExAC gnomAD
rs777708927 CA3507764	687	G>R		No	ClinGen ExAC gnomAD
CA361763044 rs777708927	687	G>R		No	ClinGen ExAC gnomAD
CA3507763 rs756032678	688	D>G		No	ClinGen ExAC gnomAD
rs1249635203 CA361763039	688	D>N		No	ClinGen gnomAD
rs766665377 CA3507761	691	D>N		No	ClinGen ExAC gnomAD
CA3507758 rs765673602	694	H>R		No	ClinGen ExAC gnomAD
CA3507759 rs750537901	694	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs375978065 CA3507756	695	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361762994 rs375978065	695	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507757 rs138008832	695	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212152922 CA361762970	698	H>Q		No	ClinGen gnomAD
CA361762969 rs1212152922	698	H>Q		No	ClinGen gnomAD
CA129101052 rs200834112	699	T>A		No	ClinGen 1000Genomes
CA361762964 rs1465893615	699	T>I		No	ClinGen gnomAD
CA3507752 rs745312913	702	Q>K		No	ClinGen ExAC gnomAD
CA129101049 rs112292721	705	S>P		No	ClinGen gnomAD
rs770635073 CA3507750	706	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749226501 COSM1435157 CA3507749	708	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3507748 rs200519248	708	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759436020 CA240504 RCV000174877	709	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3507746 COSM149996 rs554645092	710	P>L	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs765295196 CA3507743	711	P>L		No	ClinGen ExAC gnomAD
COSM327122 RCV000238828 CA3507742 rs371341863	713	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3507741 rs368867827	713	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA129100991 rs113395639	714	E>D		No	ClinGen Ensembl
rs1561992847 CA361762869	715	L>F		No	ClinGen Ensembl
rs760905425 CA3507739	717	S>N		No	ClinGen ExAC gnomAD
rs775940331 CA3507738	718	N>S		No	ClinGen ExAC gnomAD
rs35322465 VAR_042030 CA129100983	718	N>Y		No	ClinGen UniProt Ensembl dbSNP
rs1029788952 CA129100975	719	A>D		No	ClinGen Ensembl
rs142689325 CA3507735	722	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773244332 CA3507733	726	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361762797 rs1303620698	727	P>H		No	ClinGen TOPMed
CA361762792 rs1379063670	728	S>C		No	ClinGen gnomAD
CA129100532 rs958226923	729	H>L		No	ClinGen TOPMed
CA129100533 rs867787042	729	H>Y		No	ClinGen Ensembl
rs141793092 CA3507719	732	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3507715 rs772861468	734	G>E		No	ClinGen ExAC gnomAD
CA3507716 rs762504902	734	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1319346549 CA361762730	736	S>I		No	ClinGen TOPMed
rs776488990 CA3507712	736	S>R		No	ClinGen ExAC gnomAD
rs768472954 CA3507711	737	D>N		No	ClinGen ExAC TOPMed gnomAD
rs150474738 CA3507709	738	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171332049 CA361762696	741	M>T		No	ClinGen TOPMed gnomAD
CA3507707 rs749301959	741	M>V		No	ClinGen ExAC gnomAD
rs1467934103 CA361762678	743	M>I		No	ClinGen gnomAD
rs756210461 CA3507705	747	E>K		No	ClinGen ExAC gnomAD
CA3507704 rs537725629	748	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751996384 CA3507701	749	V>E		No	ClinGen ExAC gnomAD
rs755353819 CA3507702	749	V>M		No	ClinGen ExAC gnomAD
CA3507700 rs766073277	750	D>G		No	ClinGen ExAC gnomAD
CA3507699 rs762698498	751	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA129100461 rs939822838	755	L>Q		No	ClinGen TOPMed
CA129100444 rs922382503	757	M>R		No	ClinGen TOPMed
RCV000520916 rs933723345 CA129100450	757	M>V		No	ClinGen ClinVar TOPMed dbSNP
CA3507696 rs761275855	759	G>E		No	ClinGen ExAC gnomAD
rs1467726205 CA361762565	760	D>A		No	ClinGen TOPMed
rs1316309140 CA361762567	760	D>N		No	ClinGen gnomAD
rs747659448 COSM327117 CA3507694	761	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760410463 CA3507693	764	A>G		No	ClinGen ExAC gnomAD
CA3507691 rs771923448	767	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769886643 CA3507688	770	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3507687 rs200197608	773	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507686 rs200197608	773	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361762472 rs1481353826	774	P>S		No	ClinGen Ensembl
COSM3827401 rs751904503 CA3507684	776	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361761587 rs1424362830	778	Y>C		No	ClinGen gnomAD
CA361761567 rs1561991113	779	V>G		No	ClinGen Ensembl
rs758890727 CA3507682	779	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3507681 rs750066915	780	P>T		No	ClinGen ExAC gnomAD
rs1359322474 CA361761436	783	P>T		No	ClinGen gnomAD
rs759326287 CA3507655	786	T>A		No	ClinGen ExAC TOPMed gnomAD
rs759326287 CA361761389	786	T>P		No	ClinGen ExAC TOPMed gnomAD
CA3507654 rs774032065	788	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000949163 CA3507653 rs190620156	789	A>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA361761342 rs1476912372	789	A>V		No	ClinGen gnomAD
rs768833854 CA3507650	793	N>S		No	ClinGen ExAC gnomAD
CA3507648 rs765478860	794	E>K		No	ClinGen ExAC gnomAD
rs1285503815 CA361761255	795	S>F		No	ClinGen gnomAD
CA361761245 rs746183352	796	P>L		No	ClinGen ExAC gnomAD
CA3507646 rs746183352	796	P>R		No	ClinGen ExAC gnomAD
rs757702025 CA3507644	797	V>L		No	ClinGen ExAC gnomAD
rs1284973433 CA361761206	799	S>R		No	ClinGen TOPMed
rs748872294 CA3507643	801	M>I		No	ClinGen ExAC gnomAD
CA361761184 rs1339400864	801	M>V		No	ClinGen gnomAD
rs755585100 CA3507641	804	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3507640 rs554704450	810	V>A		No	ClinGen ExAC gnomAD
rs781051087 CA3507639	811	A>P		No	ClinGen ExAC gnomAD
rs781051087 CA129100010	811	A>S		No	ClinGen ExAC gnomAD
rs1480906257 CA361761004	813	G>D		No	ClinGen gnomAD
rs1262390516 CA361760990	814	M>T		No	ClinGen TOPMed
CA129099986 rs755218503	818	A>T		No	ClinGen Ensembl
CA361760889 rs78336563	821	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377442091 COSM1064294 CA3507618	823	V>I	endometrium stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753032652 CA3507614	832	V>M		No	ClinGen ExAC gnomAD
rs774685011 CA3507611	836	E>G		No	ClinGen ExAC gnomAD
rs1197406325 CA361760429	837	G>D		No	ClinGen TOPMed
CA129099878 rs200077894	840	V>I		No	ClinGen 1000Genomes
rs770212293 CA3507607	843	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1184721015 COSM75895 CA361760185	849	R>G	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs770930584 CA3507604	849	R>Q		No	ClinGen ExAC gnomAD
rs1060499540 CA361760167	850	D>G		No	ClinGen gnomAD
rs570277745 CA3507601	851	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA129099858 rs767453556	851	I>T		No	ClinGen Ensembl
CA3507603 rs746559329	851	I>V		No	ClinGen ExAC gnomAD
rs892547462 CA129099845	852	M>V		No	ClinGen Ensembl
CA361760078 rs1218819598	853	R>Q		No	ClinGen gnomAD
rs778844346 CA3507600 COSM3212060	853	R>W	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1292468244 CA361760032	855	S>L		No	ClinGen gnomAD
CA361760047 rs1360972085	855	S>T		No	ClinGen gnomAD
rs1168573597 CA361759994	857	Y>F		No	ClinGen TOPMed
rs1462633071 CA361759962	858	I>M		No	ClinGen TOPMed
rs750896639 CA3507573	863	T>N		No	ClinGen ExAC TOPMed gnomAD
CA361759617 rs1159721959	868	K>N		No	ClinGen TOPMed
rs777067417 CA3507570	874	S>N		No	ClinGen ExAC gnomAD
rs760367935 CA3507568	877	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3507569 rs78642472	877	N>T		No	ClinGen ExAC gnomAD
rs771679639 CA3507566	879	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1371954207 CA361759460	880	Y>C		No	ClinGen TOPMed
CA361759429 rs1333821635	882	T>S		No	ClinGen TOPMed
rs1301469558 CA361759386	886	V>M		No	ClinGen gnomAD
RCV000480759 CA3507541 rs200865355	902	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3507542 rs200865355	902	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs780199485 CA3507539	903	P>L		No	ClinGen ExAC gnomAD
rs913577228 CA129099253	905	P>A		No	ClinGen TOPMed gnomAD
CA361757884 rs1456958325	905	P>L		No	ClinGen TOPMed gnomAD
CA3507538 rs372042979	906	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778955311 CA3507536	911	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361757640 rs1436303129	914	Y>C		No	ClinGen gnomAD
CA3507534 rs754345719	915	N>S		No	ClinGen ExAC gnomAD
CA361757585 rs1488433691	917	I>V		No	ClinGen Ensembl
CA3507532 rs145717708	919	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1064290 CA3507533 rs550187329	919	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3507531 rs143067190	922	R>C		No	ClinGen ExAC gnomAD
CA129099238 rs143067190	922	R>G		No	ClinGen ExAC gnomAD
rs767216776 CA3507530 COSM215969	922	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1360746335 CA361757385 COSM1435155	928	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs759258072 CA3507529	931	D>N		No	ClinGen ExAC TOPMed gnomAD
CA129099216 rs921756253	932	E>K		No	ClinGen TOPMed gnomAD
CA3507508 rs751229604	937	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3507507 rs765981295	938	Q>K		No	ClinGen ExAC gnomAD
COSM1064288 CA3507506 rs757873895	940	C>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361756863 rs1206347379	942	E>Q		No	ClinGen TOPMed
rs1211499075 CA361756841	943	E>D		No	ClinGen TOPMed
CA361756852 rs1467703608	943	E>Q		No	ClinGen TOPMed
CA3507504 rs765151152	944	K>R		No	ClinGen ExAC gnomAD
rs761730723 CA3507503	946	E>D		No	ClinGen ExAC gnomAD
rs557197257 CA129098764	947	I>M		No	ClinGen Ensembl
rs1427389773 CA361756813	947	I>S		No	ClinGen gnomAD
CA3507502 rs776607612	948	R>Q		No	ClinGen ExAC gnomAD
rs1214250173 CA361756795	950	P>L		No	ClinGen gnomAD
rs1214250173 CA361756796	950	P>R		No	ClinGen gnomAD
CA361756800 rs1263157409	950	P>S		No	ClinGen gnomAD
CA3507499 rs376007701	952	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376007701 CA3507500	952	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771073581 CA3507498	955	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361756751 rs1321037719	958	L>F		No	ClinGen gnomAD
CA361756752 rs1321037719	958	L>V		No	ClinGen gnomAD
CA3507495 rs769978493	959	E>K		No	ClinGen ExAC gnomAD
rs748647567 CA361756737	960	R>I		No	ClinGen ExAC gnomAD
CA3507494 rs748647567	960	R>K		No	ClinGen ExAC gnomAD
rs781775442 CA3507493	960	R>S		No	ClinGen ExAC gnomAD
rs1432844976 CA361756719	963	G>D		No	ClinGen gnomAD
rs747398617 CA3507491	964	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361756696 rs1382377030	967	K>Q		No	ClinGen Ensembl
rs150600919 CA3507474	970	Y>C		No	ClinGen ESP ExAC gnomAD
CA361756631 rs1411722144	972	Q>K		No	ClinGen TOPMed gnomAD
CA3507472 rs745486517	974	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3507471 rs745486517	974	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361756585 rs1163477683	974	D>V		No	ClinGen TOPMed gnomAD
rs1245387231 CA361756569	975	E>G		No	ClinGen gnomAD
rs1041732677 CA129098362	976	E>V		No	ClinGen Ensembl
rs778666177 CA3507470	979	R>K		No	ClinGen ExAC gnomAD
CA361756506 rs1561984983	980	S>N		No	ClinGen Ensembl
CA10585986 RCV000239016 rs879255377	980	S>R		No	ClinGen ClinVar Ensembl dbSNP
CA361756476 rs1439841248	982	H>Y		No	ClinGen TOPMed
rs756715680 CA3507469	983	P>L		No	ClinGen ExAC gnomAD
rs1206090587 CA361755938	984	A>V		No	ClinGen gnomAD
rs753367645 CA3507468	985	I>T		No	ClinGen ExAC gnomAD
rs35731372 CA361755911	987	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507467 rs35731372	987	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332695360 CA361755889	989	Q>K		No	ClinGen TOPMed
CA3507466 rs752739088	990	A>D		No	ClinGen ExAC gnomAD
CA361755872 rs1361458551	990	A>T		No	ClinGen gnomAD
CA3507464 rs140261309	991	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75748462 CA3507463	991	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162964047 CA361755817	993	P>S		No	ClinGen gnomAD
CA361755767 rs1356340101	995	F>S		No	ClinGen Ensembl
CA361755749 rs1186041786	996	H>R		No	ClinGen gnomAD
CA3507458 rs761069531	997	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1561984776 CA361755700	999	R>*		No	ClinGen Ensembl
CA129098321 rs987244289	999	R>Q		No	ClinGen Ensembl
CA3507456 rs772291902	1000	S>F		No	ClinGen ExAC gnomAD
CA3507454 rs778379116	1002	L>R		No	ClinGen ExAC gnomAD
rs770576414 CA3507453	1004	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1267599058 CA361755550	1005	S>R		No	ClinGen gnomAD
rs749008500 CA3507452	1006	S>A		No	ClinGen ExAC gnomAD
COSM1696559 rs1490825378 CA361755527	1006	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749008500 CA361755543	1006	S>T		No	ClinGen ExAC gnomAD
rs1314883519 CA361755503	1007	V>D		No	ClinGen gnomAD
rs142762235 CA3507450	1007	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129098286 rs948119310	1008	L>P		No	ClinGen TOPMed gnomAD
CA3507448 rs148183775	1009	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507447 rs754683673	1010	T>A		No	ClinGen ExAC gnomAD
rs757545741 COSM1542711 CA361755399	1012	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1435153 CA3507444 rs757545741	1012	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361755350 rs1453560666	1014	P>T		No	ClinGen gnomAD
rs1161686582 CA361755299	1015	N>D		No	ClinGen gnomAD
CA361755303 rs1161686582	1015	N>H		No	ClinGen gnomAD
CA3507442 rs764243842	1015	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3507443 rs764243842	1015	N>S		No	ClinGen ExAC TOPMed gnomAD
rs201061735 CA129098268	1016	E>K		No	ClinGen 1000Genomes
CA361755256 rs1428098106	1017	G>C		No	ClinGen gnomAD
CA361755254 rs1428098106	1017	G>S		No	ClinGen gnomAD
rs1196732733 CA361755226	1017	G>V		No	ClinGen gnomAD
rs1269577031 CA361755206	1018	D>G		No	ClinGen gnomAD
rs760849296 CA3507441	1018	D>N		No	ClinGen ExAC gnomAD
CA3507439 rs372555492	1019	N>D		No	ClinGen ESP ExAC gnomAD
rs189849168 CA3507438	1020	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs909165088 CA129098250	1020	D>N		No	ClinGen TOPMed gnomAD
rs375922340 CA129098219	1024	P>L		No	ClinGen ESP TOPMed
CA361754936 rs1221806662	1025	L>M		No	ClinGen gnomAD
rs1283951256 CA361754891	1027	D>N		No	ClinGen gnomAD
CA361754817 rs1382189753	1028	P>S		No	ClinGen gnomAD
rs1383355454 CA361754744	1030	P>H		No	ClinGen gnomAD
CA361754742 rs1383355454	1030	P>R		No	ClinGen gnomAD
rs748918501 CA3507434	1035	E>K		No	ClinGen ExAC gnomAD
CA3507433 rs772895326	1036	G>S		No	ClinGen ExAC
CA361754362 rs1357545765	1038	L>P		No	ClinGen TOPMed
rs1195710331 CA361754327	1039	E>G		No	ClinGen TOPMed
CA3507431 rs374003999	1042	P>S		No	ClinGen ESP ExAC gnomAD
CA361754080 rs1186958354	1044	L>P		No	ClinGen gnomAD
rs369848216 CA129098205	1045	A>T		No	ClinGen ESP TOPMed
rs754945283 CA3507429	1045	A>V		No	ClinGen ExAC gnomAD
CA361754021 rs1262809438	1046	S>N		No	ClinGen TOPMed gnomAD
CA3507398 rs752920926	1047	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1561980855 CA361753291	1048	T>I		No	ClinGen Ensembl
rs997837689 CA129096987	1050	N>S		No	ClinGen TOPMed gnomAD
rs1205902689 CA361753238	1051	E>K		No	ClinGen gnomAD
rs752022391 CA3507395	1052	V>I		No	ClinGen ExAC gnomAD
CA3507394 rs766897807	1053	N>S		No	ClinGen ExAC gnomAD
rs766897807 CA361753186	1053	N>T		No	ClinGen ExAC gnomAD
rs900848864 CA129096973	1054	T>S		No	ClinGen TOPMed gnomAD
rs1337118827 CA361753082	1058	I>V		No	ClinGen gnomAD
CA129096963 rs888526507	1059	S>F		No	ClinGen TOPMed gnomAD
rs1304869438 CA361753013	1060	C>F		No	ClinGen gnomAD
CA3507391 rs750794405	1060	C>R		No	ClinGen ExAC
CA361752975 rs765584733	1061	D>H		No	ClinGen ExAC TOPMed gnomAD
rs765584733 CA3507390	1061	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761510787 CA3507389	1062	S>N		No	ClinGen ExAC gnomAD
rs760292775 CA3507386	1062	S>R		No	ClinGen ExAC TOPMed gnomAD
rs760292775 CA3507388	1062	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3507384 rs772147572	1063	P>H		No	ClinGen ExAC gnomAD
CA3507385 rs775520030	1063	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775520030 CA361752909	1063	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1267451911 CA361752834	1065	E>D		No	ClinGen gnomAD
CA361752855 rs1480148607	1065	E>K		No	ClinGen gnomAD
CA361752765 rs576668629	1069	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444854414 CA361752726	1069	E>G		No	ClinGen TOPMed
rs576668629 COSM1696557 CA3507381	1069	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3507380 rs748372109	1071	E>Q		No	ClinGen ExAC gnomAD
rs781302526 CA3507379	1073	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3507378 rs755005245	1074	P>L		No	ClinGen ExAC gnomAD
rs1002145058 CA129096930	1075	Q>H		No	ClinGen TOPMed gnomAD
rs1288552222 CA361752468	1075	Q>P		No	ClinGen gnomAD
CA3507377 rs376730887	1076	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA361752450 rs376730887	1076	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507375 rs758904285	1080	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765611204 CA3507373	1082	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753485639 CA3507371	1084	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1160163328 CA361752131	1084	P>L		No	ClinGen gnomAD
CA361751998 rs1444001836	1087	E>K		No	ClinGen TOPMed
rs1192950716 CA361751955	1088	Q>*		No	ClinGen gnomAD
rs1478654642 CA361751951	1088	Q>R		No	ClinGen gnomAD
CA3507368 rs760205038	1090	P>L		No	ClinGen ExAC TOPMed gnomAD
rs146614144 CA3507366	1092	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507365 rs146614144 COSM327121	1092	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1393883722 CA361751738	1093	G>R		No	ClinGen TOPMed
CA3507361 rs367604639	1094	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA129096900 rs936848381	1094	C>S		No	ClinGen Ensembl
CA3507362 rs571909632	1094	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361751660 rs1405991603	1095	P>S		No	ClinGen TOPMed
rs114435947 COSM205988 CA3507359	1096	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3507357 rs758520535	1097	P>S		No	ClinGen ExAC
CA361751571 rs151236133	1098	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1435151 CA3507355 rs151236133	1098	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs373655593 CA3507354	1099	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs976451640 CA129096884	1101	A>T		No	ClinGen Ensembl
rs1200297003 CA361751444	1103	D>V		No	ClinGen TOPMed

8 associated diseases with P09619

[MIM: 131440]: Myeloproliferative disorder chronic with eosinophilia (MPE)

A hematologic disorder characterized by malignant eosinophils proliferation. Note=The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB (PubMed:21938754). {ECO:0000269|PubMed:12181402, ECO:0000269|PubMed:12907457, ECO:0000269|PubMed:15492236, ECO:0000269|PubMed:21938754}.

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with TRIP11 (PubMed:9373237). {ECO:0000269|PubMed:9373237}.

[MIM: 607785]: Leukemia, juvenile myelomonocytic (JMML)

An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2) with SPECC1 (PubMed:15087372). {ECO:0000269|PubMed:15087372}.

[MIM: 615007]: Basal ganglia calcification, idiopathic, 4 (IBGC4)

A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:23255827, ECO:0000269|PubMed:24065723, ECO:0000269|PubMed:26599395}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 228550]: Myofibromatosis, infantile 1 (IMF1)

A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. {ECO:0000269|PubMed:23731537, ECO:0000269|PubMed:23731542}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616592]: Kosaki overgrowth syndrome (KOGS)

A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging. {ECO:0000269|PubMed:25454926}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601812]: Premature aging syndrome, Penttinen type (PENTT)

A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. {ECO:0000269|PubMed:26279204}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A hematologic disorder characterized by malignant eosinophils proliferation. Note=The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5'-end of CEP85L (isoform 4) to the 3'-end of PDGFRB (PubMed:21938754). {ECO:0000269|PubMed:12181402, ECO:0000269|PubMed:12907457, ECO:0000269|PubMed:15492236, ECO:0000269|PubMed:21938754}.
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with TRIP11 (PubMed:9373237). {ECO:0000269|PubMed:9373237}.
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2) with SPECC1 (PubMed:15087372). {ECO:0000269|PubMed:15087372}.
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:23255827, ECO:0000269|PubMed:24065723, ECO:0000269|PubMed:26599395}. Note=The disease is caused by variants affecting the gene represented in this entry.
A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. {ECO:0000269|PubMed:23731537, ECO:0000269|PubMed:23731542}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging. {ECO:0000269|PubMed:25454926}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. {ECO:0000269|PubMed:26279204}. Note=The disease is caused by variants affecting the gene represented in this entry.

16 regional properties for P09619

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	600 - 962	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	601 - 956	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class III, conserved site	659 - 672	IPR001824
domain	Immunoglobulin subtype 2	45 - 107	IPR003598-1
domain	Immunoglobulin subtype 2	226 - 298	IPR003598-2
domain	Immunoglobulin subtype 2	331 - 403	IPR003598-3
domain	Immunoglobulin subtype	39 - 121	IPR003599-1
domain	Immunoglobulin subtype	220 - 311	IPR003599-2
domain	Immunoglobulin subtype	325 - 416	IPR003599-3
domain	Immunoglobulin-like domain	27 - 117	IPR007110-1
domain	Immunoglobulin-like domain	214 - 307	IPR007110-2
active_site	Tyrosine-protein kinase, active site	822 - 834	IPR008266
domain	Immunoglobulin I-set	333 - 413	IPR013098
domain	Immunoglobulin	40 - 110	IPR013151
binding_site	Protein kinase, ATP binding site	606 - 634	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	600 - 958	IPR020635

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane; Single-pass type I membrane protein Cytoplasmic vesicle Lysosome lumen	After ligand binding, the autophosphorylated receptor is ubiquitinated and internalized, leading to its degradation
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF53	PLATELET-DERIVED GROWTH FACTOR RECEPTOR BETA
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	PDGF signaling pathway PDGF receptor B Angiogenesis PDGFR

14 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
intrinsic component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.
lysosomal lumen	The volume enclosed within the lysosomal membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

15 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
phosphatidylinositol 3-kinase binding	Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
platelet activating factor receptor activity	Combining with platelet activating factor to initiate a change in cell activity.
platelet-derived growth factor beta-receptor activity	Combining with platelet-derived growth factor isoform PDGF-BB or PDGF-AB to initiate a change in cell activity.
platelet-derived growth factor binding	Binding to platelet-derived growth factor.
platelet-derived growth factor receptor binding	Binding to a platelet-derived growth factor receptor.
platelet-derived growth factor-activated receptor activity	Combining with platelet-derived growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.
vascular endothelial growth factor binding	Binding to a vascular endothelial growth factor.

61 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
aorta morphogenesis	The process in which the anatomical structures of an aorta are generated and organized. An aorta is an artery that carries blood from the heart to other parts of the body.
cardiac myofibril assembly	The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell migration involved in coronary angiogenesis	The orderly movement of a cell from one site to another that will contribute to the formation of new blood vessels in the heart from pre-existing blood vessels.
cell migration involved in vasculogenesis	The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes.
glycosaminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.
inner ear development	The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure.
lung growth	The increase in size or mass of a lung. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
metanephric comma-shaped body morphogenesis	The process in which the metanephric comma-shaped body is generated and organized. The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros.
metanephric glomerular capillary formation	The process that gives rise to a metanephric glomerular capillary. This process pertains to the initial formation of a structure from unspecified parts.
metanephric glomerular mesangial cell proliferation involved in metanephros development	The multiplication or reproduction of glomerular mesangial cells in the metanephros, resulting in the expansion of the population.
metanephric mesenchymal cell migration	The orderly movement of undifferentiated metanephric mesenchymal cells (precursors to metanephric mesangial cells) from the mesenchyme into the cleft of the developing glomerulus, during development of the metanephros.
metanephric mesenchyme development	The biological process whose specific outcome is the progression of a metanephric mesenchyme from an initial condition to its mature state. This process begins with the formation of metanephric mesenchyme and ends with the mature structure. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros.
metanephric S-shaped body morphogenesis	The process in which the metanephric S-shaped body is generated and organized. The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
platelet-derived growth factor receptor-beta signaling pathway	The series of molecular signals initiated by the binding of a ligand to a beta-type platelet-derived growth factor receptor (PDGFbeta) on the surface of a signal-receiving cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of calcium ion import	Any process that increases the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding to a platelet-derived growth factor receptor (PDGFR) on the surface of a cell, which activates or increases the frequency, rate or extent of cell proliferation.
positive regulation of chemotaxis	Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.
positive regulation of collagen biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals.
positive regulation of DNA biosynthetic process	Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of fibroblast proliferation	Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of hepatic stellate cell activation	Any process that activates or increases the frequency, rate or extent of hepatic stellate cell activation.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	Any process that increases the frequency, rate or extent of metanephric mesenchymal cell migration resulting from the platelet-derived growth factor receptor-beta signaling pathway.
positive regulation of mitotic nuclear division	Any process that activates or increases the frequency, rate or extent of mitosis.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of phospholipase C activity	Any process that increases the rate of phospholipase C activity.
positive regulation of phosphoprotein phosphatase activity	Any process that activates or increases the activity of a phosphoprotein phosphatase.
positive regulation of reactive oxygen species metabolic process	Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process.
positive regulation of Rho protein signal transduction	Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction.
positive regulation of smooth muscle cell migration	Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
response to estradiol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to estrogen	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
response to fluid shear stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface.
response to hydrogen peroxide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus.
response to hyperoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating increased oxygen tension.
response to retinoic acid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
response to toxic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.
retina vasculature development in camera-type eye	The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
smooth muscle cell chemotaxis	The directed movement of a smooth muscle cell in response to an external stimulus.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

100 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q6QNF3	PDGFRB	Platelet-derived growth factor receptor beta	Canis lupus familiaris (Dog) (Canis familiaris)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MRLPGAMPAL	ALKGELLLLS	LLLLLEPQIS	QGLVVTPPGP	ELVLNVSSTF	VLTCSGSAPV
70	80	90	100	110	120
VWERMSQEPP	QEMAKAQDGT	FSSVLTLTNL	TGLDTGEYFC	THNDSRGLET	DERKRLYIFV
130	140	150	160	170	180
PDPTVGFLPN	DAEELFIFLT	EITEITIPCR	VTDPQLVVTL	HEKKGDVALP	VPYDHQRGFS
190	200	210	220	230	240
GIFEDRSYIC	KTTIGDREVD	SDAYYVYRLQ	VSSINVSVNA	VQTVVRQGEN	ITLMCIVIGN
250	260	270	280	290	300
EVVNFEWTYP	RKESGRLVEP	VTDFLLDMPY	HIRSILHIPS	AELEDSGTYT	CNVTESVNDH
310	320	330	340	350	360
QDEKAINITV	VESGYVRLLG	EVGTLQFAEL	HRSRTLQVVF	EAYPPPTVLW	FKDNRTLGDS
370	380	390	400	410	420
SAGEIALSTR	NVSETRYVSE	LTLVRVKVAE	AGHYTMRAFH	EDAEVQLSFQ	LQINVPVRVL
430	440	450	460	470	480
ELSESHPDSG	EQTVRCRGRG	MPQPNIIWSA	CRDLKRCPRE	LPPTLLGNSS	EEESQLETNV
490	500	510	520	530	540
TYWEEEQEFE	VVSTLRLQHV	DRPLSVRCTL	RNAVGQDTQE	VIVVPHSLPF	KVVVISAILA
550	560	570	580	590	600
LVVLTIISLI	ILIMLWQKKP	RYEIRWKVIE	SVSSDGHEYI	YVDPMQLPYD	STWELPRDQL
610	620	630	640	650	660
VLGRTLGSGA	FGQVVEATAH	GLSHSQATMK	VAVKMLKSTA	RSSEKQALMS	ELKIMSHLGP
670	680	690	700	710	720
HLNVVNLLGA	CTKGGPIYII	TEYCRYGDLV	DYLHRNKHTF	LQHHSDKRRP	PSAELYSNAL
730	740	750	760	770	780
PVGLPLPSHV	SLTGESDGGY	MDMSKDESVD	YVPMLDMKGD	VKYADIESSN	YMAPYDNYVP
790	800	810	820	830	840
SAPERTCRAT	LINESPVLSY	MDLVGFSYQV	ANGMEFLASK	NCVHRDLAAR	NVLICEGKLV
850	860	870	880	890	900
KICDFGLARD	IMRDSNYISK	GSTFLPLKWM	APESIFNSLY	TTLSDVWSFG	ILLWEIFTLG
910	920	930	940	950	960
GTPYPELPMN	EQFYNAIKRG	YRMAQPAHAS	DEIYEIMQKC	WEEKFEIRPP	FSQLVLLLER
970	980	990	1000	1010	1020
LLGEGYKKKY	QQVDEEFLRS	DHPAILRSQA	RLPGFHGLRS	PLDTSSVLYT	AVQPNEGDND
1030	1040	1050	1060	1070	1080
YIIPLPDPKP	EVADEGPLEG	SPSLASSTLN	EVNTSSTISC	DSPLEPQDEP	EPEPQLELQV
1090	1100
EPEPELEQLP	DSGCPAPRAE	AEDSFL