AiPD: Autoinhibited Protein Database

P19838

Gene name	NFKB1
Protein name	Nuclear factor NF-kappa-B p105 subunit
Names	DNA-binding factor KBF1, EBP-1, Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4790
EC number
Protein Class

Descriptions

NFκB2 is a nuclear factor NFκB p100 subunit (p52 and its precursor p100), and plays pivotal role in the regulation of the inflammatory response to pathogens, autoimmune diseases, and cancerous cells. The five members of the NF-κB family are normally kept inactive in the cytoplasm by interaction with inhibitors called IκBs or the unprocessed forms of NF-κB1 and NF-κB2. The C-terminal ankyrin repeats of p100 allow it to serve as an IkappaB-like function. The ankyrin repeats interact with and shield the nuclear localization signal located at the end of Rel-homology domain (RHD) domain and DNA binding of Rel/NF-kappaB complexes. RHD domain mediates DNA binding.

Autoinhibitory domains (AIDs)

535-793 (Ankyrin repeats) SS

Target domain	39-350 (Rel-homology domain)
Relief mechanism	Cleavage, PTM
Assay

AID

535-793 (Ankyrin repeats)

Target domain

39-350 (Rel-homology domain)

Relief mechanism

Cleavage (Proteolysis at GRR motif), PTM (Phosphorylation by stimuli including LPS)

Assay

Accessory elements

No accessory elements

References

Vallabhapurapu S et al. (2009) "Regulation and function of NF-kappaB transcription factors in the immune system", Annual review of immunology, 27, 693-733

Perkins ND (2007) "Integrating cell-signalling pathways with NF-kappaB and IKK function", Nature reviews. Molecular cell biology, 8, 49-62

Dorrington MG et al. (2019) "NF-κB Signaling in Macrophages: Dynamics, Crosstalk, and Signal Integration", Frontiers in immunology, 10, 705

Heusch M et al. (1999) "The generation of nfkb2 p52: mechanism and efficiency", Oncogene, 18, 6201-8

Savinova OV et al. (2009) "The Nfkb1 and Nfkb2 proteins p105 and p100 function as the core of high-molecular-weight heterogeneous complexes", Molecular cell, 34, 591-602

Hatada EN et al. (1992) "The ankyrin repeat domains of the NF-kappa B precursor p105 and the protooncogene bcl-3 act as specific inhibitors of NF-kappa B DNA binding", Proceedings of the National Academy of Sciences of the United States of America, 89, 2489-93

Autoinhibited structure

Activated structure

15 structures for P19838

Entry ID	Method	Resolution	Chain	Position	Source
1MDI	NMR	-	B	55-67	PDB
1MDJ	NMR	-	B	55-67	PDB
1MDK	NMR	-	B	55-67	PDB
1NFI	X-ray	270 A	B/D	248-354	PDB
1SVC	X-ray	260 A	P	2-365	PDB
2DBF	NMR	-	A	806-893	PDB
2O61	X-ray	280 A	B	40-352	PDB
3GUT	X-ray	359 A	B/D/F/H	41-352	PDB
7LEQ	X-ray	224 A	B	355-368	PDB
7LET	X-ray	240 A	B	355-368	PDB
7LF4	X-ray	285 A	B/F	355-368	PDB
7LFC	X-ray	210 A	B	355-368	PDB
7RG4	X-ray	260 A	B	331-370	PDB
7RG5	X-ray	215 A	B	331-370	PDB
AF-P19838-F1	Predicted				AlphaFoldDB

552 variants for P19838

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1578735747 RCV001027600	62	E>missing	Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
CA357958699 RCV001027589 rs1578771120 RCV001374707	86	I>S	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001027601 CA357958773 RCV001862409 rs1578771211	98	Q>*	Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000761318 rs1560679469	105	N>missing	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1724867456 RCV001327993	139	L>missing	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
rs869320754 RCV000195130	155	A>missing	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
rs1724875502 RCV001262328	175	L>*	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001331150 rs778125529 CA3025944	223	S>N	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001262753 CA357960455 RCV001027598 RCV001027604 rs1578793312	283	R>*	Immunodeficiency, common variable, 12 Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000788230 RCV000611708 rs773694113 RCV001027605	301	S>missing	Immunodeficiency, common variable, 12 Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001027593 rs1578795536	335	R>missing	Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001027595 RCV001027594 rs1578809101	474	A>missing	Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
rs4648072 VAR_016269 CA3026192 RCV001284835 RCV000514841	506	M>V	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001027596 rs1578811073 RCV001374706	512	H>missing	Immunodeficiency, common variable, 12 Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001027599 rs1578811245	539	Q>*	Inherited Immunodeficiency Diseases [ClinVar]	Yes	ClinVar dbSNP
CA3026263 RCV000881374 RCV001286331 rs149211506	614	L>F	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1727845506 RCV001331149	675	A>V	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001267366 CA3026381 RCV001880144 rs368017285	757	D>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1728635624 RCV001263439	890	A>missing	Immunodeficiency, common variable, 12 [ClinVar]	Yes	ClinVar dbSNP
rs754417859 CA3025772	4	D>E		No	ClinGen ExAC gnomAD
rs764715465 CA3025773	7	Y>H		No	ClinGen ExAC gnomAD
CA3025775 rs752031846	8	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1490669735 CA357957281	13	Q>E		No	ClinGen gnomAD
CA357957284 rs1200938039	13	Q>R		No	ClinGen gnomAD
rs966015688 CA103123588	16	H>L		No	ClinGen TOPMed gnomAD
CA357957317 rs1385709386	16	H>N		No	ClinGen gnomAD
rs966015688 CA357957321	16	H>R		No	ClinGen TOPMed gnomAD
rs1364913100 CA357957334	18	D>A		No	ClinGen gnomAD
CA3025795 rs750825184	19	P>L		No	ClinGen ExAC gnomAD
CA357957340 rs1424689902	19	P>S		No	ClinGen TOPMed
CA3025796 rs370685242	20	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA357957363 rs1347167148	23	H>D		No	ClinGen TOPMed gnomAD
CA3025797 rs780417051	23	H>R		No	ClinGen ExAC TOPMed gnomAD
rs749502665 CA3025798	24	T>A		No	ClinGen ExAC gnomAD
rs778867861 CA3025800	25	I>V		No	ClinGen ExAC gnomAD
CA357957387 rs1454525455	26	F>L		No	ClinGen TOPMed gnomAD
CA357957398 rs1485949241	28	P>S		No	ClinGen TOPMed
CA103123590 rs899498254	30	V>I		No	ClinGen TOPMed gnomAD
CA357957435 rs1359408485	33	P>L		No	ClinGen TOPMed gnomAD
rs748222621 CA3025801	35	M>I		No	ClinGen ExAC gnomAD
rs1382519896 CA357957449	35	M>T		No	ClinGen gnomAD
rs1285815126 CA357957447	35	M>V		No	ClinGen TOPMed gnomAD
CA3025802 rs572127952	39	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357957497 rs1183827374	40	D>G		No	ClinGen gnomAD
CA103123982 rs201487209	42	P>A		No	ClinGen Ensembl
CA103124400 COSM167280 rs1040399901	56	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1377309694 CA357957634	58	R>C		No	ClinGen gnomAD
CA357957682 rs1170050395	65	S>A		No	ClinGen gnomAD
RCV000788275 CA357957722 rs1578735801	71	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA357957731 rs1304282431	73	S>T		No	ClinGen gnomAD
CA357957764 rs1346783408	77	N>S		No	ClinGen gnomAD
rs1300115442 CA357957787	80	S>C		No	ClinGen TOPMed gnomAD
rs1326698146 CA357957799	82	P>S		No	ClinGen gnomAD
rs1560679373 CA357958702	87	C>R		No	ClinGen Ensembl
rs1387606271 CA357958704	87	C>Y		No	ClinGen gnomAD
CA3025854 rs763286279	88	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3025855 rs764399130	89	Y>F		No	ClinGen ExAC gnomAD
rs751657227 CA3025856	92	P>S		No	ClinGen ExAC gnomAD
rs767444867 CA3025858	95	V>L		No	ClinGen ExAC gnomAD
CA357958768 rs1578771197 RCV001027591	97	V>D		No	ClinGen ClinVar Ensembl dbSNP
CA3025859 rs750404195	97	V>I		No	ClinGen ExAC gnomAD
CA357958799 RCV000998246 rs1578771216	102	N>D		No	ClinGen ClinVar Ensembl dbSNP
rs1578771232 CA357958829	106	I>V		No	ClinGen Ensembl
CA3025862 rs749065614 RCV001327030	107	H>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs968064966 CA103127456	117	H>Q		No	ClinGen Ensembl
CA357958910 rs1241312324	118	C>R		No	ClinGen gnomAD
rs747658024 CA3025865	120	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754689167 CA3025864	120	D>N		No	ClinGen ExAC gnomAD
CA3025863 rs754689167	120	D>Y		No	ClinGen ExAC gnomAD
rs1482484326 CA357958952	124	T>A		No	ClinGen gnomAD
rs770371252 CA3025869	128	G>E		No	ClinGen ExAC gnomAD
rs776055694 CA3025870	131	D>A		No	ClinGen ExAC gnomAD
rs1309700083 CA357958996	131	D>N		No	ClinGen TOPMed gnomAD
rs761899477 CA3025874	135	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3025873 rs199574943	135	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761899477 CA357959023 COSM222928	135	G>D	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199574943 RCV000998247 CA3025872	135	G>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA357959047 rs1460343437	137	A>T		No	ClinGen TOPMed gnomAD
CA357959076 RCV000788831 rs1578785141	141	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA3025888 rs749720974	142	L>F		No	ClinGen ExAC
rs1481035824 CA357959098	145	T>S		No	ClinGen gnomAD
rs1285473658 CA357959177	156	R>Q		No	ClinGen gnomAD
rs1233818072 CA357959203	160	A>T		No	ClinGen TOPMed
CA357959208 rs1354534120	160	A>V		No	ClinGen TOPMed
rs772170990 CA3025892	162	I>M		No	ClinGen ExAC gnomAD
CA3025891 rs762107099	162	I>T		No	ClinGen ExAC gnomAD
CA103128506 rs989172843	163	R>K		No	ClinGen Ensembl
CA3025893 rs376562815	164	G>S		No	ClinGen ESP ExAC gnomAD
rs1335157467 CA357959238	165	Y>C		No	ClinGen TOPMed
RCV000788311 rs1578785260	166	N>missing		No	ClinVar dbSNP
CA357959249 rs1313338016	167	P>S		No	ClinGen TOPMed
rs945312107 CA103128507	169	L>F		No	ClinGen TOPMed
rs1490382917 CA357959274	171	V>L		No	ClinGen gnomAD
CA3025896 rs753794335	172	H>D		No	ClinGen ExAC
rs1244646904 CA357959308	176	A>S		No	ClinGen gnomAD
rs765087404 CA3025898	177	Y>C		No	ClinGen ExAC gnomAD
RCV000785730 CA357959314 rs1425802039	177	Y>N		No	ClinGen ClinVar dbSNP gnomAD
rs370312017 CA3025900	183	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751158419 CA3025902	185	D>E		No	ClinGen ExAC TOPMed gnomAD
rs777291215 CA3025901	185	D>Y		No	ClinGen ExAC gnomAD
rs201874528 CA3025903	186	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304978961 CA357959375	187	Q>K		No	ClinGen gnomAD
rs1407374916 CA357959472	191	R>Q		No	ClinGen gnomAD
CA103128708 rs865962183 COSM1485563	191	R>W	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA103128709 rs924808846	192	E>A		No	ClinGen TOPMed
CA357959489 rs1416497348	193	K>N		No	ClinGen TOPMed gnomAD
CA16618021 RCV000478377 rs1064797068	195	L>V		No	ClinGen ClinVar Ensembl dbSNP
RCV000998248 rs1578787945	196	I>missing		No	ClinVar dbSNP
rs370846760 CA103128710	197	R>C		No	ClinGen ESP gnomAD
CA3025935 rs561236472 RCV000896881	197	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs561236472 CA357959512	197	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1289614962 CA357959524	199	A>E		No	ClinGen gnomAD
COSM1049555 CA3025936 rs774227974	201	L>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs112424808 CA103128711	202	Q>L		No	ClinGen Ensembl
rs1007366668 CA103128712	204	T>A		No	ClinGen Ensembl
CA103128713 rs751252206	207	M>V		No	ClinGen Ensembl
CA357959603 rs1325477490	211	V>M		No	ClinGen TOPMed gnomAD
rs1277862289 CA357959616	213	R>W		No	ClinGen gnomAD
rs200893106 CA3025941	215	M>I		No	ClinGen ExAC gnomAD
CA357959675 rs1471643896	221	P>L		No	ClinGen gnomAD
rs747362564 CA3025945	224	T>I		No	ClinGen ExAC gnomAD
rs781361488 CA3025947	227	F>L		No	ClinGen ExAC gnomAD
rs968767176 CA103128715	229	R>S		No	ClinGen TOPMed
CA3025948 rs558348827	230	R>C		No	ClinGen ExAC gnomAD
rs146936581 RCV001531399 RCV000520669 CA3025949	230	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146936581 CA3025950	230	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553934187 RCV000521084	234	V>missing		No	ClinVar dbSNP
rs768698948 CA357959752	234	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3025952 rs768698948	234	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1578788175 CA357959760	235	V>G		No	ClinGen Ensembl
CA103128716 rs993488882	235	V>I		No	ClinGen TOPMed
CA103128717 rs200186183	238	A>T		No	ClinGen TOPMed gnomAD
rs1164768587 CA357959918	244	A>T		No	ClinGen gnomAD
RCV000998249 CA357959928 rs1578790471	244	A>V		No	ClinGen ClinVar Ensembl dbSNP
rs1369756216 CA357959949	246	N>S		No	ClinGen TOPMed gnomAD
CA3025994 rs777489019	253	V>L		No	ClinGen ExAC gnomAD
CA357960064 rs1578790536	260	G>A		No	ClinGen Ensembl
rs1057518392 RCV000414558 CA16042543	264	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA357960132 rs1560692699	270	L>P		No	ClinGen Ensembl
CA103128864 rs1017383520	274	K>R		No	ClinGen TOPMed gnomAD
rs1453366376 CA357960176	276	Q>H		No	ClinGen gnomAD
RCV000788600 rs1578790573 RCV001027602	277	K>missing		No	ClinVar dbSNP
CA357960427 RCV001027592 rs1578793298	280	I>M		No	ClinGen ClinVar Ensembl dbSNP
RCV001296192 rs1725424009	283	R>P		No	ClinVar dbSNP
CA357960483 rs1560694362 RCV000762101	285	Y>N		No	ClinGen ClinVar Ensembl dbSNP
CA357960515 rs1328954485	287	E>A		No	ClinGen gnomAD
rs1362178758 CA357960520	287	E>D		No	ClinGen TOPMed
rs1057518403 CA16042474 RCV000413927	287	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1211213470 CA357960545	289	E>G		No	ClinGen TOPMed gnomAD
CA357960552 rs1578793375	290	N>H		No	ClinGen Ensembl
rs1244496072 CA357960579 COSM3380769	292	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA103129078 rs781210011	297	F>Y		No	ClinGen Ensembl
CA357960653 RCV000523641 rs1553934600	298	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA357960670 rs1560694437	299	D>G		No	ClinGen Ensembl
rs934369353 CA103129079	300	F>I		No	ClinGen TOPMed
rs1028039837 CA103129258	311	I>V		No	ClinGen gnomAD
CA357960803 rs1419437025	314	K>Q		No	ClinGen TOPMed
CA3026030 rs759894336	321	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM1538934 CA3026029 rs777076983	321	I>V	lung liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3026032 rs752866944	324	T>K		No	ClinGen ExAC gnomAD
rs765552855 CA3026031	324	T>P		No	ClinGen ExAC
CA3026033 rs201065307	325	K>N		No	ClinGen ExAC gnomAD
rs1237040358 CA357960888	326	P>S		No	ClinGen TOPMed
rs1725580228 RCV001239655	327	A>missing		No	ClinVar dbSNP
CA357960897 rs1437539113	327	A>V		No	ClinGen gnomAD
rs143817570 CA3026037 COSM78167	334	R>Q	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA357960977 rs755801598	339	L>F		No	ClinGen ExAC TOPMed gnomAD
CA357960980 rs1226296416	340	E>*		No	ClinGen TOPMed
CA103129261 rs977929741	346	P>S		No	ClinGen gnomAD
rs1578805410 RCV001008506	357	E>missing		No	ClinVar dbSNP
rs747606607 CA3026064	361	R>K		No	ClinGen ExAC gnomAD
CA357750324 rs1473182732	363	R>H		No	ClinGen gnomAD
CA3026065 rs771511171	366	L>F		No	ClinGen ExAC gnomAD
CA3026066 rs371719137 COSM170770	371	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1321434628 CA357750411	375	G>D		No	ClinGen TOPMed gnomAD
CA3026069 rs150233754	375	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA102680485 rs1024890793 COSM200211	376	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3026072 rs774560110	377	G>D		No	ClinGen ExAC gnomAD
rs1228688860 CA357750424	378	S>G		No	ClinGen gnomAD
CA3026073 rs761774576	378	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1228688860 CA357750423	378	S>R		No	ClinGen gnomAD
rs1578805527 CA357750434	379	G>A		No	ClinGen Ensembl
rs767533475 CA3026074	379	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3026075 rs750386857	380	A>V		No	ClinGen ExAC gnomAD
CA3026078 rs753561118	381	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758005910 CA3026082	384	G>D		No	ClinGen ExAC gnomAD
rs376020000 CA3026081	384	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756958327 CA3026084	385	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1471828685 CA357750470	386	G>V		No	ClinGen gnomAD
CA3026085 rs770371198	387	M>I		No	ClinGen ExAC TOPMed gnomAD
rs919393668 CA102680562	387	M>T		No	ClinGen Ensembl
rs1426491900 CA357750473	387	M>V		No	ClinGen gnomAD
rs1374371369 CA357750494	390	S>G		No	ClinGen gnomAD
CA3026086 rs780529668	392	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1275150873 CA357750527	395	G>A		No	ClinGen gnomAD
rs201183726 CA102680596	395	G>R		No	ClinGen Ensembl
rs1361486298 CA357750532	396	G>D		No	ClinGen Ensembl
rs535214258 CA357750539	397	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs535214258 CA3026091	397	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3026092 rs772141760 COSM368177	398	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA357750547 rs1205899256	399	S>G		No	ClinGen gnomAD
rs1473283013 CA357750548	399	S>N		No	ClinGen gnomAD
rs1560703895 CA357750554	400	T>A		No	ClinGen Ensembl
rs1560703916 CA357750562	401	G>A		No	ClinGen Ensembl
rs773215129 CA3026093	401	G>S		No	ClinGen ExAC gnomAD
CA357750587 rs1197135991	403	G>V		No	ClinGen gnomAD
rs573164232 CA3026108	404	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA357750600 rs1444450766	405	S>I		No	ClinGen gnomAD
rs1200842985 CA357750605	406	F>V		No	ClinGen TOPMed
CA357750620 rs1387837873	408	H>L		No	ClinGen gnomAD
CA357750630 rs1461019247	409	Y>F		No	ClinGen gnomAD
CA357750649 rs1163517867	412	P>S		No	ClinGen gnomAD
CA357750655 rs1350194292	413	T>A		No	ClinGen gnomAD
CA357750658 rs1392377047	413	T>I		No	ClinGen gnomAD
CA357750662 rs1403407081	414	Y>C		No	ClinGen gnomAD
rs369442929 CA3026110	415	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA357750690 rs1458854781	418	T>S		No	ClinGen TOPMed
CA357750705 rs1226729977	420	H>Q		No	ClinGen gnomAD
rs747060104 CA3026112	420	H>R		No	ClinGen ExAC gnomAD
rs1222242764 CA357750707	421	P>A		No	ClinGen gnomAD
rs1222242764 CA357750706	421	P>T		No	ClinGen gnomAD
CA3026113 rs770903327	422	G>E		No	ClinGen ExAC gnomAD
CA357750718 rs776457144	423	T>A		No	ClinGen ExAC gnomAD
rs1212212163 CA357750720	423	T>S		No	ClinGen gnomAD
rs776457144 CA3026114	423	T>S		No	ClinGen ExAC gnomAD
CA357750763 rs1191100232	430	M>V		No	ClinGen gnomAD
CA357750787 rs1246690791	433	G>R		No	ClinGen gnomAD
CA3026126 rs56280473	434	T>N		No	ClinGen ExAC TOPMed gnomAD
CA102681833 rs56280473	434	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3026128 rs748505860	435	M>I		No	ClinGen ExAC gnomAD
CA357750813 rs779199620	435	M>R		No	ClinGen ExAC TOPMed gnomAD
rs779199620 RCV000788710 CA3026127	435	M>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1538933 CA357750823 rs758656960	436	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777949092 CA3026130	437	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3026131 rs747186194	437	T>N		No	ClinGen ExAC gnomAD
CA357750824 rs777949092	437	T>P		No	ClinGen ExAC TOPMed gnomAD
rs951538664 CA102681852	439	S>P		No	ClinGen TOPMed
rs770946957 CA3026132	440	K>E		No	ClinGen ExAC TOPMed gnomAD
rs776709082 CA3026133	440	K>R		No	ClinGen ExAC TOPMed gnomAD
rs183929764 CA102681857	442	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3026134 rs183929764	442	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149548281 CA102681864	445	G>D		No	ClinGen ESP TOPMed
CA102681869 rs756234799	446	C>G		No	ClinGen Ensembl
rs202196813 CA3026136	447	D>N		No	ClinGen ExAC TOPMed gnomAD
rs202196813 CA357750888	447	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA357750900 rs1304497007	448	K>N		No	ClinGen gnomAD
rs1466545002 CA357750897	448	K>R		No	ClinGen gnomAD
CA357750908 rs1404499106	449	S>R		No	ClinGen gnomAD
CA357750912 rs1560706282	450	D>G		No	ClinGen Ensembl
CA102681876 rs758007973	450	D>Y		No	ClinGen Ensembl
rs1560706306 RCV000762102	453	N>missing		No	ClinVar dbSNP
CA3026139 rs774174368	454	T>P		No	ClinGen ExAC gnomAD
rs761486898 CA3026140	457	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766947944 CA3026141	460	K>*		No	ClinGen ExAC gnomAD
rs749931994 CA3026142	461	V>L		No	ClinGen ExAC gnomAD
rs144132174 CA3026143	462	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357751022 rs753109613	466	E>D		No	ClinGen ExAC TOPMed gnomAD
rs753109613 CA3026145	466	E>D		No	ClinGen ExAC TOPMed gnomAD
rs765742100 CA3026144	466	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV000998252 rs1578809017	467	Q>missing		No	ClinVar dbSNP
rs939459600 RCV000788218 CA357751024	467	Q>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs939459600 CA102681935	467	Q>E		No	ClinGen TOPMed gnomAD
CA3026146 rs113440082	468	D>G		No	ClinGen ExAC gnomAD
rs1249624682 CA357751042	469	Q>R		No	ClinGen gnomAD
rs1178180588 CA357751064	472	S>I		No	ClinGen gnomAD
CA3026148 rs751784926	472	S>R		No	ClinGen ExAC gnomAD
rs1337707554 CA357751066	473	E>K		No	ClinGen TOPMed
CA3026149 rs201777128	474	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1029260090 CA102681943	474	A>S		No	ClinGen Ensembl
CA3026150 rs368857298	475	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3026153 RCV000969194 rs56147914	476	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3026152 rs56147914	476	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370612125 CA102681963	479	G>V		No	ClinGen Ensembl
rs1387665261 CA357751128	483	L>R		No	ClinGen gnomAD
CA357751134 rs768572248	484	T>K		No	ClinGen ExAC TOPMed gnomAD
CA3026155 rs768572248	484	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3026157 rs761427508	487	T>A		No	ClinGen ExAC TOPMed gnomAD
rs4648065 CA3026158 VAR_016268 RCV000972725	489	T>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1343662720 CA357751166	490	K>Q		No	ClinGen gnomAD
CA3026160 rs760208617	492	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3026159 rs772636272	492	E>G		No	ClinGen ExAC gnomAD
CA357751182 rs1202062110	492	E>K		No	ClinGen gnomAD
rs376402199 CA3026161	493	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3026162 rs753234250	494	A>S		No	ClinGen ExAC gnomAD
rs370018067 CA3026163	494	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764457992 CA3026164	495	G>R		No	ClinGen ExAC gnomAD
rs1390923466 CA357751203	495	G>V		No	ClinGen gnomAD
CA357751204 rs1411703511	496	V>I		No	ClinGen gnomAD
rs751909408 CA3026165	497	Q>H		No	ClinGen ExAC gnomAD
rs532849982 CA102682031	498	D>N		No	ClinGen TOPMed
CA3026189 rs201395077	499	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA102682668 rs757317367	500	L>I		No	ClinGen Ensembl
rs1333934885 CA357751249	501	F>L		No	ClinGen gnomAD
rs753960003 CA3026191	502	L>V		No	ClinGen ExAC gnomAD
rs370232532 CA102682678	504	K>Q		No	ClinGen ESP TOPMed
rs1445140594 CA357751289	507	Q>E		No	ClinGen gnomAD
CA357751301 rs1241657198	508	L>P		No	ClinGen TOPMed gnomAD
CA357751321 rs548137186	511	R>S		No	ClinGen ExAC TOPMed gnomAD
CA357751331 rs1408261872	513	A>T		No	ClinGen gnomAD
rs777364800 CA3026195	514	N>S		No	ClinGen ExAC gnomAD
rs1160281218 CA357751366	518	D>A		No	ClinGen TOPMed gnomAD
rs770559726 CA3026197 RCV001245710	518	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA102682706 rs912960525	519	Y>F		No	ClinGen TOPMed
CA3026199 rs767590342	520	A>T		No	ClinGen ExAC TOPMed gnomAD
rs769204159 CA3026200	520	A>V		No	ClinGen ExAC TOPMed gnomAD
CA357751384 rs1416049980	521	V>L		No	ClinGen gnomAD
rs762191642 CA3026202	522	T>I		No	ClinGen ExAC gnomAD
CA357751407 rs1320374807	525	V>M		No	ClinGen gnomAD
rs894361895 CA102682749	527	M>I		No	ClinGen Ensembl
rs1223196343 CA357751423	527	M>L		No	ClinGen gnomAD
COSM144954 CA3026206 rs139575566	531	V>I	central_nervous_system breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150281816 CA3026208 RCV000954092	533	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749431614 CA102682782	535	L>V		No	ClinGen Ensembl
CA102682784 rs888119577	536	T>A		No	ClinGen Ensembl
rs765191169 CA3026209	538	V>A		No	ClinGen ExAC gnomAD
rs1183147873 CA357751488	538	V>L		No	ClinGen TOPMed gnomAD
rs1305790811 CA357751495	539	Q>L		No	ClinGen Ensembl
CA357751512 rs1468899754	541	E>G		No	ClinGen gnomAD
rs1158531427 CA357751518	542	N>H		No	ClinGen gnomAD
CA357751524 rs1426432122	543	G>R		No	ClinGen gnomAD
RCV000910263 rs147574894 CA3026226	551	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357751624 rs1243895642	555	H>R		No	ClinGen TOPMed
CA357751643 rs1459962593	558	L>F		No	ClinGen TOPMed
CA3026228 rs776670245	565	V>I		No	ClinGen ExAC TOPMed gnomAD
RCV000895758 CA3026230 VAR_016270 rs4648085	566	T>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1352596520 CA357751696	567	S>T		No	ClinGen TOPMed
CA357751704 rs1370387176	568	G>C		No	ClinGen TOPMed gnomAD
CA357751703 rs1370387176	568	G>R		No	ClinGen TOPMed gnomAD
rs200626732 CA3026231	569	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA357751751 rs1560711026	575	I>V		No	ClinGen Ensembl
CA357751765 rs1238976982	577	M>L		No	ClinGen TOPMed
rs780928731 CA3026234	577	M>T		No	ClinGen ExAC gnomAD
CA3026235 rs4648086 VAR_016271	578	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1212406721 CA357751789	580	D>Y		No	ClinGen gnomAD
rs779678187 CA3026237	582	Y>H		No	ClinGen ExAC gnomAD
rs748712723 CA3026238	583	Q>K		No	ClinGen ExAC gnomAD
COSM219325 CA102686323 rs748549995	584	T>M	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1261412487 CA357751851	587	H>L		No	ClinGen gnomAD
CA357751846 rs1259119314	587	H>Y		No	ClinGen TOPMed gnomAD
CA3026253 rs767318470	590	V>A		No	ClinGen ExAC gnomAD
CA357751873 rs1187853840	591	I>V		No	ClinGen gnomAD
CA3026255 rs755827011	596	D>E		No	ClinGen ExAC
rs750210825 CA3026254	596	D>N		No	ClinGen ExAC gnomAD
rs1412434365 CA357751924	598	V>A		No	ClinGen gnomAD
CA102686335 rs898072521	598	V>M		No	ClinGen TOPMed gnomAD
CA3026257 rs55661548	599	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535706427 CA3026256	599	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs11556612 CA102686350	607	D>H		No	ClinGen ExAC gnomAD
rs11556612 CA3026260	607	D>N		No	ClinGen ExAC gnomAD
COSM107259 CA102686356 rs144066812	610	L>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA102686359 rs1036891634	612	D>G		No	ClinGen TOPMed
COSM1049569 rs374903458 CA3026261	613	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
COSM2951878 CA3026262 rs773613546	613	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770105175 CA3026264	615	G>S		No	ClinGen ExAC gnomAD
CA3026265 rs775599472	616	N>Y		No	ClinGen ExAC gnomAD
rs749489735 CA3026266	619	L>M		No	ClinGen ExAC gnomAD
rs201559647 CA357752061	621	L>I		No	ClinGen TOPMed gnomAD
rs201559647 CA102686383	621	L>V		No	ClinGen TOPMed gnomAD
CA3026268 rs774361550	622	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1252330766 CA357752072	623	A>T		No	ClinGen gnomAD
rs767408358 CA3026270	624	K>R		No	ClinGen ExAC gnomAD
CA357752084 rs1156870619	625	E>Q		No	ClinGen gnomAD
CA3026271 rs558097730	627	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs766156098 CA3026273	632	S>G		No	ClinGen ExAC gnomAD
rs1433149808 CA357752134	632	S>N		No	ClinGen gnomAD
rs569559369 CA102686431	633	I>T		No	ClinGen gnomAD
CA357752140 rs1312469339	633	I>V		No	ClinGen gnomAD
CA357752154 rs1393451792	635	L>F		No	ClinGen TOPMed gnomAD
rs1393451792 CA357752153	635	L>V		No	ClinGen TOPMed gnomAD
CA357752163 rs1335623065	636	K>R		No	ClinGen gnomAD
CA357752167 rs1235666404	637	H>D		No	ClinGen TOPMed gnomAD
CA357752168 rs1235666404	637	H>Y		No	ClinGen TOPMed gnomAD
CA3026276 rs764897996	638	K>Q		No	ClinGen ExAC gnomAD
rs1251484219 CA357752191	640	A>T		No	ClinGen gnomAD
rs891064864 CA102686452	641	A>T		No	ClinGen Ensembl
CA357752223 rs1481504006	645	D>E		No	ClinGen gnomAD
CA357752233 rs781759362	647	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3026279 rs781759362	647	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1175205869 CA357752242	648	N>S		No	ClinGen TOPMed gnomAD
rs375088091 CA3026280	649	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756468288 CA3026281	650	D>H		No	ClinGen ExAC gnomAD
CA357752274 rs1185315958	651	G>A		No	ClinGen TOPMed
rs1560716462 CA357752259	651	G>S		No	ClinGen Ensembl
rs776357090 CA3026309	654	A>G		No	ClinGen ExAC gnomAD
rs113549494 CA102686849	654	A>T		No	ClinGen Ensembl
rs1460756330 CA357752295	655	I>L		No	ClinGen TOPMed
CA102686858 rs969568429	658	A>V		No	ClinGen Ensembl
rs1210261634 CA357752332	660	M>R		No	ClinGen TOPMed
rs1468032850 CA357752339	661	S>N		No	ClinGen gnomAD
rs1242830185 CA357752347	662	N>S		No	ClinGen gnomAD
rs769653890 CA3026311	663	S>G		No	ClinGen ExAC gnomAD
rs1354029165 CA357752362	664	L>P		No	ClinGen Ensembl
CA102686882 rs948787905	667	L>V		No	ClinGen TOPMed
CA357752401 rs1475745534	671	V>M		No	ClinGen gnomAD
CA102686887 rs1016498801	672	A>G		No	ClinGen Ensembl
rs751054953 CA3026315	673	A>T		No	ClinGen ExAC gnomAD
CA357752428 rs1380630328	676	D>N		No	ClinGen TOPMed
CA3026317 rs766900573	677	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1578828182 CA357752494	685	G>E		No	ClinGen Ensembl
rs934744465 CA102686929	685	G>R		No	ClinGen TOPMed
rs1355627768 CA357752498	686	R>C		No	ClinGen TOPMed gnomAD
rs148097278 CA102686951	686	R>H		No	ClinGen ESP TOPMed gnomAD
CA3026320 rs779211179	691	L>V		No	ClinGen ExAC gnomAD
rs1553937650 RCV000520481 CA357752545	694	E>*		No	ClinGen ClinVar Ensembl dbSNP
rs757232492 CA3026323	696	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1285582042 CA357752570	697	N>S		No	ClinGen gnomAD
rs111293796 COSM3365437 CA102686985	701	A>T	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3026326 rs781202431	701	A>V		No	ClinGen ExAC gnomAD
rs141844350 CA3026327	703	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA357752654 rs1236513600	709	D>N		No	ClinGen gnomAD
VAR_016272 RCV000969195 CA3026353 rs4648099	711	H>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357752671 rs1215372705	711	H>Y		No	ClinGen gnomAD
CA357752676 rs1436404980	712	V>M		No	ClinGen gnomAD
rs376030164 CA102687223	714	S>R		No	ClinGen ESP TOPMed
CA357752719 rs1198609105	716	T>A		No	ClinGen gnomAD
rs760077365 CA3026354	718	D>N		No	ClinGen ExAC gnomAD
rs765730757 CA3026355	729	R>G		No	ClinGen ExAC TOPMed gnomAD
CA357752919 rs1372537183	732	T>A		No	ClinGen TOPMed
rs370433110 CA3026357	733	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403630346 CA357752944	734	L>M		No	ClinGen TOPMed
rs889739551 CA102687245	735	A>T		No	ClinGen TOPMed
rs1357733153 CA357753615	748	E>G		No	ClinGen gnomAD
rs750585384 CA3026380	754	Y>C		No	ClinGen ExAC gnomAD
rs1206315302 CA357753673	756	L>M		No	ClinGen gnomAD
CA3026383 rs764230559	760	W>R		No	ClinGen ExAC TOPMed gnomAD
CA102688805 rs754058922	762	N>S		No	ClinGen gnomAD
CA357753791 rs1560720653	763	A>E		No	ClinGen Ensembl
CA3026384 rs754851506	764	G>E		No	ClinGen ExAC gnomAD
CA102688825 rs964387720	766	D>H		No	ClinGen TOPMed
rs778809251 CA3026385	768	G>R		No	ClinGen ExAC gnomAD
rs1364255980 CA357753867	769	V>D		No	ClinGen gnomAD
CA357754038 rs1299091738	778	M>I		No	ClinGen TOPMed
CA102688836 rs369716580	778	M>T		No	ClinGen ESP
rs1578834273 CA357754047	779	A>S		No	ClinGen Ensembl
rs758127477 CA3026387	779	A>V		No	ClinGen ExAC gnomAD
rs1218498420 CA357754134	783	Q>P		No	ClinGen TOPMed
CA357754398 rs1236465875	789	N>S		No	ClinGen TOPMed
CA3026413 rs748652265	790	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1227116065 CA357754430	791	K>N		No	ClinGen gnomAD
CA3026414 rs201233299	792	P>R		No	ClinGen ExAC TOPMed gnomAD
CA357754436 rs1457380243	792	P>S		No	ClinGen gnomAD
CA357754479 rs1175587583	795	P>L		No	ClinGen gnomAD
rs776831944 CA3026418	797	F>V		No	ClinGen ExAC gnomAD
rs1329921442 CA357754500	798	T>I		No	ClinGen TOPMed gnomAD
CA3026421 rs369593381	801	D>E		No	ClinGen ESP ExAC gnomAD
rs1347645910 CA357754565	806	G>V		No	ClinGen gnomAD
CA102690036 rs149314909	812	A>T		No	ClinGen ESP gnomAD
CA102690039 rs147412381	813	E>K		No	ClinGen ESP TOPMed
CA102690041 rs147412381	813	E>Q		No	ClinGen ESP TOPMed
rs139661580 CA3026438	816	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000998253 COSM1049575 CA357754643 rs1578837249	818	Q>*	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs866585951 CA102690067	818	Q>R		No	ClinGen Ensembl
rs764011794 CA3026442	820	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs761606059 CA3026444	825	I>V		No	ClinGen ExAC gnomAD
rs1175212935 CA357754697	826	P>H		No	ClinGen TOPMed
CA102690095 rs984318104	827	D>A		No	ClinGen TOPMed gnomAD
CA3026447 rs755773662	829	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750069260 CA3026446	829	D>N		No	ClinGen ExAC TOPMed gnomAD
CA357754757 rs1475718562	835	L>V		No	ClinGen gnomAD
COSM293768 CA3026449 rs373165003	836	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA357754801 rs1159282370	842	G>R		No	ClinGen gnomAD
rs1427457307 CA357754808	843	I>L		No	ClinGen gnomAD
rs535499088 CA3026452	843	I>T		No	ClinGen 1000Genomes ExAC gnomAD
RCV001090881 rs1297155609	845	N>S		No	ClinVar dbSNP
CA357754821 rs1297155609	845	N>T		No	ClinGen gnomAD
CA357754840 rs1416330231	848	F>I		No	ClinGen gnomAD
CA3026454 RCV001310492 rs374536762	849	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000762103 CA3026453 rs747643116	849	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1236934560 CA357754854	850	L>Q		No	ClinGen TOPMed
CA3026456 rs147169338	851	S>R		No	ClinGen ESP ExAC gnomAD
rs376121386 CA3026457	852	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs547514307 CA3026458	853	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs768662565 CA3026459	856	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3026460 rs148626207	859	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs933952078 CA102690190	859	M>V		No	ClinGen Ensembl
CA102690195 rs1049751488	860	D>N		No	ClinGen TOPMed
rs761695940 CA3026461	861	N>S		No	ClinGen ExAC TOPMed
rs770564763 CA3026483	864	V>I		No	ClinGen ExAC gnomAD
rs776456025 CA3026484	867	G>R		No	ClinGen ExAC gnomAD
rs1553938888 RCV000497896	868	T>missing		No	ClinVar dbSNP
rs372576307 CA3026485	869	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233638615 CA357755009	873	V>A		No	ClinGen Ensembl
rs995077819 CA102690984	873	V>L		No	ClinGen TOPMed gnomAD
rs995077819 CA357755006	873	V>M		No	ClinGen TOPMed gnomAD
rs1298134899 CA357755019	875	A>T		No	ClinGen TOPMed
rs1380751223 CA357755024	875	A>V		No	ClinGen TOPMed
rs200451929 CA3026487	876	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs751865962 RCV001090882 CA3026488	877	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3026489 rs572469662	878	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA3026490 rs199668563	878	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756502096 CA3026491	879	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1162608817 CA357755049	880	G>S		No	ClinGen TOPMed
COSM3775450 CA357755068 rs1462393245	882	T>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs748249744 CA3026496	883	E>K		No	ClinGen ExAC TOPMed gnomAD
rs867547604 CA102691050	884	A>E		No	ClinGen Ensembl
CA357755110 rs1448559639	889	Q>E		No	ClinGen TOPMed
rs1560723776 CA357755120	890	A>V		No	ClinGen Ensembl
CA3026498 rs777771569	891	A>G		No	ClinGen ExAC gnomAD
CA357755128 rs1465085480	892	S>T		No	ClinGen gnomAD
rs1165511787 CA357755131	892	S>Y		No	ClinGen gnomAD
rs1194999494 CA357755140	893	S>R		No	ClinGen TOPMed
CA3026501 rs558088267	900	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs201708495 CA3026502	900	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_016273 CA102691090 rs4648118	901	A>T		No	ClinGen UniProt Ensembl dbSNP
rs1578839351 CA357755194	902	H>P		No	ClinGen Ensembl
CA102691099 rs781620527	903	S>A		No	ClinGen TOPMed
COSM176832 rs142074302 CA3026503	903	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA357755212 rs1253465534	905	P>R		No	ClinGen TOPMed
CA3026505 rs762534305	906	L>F		No	ClinGen ExAC gnomAD
rs369577304 CA3026506	907	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3026507 rs773797721	908	P>L		No	ClinGen ExAC gnomAD
rs1484555975 CA357755229	909	A>T		No	ClinGen gnomAD
CA3026508 rs372601198	909	A>V		No	ClinGen ESP ExAC gnomAD
rs935364579 CA102691146	912	R>K		No	ClinGen Ensembl
rs766773037 CA3026509	913	Q>H		No	ClinGen ExAC gnomAD
CA357755267 rs1188585068	915	I>L		No	ClinGen gnomAD
rs1471766104 CA357755275	916	D>N		No	ClinGen gnomAD
CA3026533 rs766860802	917	E>K		No	ClinGen ExAC TOPMed gnomAD
CA102693445 rs766860802	917	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA357755686 rs1342558094	918	L>P		No	ClinGen gnomAD
CA3026534 rs368962343	919	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA357755705 rs1365780728	921	S>N		No	ClinGen gnomAD
rs41341444 CA3026535	921	S>R		No	ClinGen ExAC TOPMed gnomAD
CA102693468 rs913373928	928	G>S		No	ClinGen TOPMed gnomAD
rs200653734 CA3026539	934	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751585372 CA3026540	934	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751585372 CA3026541	934	R>L		No	ClinGen ExAC TOPMed gnomAD
CA102693489 rs200653734	934	R>S		No	ClinGen ExAC TOPMed gnomAD
CA357755795 rs1328741179	935	K>Q		No	ClinGen gnomAD
rs756000027 CA3026544 COSM138446	939	T>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750315573 CA3026543	939	T>P		No	ClinGen ExAC TOPMed
CA3026546 rs373316062	940	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA357755828 rs373316062	940	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3026548 rs143882681	943	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA357755854 rs1319995973	944	S>N		No	ClinGen gnomAD
CA357755862 rs1267058231	945	G>D		No	ClinGen TOPMed
rs747675628 CA3026549	947	S>L		No	ClinGen ExAC gnomAD
CA357755887 rs1192019369	950	T>A		No	ClinGen gnomAD
rs1269652332 CA357755890	950	T>S		No	ClinGen gnomAD
rs777154135 CA3026551	951	L>P		No	ClinGen ExAC gnomAD
CA357755903 rs981584543	952	N>K		No	ClinGen gnomAD
rs1253099050 CA357755914	954	M>V		No	ClinGen TOPMed
CA3026553 rs201983448	956	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201983448 CA102693555	956	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762362361 CA102693560	957	D>E		No	ClinGen Ensembl
CA3026554 rs199909759	959	G>R		No	ClinGen ExAC TOPMed gnomAD
rs199909759 CA357755949	959	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1398945464 CA357755958	960	Q>R		No	ClinGen gnomAD
CA3026556 rs140660237	963	P>H		No	ClinGen ESP ExAC gnomAD
CA3026555 rs146862629	963	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA357755981 rs1578844809	964	L>V		No	ClinGen Ensembl
CA357756003 rs1278661577	967	K>R		No	ClinGen gnomAD

3 associated diseases with P19838

[MIM: 261600]: Phenylketonuria (PKU)

Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes intellectual disability (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 261600]: Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)

Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 261600]: Hyperphenylalaninemia (HPA)

Mildest form of phenylalanine hydroxylase deficiency. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes intellectual disability (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. . Note=The disease is caused by variants affecting the gene represented in this entry.
Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. . Note=The disease is caused by variants affecting the gene represented in this entry.
Mildest form of phenylalanine hydroxylase deficiency. . Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for P19838

Type	Name	Position	InterPro Accession
domain	FERM domain	5 - 295	IPR000299
domain	Ezrin/radixin/moesin, C-terminal	511 - 586	IPR011259
domain	FERM, N-terminal	9 - 68	IPR018979
domain	FERM, C-terminal PH-like domain	210 - 299	IPR018980
conserved_site	FERM conserved site	58 - 88	IPR019747-1
conserved_site	FERM conserved site	176 - 205	IPR019747-2
domain	FERM central domain	91 - 206	IPR019748
domain	Band 4.1 domain	1 - 206	IPR019749
domain	ERM family, FERM domain C-lobe	200 - 296	IPR041789
domain	Ezrin/radixin/moesin, alpha-helical domain	337 - 456	IPR046810

Functions

		Description
EC Number
Subcellular Localization	[Nuclear factor NF-kappa-B p105 subunit]: Cytoplasm ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
I-kappaB/NF-kappaB complex	A protein complex containing an inhibitory-kappaB (I-kappaB/IKB) protein and one or more copies of an NF-kappaB protein. In the resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
NF-kappaB complex	A protein complex that consists of a homo- or heterodimer of members of a family of structurally related proteins that contain a conserved N-terminal region called the Rel homology domain (RHD). In the nucleus, NF-kappaB complexes act as transcription factors. In unstimulated cells, NF-kappaB dimers are sequestered in the cytoplasm by IkappaB monomers; signals that induce NF-kappaB activity cause degradation of IkappaB, allowing NF-kappaB dimers to translocate to the nucleus and induce gene expression.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.
specific granule lumen	The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

12 GO annotations of molecular function

Name	Definition
actinin binding	Binding to actinin, any member of a family of proteins that crosslink F-actin.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
transcription coactivator binding	Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery.

30 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cellular response to angiotensin	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 an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen.
cellular response to dsRNA	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 double-stranded RNA stimulus.
cellular response to interleukin-1	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 an interleukin-1 stimulus.
cellular response to interleukin-6	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 an interleukin-6 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.
cellular response to mechanical stimulus	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 mechanical stimulus.
cellular response to nicotine	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 nicotine stimulus.
cellular response to tumor necrosis factor	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 tumor necrosis factor stimulus.
cellular response to virus	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 stimulus from a virus.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of calcidiol 1-monooxygenase activity	Any process that decreases the rate, frequency or extent of calcidiol 1-monooxygenase activity. Calcidiol 1-monooxygenase activity is the catalysis of the reaction: calcidiol + NADPH + H+ + O2 = calcitriol + NADP+ + H2O.
negative regulation of cholesterol transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of cholesterol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
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 inflammatory response	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of interleukin-12 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of vitamin D biosynthetic process	Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of hyaluronan biosynthetic process	Any process that activates or increases the frequency, rate or extent of hyaluronan biosynthetic process.
positive regulation of lipid storage	Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
positive regulation of macrophage derived foam cell differentiation	Any process that increases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.
positive regulation of miRNA metabolic process	Any process that activates or increases the frequency, rate or extent of miRNA metabolic process.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to muscle stretch	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P98150	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Gallus gallus (Chicken)	SS
Q04861	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Gallus gallus (Chicken)	SS
Q6F3J0	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Canis lupus familiaris (Dog) (Canis familiaris)	SS
Q94527	Rel	Nuclear factor NF-kappa-B p110 subunit	Drosophila melanogaster (Fruit fly)	EV
Q99549	MPHOSPH8	M-phase phosphoprotein 8	Homo sapiens (Human)	PR
Q8N9B4	ANKRD42	Ankyrin repeat domain-containing protein 42	Homo sapiens (Human)	PR
Q6ZVZ8	ASB18	Ankyrin repeat and SOCS box protein 18	Homo sapiens (Human)	PR
Q04206	RELA	Transcription factor p65	Homo sapiens (Human)	EV
Q00653	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Homo sapiens (Human)	SS
Q9CZK6	Anks3	Ankyrin repeat and SAM domain-containing protein 3	Mus musculus (Mouse)	PR
Q8VHA6	Asb18	Ankyrin repeat and SOCS box protein 18	Mus musculus (Mouse)	PR
Q9WTK5	Nfkb2	Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit]	Mus musculus (Mouse)	EV
P25799	Nfkb1	Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]	Mus musculus (Mouse)	EV
Q04207	Rela	Transcription factor p65	Mus musculus (Mouse)	SS
Q9TZM3	lrk-1	Leucine-rich repeat serine/threonine-protein kinase 1	Caenorhabditis elegans	SS
O22265	CAO	Signal recognition particle 43 kDa protein, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SZI3	NPR2	Regulatory protein NPR2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAEDDPYLGR	PEQMFHLDPS	LTHTIFNPEV	FQPQMALPTD	GPYLQILEQP	KQRGFRFRYV
70	80	90	100	110	120
CEGPSHGGLP	GASSEKNKKS	YPQVKICNYV	GPAKVIVQLV	TNGKNIHLHA	HSLVGKHCED
130	140	150	160	170	180
GICTVTAGPK	DMVVGFANLG	ILHVTKKKVF	ETLEARMTEA	CIRGYNPGLL	VHPDLAYLQA
190	200	210	220	230	240
EGGGDRQLGD	REKELIRQAA	LQQTKEMDLS	VVRLMFTAFL	PDSTGSFTRR	LEPVVSDAIY
250	260	270	280	290	300
DSKAPNASNL	KIVRMDRTAG	CVTGGEEIYL	LCDKVQKDDI	QIRFYEEEEN	GGVWEGFGDF
310	320	330	340	350	360
SPTDVHRQFA	IVFKTPKYKD	INITKPASVF	VQLRRKSDLE	TSEPKPFLYY	PEIKDKEEVQ
370	380	390	400	410	420
RKRQKLMPNF	SDSFGGGSGA	GAGGGGMFGS	GGGGGGTGST	GPGYSFPHYG	FPTYGGITFH
430	440	450	460	470	480
PGTTKSNAGM	KHGTMDTESK	KDPEGCDKSD	DKNTVNLFGK	VIETTEQDQE	PSEATVGNGE
490	500	510	520	530	540
VTLTYATGTK	EESAGVQDNL	FLEKAMQLAK	RHANALFDYA	VTGDVKMLLA	VQRHLTAVQD
550	560	570	580	590	600
ENGDSVLHLA	IIHLHSQLVR	DLLEVTSGLI	SDDIINMRND	LYQTPLHLAV	ITKQEDVVED
610	620	630	640	650	660
LLRAGADLSL	LDRLGNSVLH	LAAKEGHDKV	LSILLKHKKA	ALLLDHPNGD	GLNAIHLAMM
670	680	690	700	710	720
SNSLPCLLLL	VAAGADVNAQ	EQKSGRTALH	LAVEHDNISL	AGCLLLEGDA	HVDSTTYDGT
730	740	750	760	770	780
TPLHIAAGRG	STRLAALLKA	AGADPLVENF	EPLYDLDDSW	ENAGEDEGVV	PGTTPLDMAT
790	800	810	820	830	840
SWQVFDILNG	KPYEPEFTSD	DLLAQGDMKQ	LAEDVKLQLY	KLLEIPDPDK	NWATLAQKLG
850	860	870	880	890	900
LGILNNAFRL	SPAPSKTLMD	NYEVSGGTVR	ELVEALRQMG	YTEAIEVIQA	ASSPVKTTSQ
910	920	930	940	950	960
AHSLPLSPAS	TRQQIDELRD	SDSVCDSGVE	TSFRKLSFTE	SLTSGASLLT	LNKMPHDYGQ

EGPLEGKI