AiPD: Autoinhibited Protein Database

Q16625

Gene name	OCLN
Protein name	Occludin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:100506658
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

4 structures for Q16625

Entry ID	Method	Resolution	Chain	Position	Source
1WPA	X-ray	150 A	A	413-522	PDB
1XAW	X-ray	145 A	A	383-522	PDB
3G7C	X-ray	200 A	A	416-522	PDB
AF-Q16625-F1	Predicted				AlphaFoldDB

414 variants for Q16625

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000146972 CA213250 rs113706384	2	S>P	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs147125035 RCV000146974 RCV002478408 CA172888 RCV002055910	24	P>A	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3294374 RCV001330739 rs373915080	36	R>*	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1561334604 RCV000007142	57	K>missing	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001268371 rs797045841 RCV000192882	58	W>missing	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000201608 rs863225128	85	S>missing	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000146971 CA213248 RCV000425727 rs28562785 RCV002055909	151	A>V	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749237456 CA120712493 RCV000007143	171	Y>*	Pseudo-TORCH syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000162145 rs730882227	172	Y>missing	Global developmental delay [ClinVar]	Yes	ClinVar dbSNP
RCV000007144 CA213150 rs267606926 VAR_064910	219	F>S	Pseudo-TORCH syndrome 1 PTORCH1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1032322032 CA120711970	4	R>S		No	ClinGen Ensembl
rs576636804 CA3294349	7	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1580547770 RCV001008859	8	S>missing		No	ClinVar dbSNP
rs139272416 CA3294350	8	S>N		No	ClinGen ESP ExAC gnomAD
CA3294351 rs757558128	9	P>S		No	ClinGen ExAC gnomAD
rs761271718 CA3294352	10	P>S		No	ClinGen ExAC gnomAD
CA360072724 rs1159846573	12	Y>C		No	ClinGen TOPMed
rs1173899448 CA360072790	14	P>L		No	ClinGen gnomAD
rs1454090118 CA360072771	14	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1289762967 CA360072794	15	D>N		No	ClinGen gnomAD
CA360075240 rs1397330127	19	P>A		No	ClinGen TOPMed
CA3294368 rs368281009	19	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368281009 CA3294367	19	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA360075277 rs1372191602	20	N>K		No	ClinGen TOPMed
CA360075336 rs1424253323	22	Y>*		No	ClinGen TOPMed
CA360075327 rs1295888643	22	Y>C		No	ClinGen gnomAD
rs761061240 CA3294370	23	A>E		No	ClinGen ExAC gnomAD
rs1372195617 CA360075341	23	A>P		No	ClinGen gnomAD
CA360075386 rs1321131368	25	S>N		No	ClinGen gnomAD
rs776567486 CA3294371	26	N>K		No	ClinGen ExAC gnomAD
rs759591993 CA3294372	29	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	29	Y>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325520008 CA360075506	30	G>D		No	ClinGen gnomAD
CA360075515 rs890382090	31	G>*		No	ClinGen TOPMed
CA120712470 rs890382090	31	G>R		No	ClinGen TOPMed
CA360075553 rs1212368787	32	E>D		No	ClinGen gnomAD
rs765418762 CA3294373	34	H>D		No	ClinGen ExAC gnomAD
CA360075612 rs1177978281	36	R>Q		No	ClinGen TOPMed gnomAD
CA360075623 rs1479659926	37	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	37	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201821077 CA3294376	38	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430628172 CA360075650	39	L>F		No	ClinGen gnomAD
CA3294377 rs750291439	39	L>R		No	ClinGen ExAC gnomAD
CA3294380 rs753732841	41	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs778423540 CA3294382	45	S>A		No	ClinGen ExAC TOPMed gnomAD
CA360075741 rs1343177731	46	F>S		No	ClinGen gnomAD
CA3294383 rs747765035	48	P>S		No	ClinGen ExAC gnomAD
TCGA novel	48	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360075807 rs1212710060	51	E>Q		No	ClinGen gnomAD
rs773552792 CA3294385	54	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA360075847 rs1321815492	54	H>Y		No	ClinGen TOPMed
rs1306982956 CA360075867	55	F>L		No	ClinGen gnomAD
rs977828597 CA120712471	56	Y>*		No	ClinGen Ensembl
CA3294386 rs756837651	58	W>*		No	ClinGen ExAC TOPMed gnomAD
rs756837651 CA360075915	58	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1205575149 CA360075905	58	W>R		No	ClinGen TOPMed gnomAD
rs765022975 CA120712473	59	T>I		No	ClinGen gnomAD
rs765022975 CA360075929	59	T>N		No	ClinGen gnomAD
rs552617487 CA3294387	59	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs765022975 CA120712472	59	T>S		No	ClinGen gnomAD
rs200344104 CA3294390	60	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA360075964 rs1418251604	61	P>S		No	ClinGen gnomAD
rs769965483 CA3294391	62	P>A		No	ClinGen ExAC gnomAD
rs763255573 CA3294394	65	I>M		No	ClinGen ExAC gnomAD
rs764482939 CA3294395	66	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000194097 CA208038 RCV001563429 rs116363086	66	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA120712474 rs764482939	66	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766112658 CA3294397	67	I>F		No	ClinGen ExAC gnomAD
rs754945778 CA3294399	69	S>T		No	ClinGen ExAC gnomAD
CA3294402 rs752257694	70	M>T		No	ClinGen ExAC gnomAD
CA3294401 COSM1620495 rs778368708	70	M>V	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA360076121 rs758041884 COSM1728141	71	L>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs758041884 CA3294403	71	L>I		No	ClinGen ExAC TOPMed
CA3294404 rs777417364	71	L>P		No	ClinGen ExAC gnomAD
rs771276299 CA360076139	72	I>S		No	ClinGen ExAC gnomAD
CA3294406 rs771276299	72	I>T		No	ClinGen ExAC gnomAD
CA360076163 rs1189971928	74	V>E		No	ClinGen TOPMed gnomAD
CA120712475 rs1032399798	76	C>G		No	ClinGen TOPMed
rs781452019 CA3294407	76	C>Y		No	ClinGen ExAC gnomAD
CA3294408 rs201378122	78	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770481920 CA3294409	79	I>V		No	ClinGen ExAC TOPMed gnomAD
CA360076255 rs1206341836	81	A>G		No	ClinGen TOPMed
rs980087742 CA120712476	82	C>R		No	ClinGen gnomAD
CA3294412 rs768874429	85	S>C		No	ClinGen ExAC gnomAD
CA3294413 rs757935966	86	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3294414 rs757935966 COSM2156582	86	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1580553858 CA360076323	87	L>F		No	ClinGen Ensembl
TCGA novel	90	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	91	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380656789 CA360076391	92	G>R		No	ClinGen gnomAD
CA3294416 rs753622102	94	G>E		No	ClinGen ExAC gnomAD
TCGA novel	98	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA120712478 rs867300539	99	G>E		No	ClinGen Ensembl
CA360076476 rs1358662300	101	S>N		No	ClinGen gnomAD
COSM1069753 CA360076486 rs1222442697	102	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs759451903 CA3294417	105	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765225540 CA3294418	106	Y>D		No	ClinGen ExAC gnomAD
CA3294420 rs757843945	107	G>E		No	ClinGen ExAC gnomAD
rs796086905 CA120712479	111	F>Y		No	ClinGen TOPMed gnomAD
TCGA novel	113	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294423 rs751194309	114	Y>H		No	ClinGen ExAC gnomAD
rs941398345 CA120712480	115	G>R		No	ClinGen gnomAD
rs973110252 CA120712481	118	Y>C		No	ClinGen TOPMed gnomAD
CA3294430 rs569095249	120	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs138515133 CA3294429	120	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs896975040 COSM1620496 CA120712483	122	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	123	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370941532 CA120712484	125	G>S		No	ClinGen gnomAD
CA3294432 rs749839176	127	G>D		No	ClinGen ExAC TOPMed gnomAD
CA360076846 rs150730577	128	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440248479 CA360076844	128	Y>S		No	ClinGen gnomAD
rs1330227470 CA360076872	130	G>D		No	ClinGen gnomAD
rs889674388 CA120712485	131	Y>H		No	ClinGen Ensembl
rs774332591 CA3294433	132	T>A		No	ClinGen ExAC TOPMed gnomAD
CA360076902 rs1261824320	133	D>Y		No	ClinGen gnomAD
rs554315084 CA3294435	134	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3294434 rs554315084	134	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360076941 rs1225699293	136	A>T		No	ClinGen gnomAD
rs899798595 CA120712487	138	K>*		No	ClinGen TOPMed
CA3294437 rs776401814	139	G>D		No	ClinGen ExAC gnomAD
CA360077002 rs759259792	141	M>L		No	ClinGen ExAC gnomAD
CA360077009 rs1252351968	141	M>T		No	ClinGen gnomAD
CA3294438 rs759259792	141	M>V		No	ClinGen ExAC gnomAD
rs1580554283 CA360077028	142	L>F		No	ClinGen Ensembl
rs1473453088 CA360077048	144	M>T		No	ClinGen gnomAD
CA120712488 rs1021937324	144	M>V		No	ClinGen gnomAD
rs563903726 CA120712489	145	A>S		No	ClinGen Ensembl
CA360077060 rs1196944821	145	A>V		No	ClinGen gnomAD
rs765029327 CA3294439	146	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762908076 CA3294441	148	C>S		No	ClinGen ExAC TOPMed gnomAD
rs762908076 CA360077090	148	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA360077104 rs1248113778	149	F>Y		No	ClinGen TOPMed
rs779726887 CA3294443	152	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3294444 RCV000998392 rs142569075	152	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3294447 rs576758998	153	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360077166 rs1345472786	155	I>S		No	ClinGen gnomAD
RCV000657871 rs139928771 CA3294448	157	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3294449 rs139928771	157	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779033708 CA3294450	158	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3294451 rs756715369	158	T>I		No	ClinGen ExAC TOPMed gnomAD
CA360077198 rs1274925175	159	S>G		No	ClinGen gnomAD
CA360077201 rs1483801855	159	S>N		No	ClinGen gnomAD
CA3294452 rs772196351	160	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs980777387 CA120712490	161	I>V		No	ClinGen Ensembl
CA360077248 rs1267876764	163	S>C		No	ClinGen gnomAD
rs1379515078 CA360077270	165	M>I		No	ClinGen gnomAD
rs773364912 CA360077261	165	M>L		No	ClinGen ExAC TOPMed gnomAD
rs773364912 CA3294453	165	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3294454 rs762501463	166	S>*		No	ClinGen ExAC
TCGA novel	170	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA120712492 rs909873163	170	R>S		No	ClinGen TOPMed
rs1305728099 CA360077335	171	Y>C		No	ClinGen TOPMed
rs1305728099 CA360077334	171	Y>S		No	ClinGen TOPMed
CA360077370 rs1474472582	174	S>N		No	ClinGen gnomAD
rs747252348 CA3294455	177	I>V		No	ClinGen ExAC gnomAD
TCGA novel	178	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360077403 rs1431820745	179	S>N		No	ClinGen TOPMed gnomAD
rs1431820745 CA360077404	179	S>T		No	ClinGen TOPMed gnomAD
CA360077429 rs1561335382	183	G>D		No	ClinGen Ensembl
rs1304054150 CA360077446	185	M>I		No	ClinGen gnomAD
CA3294458 rs372258308	185	M>R		No	ClinGen ESP ExAC gnomAD
rs200330025 CA120712495	189	A>V		No	ClinGen Ensembl
rs1370079587 CA360077476	190	T>A		No	ClinGen TOPMed
CA3294459 rs764005265	191	I>V		No	ClinGen ExAC gnomAD
CA3294460 rs774350266	192	V>F		No	ClinGen ExAC gnomAD
CA3294461 rs201347125	193	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360077503 rs1243291111	194	I>M		No	ClinGen gnomAD
rs143065857 CA3294462	194	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA360077511 rs750058362 CA3294463	195	M>I		No	ClinGen ExAC TOPMed gnomAD
CA360077508 rs1290832304	195	M>T		No	ClinGen gnomAD
CA360077537 rs1444811507	199	P>R		No	ClinGen TOPMed gnomAD
rs1211347886 CA360077539	200	T>A		No	ClinGen gnomAD
rs1259595100 CA360077552	202	Q>*		No	ClinGen gnomAD
CA360077568 rs1188040773	204	S>F		No	ClinGen gnomAD
rs755873538 CA3294464	205	G>R		No	ClinGen ExAC gnomAD
CA360077597 rs1561335476	209	G>D		No	ClinGen Ensembl
rs753234332 CA3294468	212	I>S		No	ClinGen ExAC
rs755500864 CA3294469	212	I>V		No	ClinGen ExAC TOPMed gnomAD
CA360077625 rs1295603624	213	Y>*		No	ClinGen gnomAD
rs779217784 CA3294470	213	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1368044140 CA360077622	213	Y>H		No	ClinGen TOPMed gnomAD
rs753260504 CA3294471	214	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1382120974 CA360077660	218	Q>H		No	ClinGen TOPMed gnomAD
rs1383472142 CA360077657	218	Q>P		No	ClinGen gnomAD
rs758359992 CA3294472	219	F>L		No	ClinGen ExAC gnomAD
CA3294473 rs777860360	220	Y>C		No	ClinGen ExAC gnomAD
rs747199223 CA3294474	221	T>I	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779822279 CA3294476	222	P>L		No	ClinGen ExAC gnomAD
rs377288243 CA3294475	222	P>T		No	ClinGen ESP ExAC gnomAD
CA3294477 rs748970015	223	A>V		No	ClinGen ExAC gnomAD
CA360077694 rs1349258104	224	A>V		No	ClinGen TOPMed
CA360077695 rs1349922288	225	T>A		No	ClinGen TOPMed gnomAD
rs768509969 CA3294478	225	T>I		No	ClinGen ExAC gnomAD
CA3294480 rs761845807	226	G>R		No	ClinGen ExAC gnomAD
CA3294481 rs771679621	227	L>P		No	ClinGen ExAC gnomAD
CA3294482 rs369493872	228	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3294484 rs141127898	229	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753530209 CA3294485	232	Y>C		No	ClinGen ExAC gnomAD
rs17852716 CA120712498	233	L>S		No	ClinGen Ensembl
rs867606882 CA120712499	235	H>R		No	ClinGen Ensembl
rs200609277 CA3294486	236	Y>C		No	ClinGen ExAC gnomAD
CA3294488 rs758982408	240	D>N		No	ClinGen ExAC gnomAD
CA3294489 rs756542322	240	D>V		No	ClinGen ExAC
rs777819487 CA3294490	241	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360077807 rs1472215562 RCV000522136	242	Q>*		No	ClinGen ClinVar TOPMed dbSNP
rs1335438322 CA360077810	242	Q>R		No	ClinGen gnomAD
TCGA novel	243	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397387125 CA360077818	243	E>G		No	ClinGen gnomAD
CA360077813 rs1379483551	243	E>K		No	ClinGen TOPMed gnomAD
rs148494605 CA3294502	244	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371270934 CA3294503	245	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	246	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199655841 CA3294504	246	A>V		No	ClinGen ExAC TOPMed gnomAD
CA120712935 rs562097556	250	G>E		No	ClinGen Ensembl
CA120712936 rs562097556	250	G>V		No	ClinGen Ensembl
TCGA novel	251	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763448206 CA3294507	252	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3294506 rs142683205 RCV001703826 COSM1069755	252	M>V	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs934771329 CA120712937	253	I>N		No	ClinGen TOPMed
CA120712938 rs28418826	255	V>E		No	ClinGen Ensembl
CA360078250 rs1412047937	255	V>L		No	ClinGen gnomAD
rs752075319 CA3294509	257	F>L		No	ClinGen ExAC TOPMed gnomAD
rs764521208 CA3294508	257	F>V		No	ClinGen ExAC TOPMed gnomAD
CA3294510 rs757279548	258	A>S		No	ClinGen ExAC TOPMed gnomAD
rs79095497 CA120712939	258	A>V		No	ClinGen Ensembl
rs151045915 CA3294511	262	F>C		No	ClinGen ESP ExAC gnomAD
CA120712940 rs896013112	265	V>M		No	ClinGen TOPMed
rs1482825526 CA360078414	266	K>E		No	ClinGen gnomAD
CA3294512 COSM3617666 rs750583958	268	R>*	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs762992411 CA120712942 COSM1218271	268	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA360078443 rs1561338303	269	R>T		No	ClinGen Ensembl
TCGA novel	270	K>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559132071 CA120712943	271	M>L		No	ClinGen ExAC TOPMed gnomAD
rs559132071 CA3294513	271	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778563065 CA120712945	273	R>K		No	ClinGen ExAC TOPMed gnomAD
rs778563065 CA3294514	273	R>M		No	ClinGen ExAC TOPMed gnomAD
CA120712946 rs748039308	273	R>S		No	ClinGen ExAC TOPMed gnomAD
CA120712944 rs1005239923	273	R>W		No	ClinGen TOPMed
CA120712947 rs994355755	274	Y>H		No	ClinGen TOPMed
CA3294516 rs758269124	275	D>E		No	ClinGen ExAC gnomAD
CA3294517 rs777792383	276	K>N		No	ClinGen ExAC TOPMed gnomAD
rs746963747 CA3294518	277	S>A		No	ClinGen ExAC gnomAD
rs776242848 CA3294520	278	N>S		No	ClinGen ExAC gnomAD
rs1419174832 CA360078554	279	I>N		No	ClinGen TOPMed
rs1309670545 CA360078575	281	W>*		No	ClinGen gnomAD
rs1309670545 CA360078579	281	W>L		No	ClinGen gnomAD
CA360078638 rs1338874490	286	I>V		No	ClinGen gnomAD
CA3294522 rs200654651	287	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA360078687 rs1380679015	290	Q>K		No	ClinGen gnomAD
rs373344533 CA3294523	291	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373344533 CA3294524	291	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	293	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294526 rs764466097	293	N>S		No	ClinGen ExAC TOPMed gnomAD
CA360078734 rs774802948	294	V>A		No	ClinGen ExAC gnomAD
CA3294527 rs774802948	294	V>D		No	ClinGen ExAC gnomAD
rs767475485 CA3294529	295	E>K		No	ClinGen ExAC gnomAD
CA3294531 rs756282294	296	E>G		No	ClinGen ExAC gnomAD
CA3294530 rs750576924	296	E>K		No	ClinGen ExAC gnomAD
rs769203237 CA3294543	299	K>E		No	ClinGen ExAC gnomAD
CA360066394 rs1200485303	301	V>M		No	ClinGen TOPMed
CA3294546 rs369518478	308	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000483988 CA3294545 RCV000418997 rs369518478	308	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360066519 rs1358733089	311	P>S		No	ClinGen TOPMed
CA360066526 rs1290995704	312	P>S		No	ClinGen TOPMed gnomAD
rs762297823 CA360066541	313	S>F		No	ClinGen ExAC gnomAD
CA3294547 rs774749463	313	S>P		No	ClinGen ExAC gnomAD
rs762297823 CA3294548	313	S>Y		No	ClinGen ExAC gnomAD
rs768139940 CA3294549	314	D>E		No	ClinGen ExAC gnomAD
CA360066567 rs1464959353	315	Y>F		No	ClinGen TOPMed gnomAD
CA360066565 rs1464959353	315	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	316	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760747460 CA3294551	317	E>K		No	ClinGen ExAC gnomAD
rs766388728 CA3294552	318	R>G		No	ClinGen ExAC gnomAD
CA3294553 rs754072844	318	R>K		No	ClinGen ExAC gnomAD
rs759876029 CA3294554	319	V>D		No	ClinGen ExAC gnomAD
rs1476694604 CA360066649	321	S>R		No	ClinGen gnomAD
CA360066667 rs1334082483	322	P>R		No	ClinGen TOPMed
CA3294555 rs763959728	323	M>V		No	ClinGen ExAC gnomAD
CA360066705 rs1389205291	325	Y>C		No	ClinGen gnomAD
CA360066722 rs1324293462	326	S>F		No	ClinGen TOPMed
CA3294557 rs757009047	327	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750351587 CA3294559	328	N>S		No	ClinGen ExAC gnomAD
rs1447541610 CA360066768	330	K>R		No	ClinGen gnomAD
rs1407437853 CA360066783	331	V>A		No	ClinGen TOPMed
CA360066776 rs1285212338	331	V>M		No	ClinGen gnomAD
CA360066794 rs1392356550	332	N>S		No	ClinGen TOPMed
rs1381791920 CA360066813	333	D>E		No	ClinGen gnomAD
rs1554055471 RCV000522545 CA360066817	334	K>E		No	ClinGen ClinVar Ensembl dbSNP
COSM1737850 RCV000193804 CA207538 rs201673353	335	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3294560 rs372766137	335	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	337	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360066866 rs1178930952	338	P>T		No	ClinGen gnomAD
RCV000598779 rs1303392945	339	E>missing		No	ClinVar dbSNP
rs758540698 RCV000723062	339	E>missing		No	ClinVar dbSNP
TCGA novel	344	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294562 rs748920391	345	T>A		No	ClinGen ExAC TOPMed
CA3294563 rs377673456	345	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275859439 CA360066946	346	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360066945 rs1275859439	346	P>Q		No	ClinGen gnomAD
rs1561353176 CA360067342	348	P>R		No	ClinGen Ensembl
rs1268840215 CA360067356	349	E>V		No	ClinGen TOPMed
TCGA novel	350	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294573 rs752981648	351	V>A		No	ClinGen ExAC TOPMed gnomAD
RCV001268433 rs1769684609	352	Q>*		No	ClinVar dbSNP
rs1310931080 CA360067413	354	L>I		No	ClinGen TOPMed
rs761620839 CA360067419	354	L>P		No	ClinGen ExAC gnomAD
CA3294574 rs761620839	354	L>R		No	ClinGen ExAC gnomAD
CA3294575 rs767248776	355	P>S	Variant assessed as Somatic; 0.0001106 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360067466 rs1280315953	358	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA360067524 rs1295861907	363	F>V		No	ClinGen TOPMed
rs1432438158 CA360067536	364	R>K		No	ClinGen TOPMed
rs1432438158 CA360067538	364	R>T		No	ClinGen TOPMed
rs756058631 CA3294577	367	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374647565 CA3294578	367	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs780221255 CA3294579	368	Y>*		No	ClinGen ExAC gnomAD
rs1008510904 CA120715332	368	Y>C		No	ClinGen TOPMed
CA360067596 rs1477747130	369	S>G		No	ClinGen gnomAD
CA360067595 rs1477747130	369	S>R		No	ClinGen gnomAD
rs754492560 CA3294582	371	G>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	371	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754492560 CA3294581	371	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1428033311 CA360067640	372	G>D		No	ClinGen gnomAD
CA360067646 rs1307862522	373	N>H		No	ClinGen gnomAD
CA3294583 rs747773983	373	N>S		No	ClinGen ExAC TOPMed gnomAD
CA120715334 rs1019524583	375	E>D		No	ClinGen TOPMed gnomAD
rs996156938 CA120715335	376	T>I		No	ClinGen TOPMed gnomAD
CA360067702 rs1276072946	377	P>A		No	ClinGen gnomAD
rs377718385 CA3294585	378	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1275167618 CA360067725	379	K>E		No	ClinGen TOPMed gnomAD
rs1483916225 CA360067730	379	K>R		No	ClinGen gnomAD
CA360067749 rs1452067293	381	A>T		No	ClinGen gnomAD
rs1199725583 CA360067757	381	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	384	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254943933 CA360067827	387	A>T		No	ClinGen gnomAD
CA360067857 rs1318033189	389	R>T		No	ClinGen TOPMed
TCGA novel	390	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	392	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360067916 rs1432035763	393	T>R		No	ClinGen gnomAD
CA3294588 rs771398721	394	E>K		No	ClinGen ExAC gnomAD
rs547569464 CA3294589	395	Q>P		No	ClinGen 1000Genomes ExAC
rs1387834552 CA360067969	397	H>L		No	ClinGen TOPMed gnomAD
rs759632258 CA3294590	397	H>Q		No	ClinGen ExAC gnomAD
CA360067971 rs1387834552	397	H>R		No	ClinGen TOPMed gnomAD
CA3294591 rs370970569	398	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144743806 CA3294593	402	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3294594 rs539541122	406	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs772940305 CA3294596	407	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3294597 rs760660535	408	S>Y		No	ClinGen ExAC gnomAD
rs766241016 CA3294598	410	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	414	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753783440 CA360068098	415	D>H		No	ClinGen ExAC TOPMed gnomAD
rs753783440 COSM3828357 CA3294599	415	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3294600 rs754431353	416	W>*		No	ClinGen ExAC
CA3294601 rs764755867	417	I>S		No	ClinGen ExAC gnomAD
CA3294602 rs752361069	418	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1294201213 CA360068167	421	P>Q		No	ClinGen TOPMed
rs1487003753 CA360068165	421	P>T		No	ClinGen gnomAD
CA360068188 rs1198939910	423	I>V		No	ClinGen TOPMed gnomAD
rs1232096920 CA360068202	424	T>S		No	ClinGen gnomAD
CA3294613 rs774641856	425	S>L		No	ClinGen ExAC
rs1561354402 RCV000722185	426	D>missing		No	ClinVar dbSNP
rs1279700050 CA360068225	426	D>H		No	ClinGen TOPMed gnomAD
CA360068250 rs1278703420	427	Q>H		No	ClinGen TOPMed
CA3294615 rs766179800	435	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3294616 rs776507123	440	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3294617 rs759507153	442	E>*		No	ClinGen ExAC gnomAD
CA360068471 rs1472531578	443	Y>C		No	ClinGen gnomAD
rs1159319833 CA360068499	445	S>T		No	ClinGen gnomAD
CA360068567 rs1490647080	450	L>F		No	ClinGen gnomAD
rs1490647080 CA360068566	450	L>I		No	ClinGen gnomAD
rs1168632232 CA360068578	451	D>N		No	ClinGen TOPMed
CA360068620 rs1430321238	453	I>S		No	ClinGen TOPMed
CA360068649 rs1424431282	455	K>R		No	ClinGen TOPMed
rs1346442750 CA360068696	459	R>C		No	ClinGen TOPMed gnomAD
rs1346442750 CA360068697	459	R>G		No	ClinGen TOPMed gnomAD
rs576070306 CA3294618	459	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1212096958 CA360068714	460	L>F		No	ClinGen TOPMed
rs1002907455 CA120715420	461	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	463	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1057461668 CA120715421	463	E>D		No	ClinGen TOPMed gnomAD
CA3294619 rs543078186	465	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3294620 rs758064155	467	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA360068820 rs1286187665	468	R>K		No	ClinGen gnomAD
rs1228911590 CA360068852	470	E>G		No	ClinGen gnomAD
rs1232578484 CA360068863	471	S>G		No	ClinGen TOPMed
CA360068901 rs1353523854	473	E>D		No	ClinGen TOPMed
rs763585891 CA3294621	475	M>V		No	ClinGen ExAC TOPMed
CA120715581 rs991819596	478	A>D		No	ClinGen TOPMed
rs1468714639 CA360069570	479	D>N		No	ClinGen TOPMed gnomAD
rs1385987976 CA360069625	482	N>S		No	ClinGen TOPMed
rs1469011242 CA360069691	487	V>A		No	ClinGen TOPMed
CA3294633 rs370469574 CA120715622	492	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA360069815 rs1273015431	493	Y>C		No	ClinGen gnomAD
TCGA novel	495	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294634 rs748397152	497	K>E		No	ClinGen ExAC
CA3294635 rs770678727	501	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3294636 RCV001562216 rs776456723	504	K>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1206241877 CA360069969	504	K>Q		No	ClinGen gnomAD
CA360069987 rs1487770795	505	S>N		No	ClinGen gnomAD
rs1190173129 CA360069995	505	S>R		No	ClinGen gnomAD
rs759455704 CA3294637	509	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1384727036 CA360070057	510	I>M		No	ClinGen TOPMed
CA360070052 rs1561356600	510	I>V		No	ClinGen Ensembl
rs1455354961 CA360070058	511	K>E		No	ClinGen gnomAD
CA3294638 rs769685888	513	M>V		No	ClinGen ExAC gnomAD
rs1389105586 CA360070082	514	V>F		No	ClinGen TOPMed gnomAD
rs1389105586 CA360070084	514	V>I		No	ClinGen TOPMed gnomAD
rs1430187686 CA360070099	516	D>V		No	ClinGen gnomAD
rs1348093086 CA360070107	517	Y>*		No	ClinGen gnomAD
CA3294639 rs775502641	517	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762310597 CA3294641	519	R>T		No	ClinGen ExAC gnomAD
rs762472081 CA3294642	523	T>E		No	ClinGen ExAC TOPMed gnomAD
rs763692440 CA3294643	523	T>Q		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q16625

[MIM: 251290]: Pseudo-TORCH syndrome 1 (PTORCH1)

An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. {ECO:0000269|PubMed:20727516}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. {ECO:0000269|PubMed:20727516}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q16625

Type	Name	Position	InterPro Accession
domain	Marvel domain	57 - 269	IPR008253
domain	Occludin homology domain	414 - 522	IPR010844

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Cell junction, tight junction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
apicolateral plasma membrane	The apical end of the lateral plasma membrane of epithelial cells.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell leading edge	The area of a motile cell closest to the direction of movement.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
endocytic vesicle	A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting.
integral component of membrane	The component of a 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.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
tight junction	A cell-cell junction that 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.

1 GO annotations of molecular function

Name	Definition
protein domain specific binding	Binding to a specific domain of a protein.

14 GO annotations of biological process

Name	Definition
bicellular tight junction assembly	The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet.
cell-cell junction organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells.
maintenance of blood-brain barrier	Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation.
negative regulation of gene expression	Any process that decreases 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).
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.
positive regulation of blood-brain barrier permeability	Any process that increases blood-brain barrier permeability, the quality of the blood-brain barrier that allows for a controlled passage of substances (e.g. macromolecules, small molecules, ions) into and out of the brain.
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 glucose import	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.
positive regulation of lamellipodium assembly	Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
positive regulation of microtubule polymerization	Any process that activates or increases the frequency, rate or extent of microtubule polymerization.
positive regulation of wound healing	Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.
protein localization to cell leading edge	A process in which a protein is transported to, or maintained in, a location within a cell leading edge.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of glucose transmembrane transport	Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28269	OCLN	Occludin	Canis lupus familiaris (Dog) (Canis familiaris)	PR
Q8N4S9	MARVELD2	MARVEL domain-containing protein 2	Homo sapiens (Human)	PR
Q61146	Ocln	Occludin	Mus musculus (Mouse)	PR
Q6P6T5	Ocln	Occludin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSSRPLESPP	PYRPDEFKPN	HYAPSNDIYG	GEMHVRPMLS	QPAYSFYPED	EILHFYKWTS
70	80	90	100	110	120
PPGVIRILSM	LIIVMCIAIF	ACVASTLAWD	RGYGTSLLGG	SVGYPYGGSG	FGSYGSGYGY
130	140	150	160	170	180
GYGYGYGYGG	YTDPRAAKGF	MLAMAAFCFI	AALVIFVTSV	IRSEMSRTRR	YYLSVIIVSA
190	200	210	220	230	240
ILGIMVFIAT	IVYIMGVNPT	AQSSGSLYGS	QIYALCNQFY	TPAATGLYVD	QYLYHYCVVD
250	260	270	280	290	300
PQEAIAIVLG	FMIIVAFALI	IFFAVKTRRK	MDRYDKSNIL	WDKEHIYDEQ	PPNVEEWVKN
310	320	330	340	350	360
VSAGTQDVPS	PPSDYVERVD	SPMAYSSNGK	VNDKRFYPES	SYKSTPVPEV	VQELPLTSPV
370	380	390	400	410	420
DDFRQPRYSS	GGNFETPSKR	APAKGRAGRS	KRTEQDHYET	DYTTGGESCD	ELEEDWIREY
430	440	450	460	470	480
PPITSDQQRQ	LYKRNFDTGL	QEYKSLQSEL	DEINKELSRL	DKELDDYREE	SEEYMAAADE
490	500	510	520
YNRLKQVKGS	ADYKSKKNHC	KQLKSKLSHI	KKMVGDYDRQ	KT