AiPD: Autoinhibited Protein Database

P29323

Gene name	EPHB2 (DRT, EPHT3, EPTH3, ERK, HEK5, TYRO5)
Protein name	Ephrin type-B receptor 2
Names	Developmentally-regulated Eph-related tyrosine kinase, ELK-related tyrosine kinase, EPH tyrosine kinase 3, EPH-like kinase 5, EK5, hEK5, Renal carcinoma antigen NY-REN-47, Tyrosine-protein kinase TYRO5, Tyrosine-protein kinase receptor EPH-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2048
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	EPH RECEPTOR A5 (PTHR46877)

Descriptions

Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

Target domain	621-884 (Protein kinase domain)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

595-621 (Juxtamembrane domain)

Target domain

621-884 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Mutagenesis experiment

Accessory elements

763-791 (Activation loop from InterPro)

Target domain	621-884 (Protein kinase domain)
Relief mechanism
Assay

References

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

Wybenga-Groot LE et al. (2001) "Structural basis for autoinhibition of the Ephb2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region", Cell, 106, 745-57

Autoinhibited structure

Activated structure

6 structures for P29323

Entry ID	Method	Resolution	Chain	Position	Source
1B4F	X-ray	195 A	A/B/C/D/E/F/G/H	908-985	PDB
1F0M	X-ray	220 A	A	908-985	PDB
2QBX	X-ray	230 A	A/B	20-196	PDB
3ZFM	X-ray	227 A	A	604-898	PDB
8EBL	X-ray	137 A	C/D	1042-1055	PDB
AF-P29323-F1	Predicted				AlphaFoldDB

764 variants for P29323

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs150803261 CA071318 RCV000207356	263	V>I	Irido-corneo-trabecular dysgenesis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_032854 CA119704 rs35882952 RCV000894397 RCV000009059	279	A>S	prostate cancer Prostate cancer/brain cancer susceptibility [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000974432 rs28936395 RCV000009060 CA119709 VAR_042174	678	D>N	Prostate cancer/brain cancer susceptibility [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA119699 COSM1667247 COSM1667245 RCV000009058 rs121912582	722	Q>*	Prostate cancer/brain cancer susceptibility prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs761749948 CA678904 RCV000782357 VAR_082702	745	R>C	BDPLT22 Bleeding disorder, platelet-type, 22 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000434509 CA678950 rs138551214	786	G>R	Neoplasm of the large intestine [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA119714 rs76826147 RCV000009061	1019	K>*	Prostate cancer/brain cancer susceptibility [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA678237 rs776058142	4	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA339256275 rs1469503553	4	R>W		No	ClinGen TOPMed gnomAD
rs1316236885 CA339256296	8	A>T		No	ClinGen TOPMed gnomAD
CA339256302 rs1168590699	9	A>T		No	ClinGen TOPMed
rs1361176539 CA339256313	11	L>M		No	ClinGen gnomAD
CA19519872 rs779339531	21	E>D		No	ClinGen gnomAD
COSM4136013 COSM4136014 CA678288 rs201121087	22	T>M	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs757765223 CA678290	23	L>I		No	ClinGen ExAC gnomAD
rs1188180163 CA339256494	24	M>V		No	ClinGen gnomAD
CA678291 rs765772842	25	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1423955367 CA339256517	27	T>A		No	ClinGen gnomAD
rs372861666 CA678293	27	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA678294 rs780349936	28	T>A		No	ClinGen ExAC gnomAD
rs1050181261 CA19519874	29	A>V		No	ClinGen TOPMed gnomAD
CA339256534 rs1336797574	30	T>S		No	ClinGen gnomAD
COSM1340095 CA678297 rs141486320	31	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs770838622 CA678299	35	W>G		No	ClinGen ExAC gnomAD
CA339256563 rs1221917769	35	W>L		No	ClinGen gnomAD
rs1008293651 CA339256569	36	M>L		No	ClinGen TOPMed gnomAD
CA19519875 rs1008293651	36	M>V		No	ClinGen TOPMed gnomAD
rs113343034 CA19519876	37	V>A		No	ClinGen Ensembl
CA339256580 rs113343034	37	V>G		No	ClinGen Ensembl
CA678300 rs774311390	38	H>P		No	ClinGen ExAC gnomAD
rs745703555 CA678301	39	P>L		No	ClinGen ExAC gnomAD
CA678319 rs772063930	49	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA678320 rs780057705	50	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM1584218 CA678321 rs569209811	51	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs1266296785 CA339256707	53	M>I		No	ClinGen gnomAD
rs202156735 CA678323 COSM1584217	55	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs773210880 CA678326	57	R>C		No	ClinGen ExAC gnomAD
rs1159845464 CA339256732	57	R>H		No	ClinGen gnomAD
rs766858561 CA678328	61	V>M		No	ClinGen ExAC gnomAD
CA339256764 rs1292993183	62	C>G		No	ClinGen gnomAD
rs751987143 CA678329	63	N>D		No	ClinGen ExAC gnomAD
rs969702593 CA339256774	63	N>K		No	ClinGen TOPMed gnomAD
rs759912375 CA678330	63	N>S		No	ClinGen ExAC gnomAD
rs72653677 CA678331	64	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339256788 rs1570271001	65	F>L		No	ClinGen Ensembl
CA339256797 rs1466492153	67	S>A		No	ClinGen TOPMed
CA678333 rs756817061	68	S>R		No	ClinGen ExAC gnomAD
COSM3400457 rs763188025 COSM3400459 CA678335	74	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1661690 CA678334 rs372282301 COSM1661692	74	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1414024262 CA339256861	76	K>R		No	ClinGen gnomAD
rs758480347 CA678336	78	I>V		No	ClinGen ExAC gnomAD
CA678338 rs746830376	79	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139122679 CA678337 COSM1320380	79	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA678339 rs181872637	80	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678340 rs780811130	81	R>C		No	ClinGen ExAC TOPMed gnomAD
CA678341 COSM1235638 rs368075671	81	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs368075671 CA19520185	81	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201337795 CA678343	83	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA339256912 rs1459453657	85	R>H		No	ClinGen gnomAD
rs1369130825 CA339256909	85	R>S		No	ClinGen gnomAD
rs763014732 CA678344	86	I>V		No	ClinGen ExAC gnomAD
CA339256929 rs764400386	88	V>L		No	ClinGen TOPMed
CA19520186 rs764400386	88	V>M		No	ClinGen TOPMed
CA678347 rs759909155	90	M>V		No	ClinGen ExAC gnomAD
rs1378788597 CA339256972	94	V>M		No	ClinGen gnomAD
CA339256981 rs1394226453	95	R>H		No	ClinGen gnomAD
rs200905937 CA19520187	98	S>G		No	ClinGen gnomAD
CA339257029 rs1246347611	102	S>G		No	ClinGen gnomAD
rs958854881 CA19520188	103	V>M		No	ClinGen gnomAD
CA19520189 rs113970284	105	G>V		No	ClinGen Ensembl
rs1240448962 CA339257057	106	S>F		No	ClinGen gnomAD
rs757962602 CA678353	108	K>N		No	ClinGen ExAC TOPMed gnomAD
CA339257123 rs1257459801	115	Y>*		No	ClinGen gnomAD
rs1557672162 CA339257121	115	Y>F		No	ClinGen Ensembl
CA678354 rs779665367	116	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs779665367 CA339257129	116	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs200904787 CA678355	118	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339257143 rs200904787	118	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754806573 CA678356	120	F>S		No	ClinGen ExAC TOPMed gnomAD
rs781054820 CA678357	121	D>E		No	ClinGen ExAC gnomAD
rs1464345226 CA339257172	122	S>L		No	ClinGen TOPMed gnomAD
CA339257168 rs1402215618	122	S>P		No	ClinGen gnomAD
CA19520192 rs867009642	123	A>T		No	ClinGen Ensembl
rs756394801 CA678359	125	K>R		No	ClinGen ExAC gnomAD
rs1570271414 CA339257193	126	T>P		No	ClinGen Ensembl
rs777940688 CA678360	128	P>A		No	ClinGen ExAC gnomAD
rs749417609 CA678361	129	N>S		No	ClinGen ExAC TOPMed gnomAD
CA678362 rs771019728	130	W>R		No	ClinGen ExAC gnomAD
rs746387783 CA678364	131	M>I		No	ClinGen ExAC gnomAD
CA678363 rs774252771	131	M>V		No	ClinGen ExAC TOPMed gnomAD
CA339257233 rs1310867447	132	E>Q		No	ClinGen gnomAD
CA339257264 rs772397371	136	V>L		No	ClinGen ExAC TOPMed gnomAD
CA678365 rs772397371	136	V>M		No	ClinGen ExAC TOPMed gnomAD
CA678367 rs775993472	140	T>I		No	ClinGen ExAC gnomAD
CA678366 rs775993472	140	T>N		No	ClinGen ExAC gnomAD
rs1570271473 CA339257290	140	T>P		No	ClinGen Ensembl
CA678368 rs765034780	141	I>V		No	ClinGen ExAC gnomAD
rs1249080185 CA339257321	145	E>K		No	ClinGen gnomAD
CA339257330 rs1308659541	146	S>R		No	ClinGen TOPMed
CA678372 rs750977201	148	S>C		No	ClinGen ExAC gnomAD
rs372861886 CA19520193	149	Q>H		No	ClinGen ESP TOPMed gnomAD
CA19520194 rs931175948	153	G>R		No	ClinGen Ensembl
rs1451521104 CA339257383	154	G>D		No	ClinGen gnomAD
rs1175066410 CA339257387	155	R>C		No	ClinGen gnomAD
rs185887197 CA678374	155	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376990288 CA19520195	156	V>I		No	ClinGen ESP TOPMed gnomAD
CA19520196 rs551164855	157	M>I		No	ClinGen gnomAD
rs1400063025 CA339257407	158	K>T		No	ClinGen gnomAD
CA678376 rs755879848	159	I>T		No	ClinGen ExAC gnomAD
rs1347733653 CA339257433	162	E>K		No	ClinGen TOPMed
COSM1205514 rs908259906 CA19520199	164	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA19520198 rs982617664	164	R>W		No	ClinGen Ensembl
rs1215107970 CA339257468	167	G>R		No	ClinGen gnomAD
rs751856545 CA678381	168	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751856545 CA678382	168	P>T		No	ClinGen ExAC TOPMed gnomAD
CA19520200 rs891984699	169	V>M		No	ClinGen TOPMed
CA678385 rs769177192	171	R>C		No	ClinGen ExAC gnomAD
CA678386 rs567475875	171	R>H		No	ClinGen ExAC TOPMed gnomAD
CA678387 rs762710767	172	S>G		No	ClinGen ExAC gnomAD
CA339257493 rs1436755607	172	S>N		No	ClinGen gnomAD
CA339257502 rs1434629622	173	G>A		No	ClinGen gnomAD
COSM1601887 rs1394423621 CA339257498 COSM1601885	173	G>S	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA339257553 rs773979383	180	D>E		No	ClinGen ExAC gnomAD
rs773979383 CA678389	180	D>E		No	ClinGen ExAC gnomAD
CA678390 rs758937616	181	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs758937616 CA19520202	181	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs752597558 CA678392	183	G>S		No	ClinGen ExAC gnomAD
CA339257571 rs1369878562	184	C>R		No	ClinGen gnomAD
CA339257583 rs1233325500	185	M>T		No	ClinGen gnomAD
CA339257581 rs1293700227	185	M>V		No	ClinGen TOPMed gnomAD
rs756004468 CA678393	188	I>T		No	ClinGen ExAC gnomAD
CA678394 rs763878876	189	A>T		No	ClinGen ExAC gnomAD
CA339257609 rs1331861062	189	A>V		No	ClinGen TOPMed
COSM1998226 COSM1998224 CA678396 rs757529004	190	V>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA339257618 rs1570271913	191	R>C		No	ClinGen Ensembl
CA678399 rs758432081	191	R>H		No	ClinGen ExAC TOPMed gnomAD
CA678401 rs747523772	193	F>C		No	ClinGen ExAC gnomAD
CA678400 rs780145210	193	F>L		No	ClinGen ExAC TOPMed gnomAD
CA678402 rs769230171	195	R>C		No	ClinGen ExAC gnomAD
rs370909083 CA678403	195	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs769230171 CA339257642	195	R>S		No	ClinGen ExAC gnomAD
rs775538924 CA678404	198	P>H		No	ClinGen ExAC TOPMed gnomAD
RCV000709948 CA19520206 rs1020423787	199	R>C		No	ClinGen ClinVar Ensembl dbSNP
rs201754821 CA678405 VAR_032853	199	R>H	prostate cancer [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs903253398 CA19520207	200	I>T		No	ClinGen gnomAD
rs1570272062 CA339257680	201	I>T		No	ClinGen Ensembl
CA678408 rs202146067	212	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1331127632 CA339257781	216	S>N		No	ClinGen gnomAD
rs753696355 CA678412	220	V>A		No	ClinGen ExAC TOPMed gnomAD
rs761494715 CA678413	222	A>G		No	ClinGen ExAC gnomAD
CA19520208 rs867198539	223	R>Q		No	ClinGen Ensembl
CA678415 rs750644441	223	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA678414 rs533973381	223	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA339257852 rs755610456	228	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755610456 CA678419 COSM1340097	228	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA339257855 rs1300497216	228	A>V		No	ClinGen TOPMed
CA678420 rs200990235	229	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678422 rs770077850	231	E>G		No	ClinGen ExAC gnomAD
CA678423 rs778157217	232	E>K		No	ClinGen ExAC gnomAD
CA678424 rs745510281	233	V>E		No	ClinGen ExAC TOPMed gnomAD
rs745510281 CA339257888	233	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1389541337 CA339257889	234	D>N		No	ClinGen gnomAD
rs1272128894 CA339257899	235	V>L		No	ClinGen TOPMed
rs760169459 CA678427	242	N>H		No	ClinGen ExAC gnomAD
rs768617454 CA339257952	242	N>K		No	ClinGen ExAC TOPMed gnomAD
rs571009170 CA678429	243	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs761772326 CA678431	244	D>E		No	ClinGen ExAC TOPMed gnomAD
rs901860207 CA339257958	244	D>N		No	ClinGen TOPMed gnomAD
rs901860207 CA19520210	244	D>Y		No	ClinGen TOPMed gnomAD
rs750175312 CA678432	245	G>S		No	ClinGen ExAC TOPMed gnomAD
CA339257971 rs1318420169 COSM1584215	246	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1570272374 CA339257979	247	W>G		No	ClinGen Ensembl
CA678433 rs202178471	249	V>G		No	ClinGen ExAC gnomAD
CA678435 rs766704829	250	P>A		No	ClinGen ExAC gnomAD
CA339258002 rs751729316	251	I>F		No	ClinGen ExAC gnomAD
rs751729316 CA678436	251	I>L		No	ClinGen ExAC gnomAD
rs1192558361 CA339258012	252	G>V		No	ClinGen gnomAD
CA678438 rs200565776	253	R>C		No	ClinGen 1000Genomes ExAC
rs746154144 CA678439	253	R>H		No	ClinGen ExAC TOPMed gnomAD
CA19520213 rs556445443	255	M>I		No	ClinGen 1000Genomes gnomAD
CA339258025 rs1476616446	255	M>L		No	ClinGen gnomAD
CA339258026 rs1476616446	255	M>V		No	ClinGen gnomAD
CA678442 rs749647994	261	E>K		No	ClinGen ExAC gnomAD
rs749647994 CA678443	261	E>Q		No	ClinGen ExAC gnomAD
rs779646424 CA678444	262	A>G		No	ClinGen ExAC gnomAD
CA19520214 rs920925900	262	A>T		No	ClinGen Ensembl
CA678445 rs768188013	264	E>K		No	ClinGen ExAC gnomAD
CA678446 rs202059800	265	N>Y		No	ClinGen 1000Genomes ExAC
CA19520217 rs867341789	267	T>A		No	ClinGen Ensembl
CA678447 rs369702152	268	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200975274 CA339258123	270	R>*		No	ClinGen TOPMed gnomAD
rs541921750 CA339258125	270	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA678448 rs541921750	270	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA19224350 rs753387416	277	F>L		No	ClinGen Ensembl
rs35882952 CA678474	279	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678475 rs772406361	281	Q>K		No	ClinGen ExAC gnomAD
rs142113032 CA678476	283	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338952261 rs1252908984	285	A>T		No	ClinGen TOPMed
CA338952334 rs1473785757	287	T>I		No	ClinGen TOPMed
CA338952339 rs1445956482	288	H>Y		No	ClinGen gnomAD
rs1570404389 CA338952494	292	N>T		No	ClinGen Ensembl
rs754403229 CA338952549	294	R>G		No	ClinGen ExAC TOPMed gnomAD
CA678480 rs147727992	294	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs754403229 CA678479	294	R>W		No	ClinGen ExAC TOPMed gnomAD
CA678481 rs765604107	302	N>S		No	ClinGen ExAC gnomAD
CA338952859 rs1457553929	306	R>C		No	ClinGen TOPMed gnomAD
rs750776222 COSM1205512 CA678482	306	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750776222 CA338952862	306	R>P		No	ClinGen ExAC TOPMed gnomAD
CA678483 rs754693296	307	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1369082768 CA338953007	313	D>E		No	ClinGen gnomAD
CA338952995 rs1186903570	313	D>N		No	ClinGen gnomAD
rs752199354 CA678485	315	D>E		No	ClinGen ExAC gnomAD
rs1335366711 CA338953074	316	P>L		No	ClinGen TOPMed
CA338953084 rs1570404498	317	L>P		No	ClinGen Ensembl
rs150415344 CA678487	317	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749240821 CA678488	318	D>G		No	ClinGen ExAC gnomAD
rs1298722748 CA338953143	319	M>V		No	ClinGen gnomAD
rs770933694 CA678489	320	P>S		No	ClinGen ExAC gnomAD
CA338953249 rs1557720230	323	T>A		No	ClinGen Ensembl
rs1290207651 CA338954003	324	I>L		No	ClinGen gnomAD
rs1366002848 CA338954064	326	S>P		No	ClinGen TOPMed gnomAD
CA338954080 rs200298851	327	A>P		No	ClinGen ExAC TOPMed gnomAD
CA678525 rs200298851	327	A>T		No	ClinGen ExAC TOPMed gnomAD
CA678526 rs764789610	327	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779960189 CA678529	329	Q>H		No	ClinGen ExAC gnomAD
CA338954156 rs1035342718	329	Q>P		No	ClinGen TOPMed gnomAD
rs1035342718 CA19225763	329	Q>R		No	ClinGen TOPMed gnomAD
rs142890560 CA338954177	330	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142890560 CA678530	330	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487407756 CA338954269	334	S>G		No	ClinGen gnomAD
CA678532 rs781369771	341	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1345694016 CA338954446	341	M>R		No	ClinGen TOPMed
rs781369771 CA338954433	341	M>V		No	ClinGen ExAC TOPMed gnomAD
CA19225799 rs1017120256	343	E>G		No	ClinGen gnomAD
rs1156690329 CA338954523 COSM1501770	344	W>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338954535 rs1570407605	345	T>P		No	ClinGen Ensembl
rs748321933 CA678533	347	P>H		No	ClinGen ExAC TOPMed gnomAD
CA678534 rs769893752	348	R>C		No	ClinGen ExAC gnomAD
COSM3385893 COSM3385892 CA678535 rs543324058	348	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA338954603 rs543324058	348	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA678537 rs368529651	349	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs918290908 CA19225853	351	G>R		No	ClinGen TOPMed gnomAD
CA678542 rs761515610	357	V>G		No	ClinGen ExAC TOPMed gnomAD
COSM1998682 CA678541 COSM1998683 rs528777153	357	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA678544 rs749943493	359	N>D		No	ClinGen ExAC gnomAD
rs56180036 CA678546 VAR_042173	361	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751420728 CA678547	366	G>V		No	ClinGen ExAC gnomAD
CA678548 rs199648689	367	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141626076 CA338955113	369	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338955111 rs141626076	369	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141626076 RCV000958264 CA678552	369	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756268531 CA678551	369	R>W		No	ClinGen ExAC gnomAD
CA338955131 rs1474049858	370	G>D		No	ClinGen TOPMed
rs749323641 CA678553	370	G>S		No	ClinGen ExAC gnomAD
rs1474049858 CA338955129	370	G>V		No	ClinGen TOPMed
rs1464392915 CA338955145	371	A>D		No	ClinGen gnomAD
CA19225955 rs200609603	371	A>T		No	ClinGen 1000Genomes
CA19225966 rs756230281	374	R>C		No	ClinGen Ensembl
CA678555 rs550233379	374	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338955217 rs1444928620	376	G>R		No	ClinGen gnomAD
rs1570407870 CA338955242	377	D>G		No	ClinGen Ensembl
CA678558 rs147147271	378	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295335562 CA338955272	379	V>A		No	ClinGen gnomAD
rs761618034 CA678559	379	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1415136619 CA338955285	380	Q>R		No	ClinGen TOPMed
rs368104279 CA678560	382	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772822931 CA678561	383	P>Q		No	ClinGen ExAC gnomAD
CA19225985 rs933280633	383	P>T		No	ClinGen TOPMed
rs902421968 CA19225998	384	R>C		No	ClinGen TOPMed
rs762351366 CA678562	384	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338955338 rs762351366	384	R>L		No	ClinGen ExAC TOPMed gnomAD
CA338955366 rs1206457903	386	L>V		No	ClinGen TOPMed gnomAD
rs1235258442 CA338955397	388	L>V		No	ClinGen gnomAD
CA678565 rs759453037	390	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1477076406 CA338955446	391	P>A		No	ClinGen TOPMed gnomAD
rs756394867 CA678568	392	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777940741 CA678569	392	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338955483 rs1358713907	393	I>T		No	ClinGen gnomAD
rs757303439 CA678571	394	Y>F		No	ClinGen ExAC gnomAD
CA338955539 rs1233157301	396	S>N		No	ClinGen TOPMed
rs1338681511 CA338955578	399	L>V		No	ClinGen gnomAD
rs772695950 CA678575	403	Q>R		No	ClinGen ExAC gnomAD
rs1470876488 CA338955735	407	E>K		No	ClinGen TOPMed
CA678576 rs780635011	408	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747350024 CA678577	410	A>T		No	ClinGen ExAC gnomAD
CA338955865 rs1287447674	413	G>A		No	ClinGen gnomAD
CA678580 rs762628056	413	G>S		No	ClinGen ExAC gnomAD
rs767437040 CA678584	414	V>A		No	ClinGen ExAC gnomAD
rs149014913 CA678583	414	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678585 rs752527403	416	D>E		No	ClinGen ExAC TOPMed gnomAD
rs866069361 CA19226128	416	D>N		No	ClinGen gnomAD
rs760440909 CA678586	419	P>L		No	ClinGen ExAC gnomAD
CA338956031 rs1394974857	420	F>L		No	ClinGen gnomAD
rs1017174010 CA19226139	420	F>Y		No	ClinGen Ensembl
rs763823836 CA678587	421	S>L		No	ClinGen ExAC TOPMed gnomAD
rs763823836 CA338956064	421	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1376751089 CA338956104	423	Q>P		No	ClinGen TOPMed
CA678591 rs778869890	424	F>L		No	ClinGen ExAC TOPMed gnomAD
rs757431628 CA678589	424	F>L		No	ClinGen ExAC gnomAD
rs1035921082 CA19226177	425	A>T		No	ClinGen TOPMed gnomAD
CA678593 rs780688056	427	V>M		No	ClinGen ExAC gnomAD
rs1030209033 CA19226198	429	I>V		No	ClinGen TOPMed
rs955502769 CA19226204	430	T>I		No	ClinGen Ensembl
CA338956271 rs1273060851	432	N>D		No	ClinGen gnomAD
CA338956273 rs1300104922	432	N>S		No	ClinGen gnomAD
CA19226214 rs985567063	434	A>S		No	ClinGen Ensembl
rs1249491997 CA338931875	435	A>V		No	ClinGen TOPMed gnomAD
rs1022230918 CA19181992	437	S>L		No	ClinGen TOPMed gnomAD
CA338931898 rs1330586270	438	A>T		No	ClinGen TOPMed
CA19181996 rs934809921	439	V>A		No	ClinGen gnomAD
CA678615 rs756898839	441	I>V		No	ClinGen ExAC TOPMed
rs1053225182 CA19181999	442	M>T		No	ClinGen TOPMed
CA678616 rs778604761	443	H>Y		No	ClinGen ExAC gnomAD
CA338932051 rs1207656881	446	S>I		No	ClinGen TOPMed gnomAD
CA338932050 rs1207656881	446	S>N		No	ClinGen TOPMed gnomAD
CA338932056 rs1272962368	446	S>R		No	ClinGen gnomAD
rs199940448 CA678617	447	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771598124 CA678618	447	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338932072 rs1236853618	448	T>I		No	ClinGen gnomAD
rs1189086300 CA338932069	448	T>S		No	ClinGen TOPMed
rs369350136 CA678620	449	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678621 rs768622376	451	S>G		No	ClinGen ExAC gnomAD
CA338932126 rs1421327677	453	T>P		No	ClinGen TOPMed
CA19182025 rs1044804695	453	T>S		No	ClinGen Ensembl
rs1327890307 CA338932210	458	Q>H		No	ClinGen gnomAD
rs764896361 CA678624	458	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA678625 rs773604400	459	P>L		No	ClinGen ExAC TOPMed gnomAD
rs549459711 CA678627	460	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338932278 rs1392511828	460	D>G		No	ClinGen gnomAD
rs377028693 CA678629	463	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA19182032 rs371215652	465	V>M		No	ClinGen ESP TOPMed gnomAD
CA678632 rs756522907	472	Q>P		No	ClinGen ExAC gnomAD
CA678633 rs138869509	474	Y>C		No	ClinGen ESP ExAC gnomAD
CA678635 rs757986859	476	K>E		No	ClinGen ExAC gnomAD
CA678662 rs138075206 RCV000882999	477	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338937467 rs774732880	478	L>I		No	ClinGen ExAC TOPMed gnomAD
CA678664 rs774732880	478	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1432200286 CA338937484	479	S>G		No	ClinGen TOPMed
rs759633255 CA678665	479	S>N		No	ClinGen ExAC gnomAD
rs772198021 CA678666	480	E>K		No	ClinGen ExAC
rs761300345 CA678668	481	Y>*		No	ClinGen ExAC TOPMed
CA678667 rs775374349	481	Y>H		No	ClinGen ExAC gnomAD
CA678671 rs762189253	482	N>K		No	ClinGen ExAC TOPMed
CA678669 rs764578709	482	N>S		No	ClinGen ExAC gnomAD
CA678670 rs764578709	482	N>T		No	ClinGen ExAC gnomAD
CA678673 rs576616864	483	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs576616864 CA678674	483	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs116848191 CA678675	484	T>P		No	ClinGen ExAC gnomAD
rs756162736 CA678677	485	A>V		No	ClinGen ExAC gnomAD
CA338937784 rs1570447491	489	P>L		No	ClinGen Ensembl
CA19189293 rs867115042	489	P>S		No	ClinGen TOPMed
rs867115042 CA338937768	489	P>T		No	ClinGen TOPMed
CA678678 rs777829293	491	N>K		No	ClinGen ExAC TOPMed gnomAD
CA678679 rs749185690	492	T>K		No	ClinGen ExAC TOPMed gnomAD
CA338937856 rs749185690	492	T>M		No	ClinGen ExAC TOPMed gnomAD
CA678682 rs201691912	495	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA678683 rs772170964	497	G>D		No	ClinGen ExAC TOPMed gnomAD
CA338937975 rs1570447541	497	G>S		No	ClinGen Ensembl
rs373865135 CA678685 COSM1205507	501	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA678687 rs777155810	502	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762242282 CA678688	504	Y>S		No	ClinGen ExAC gnomAD
CA338938263 rs1245548751	505	V>I		No	ClinGen TOPMed
rs765600046 CA678689	507	Q>H		No	ClinGen ExAC gnomAD
rs1455229794 CA338938327	507	Q>R		No	ClinGen gnomAD
CA678690 rs773439627	509	R>Q		No	ClinGen ExAC gnomAD
CA338938365 rs1406555949	509	R>W		No	ClinGen gnomAD
rs759303586 CA678691	511	R>C		No	ClinGen ExAC gnomAD
rs767048571 CA678692	511	R>H		No	ClinGen ExAC gnomAD
rs867477730 CA19189370	512	T>I		No	ClinGen Ensembl
rs531840904 CA19189372	513	V>M		No	ClinGen TOPMed gnomAD
rs1225749311 CA338938644	517	G>E		No	ClinGen gnomAD
COSM1648483 CA678698 COSM1648482 rs369387828	518	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA338938689 rs1332461819	518	R>H		No	ClinGen TOPMed gnomAD
rs1332461819 CA338938677	518	R>L		No	ClinGen TOPMed gnomAD
rs953288463 CA19189428	521	G>S		No	ClinGen TOPMed gnomAD
CA678701 rs780164151	522	K>E		No	ClinGen ExAC gnomAD
rs973792941 CA19189471	523	M>I		No	ClinGen TOPMed gnomAD
rs1231826239 CA338938816	523	M>L		No	ClinGen TOPMed gnomAD
CA338938817 rs1231826239	523	M>V		No	ClinGen TOPMed gnomAD
CA338938854 rs1183951115	524	Y>S		No	ClinGen gnomAD
rs1415181342 CA338938919	525	F>L		No	ClinGen gnomAD
rs1374313440 CA338939014	528	M>L		No	ClinGen TOPMed
rs1282208085 CA338939016	528	M>T		No	ClinGen TOPMed
rs1374313440 CA338939013	528	M>V		No	ClinGen TOPMed
CA19189477 rs772225772	529	T>I		No	ClinGen Ensembl
CA678702 rs747193087	530	E>G		No	ClinGen ExAC gnomAD
rs1166143294 CA338939058	530	E>K		No	ClinGen gnomAD
CA338940448 rs1415641222	532	E>K		No	ClinGen TOPMed gnomAD
CA338940471 rs1329134640	533	Y>D		No	ClinGen TOPMed
rs781320568 CA678721	534	Q>H		No	ClinGen ExAC gnomAD
rs748199133 CA678722	535	T>I		No	ClinGen ExAC TOPMed gnomAD
rs770385181 CA678723	540	K>E		No	ClinGen ExAC gnomAD
CA678724 rs778168582	542	P>L		No	ClinGen ExAC gnomAD
rs1310835470 CA338940689	542	P>T		No	ClinGen TOPMed
CA678725 rs749760761	544	I>V		No	ClinGen ExAC gnomAD
rs757519358 CA338940778	545	I>L		No	ClinGen gnomAD
rs757519358 CA19191265	545	I>V		No	ClinGen gnomAD
CA19191290 rs781521914	546	G>S		No	ClinGen TOPMed
rs1167996030 CA338940841	547	S>F		No	ClinGen TOPMed gnomAD
rs760460779 CA678728	548	S>L		No	ClinGen ExAC TOPMed gnomAD
CA678727 rs774794171	548	S>P		No	ClinGen ExAC gnomAD
rs776319824 CA678730	549	A>V		No	ClinGen ExAC gnomAD
CA338940883 rs144480560	550	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA678732 rs144480560	550	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs991894179 CA19191345	551	G>A		No	ClinGen TOPMed
CA19191359 rs1034627873	553	V>L		No	ClinGen Ensembl
CA338941007 rs1430266513	555	L>F		No	ClinGen gnomAD
CA19191364 rs772741001	555	L>P		No	ClinGen Ensembl
rs1435412228 CA338941053	556	I>M		No	ClinGen TOPMed gnomAD
CA678734 rs762890509	556	I>V		No	ClinGen ExAC gnomAD
rs199607174 CA678738	562	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777839383 CA678741	564	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338941385 rs1301156685	567	R>G		No	ClinGen gnomAD
CA338941656 rs1248584369	568	R>Q		No	ClinGen gnomAD
rs200219468 COSM1998823 CA678765 COSM1998824	568	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs769484630 CA678767	572	R>C		No	ClinGen ExAC gnomAD
CA678768 rs772642109	572	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1195612041 CA338941812	573	A>T		No	ClinGen Ensembl
rs146071874 CA19192107	575	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA678771 rs146071874 COSM3934555 COSM3934553	575	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375717760 CA19192128 COSM1251379	578	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1308309622 CA338941969	579	D>N		No	ClinGen gnomAD
rs1412469420 CA338942028	581	L>Q		No	ClinGen gnomAD
CA678775 rs760868935	582	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs753914148 CA678778	583	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1247714705 CA338942096	583	H>R		No	ClinGen gnomAD
rs1016048705 CA19192196	584	Y>C		No	ClinGen TOPMed gnomAD
rs931241476 CA19192222	587	G>S		No	ClinGen TOPMed gnomAD
rs758962722 CA678781	588	H>D		No	ClinGen ExAC gnomAD
CA678782 rs780632769	588	H>Q		No	ClinGen ExAC gnomAD
CA678784 rs747369297	589	M>L		No	ClinGen ExAC gnomAD
CA678783 rs747369297	589	M>V		No	ClinGen ExAC gnomAD
CA678804 rs756887162	591	P>S		No	ClinGen ExAC TOPMed gnomAD
CA19201279 rs772238884	592	G>S		No	ClinGen Ensembl
rs1384633685 CA338946614	595	I>V		No	ClinGen TOPMed gnomAD
CA338946695 rs1368925967	598	D>N		No	ClinGen TOPMed gnomAD
COSM1723967 COSM1723969 rs948491186 CA19201290	599	P>L	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs906968203 CA19201295	603	E>K		No	ClinGen TOPMed gnomAD
rs780062584 CA678808	605	P>A		No	ClinGen ExAC TOPMed gnomAD
CA678809 rs558302888	606	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA678811 rs776278539	608	A>V		No	ClinGen ExAC gnomAD
rs773475701 CA338947156	610	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773475701 CA678814	610	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770109876 COSM1205505 CA678813	610	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1425174126 CA338947158	611	E>K		No	ClinGen gnomAD
rs763150677 CA678815	613	A>T		No	ClinGen ExAC gnomAD
rs1156481803 CA338947379	617	D>G		No	ClinGen TOPMed gnomAD
rs766333596 CA338947392	618	I>F		No	ClinGen ExAC TOPMed gnomAD
CA678817 RCV000978430 rs200952273	618	I>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs766333596 CA678816	618	I>V		No	ClinGen ExAC TOPMed gnomAD
CA338947450 rs1392948771	619	S>F		No	ClinGen gnomAD
CA678818 rs149475426	620	C>R		No	ClinGen ESP ExAC gnomAD
CA678819 rs767980355	622	K>R		No	ClinGen ExAC gnomAD
CA678820 rs753050736	623	I>T		No	ClinGen ExAC gnomAD
rs756940384 CA678821	625	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA338947728 rs1306520370	627	I>F		No	ClinGen gnomAD
rs757935489 CA678824	628	G>E		No	ClinGen ExAC gnomAD
CA678823 COSM3377036 COSM3377038 rs750026662	628	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC
rs112384431 CA19201549	632	F>L		No	ClinGen Ensembl
CA338948067 rs1169792153	632	F>S		No	ClinGen TOPMed
rs201626283 CA678840	633	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1570466051 CA338948114	634	E>K		No	ClinGen Ensembl
CA678843 rs569960708	637	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs757928772 CA678844	643	P>A		No	ClinGen ExAC gnomAD
CA678846 rs751002092	644	G>C		No	ClinGen ExAC TOPMed gnomAD
CA338948392 rs1381291444	644	G>V		No	ClinGen gnomAD
rs754994261 CA678847	645	K>R		No	ClinGen ExAC gnomAD
CA678848 rs781301341	648	I>N		No	ClinGen ExAC TOPMed gnomAD
CA338948498 rs1320967724	648	I>V		No	ClinGen gnomAD
RCV000969133 rs142173175 CA678850 VAR_032855	650	V>A	prostate cancer [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775432247 CA19201601	651	A>V		No	ClinGen Ensembl
rs55927202 CA338948574	652	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1007510252 CA19201604	653	K>R		No	ClinGen Ensembl
rs202216139 CA19201621	657	S>L		No	ClinGen Ensembl
rs772138917 CA678856	658	G>C		No	ClinGen ExAC gnomAD
CA678858 rs761101394	660	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1172063792 CA338948922	664	R>C		No	ClinGen gnomAD
CA678860 rs776976214	664	R>H		No	ClinGen ExAC gnomAD
CA338948931 rs762707747	665	R>G		No	ClinGen ExAC gnomAD
rs534341737 CA678862	665	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA678861 rs762707747	665	R>W		No	ClinGen ExAC gnomAD
CA678864 COSM1687182 rs754481306 COSM1687184	670	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1466394350 CA338949029	671	A>T		No	ClinGen gnomAD
CA338949066 rs1365356903	673	I>T		No	ClinGen gnomAD
rs767071857 CA678865	673	I>V		No	ClinGen ExAC gnomAD
rs757754267 CA678867	678	D>E		No	ClinGen ExAC TOPMed gnomAD
rs28936395 CA338949163	678	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA678868 rs753541903	681	N>K		No	ClinGen ExAC TOPMed gnomAD
rs779022970 CA678870	682	V>I		No	ClinGen ExAC TOPMed gnomAD
CA19201640 rs959654720	683	I>N		No	ClinGen TOPMed gnomAD
CA19201642 rs959654720	683	I>T		No	ClinGen TOPMed gnomAD
rs969328738 CA19201654	684	H>R		No	ClinGen TOPMed
rs763859817 CA19201656	685	L>M		No	ClinGen ExAC TOPMed gnomAD
CA338950216 rs1191865394	689	V>G		No	ClinGen TOPMed gnomAD
rs372886782 CA678873	689	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA678874 rs747571749	691	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1570466393 CA338950284	691	K>N		No	ClinGen Ensembl
rs1427054038 CA338950544	700	E>K		No	ClinGen gnomAD
rs777029414 CA678876	700	E>V		No	ClinGen ExAC gnomAD
CA338950573 rs1412477060	701	F>I		No	ClinGen gnomAD
CA678877 rs762109849	702	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1487133708 CA338950632 COSM1718755 COSM1718757	703	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1454961505 CA338950714	704	N>S		No	ClinGen gnomAD
CA338950750 rs1161108035	705	G>D		No	ClinGen gnomAD
COSM1687185 rs1323321999 CA338950864 COSM1687187	709	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1257690796 CA338950898	711	L>I		No	ClinGen TOPMed
CA338950957 rs150002185	712	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA678880 rs150002185	712	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA678879 rs375886598	712	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA338951318 rs751896309	715	D>N		No	ClinGen TOPMed
CA19202085 rs751896309	715	D>Y		No	ClinGen TOPMed
rs1252348957 CA338951348	716	G>R		No	ClinGen gnomAD
rs1473430443 CA338951362	716	G>V		No	ClinGen gnomAD
rs773617571 CA678897	718	F>L		No	ClinGen ExAC gnomAD
CA338951486 rs1451810268	721	I>V		No	ClinGen TOPMed
CA19202105 rs1018379423	724	V>L		No	ClinGen TOPMed gnomAD
rs1368101104 CA338951606	725	G>C		No	ClinGen gnomAD
CA678899 rs771816281	728	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338951722 rs1428775058	728	R>W		No	ClinGen gnomAD
rs142161660 CA678901 COSM1584185	731	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1312406683 CA338951870	735	K>R		No	ClinGen gnomAD
rs761749948 CA19202123	745	R>G		No	ClinGen ExAC TOPMed gnomAD
CA338952241 rs1277014809	749	A>S		No	ClinGen gnomAD
CA678906 rs750228061	749	A>V		No	ClinGen ExAC gnomAD
CA338952272 rs1325727933	750	R>H		No	ClinGen TOPMed
rs1198551980 CA338952307	751	N>S		No	ClinGen gnomAD
CA678907 rs758669097	752	I>V		No	ClinGen ExAC gnomAD
CA678910 rs201892962	754	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1016662258 CA19202135	755	N>S		No	ClinGen gnomAD
CA338952441 rs1372053495	756	S>G		No	ClinGen TOPMed gnomAD
CA678912 rs748663703	756	S>N		No	ClinGen ExAC gnomAD
CA678914 rs778043794	759	V>A		No	ClinGen ExAC gnomAD
CA19202151 rs201156841	759	V>I		No	ClinGen Ensembl
CA678915 rs749643372	761	K>R		No	ClinGen ExAC gnomAD
rs1319090631 CA338952613	763	S>W		No	ClinGen gnomAD
CA338952668 rs1299870308	765	F>V		No	ClinGen gnomAD
rs367548936 CA678918	769	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA338952798 rs1490098691	769	R>H		No	ClinGen TOPMed
rs746591241 CA678919	770	F>S		No	ClinGen ExAC gnomAD
rs761721854 CA678922	773	D>N		No	ClinGen ExAC gnomAD
CA678924 rs527440163	774	D>N		No	ClinGen ExAC TOPMed gnomAD
CA19202167 rs954547321	775	T>I		No	ClinGen Ensembl
rs762768940 CA678925	777	D>A		No	ClinGen ExAC gnomAD
rs1431151666 CA338953043	778	P>H		No	ClinGen gnomAD
CA338953049 rs1431151666	778	P>R		No	ClinGen gnomAD
rs1174905857 CA338953056	779	T>A		No	ClinGen TOPMed gnomAD
rs754408035 CA678951	787	K>E		No	ClinGen ExAC gnomAD
CA338953903 rs1341243574	787	K>N		No	ClinGen gnomAD
rs754408035 CA19202472	787	K>Q		No	ClinGen ExAC gnomAD
rs1570469290 CA338953912	788	I>T		No	ClinGen Ensembl
rs369660719 CA678953	791	R>C		No	ClinGen ESP ExAC gnomAD
COSM1290139 rs750785637 CA678954	791	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA678955 rs750785637	791	R>L		No	ClinGen ExAC gnomAD
rs1460220867 CA338953975	792	W>*		No	ClinGen TOPMed
rs1039363543 CA19202503	793	T>I		No	ClinGen gnomAD
rs1185038656 CA338954036	794	A>D		No	ClinGen TOPMed gnomAD
rs1185038656 CA338954040	794	A>V		No	ClinGen TOPMed gnomAD
CA678956 rs372696024	795	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA678958 rs376209284	801	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428134400 CA338954322	803	F>Y		No	ClinGen gnomAD
COSM1241129 CA338954383 rs1281028518	805	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs770827827 CA678961	805	S>T		No	ClinGen ExAC gnomAD
rs1281028518 CA338954387	805	S>W		No	ClinGen TOPMed gnomAD
rs1227619656 CA338954407	806	A>D		No	ClinGen gnomAD
CA338954394 rs1401298324	806	A>T		No	ClinGen TOPMed
rs759393577 CA678963	809	V>A		No	ClinGen ExAC gnomAD
CA19202517 rs376515026	809	V>M		No	ClinGen ESP TOPMed
rs1570469416 CA338954538	810	W>R		No	ClinGen Ensembl
rs771721259 CA678964	812	Y>C		No	ClinGen ExAC gnomAD
rs1278019324 CA338954653	814	I>T		No	ClinGen TOPMed
CA19202532 rs547041098	816	M>I		No	ClinGen gnomAD
CA678967 rs764325627	816	M>T		No	ClinGen ExAC gnomAD
CA338954789 rs1372617391	818	E>Q		No	ClinGen TOPMed
rs1219908154 CA338954847	819	V>E		No	ClinGen TOPMed
CA678969 rs762449653	820	M>I		No	ClinGen ExAC gnomAD
CA19202534 rs1010004400	822	Y>C		No	ClinGen Ensembl
rs765817197 CA678970	824	E>G		No	ClinGen ExAC TOPMed gnomAD
rs758794865 CA678972	825	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA678971 rs750920618	825	R>W		No	ClinGen ExAC
rs752455041 CA678974	826	P>S		No	ClinGen ExAC gnomAD
CA338955015 rs1570469515	827	Y>*		No	ClinGen Ensembl
CA338955353 rs1365283999	835	V>A		No	ClinGen gnomAD
CA678989 rs773783424	835	V>I		No	ClinGen ExAC gnomAD
CA338955362 rs1272693410	836	I>V		No	ClinGen gnomAD
CA19203124 rs958570993	837	N>S		No	ClinGen gnomAD
CA678990 rs763357873	838	A>T		No	ClinGen ExAC gnomAD
rs1265310750 CA338955463	840	E>D		No	ClinGen gnomAD
CA338955498 rs1570471217	842	D>A		No	ClinGen Ensembl
rs140172215 CA678992	843	Y>C		No	ClinGen ESP ExAC gnomAD
CA678991 rs766835462	843	Y>H		No	ClinGen ExAC gnomAD
CA678993 rs755816176	844	R>Q		No	ClinGen ExAC gnomAD
CA19203153 rs55826626 VAR_042175	844	R>W		No	ClinGen UniProt dbSNP gnomAD
rs763762613 CA678994	846	P>A		No	ClinGen ExAC gnomAD
CA678995 rs753443717	847	P>L		No	ClinGen ExAC gnomAD
rs376945636 CA19203182	848	P>R		No	ClinGen Ensembl
rs1570471269 CA338955605	849	M>L		No	ClinGen Ensembl
rs778333741 CA678997	851	C>Y		No	ClinGen ExAC gnomAD
rs758261769 CA338955695	852	P>L		No	ClinGen ExAC gnomAD
rs758261769 CA678999	852	P>R		No	ClinGen ExAC gnomAD
rs746756760 CA679001	853	S>G		No	ClinGen ExAC gnomAD
rs549199396 CA679003	854	A>T		No	ClinGen ExAC TOPMed gnomAD
CA679004 rs759404153	858	L>H		No	ClinGen ExAC TOPMed gnomAD
rs759404153 CA19203211	858	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1285652571 CA338955864	861	D>G		No	ClinGen gnomAD
rs1557752777 CA338955945	865	K>T		No	ClinGen Ensembl
rs1570471360 CA338955974	866	D>A		No	ClinGen Ensembl
CA338955991 rs1349014912	867	R>G		No	ClinGen gnomAD
rs1228368009 CA338955994	867	R>H		No	ClinGen gnomAD
rs1269301824 CA338956015	868	N>S		No	ClinGen gnomAD
rs1208166889 CA338956058	870	R>Q		No	ClinGen gnomAD
rs1353409966 CA338956055	870	R>W		No	ClinGen gnomAD
CA679007 rs763557854	871	P>L		No	ClinGen ExAC gnomAD
rs1040639398 CA19203222	872	K>R		No	ClinGen Ensembl
CA679008 rs201327859	873	F>I		No	ClinGen 1000Genomes ExAC
COSM1646078 COSM1646077 CA679009 rs774876763	874	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs143865228 CA19203238	875	Q>R		No	ClinGen ESP TOPMed gnomAD
CA679011 rs767807199 COSM1340171	879	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA679012 rs753505053	879	T>M		No	ClinGen ExAC gnomAD
CA19203253 rs753505053	879	T>R		No	ClinGen ExAC gnomAD
CA338956368 rs1369979172	882	K>N		No	ClinGen TOPMed
CA679016 rs372653137 VAR_032857	883	M>V	prostate cancer [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA679017 rs779879050	885	R>C		No	ClinGen ExAC
CA679018 rs746925117	885	R>H		No	ClinGen ExAC gnomAD
CA679019 rs754833389	886	N>H		No	ClinGen ExAC TOPMed gnomAD
CA679020 rs781119493	886	N>I		No	ClinGen ExAC gnomAD
CA338956488 rs1344212870	888	N>S		No	ClinGen TOPMed
rs1338056435 COSM1473614 CA338956501	889	S>G	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1436199887 CA338956590	893	M>L		No	ClinGen TOPMed
rs1557752949 CA338956616	894	A>V		No	ClinGen Ensembl
CA679023 rs773386960	896	L>H		No	ClinGen ExAC TOPMed gnomAD
rs770107666 CA679022	896	L>I		No	ClinGen ExAC gnomAD
rs1482826393 CA338956674	897	S>F		No	ClinGen gnomAD
CA19203274 rs766876667	899	G>S		No	ClinGen Ensembl
CA679063 rs761052115	901	N>T		No	ClinGen ExAC gnomAD
rs539189543 CA679065	903	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA338957527 rs1431497843	906	D>H		No	ClinGen TOPMed
rs765871452 CA679067	907	R>C		No	ClinGen ExAC gnomAD
rs751080829 CA679068	907	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751080829 CA338957536	907	R>L		No	ClinGen ExAC TOPMed gnomAD
rs751080829 CA338957537	907	R>P		No	ClinGen ExAC TOPMed gnomAD
CA679069 rs759593517	908	T>A		No	ClinGen ExAC TOPMed
rs370710705 CA679071	908	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA679070 rs370710705	908	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA338957538 rs759593517	908	T>P		No	ClinGen ExAC TOPMed
rs1365133140 CA338957559	911	D>E		No	ClinGen TOPMed
rs1294914761 CA338957557	911	D>G		No	ClinGen TOPMed
CA19204104 rs1005666207	911	D>N		No	ClinGen TOPMed gnomAD
rs757499446 CA679075	913	T>I		No	ClinGen ExAC gnomAD
rs1233119743 CA338957577	914	S>N		No	ClinGen TOPMed
rs779006437 CA679076	914	S>R		No	ClinGen ExAC gnomAD
CA338957585 rs1175991995	915	F>S		No	ClinGen gnomAD
rs1386374791 CA338957598	917	T>A		No	ClinGen gnomAD
rs772092699 CA338957600	917	T>K		No	ClinGen ExAC TOPMed gnomAD
rs772092699 CA679078	917	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772092699 CA338957601	917	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1471157491 CA338957602	918	V>M		No	ClinGen gnomAD
CA679082 rs777048986	920	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1193254553 CA338957642	923	E>D		No	ClinGen TOPMed
CA679085 rs774094735	923	E>G		No	ClinGen ExAC gnomAD
rs1054792 CA19204112	923	E>K		No	ClinGen Ensembl
rs759144921 CA679086	924	A>G		No	ClinGen ExAC gnomAD
CA338957649 rs1248667450	925	I>F		No	ClinGen TOPMed
rs767065635 CA679087	926	K>R		No	ClinGen ExAC gnomAD
CA338957669 rs1167223107	927	M>I		No	ClinGen TOPMed
CA338957675 rs1411916869	928	G>E		No	ClinGen gnomAD
CA679088 rs141672966	928	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA679089 rs760652225	929	Q>R		No	ClinGen ExAC gnomAD
CA338957694 rs1406319873	931	K>T		No	ClinGen TOPMed
rs763866286 CA679090	933	S>I		No	ClinGen ExAC gnomAD
CA679092 rs757472320	935	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750605092 CA679094	938	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1570474556 CA338957754	940	T>P		No	ClinGen Ensembl
rs955531193 CA19204148	940	T>S		No	ClinGen Ensembl
CA338957797 rs1372538748	943	D>G		No	ClinGen gnomAD
CA679095 rs758478096	943	D>N		No	ClinGen ExAC gnomAD
COSM1340175 CA679097 rs78707665	944	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA679099 rs781457963	945	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338957817 rs781457963	945	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338957857 rs1490727293	948	M>V		No	ClinGen gnomAD
CA19204170 rs540876485	951	E>A		No	ClinGen 1000Genomes
CA679100 rs748566440	951	E>K		No	ClinGen ExAC gnomAD
CA338958572 rs1269209610	953	I>F		No	ClinGen gnomAD
rs1216691886 CA338958591	954	L>R		No	ClinGen gnomAD
rs200208409 CA338958602	955	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200208409 CA679119	955	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA679118 rs748534693	955	R>W		No	ClinGen ExAC TOPMed gnomAD
rs745586774 CA679121	959	T>I		No	ClinGen ExAC
CA19204563 rs770498078	969	N>K		No	ClinGen Ensembl
rs771822788 CA679122	970	S>G		No	ClinGen ExAC gnomAD
CA338958816 rs1192499328	971	I>T		No	ClinGen gnomAD
rs369377482 CA679124	972	Q>H		No	ClinGen ESP ExAC gnomAD
rs768013471 CA679125	973	V>M		No	ClinGen ExAC gnomAD
rs776637249 CA679126	974	M>V		No	ClinGen ExAC gnomAD
CA679127 rs372681830	975	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142146570 CA679129	975	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA679128 rs372681830	975	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA19204571 rs1030955500	976	A>E		No	ClinGen TOPMed gnomAD
rs763211060 CA679130	976	A>T		No	ClinGen ExAC gnomAD
CA19204574 rs1030955500	976	A>V		No	ClinGen TOPMed gnomAD
rs1345430676 CA338958946	984	V>L		No	ClinGen gnomAD
CA679165 rs777690887	986	G>A		No	ClinGen ExAC gnomAD
CA338958980 rs1180957843	986	G>S		No	ClinGen gnomAD
CA679166 rs749162914	988	P>S		No	ClinGen ExAC TOPMed gnomAD
CA679169 rs368971406	990	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338959011 rs1384225977	991	R>K		No	ClinGen TOPMed gnomAD
CA338959016 rs1416162450	992	R>G		No	ClinGen TOPMed
rs746146203 CA338959018	992	R>K		No	ClinGen ExAC TOPMed gnomAD
CA679171 rs746146203	992	R>T		No	ClinGen ExAC TOPMed gnomAD
CA338959024 rs1391364987	993	P>S		No	ClinGen gnomAD
CA679174 rs775808448	994	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA679172 rs574015572	994	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA679175 rs765589824	996	T>M		No	ClinGen ExAC TOPMed gnomAD
CA338959043 rs1314397273	997	G>R		No	ClinGen gnomAD
rs1248436190 CA338959066	1000	K>M		No	ClinGen gnomAD
rs765701210 CA679179	1001	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762214115 CA679178	1001	R>W		No	ClinGen ExAC TOPMed gnomAD
CA679180 rs750730184	1002	C>R		No	ClinGen ExAC gnomAD
rs750730184 CA679181	1002	C>S		No	ClinGen ExAC gnomAD
rs1439420793 CA338959087	1004	P>S		No	ClinGen gnomAD
rs375096051 CA679183	1005	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA679184 rs755631924	1005	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA679185 rs777249772	1006	D>G		No	ClinGen ExAC
CA19204695 rs983936477	1006	D>N		No	ClinGen TOPMed gnomAD
CA338959104 rs749285634	1007	V>A		No	ClinGen ExAC gnomAD
CA679186 rs749285634	1007	V>D		No	ClinGen ExAC gnomAD
CA338959103 rs1185020740	1007	V>I		No	ClinGen gnomAD
CA338959111 rs1461820125	1008	T>I		No	ClinGen gnomAD
CA338959131 rs1399268795	1011	T>K		No	ClinGen gnomAD
CA338959138 rs1383571170	1012	C>*		No	ClinGen gnomAD
rs778821289 CA679188	1012	C>R		No	ClinGen ExAC gnomAD
rs745677573 CA679189	1012	C>Y		No	ClinGen ExAC gnomAD
CA338959141 rs775772189	1013	N>D		No	ClinGen gnomAD
CA19204720 rs775772189	1013	N>H		No	ClinGen gnomAD
CA338959159 rs771863033	1015	N>K		No	ClinGen ExAC TOPMed gnomAD
CA19204739 rs763473046	1016	D>E		No	ClinGen ExAC TOPMed gnomAD
CA679191 rs377206396	1016	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557755755 CA338959169	1017	G>E		No	ClinGen Ensembl
CA679193 rs188399389	1017	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1570476556 CA338959176	1018	K>R		No	ClinGen Ensembl
rs76826147 CA679198	1019	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA679199 rs763230111	1020	K>E		No	ClinGen ExAC gnomAD
CA338959228 rs1259274309	1025	K>N		No	ClinGen gnomAD
CA338959227 rs1184855993	1025	K>R		No	ClinGen gnomAD
rs913336309 CA19204790	1029	P>T		No	ClinGen TOPMed
CA338959261 rs1171718350	1030	G>A		No	ClinGen TOPMed
CA338959264 rs1557755853	1031	R>W		No	ClinGen Ensembl
CA19204804 rs866717965	1032	G>E		No	ClinGen Ensembl
rs1479764474 CA338959270	1032	G>R		No	ClinGen TOPMed gnomAD
rs369027672 CA679203	1033	R>Q		No	ClinGen ESP ExAC gnomAD
rs563585033 CA679202	1033	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338959295 rs1287122775	1036	Q>*		No	ClinGen gnomAD
CA19204812 rs1024809151	1038	I>L		No	ClinGen TOPMed
rs1553178548 CA679206	1038	I>M		No	ClinGen Ensembl
rs756746557 CA679209	1045	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA19204830 rs867465635	1047	E>K		No	ClinGen gnomAD
CA679211 rs549094331	1048	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338959384 rs1324139542	1048	S>T		No	ClinGen gnomAD
rs180810246 CA679212	1049	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747302640 CA679214	1051	C>W		No	ClinGen ExAC gnomAD
rs372635662 CA679213	1051	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA338959419 rs1489967443	1053	C>F		No	ClinGen gnomAD
rs781515547 CA679216	1054	G>R		No	ClinGen ExAC TOPMed gnomAD
CA19204842 rs918936702	1055	G>E		No	ClinGen gnomAD
rs895436784 CA19204846	1056	G>Y		No	ClinGen TOPMed

2 associated diseases with P29323

[MIM: 176807]: Prostate cancer (PC)

A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:15300251, ECO:0000269|PubMed:16155194}. Note=The gene represented in this entry may be involved in disease pathogenesis. EPHB2 mutations have been found in a prostate cancer cell line derived from a brain metastasis.

[MIM: 618462]: Bleeding disorder, platelet-type, 22 (BDPLT22)

An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia. {ECO:0000269|PubMed:30213874}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:15300251, ECO:0000269|PubMed:16155194}. Note=The gene represented in this entry may be involved in disease pathogenesis. EPHB2 mutations have been found in a prostate cancer cell line derived from a brain metastasis.
An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia. {ECO:0000269|PubMed:30213874}. Note=The disease may be caused by variants affecting the gene represented in this entry.

14 regional properties for P29323

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	621 - 884	IPR000719
domain	Ephrin receptor ligand binding domain	20 - 202	IPR001090
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	622 - 880	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	178 - 198	IPR001426-1
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	241 - 261	IPR001426-2
domain	Sterile alpha motif domain	910 - 977	IPR001660
domain	Fibronectin type III	324 - 434	IPR003961-1
domain	Fibronectin type III	435 - 530	IPR003961-2
active_site	Tyrosine-protein kinase, active site	742 - 754	IPR008266
domain	Tyrosine-protein kinase ephrin type A/B receptor-like	268 - 302	IPR011641
binding_site	Protein kinase, ATP binding site	627 - 653	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	621 - 880	IPR020635
domain	Ephrin receptor, transmembrane domain	544 - 617	IPR027936
domain	Ephrin type-B receptor 2, ligand binding domain	19 - 196	IPR034238

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane; Single-pass type I membrane protein Cell projection, axon Cell projection, dendrite
PANTHER Family	PTHR46877	EPH RECEPTOR A5
PANTHER Subfamily	PTHR46877:SF11	EPHRIN TYPE-B RECEPTOR 2
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	PDGF signaling pathway PDGF receptor B Angiogenesis EphR

17 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cell surface	The external part of the cell wall and/or plasma membrane.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
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.
integral component of postsynaptic membrane	The component of the postsynaptic 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.
integral component of presynaptic membrane	The component of the presynaptic 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.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse	The part of a synapse that is part of the post-synaptic cell.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

10 GO annotations of molecular function

Name	Definition
amyloid-beta binding	Binding to an amyloid-beta peptide/protein.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
axon guidance receptor activity	Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance.
identical protein binding	Binding to an identical protein or proteins.
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.
protein-containing complex binding	Binding to a macromolecular complex.
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.
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.

58 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
axonal fasciculation	The collection of axons into a bundle of rods, known as a fascicle.
B cell activation	The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
camera-type eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.
cellular response to amyloid-beta	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a amyloid-beta stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
central nervous system projection neuron axonogenesis	Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region.
commissural neuron axon guidance	The process in which the migration of an axon growth cone of a commissural neuron is directed to its target in the brain in response to a combination of attractive and repulsive cues.
corpus callosum development	The process whose specific outcome is the progression of the corpus callosum over time, from its formation to the mature structure. The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provide communication between the right and left cerebral hemispheres.
dendritic spine development	The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
dendritic spine morphogenesis	The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
ephrin receptor signaling pathway	The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
hindbrain tangential cell migration	The migration of a cell in the hindbrain in which cells move orthogonal to the direction of radial migration.
inner ear morphogenesis	The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
negative regulation of axonogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of NMDA glutamate receptor activity	Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity.
negative regulation of protein kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
negative regulation of Ras protein signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuron projection retraction	The organization process which results in the disassembly (either partial or complete) of constituent parts of a neuron projection. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
optic nerve morphogenesis	The process in which the anatomical structure of the optic nerve is generated and organized. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of B cell proliferation	Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of dendritic spine morphogenesis	Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of immunoglobulin production	Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.
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 long-term neuronal synaptic plasticity	A process that increases long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
positive regulation of long-term synaptic potentiation	Any process that activates or increases the frequency, rate or extent of long-term synaptic potentiation.
positive regulation of NMDA glutamate receptor activity	Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity.
positive regulation of protein localization to plasma membrane	Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
positive regulation of synapse assembly	Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
positive regulation of synaptic plasticity	A process that increases synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
postsynaptic membrane assembly	The aggregation, arrangement and bonding together of a set of components to form a postsynaptic membrane, a specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft).
regulation of behavioral fear response	Any process that modulates the frequency, rate or extent of behavioral fear response.
regulation of blood coagulation	Any process that modulates the frequency, rate or extent of blood coagulation.
regulation of body fluid levels	Any process that modulates the levels of body fluids.
regulation of filopodium assembly	Any process that modulates the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
regulation of neuronal synaptic plasticity	A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of receptor signaling pathway via JAK-STAT	Any process that modulates the frequency, rate or extent of receptor signaling via JAK-STAT.
regulation of T-helper 17 type immune response	Any process that modulates the frequency, rate or extent of T-helper 17 type immune response.
retinal ganglion cell axon guidance	The process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.
tight junction assembly	A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a tight junction. A tight junction seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other.
trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission	Cell-cell signaling between presynapse and postsynapse, mediated by transynaptic protein complexes, that modulates the synaptic transmission properties of the synapse.
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.
urogenital system development	The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure.
vesicle-mediated intercellular transport	A cellular transport process in which transported substances are moved in extracellular vesicles between cells; transported substances are enclosed in the vesicle lumen or located in the extracellular vesicle membrane.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07496	EPHA4	Ephrin type-A receptor 4	Gallus gallus (Chicken)	SS
Q07494	EPHB1	Ephrin type-B receptor 1	Gallus gallus (Chicken)	SS
P29318	EPHA3	Ephrin type-A receptor 3	Gallus gallus (Chicken)	SS
O42422	EPHA7	Ephrin type-A receptor 7	Gallus gallus (Chicken)	SS
P54755	EPHA5	Ephrin type-A receptor 5	Gallus gallus (Chicken)	SS
Q07498	EPHB3	Ephrin type-B receptor 3	Gallus gallus (Chicken)	SS
Q07497	EPHB5	Ephrin type-B receptor 5	Gallus gallus (Chicken)	PR
P28693	EPHB2	Ephrin type-B receptor 2	Gallus gallus (Chicken)	PR
P0C0K6	EPHB6	Ephrin type-B receptor 6	Pan troglodytes (Chimpanzee)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
Q15375	EPHA7	Ephrin type-A receptor 7	Homo sapiens (Human)	SS
P54756	EPHA5	Ephrin type-A receptor 5	Homo sapiens (Human)	SS
Q9UF33	EPHA6	Ephrin type-A receptor 6	Homo sapiens (Human)	SS
P54762	EPHB1	Ephrin type-B receptor 1	Homo sapiens (Human)	SS
P29322	EPHA8	Ephrin type-A receptor 8	Homo sapiens (Human)	SS
P29320	EPHA3	Ephrin type-A receptor 3	Homo sapiens (Human)	PR
P54764	EPHA4	Ephrin type-A receptor 4	Homo sapiens (Human)	SS
P54753	EPHB3	Ephrin type-B receptor 3	Homo sapiens (Human)	SS
Q5JZY3	EPHA10	Ephrin type-A receptor 10	Homo sapiens (Human)	SS
O15197	EPHB6	Ephrin type-B receptor 6	Homo sapiens (Human)	SS
P54754	Ephb3	Ephrin type-B receptor 3	Mus musculus (Mouse)	SS
Q03145	Epha2	Ephrin type-A receptor 2	Mus musculus (Mouse)	PR
Q03137	Epha4	Ephrin type-A receptor 4	Mus musculus (Mouse)	SS
Q61772	Epha7	Ephrin type-A receptor 7	Mus musculus (Mouse)	SS
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	Mus musculus (Mouse)	SS
Q8BYG9	Epha10	Ephrin type-A receptor 10	Mus musculus (Mouse)	SS
Q60629	Epha5	Ephrin type-A receptor 5	Mus musculus (Mouse)	SS
P29319	Epha3	Ephrin type-A receptor 3	Mus musculus (Mouse)	SS
Q62413	Epha6	Ephrin type-A receptor 6	Mus musculus (Mouse)	SS
Q60750	Epha1	Ephrin type-A receptor 1	Mus musculus (Mouse)	SS
P54761	Ephb4	Ephrin type-B receptor 4	Mus musculus (Mouse)	PR
O08644	Ephb6	Ephrin type-B receptor 6	Mus musculus (Mouse)	PR
P54763	Ephb2	Ephrin type-B receptor 2	Mus musculus (Mouse)	SS
P54757	Epha5	Ephrin type-A receptor 5	Rattus norvegicus (Rat)	SS
P54759	Epha7	Ephrin type-A receptor 7	Rattus norvegicus (Rat)	SS
P09759	Ephb1	Ephrin type-B receptor 1	Rattus norvegicus (Rat)	SS
P0C0K7	Ephb6	Ephrin type-B receptor 6	Rattus norvegicus (Rat)	SS
O08680	Epha3	Ephrin type-A receptor 3	Rattus norvegicus (Rat)	SS
O61460	vab-1	Ephrin receptor 1	Caenorhabditis elegans	SS
Q8RWZ5	SD25	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94AG2	SERK1	Somatic embryogenesis receptor kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E991	PRK6	Pollen receptor-like kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXF2	RKF1	Probable LRR receptor-like serine/threonine-protein kinase RFK1	Arabidopsis thaliana (Mouse-ear cress)	PR
O13147	ephb3	Ephrin type-B receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73878	ephb4b	Ephrin type-B receptor 4b	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O13146	epha3	Ephrin type-A receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MALRRLGAAL	LLLPLLAAVE	ETLMDSTTAT	AELGWMVHPP	SGWEEVSGYD	ENMNTIRTYQ
70	80	90	100	110	120
VCNVFESSQN	NWLRTKFIRR	RGAHRIHVEM	KFSVRDCSSI	PSVPGSCKET	FNLYYYEADF
130	140	150	160	170	180
DSATKTFPNW	MENPWVKVDT	IAADESFSQV	DLGGRVMKIN	TEVRSFGPVS	RSGFYLAFQD
190	200	210	220	230	240
YGGCMSLIAV	RVFYRKCPRI	IQNGAIFQET	LSGAESTSLV	AARGSCIANA	EEVDVPIKLY
250	260	270	280	290	300
CNGDGEWLVP	IGRCMCKAGF	EAVENGTVCR	GCPSGTFKAN	QGDEACTHCP	INSRTTSEGA
310	320	330	340	350	360
TNCVCRNGYY	RADLDPLDMP	CTTIPSAPQA	VISSVNETSL	MLEWTPPRDS	GGREDLVYNI
370	380	390	400	410	420
ICKSCGSGRG	ACTRCGDNVQ	YAPRQLGLTE	PRIYISDLLA	HTQYTFEIQA	VNGVTDQSPF
430	440	450	460	470	480
SPQFASVNIT	TNQAAPSAVS	IMHQVSRTVD	SITLSWSQPD	QPNGVILDYE	LQYYEKELSE
490	500	510	520	530	540
YNATAIKSPT	NTVTVQGLKA	GAIYVFQVRA	RTVAGYGRYS	GKMYFQTMTE	AEYQTSIQEK
550	560	570	580	590	600
LPLIIGSSAA	GLVFLIAVVV	IAIVCNRRGF	ERADSEYTDK	LQHYTSGHMT	PGMKIYIDPF
610	620	630	640	650	660
TYEDPNEAVR	EFAKEIDISC	VKIEQVIGAG	EFGEVCSGHL	KLPGKREIFV	AIKTLKSGYT
670	680	690	700	710	720
EKQRRDFLSE	ASIMGQFDHP	NVIHLEGVVT	KSTPVMIITE	FMENGSLDSF	LRQNDGQFTV
730	740	750	760	770	780
IQLVGMLRGI	AAGMKYLADM	NYVHRDLAAR	NILVNSNLVC	KVSDFGLSRF	LEDDTSDPTY
790	800	810	820	830	840
TSALGGKIPI	RWTAPEAIQY	RKFTSASDVW	SYGIVMWEVM	SYGERPYWDM	TNQDVINAIE
850	860	870	880	890	900
QDYRLPPPMD	CPSALHQLML	DCWQKDRNHR	PKFGQIVNTL	DKMIRNPNSL	KAMAPLSSGI
910	920	930	940	950	960
NLPLLDRTIP	DYTSFNTVDE	WLEAIKMGQY	KESFANAGFT	SFDVVSQMMM	EDILRVGVTL
970	980	990	1000	1010	1020
AGHQKKILNS	IQVMRAQMNQ	IQSVEGQPLA	RRPRATGRTK	RCQPRDVTKK	TCNSNDGKKK
1030	1040	1050
GMGKKKTDPG	RGREIQGIFF	KEDSHKESND	CSCGG