AiPD: Autoinhibited Protein Database

A9QM74

Gene name	KPNA7
Protein name	Importin subunit alpha-8
Names	Karyopherin subunit alpha-7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:402569
EC number
Protein Class	IMPORTIN ALPHA (PTHR23316)

Descriptions

Importin subunit alpha functions in the nuclear transport of classical nuclear localization signal (cNLS)-containing cargo. The NLS binding site in importin-alpha proteins is autoinhibited by the N-terminal IBB domain. Association with importin-beta increases the affinity for NLSs.

Autoinhibitory domains (AIDs)

Target domain	102-495 (NLS-binding domain comprising armadillo (Arm) repeats)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1-92 (importin-beta-binding domain)

Target domain

102-495 (NLS-binding domain comprising armadillo (Arm) repeats)

Relief mechanism

Partner binding (importin-beta binding)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Kimoto C et al. (2015) "Functional characterization of importin α8 as a classical nuclear localization signal receptor", Biochimica et biophysica acta, 1853, 2676-83

Kobe B (1999) "Autoinhibition by an internal nuclear localization signal revealed by the crystal structure of mammalian importin alpha", Nature structural biology, 6, 388-97

Miyatake H et al. (2015) "Crystal structure of human importin-α1 (Rch1), revealing a potential autoinhibition mode involving homodimerization", PloS one, 10, e0115995

Catimel B et al. (2001) "Biophysical characterization of interactions involving importin-alpha during nuclear import", The Journal of biological chemistry, 276, 34189-98

Autoinhibited structure

Activated structure

1 structures for A9QM74

Entry ID	Method	Resolution	Chain	Position	Source
AF-A9QM74-F1	Predicted				AlphaFoldDB

871 variants for A9QM74

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4363317 rs776296643	2	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776296643	2	P>L		No	ExAC TOPMed gnomAD
CA368421535 rs1227112950	2	P>T		No	ClinGen gnomAD
rs1227112950	2	P>T		No	gnomAD
CA368421521 rs1176775139	4	L>S		No	ClinGen TOPMed gnomAD
rs1176775139	4	L>S		No	TOPMed gnomAD
rs1469867589	5	D>H		No	gnomAD
CA368421516 rs1469867589	5	D>H		No	ClinGen gnomAD
rs761002400 CA4363315	6	A>V		No	ClinGen ExAC gnomAD
rs761002400	6	A>V		No	ExAC gnomAD
rs1398543639	9	E>G		No	gnomAD
CA368421487 rs1398543639	9	E>G		No	ClinGen gnomAD
rs375192992 CA4363314	9	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs375192992	9	E>Q		No	ESP ExAC TOPMed gnomAD
CA163748067 rs919167358	11	R>Q		No	ClinGen TOPMed gnomAD
rs919167358	11	R>Q		No	TOPMed gnomAD
rs757085194	11	R>W		No	TOPMed gnomAD
rs757085194 CA163748068	11	R>W		No	ClinGen TOPMed gnomAD
rs1195655938 CA368421470	12	R>T		No	ClinGen TOPMed gnomAD
rs1195655938	12	R>T		No	TOPMed gnomAD
rs528821704	14	F>C		No	gnomAD
CA163748066 rs528821704	14	F>C		No	ClinGen gnomAD
rs571301441 CA4363313	15	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571301441	15	K>E		No	1000Genomes ExAC TOPMed gnomAD
rs1470522117	15	K>N		No	TOPMed
CA368421446 rs1470522117	15	K>N		No	ClinGen TOPMed
CA368421443 rs1211894026	16	Y>H		No	ClinGen gnomAD
rs1211894026	16	Y>H		No	gnomAD
rs746784660	17	R>*		No	TOPMed gnomAD
rs746784660 CA163748065	17	R>*		No	ClinGen TOPMed gnomAD
rs746388880	17	R>Q		No	ExAC TOPMed gnomAD
rs746388880 COSM3735896 CA4363312	17	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1428021077 CA368421433	18	G>S		No	ClinGen TOPMed
rs1428021077	18	G>S		No	TOPMed
rs779511559	20	D>G		No	ExAC gnomAD
rs779511559 CA4363311	20	D>G		No	ClinGen ExAC gnomAD
rs1287831926 CA368421417	20	D>Y		No	ClinGen TOPMed
rs1287831926	20	D>Y		No	TOPMed
CA368421385 rs1379521182	24	R>G		No	ClinGen gnomAD
rs1379521182	24	R>G		No	gnomAD
CA4363300 rs571947684	25	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571947684	25	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs765119464	25	R>Q		No	ExAC TOPMed gnomAD
rs765119464 CA4363299	25	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1212044628 CA368421365	27	Q>*		No	ClinGen gnomAD
rs1212044628	27	Q>*		No	gnomAD
CA368421343 rs1584312124	30	A>S		No	ClinGen Ensembl
rs1584312124	30	A>S		No	Ensembl
rs529713562	30	A>V		No	1000Genomes ExAC TOPMed gnomAD
CA4363297 rs529713562	30	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs899436453	32	S>N		No	TOPMed
rs899436453 CA163747579	32	S>N		No	ClinGen TOPMed
rs1440910864	34	E>D		No	gnomAD
CA368421314 rs1440910864	34	E>D		No	ClinGen gnomAD
rs1279641831 CA368421320	34	E>K		No	ClinGen gnomAD
rs1279641831	34	E>K		No	gnomAD
rs1279641831 CA368421319	34	E>Q		No	ClinGen gnomAD
rs1279641831	34	E>Q		No	gnomAD
CA250371 RCV000191102 rs760378316	36	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760378316	36	R>*		No	ExAC TOPMed gnomAD
rs373333727	36	R>Q		No	ESP ExAC TOPMed gnomAD
rs373333727 CA4363295	36	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374650851	37	K>E		No	TOPMed gnomAD
rs1374650851 CA368421302	37	K>E		No	ClinGen TOPMed gnomAD
rs928661065	38	A>P		No	Ensembl
CA163747578 rs928661065	38	A>P		No	ClinGen Ensembl
rs1174171343	38	A>V		No	gnomAD
CA368421291 rs1174171343	38	A>V		No	ClinGen gnomAD
rs1402671191 CA368421286	39	K>R		No	ClinGen gnomAD
rs1402671191	39	K>R		No	gnomAD
rs1359275801	40	K>E		No	TOPMed
CA368421281 rs1359275801	40	K>E		No	ClinGen TOPMed
CA368421268 rs767943846	41	D>E		No	ClinGen ExAC gnomAD
rs767943846	41	D>E		No	ExAC gnomAD
rs1227564105	44	T>S		No	TOPMed
rs1227564105 CA368421248	44	T>S		No	ClinGen TOPMed
rs982775765	45	L>*		No	Ensembl
rs982775765 CA163747577	45	L>*		No	ClinGen Ensembl
rs1216855415 CA368421222	48	R>W		No	ClinGen gnomAD
rs1216855415	48	R>W		No	gnomAD
CA163747576 rs992787844	49	N>T		No	ClinGen TOPMed
rs992787844	49	N>T		No	TOPMed
rs1208520574 CA368421209	50	I>L		No	ClinGen TOPMed
rs1208520574	50	I>L		No	TOPMed
CA368421208 rs1208520574	50	I>V		No	ClinGen TOPMed
rs1208520574	50	I>V		No	TOPMed
rs951473627 CA163747575	51	T>M		No	ClinGen TOPMed gnomAD
rs951473627	51	T>M		No	TOPMed gnomAD
rs1284336075	52	S>G		No	gnomAD
rs1284336075 CA368421196	52	S>G		No	ClinGen gnomAD
rs1207512536 CA368421194	52	S>N		No	ClinGen gnomAD
rs1207512536	52	S>N		No	gnomAD
rs1222676173 CA368421171	55	P>A		No	ClinGen TOPMed gnomAD
rs1222676173	55	P>A		No	TOPMed gnomAD
rs759935298 CA4363292	55	P>L		No	ClinGen ExAC gnomAD
rs759935298	55	P>L		No	ExAC gnomAD
rs1237097257 CA368421160	57	T>A		No	ClinGen gnomAD
rs1237097257	57	T>A		No	gnomAD
CA368421155 rs1240371179	57	T>I		No	ClinGen TOPMed
rs1240371179	57	T>I		No	TOPMed
rs370119594	58	P>S		No	ESP ExAC TOPMed gnomAD
CA4363291 rs370119594	58	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370119594	58	P>T		No	ESP ExAC TOPMed gnomAD
rs370119594 CA368421154	58	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA368421144 rs1415357348	59	S>F		No	ClinGen gnomAD
rs1415357348	59	S>F		No	gnomAD
rs375418501	60	E>D		No	ESP ExAC TOPMed gnomAD
CA4363290 rs375418501	60	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453141738	61	K>T		No	TOPMed
rs1453141738 CA368421133	61	K>T		No	ClinGen TOPMed
rs749441721	62	T>A		No	ExAC gnomAD
rs749441721 CA4363289	62	T>A		No	ClinGen ExAC gnomAD
CA368421119 rs1317958481	63	A>G		No	ClinGen gnomAD
rs1317958481	63	A>G		No	gnomAD
rs979984416 CA163747571	65	G>E		No	ClinGen TOPMed gnomAD
rs979984416	65	G>E		No	TOPMed gnomAD
rs1563086894 CA368421109	65	G>R		No	ClinGen Ensembl
rs1563086894	65	G>R		No	Ensembl
CA163747570 rs968976477	66	V>L		No	ClinGen TOPMed gnomAD
rs968976477	66	V>L		No	TOPMed gnomAD
CA368421094 rs1484427829	67	A>V		No	ClinGen TOPMed gnomAD
rs1484427829	67	A>V		No	TOPMed gnomAD
rs1348615054	68	V>D		No	gnomAD
rs1348615054 CA368421078	68	V>D		No	ClinGen gnomAD
rs565638741 CA163746754	71	T>A		No	ClinGen 1000Genomes TOPMed
rs565638741	71	T>A		No	1000Genomes TOPMed
CA4363279 rs753706699	72	L>V		No	ClinGen ExAC gnomAD
rs753706699	72	L>V		No	ExAC gnomAD
CA163746752 rs1042297740	77	K>E		No	ClinGen TOPMed
rs1042297740	77	K>E		No	TOPMed
CA163746751 rs1042297740	77	K>Q		No	ClinGen TOPMed
rs1042297740	77	K>Q		No	TOPMed
rs1333449348	78	G>A		No	TOPMed
rs1333449348 CA368421014	78	G>A		No	ClinGen TOPMed
rs1447299166	80	N>H		No	TOPMed gnomAD
rs1447299166 CA368421004	80	N>H		No	ClinGen TOPMed gnomAD
CA163746750 rs946371056	81	S>R		No	ClinGen Ensembl
rs946371056	81	S>R		No	Ensembl
rs1584299242	82	S>L		No	Ensembl
rs1584299242 CA368420986	82	S>L		No	ClinGen Ensembl
CA163746749 rs914871506	84	P>S		No	ClinGen TOPMed gnomAD
rs914871506	84	P>S		No	TOPMed gnomAD
rs1213769870	88	F>Y		No	gnomAD
rs1213769870 CA368420950	88	F>Y		No	ClinGen gnomAD
rs553805479	89	Q>*		No	1000Genomes ExAC TOPMed gnomAD
rs553805479 CA4363278	89	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368420927 rs1276942306	91	T>I		No	ClinGen TOPMed
rs1276942306	91	T>I		No	TOPMed
rs1584299134	94	A>T		No	Ensembl
rs1584299134 CA368420912	94	A>T		No	ClinGen Ensembl
rs1206570723	95	R>T		No	gnomAD
CA368420902 rs1206570723	95	R>T		No	ClinGen gnomAD
rs532383617	96	K>E		No	Ensembl
CA163746640 rs532383617	96	K>E		No	ClinGen Ensembl
CA368420883 rs1179951427	96	K>I		No	ClinGen gnomAD
rs1179951427	96	K>I		No	gnomAD
rs1343121931	100	Q>*		No	gnomAD
rs1343121931 CA368420858	100	Q>*		No	ClinGen gnomAD
rs1262787440	100	Q>H		No	gnomAD
rs1262787440 CA368420854	100	Q>H		No	ClinGen gnomAD
rs1239825473	101	E>A		No	TOPMed gnomAD
CA368420850 rs1239825473	101	E>A		No	ClinGen TOPMed gnomAD
rs867766648 CA163746639	101	E>K		No	ClinGen Ensembl
rs867766648	101	E>K		No	Ensembl
CA368420848 rs1239825473	101	E>V		No	ClinGen TOPMed gnomAD
rs1239825473	101	E>V		No	TOPMed gnomAD
rs1286950848	103	N>K		No	gnomAD
rs1286950848 CA368420831	103	N>K		No	ClinGen gnomAD
rs776953285 CA4363265	103	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776953285	103	N>S		No	ExAC TOPMed gnomAD
rs1250203431	104	P>L		No	TOPMed
rs1250203431 CA368420826	104	P>L		No	ClinGen TOPMed
rs1223926512	104	P>S		No	TOPMed
CA368420828 rs1223926512	104	P>S		No	ClinGen TOPMed
rs993135797 CA163746638	105	P>L		No	ClinGen TOPMed gnomAD
rs993135797	105	P>L		No	TOPMed gnomAD
rs1235715115 CA368420822	105	P>T		No	ClinGen gnomAD
rs1235715115	105	P>T		No	gnomAD
rs897459811 CA368420818	106	L>V		No	ClinGen TOPMed gnomAD
rs897459811	106	L>V		No	TOPMed gnomAD
rs1399567348	109	V>I		No	gnomAD
CA368420801 rs1399567348	109	V>I		No	ClinGen gnomAD
rs1015968203	111	E>D		No	TOPMed gnomAD
CA163746636 rs1015968203	111	E>D		No	ClinGen TOPMed gnomAD
rs183241291 CA368420777	112	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183241291	112	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs183241291	112	A>V		No	1000Genomes ExAC TOPMed gnomAD
CA4363262 rs183241291	112	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1584297384 CA368420773	113	G>D		No	ClinGen Ensembl
rs1584297384	113	G>D		No	Ensembl
rs888646116 CA163746634	116	P>T		No	ClinGen TOPMed gnomAD
rs888646116	116	P>T		No	TOPMed gnomAD
rs1584297340 CA368420752	117	R>G		No	ClinGen Ensembl
rs1584297340	117	R>G		No	Ensembl
rs1409076920	117	R>T		No	TOPMed
CA368420749 rs1409076920 RCV000807808	117	R>T		No	ClinGen ClinVar TOPMed dbSNP
rs1337266323	118	M>I		No	TOPMed
CA368420739 rs1337266323	118	M>I		No	ClinGen TOPMed
CA368420743 rs1418562307	118	M>L		No	ClinGen TOPMed gnomAD
rs1418562307	118	M>L		No	TOPMed gnomAD
rs1418562307 CA368420744	118	M>V		No	ClinGen TOPMed gnomAD
rs1418562307	118	M>V		No	TOPMed gnomAD
rs1186573913	120	E>K		No	gnomAD
CA368420730 rs1186573913	120	E>K		No	ClinGen gnomAD
rs901443263 CA163746632	124	S>L		No	ClinGen Ensembl
rs901443263	124	S>L		No	Ensembl
rs1264099894	125	S>*		No	gnomAD
rs1264099894 CA368420693	125	S>*		No	ClinGen gnomAD
rs1205970845	127	Y>*		No	TOPMed gnomAD
rs1205970845 CA368420677	127	Y>*		No	ClinGen TOPMed gnomAD
rs756987424	128	P>S		No	ExAC gnomAD
rs756987424 CA4363259	128	P>S		No	ClinGen ExAC gnomAD
rs1790165090 RCV001245309	131	Q>*		No	ClinVar dbSNP
rs1266324101	132	F>L		No	gnomAD
rs1266324101 CA368420648	132	F>L		No	ClinGen gnomAD
rs565062037	134	A>T		No	Ensembl
CA163746631 rs565062037	134	A>T		No	ClinGen Ensembl
CA368420598 rs1336097278	139	T>I		No	ClinGen gnomAD
rs1336097278	139	T>I		No	gnomAD
rs1328581485 CA368420586	141	I>V		No	ClinGen TOPMed gnomAD
rs1328581485	141	I>V		No	TOPMed gnomAD
rs372168467	142	A>T		No	ESP ExAC TOPMed gnomAD
COSM1212751 rs372168467 CA4363253	142	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1387203922 CA368420570	143	S>L		No	ClinGen TOPMed gnomAD
rs1387203922	143	S>L		No	TOPMed gnomAD
rs1317942318 CA368420564	144	G>V		No	ClinGen gnomAD
rs1317942318	144	G>V		No	gnomAD
rs1472960459	146	S>A		No	TOPMed
rs1472960459 CA368420555	146	S>A		No	ClinGen TOPMed
CA368420553 COSM1212754 rs1395088843	146	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1395088843	146	S>L		No	TOPMed gnomAD
rs1162643945 CA368420551	147	E>K		No	ClinGen gnomAD
rs1162643945	147	E>K		No	gnomAD
CA163746630 rs913865187	148	Q>P		No	ClinGen Ensembl
rs913865187	148	Q>P		No	Ensembl
rs754676038	150	R>C		No	ExAC TOPMed gnomAD
CA4363252 rs754676038	150	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751194966	150	R>H		No	ExAC TOPMed gnomAD
rs751194966 CA4363251	150	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751194966	150	R>P		No	ExAC TOPMed gnomAD
CA368420527 rs751194966	150	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1045902211	152	V>L		No	TOPMed gnomAD
CA163746628 rs1045902211	152	V>L		No	ClinGen TOPMed gnomAD
rs1045902211	152	V>M		No	TOPMed gnomAD
rs1045902211 CA163746629	152	V>M		No	ClinGen TOPMed gnomAD
CA163746627 rs1013058063	154	E>K		No	ClinGen TOPMed gnomAD
rs1013058063	154	E>K		No	TOPMed gnomAD
rs200308603	154	E>V		No	ESP ExAC TOPMed gnomAD
CA4363249 rs200308603 RCV000456366	154	E>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs115024192	155	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4363248 rs115024192 RCV000458902	155	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1469000069	155	G>R		No	gnomAD
rs1469000069 CA368420504	155	G>R		No	ClinGen gnomAD
rs765632541 CA4363246	157	A>D		No	ClinGen ExAC gnomAD
rs765632541	157	A>D		No	ExAC gnomAD
COSM3715796 CA4363245 rs762003339	160	P>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs762003339	160	P>H		No	ExAC gnomAD
CA368420469 rs762003339	160	P>L		No	ClinGen ExAC gnomAD
rs762003339	160	P>L		No	ExAC gnomAD
rs980613530	161	L>F		No	Ensembl
rs980613530 CA163746625	161	L>F		No	ClinGen Ensembl
rs1228191878	162	I>T		No	TOPMed gnomAD
CA368420459 rs1228191878	162	I>T		No	ClinGen TOPMed gnomAD
rs776567446	162	I>V		No	ExAC gnomAD
CA4363244 rs776567446	162	I>V		No	ClinGen ExAC gnomAD
rs936229119	163	E>K		No	TOPMed gnomAD
CA163746624 rs936229119	163	E>K		No	ClinGen TOPMed gnomAD
rs1295031684	164	L>F		No	gnomAD
rs1295031684 CA368420447	164	L>F		No	ClinGen gnomAD
rs1442446579 CA368420427	167	S>F		No	ClinGen TOPMed gnomAD
rs1442446579	167	S>F		No	TOPMed gnomAD
rs371140473 CA4363243 COSM1093772	170	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371140473	170	V>M		No	ESP ExAC TOPMed gnomAD
rs1398296228 CA368420392	173	C>Y		No	ClinGen gnomAD
rs1398296228	173	C>Y		No	gnomAD
rs1168254533 CA368420377	175	Q>*		No	ClinGen gnomAD
rs1168254533	175	Q>*		No	gnomAD
rs934086635	178	W>*		No	TOPMed
CA163746620 rs934086635	178	W>*		No	ClinGen TOPMed
rs202200015	179	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs202200015 CA368420348	179	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202200015 CA4363241	179	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202200015	179	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1388539128	180	L>F		No	gnomAD
rs1388539128 CA368420344	180	L>F		No	ClinGen gnomAD
CA368420340 rs1188682066	181	G>S		No	ClinGen TOPMed
rs1188682066	181	G>S		No	TOPMed
rs975465691 CA368420328	182	N>K		No	ClinGen TOPMed
rs975465691	182	N>K		No	TOPMed
rs1584296668	183	I>T		No	Ensembl
rs1584296668 CA368420323	183	I>T		No	ClinGen Ensembl
rs1171943942	184	A>V		No	TOPMed
rs1171943942 CA368420314	184	A>V		No	ClinGen TOPMed
CA163746618 rs556130365	185	G>S		No	ClinGen 1000Genomes
rs556130365	185	G>S		No	1000Genomes
rs1000114036 CA163746379	186	D>N		No	ClinGen gnomAD
rs1000114036	186	D>N		No	gnomAD
rs188239934 CA163746377	190	F>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs188239934	190	F>V		No	1000Genomes TOPMed gnomAD
rs544951017	192	D>E		No	ExAC gnomAD
CA4363235 rs544951017	192	D>E		No	ClinGen ExAC gnomAD
CA368420244 rs1584292942	193	N>T		No	ClinGen Ensembl
rs1584292942	193	N>T		No	Ensembl
rs895586451	194	V>I		No	gnomAD
CA163746375 rs895586451	194	V>I		No	ClinGen gnomAD
rs200382012	196	T>I		No	ExAC gnomAD
rs200382012 CA163746374	196	T>I		No	ClinGen ExAC gnomAD
rs200382012 CA4363233	196	T>R		No	ClinGen ExAC gnomAD
rs200382012	196	T>R		No	ExAC gnomAD
rs1245170795	198	N>S		No	TOPMed
CA368420213 rs1245170795	198	N>S		No	ClinGen TOPMed
rs1584292860	200	I>T		No	Ensembl
rs1584292860 CA368420197	200	I>T		No	ClinGen Ensembl
rs146752157 CA4363231	203	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146752157	203	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs146752157 CA368420180	203	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146752157	203	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs1442615066 CA368420170	205	A>T		No	ClinGen TOPMed gnomAD
rs1442615066	205	A>T		No	TOPMed gnomAD
CA4363229 rs750733929	207	I>F		No	ClinGen ExAC gnomAD
rs750733929	207	I>F		No	ExAC gnomAD
rs750733929	207	I>V		No	ExAC gnomAD
CA368420157 rs750733929	207	I>V		No	ClinGen ExAC gnomAD
rs202149995 CA163746371	210	T>A		No	ClinGen ExAC TOPMed gnomAD
rs202149995	210	T>A		No	ExAC TOPMed gnomAD
rs930903825 CA163746370	210	T>I		No	ClinGen TOPMed gnomAD
rs930903825	210	T>I		No	TOPMed gnomAD
rs202149995 CA4363227	210	T>P		No	ClinGen ExAC TOPMed gnomAD
rs202149995	210	T>P		No	ExAC TOPMed gnomAD
rs1374673893	211	L>Q		No	TOPMed gnomAD
CA368420136 rs1374673893	211	L>Q		No	ClinGen TOPMed gnomAD
rs754311223	211	L>V		No	ExAC gnomAD
CA4363226 RCV000226809 rs754311223	211	L>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs568988637	212	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs568988637 CA4363225	212	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328044109	212	P>S		No	gnomAD
CA368420131 rs1328044109	212	P>S		No	ClinGen gnomAD
rs1060502572	213	I>N		No	gnomAD
CA16612329 rs1060502572 RCV000464738	213	I>N		No	ClinGen ClinVar dbSNP gnomAD
rs1205188763	214	T>A		No	TOPMed
rs1205188763 CA368420108	214	T>A		No	ClinGen TOPMed
CA368420106 rs1486691808	214	T>I		No	ClinGen gnomAD
rs1486691808	214	T>I		No	gnomAD
rs1228660764	215	F>L		No	gnomAD
CA368420102 rs1228660764	215	F>L		No	ClinGen gnomAD
rs745689829 CA4363204	217	R>L		No	ClinGen ExAC TOPMed gnomAD
rs745689829	217	R>L		No	ExAC TOPMed gnomAD
rs745689829 CA163745818	217	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745689829	217	R>Q		No	ExAC TOPMed gnomAD
rs746487289 RCV000469618 CA4363205	217	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746487289	217	R>W		No	ExAC TOPMed gnomAD
rs1004784376	219	I>T		No	Ensembl
CA163745816 rs1004784376	219	I>T		No	ClinGen Ensembl
CA163745815 rs887469291	220	T>M		No	ClinGen TOPMed gnomAD
rs887469291	220	T>M		No	TOPMed gnomAD
rs1789760766 RCV001240316	221	W>missing		No	ClinVar dbSNP
rs1166500700	223	L>V		No	TOPMed
rs1166500700 CA368420053	223	L>V		No	ClinGen TOPMed
rs1048772061	227	C>Y		No	gnomAD
CA163745814 rs1048772061	227	C>Y		No	ClinGen gnomAD
rs1179703795	228	R>*		No	TOPMed gnomAD
rs1179703795 CA368420020	228	R>*		No	ClinGen TOPMed gnomAD
CA163745813 rs936390745	228	R>Q		No	ClinGen TOPMed
rs936390745	228	R>Q		No	TOPMed
rs1430685096	230	K>E		No	TOPMed
CA368420008 rs1430685096	230	K>E		No	ClinGen TOPMed
rs1309894439	230	K>R		No	TOPMed
CA368420005 rs1309894439	230	K>R		No	ClinGen TOPMed
rs1476178311	232	P>T		No	gnomAD
rs1476178311 CA368419992	232	P>T		No	ClinGen gnomAD
RCV001046796 CA368419982 rs1305598939	233	Y>*		No	ClinGen ClinVar dbSNP gnomAD
rs1305598939	233	Y>*		No	gnomAD
rs1187385556	233	Y>C		No	gnomAD
rs1187385556 CA368419985	233	Y>C		No	ClinGen gnomAD
rs757975479	233	Y>H		No	ExAC gnomAD
rs757975479 CA4363203	233	Y>H		No	ClinGen ExAC gnomAD
rs781165962	234	P>H		No	Ensembl
CA163745812 rs781165962	234	P>H		No	ClinGen Ensembl
rs577711835 CA368419969	235	C>*		No	ClinGen TOPMed gnomAD
rs577711835	235	C>*		No	TOPMed gnomAD
rs745456952	236	D>N		No	ExAC gnomAD
CA4363202 rs745456952	236	D>N		No	ClinGen ExAC gnomAD
CA368419963 rs1222222998	236	D>V		No	ClinGen gnomAD
rs1222222998	236	D>V		No	gnomAD
CA163745809 rs866977562	237	T>I		No	ClinGen Ensembl
rs866977562	237	T>I		No	Ensembl
rs370351226	238	A>E		No	ESP ExAC TOPMed gnomAD
CA368419952 rs370351226	238	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370351226	238	A>V		No	ESP ExAC TOPMed gnomAD
CA4363201 rs370351226	238	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366159430	239	V>M		No	gnomAD
CA368419950 rs1366159430	239	V>M		No	ClinGen gnomAD
rs1432922372	241	Q>R		No	gnomAD
rs1432922372 CA368419932	241	Q>R		No	ClinGen gnomAD
CA368419922 rs1228748937	242	I>M		No	ClinGen TOPMed
rs1228748937	242	I>M		No	TOPMed
rs1373297514 CA368419927	242	I>V		No	ClinGen TOPMed gnomAD
rs1373297514	242	I>V		No	TOPMed gnomAD
rs976989983	243	L>P		No	TOPMed
rs976989983 CA163745806	243	L>P		No	ClinGen TOPMed
CA4363199 rs116916633	244	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116916633	244	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs757591956	244	P>S		No	ExAC TOPMed gnomAD
rs757591956 CA4363200	244	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1384143515	245	A>T		No	TOPMed gnomAD
rs1384143515 CA368419913	245	A>T		No	ClinGen TOPMed gnomAD
rs944236325	245	A>V		No	gnomAD
CA163745804 rs944236325	245	A>V		No	ClinGen gnomAD
CA368419906 rs1430872222	246	L>F		No	ClinGen TOPMed gnomAD
rs1430872222	246	L>F		No	TOPMed gnomAD
rs764550177	248	H>R		No	ExAC TOPMed gnomAD
CA4363198 rs764550177	248	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1247232518	248	H>Y		No	TOPMed
rs1247232518 CA368419894	248	H>Y		No	ClinGen TOPMed
rs1375991008	249	L>F		No	TOPMed
CA368419887 rs1375991008	249	L>F		No	ClinGen TOPMed
CA368419878 rs1447056386	251	Q>K		No	ClinGen gnomAD
rs1447056386	251	Q>K		No	gnomAD
rs564199098	252	H>Q		No	TOPMed gnomAD
CA163745802 rs564199098	252	H>Q		No	ClinGen TOPMed gnomAD
rs912726009 CA163745803	252	H>R		No	ClinGen Ensembl
rs912726009	252	H>R		No	Ensembl
rs756231509 CA368419858	253	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs756231509	253	Q>H		No	ExAC TOPMed gnomAD
CA368419831 rs752758269	257	V>F		No	ClinGen ExAC TOPMed gnomAD
rs752758269	257	V>F		No	ExAC TOPMed gnomAD
rs752758269	257	V>I		No	ExAC TOPMed gnomAD
rs752758269 CA4363196	257	V>I		No	ClinGen ExAC TOPMed gnomAD
rs979406068 CA163745799	259	S>L		No	ClinGen TOPMed gnomAD
rs979406068	259	S>L		No	TOPMed gnomAD
rs979406068	259	S>W		No	TOPMed gnomAD
CA368419818 rs979406068	259	S>W		No	ClinGen TOPMed gnomAD
CA368419807 rs1231830985	261	A>T		No	ClinGen TOPMed
rs1231830985	261	A>T		No	TOPMed
CA163745798 rs533081808	261	A>V		No	ClinGen 1000Genomes
rs533081808	261	A>V		No	1000Genomes
rs756982898 CA4363194	262	C>*		No	ClinGen ExAC TOPMed gnomAD
rs756982898	262	C>*		No	ExAC TOPMed gnomAD
rs1023709548 CA163745797	262	C>Y		No	ClinGen TOPMed gnomAD
rs1023709548	262	C>Y		No	TOPMed gnomAD
rs1226507542 CA368419791	263	W>C		No	ClinGen TOPMed gnomAD
rs1226507542	263	W>C		No	TOPMed gnomAD
rs764968209 CA4363192	267	Y>*		No	ClinGen ExAC gnomAD
rs764968209	267	Y>*		No	ExAC gnomAD
rs1478063763 CA368419768	267	Y>C		No	ClinGen gnomAD
rs1478063763	267	Y>C		No	gnomAD
rs960847629 CA163745796	267	Y>H		No	ClinGen Ensembl
rs960847629	267	Y>H		No	Ensembl
rs761633120 CA4363191	268	L>I		No	ClinGen ExAC gnomAD
rs761633120	268	L>I		No	ExAC gnomAD
rs1300481788	269	T>I		No	TOPMed gnomAD
rs1300481788 CA368419756	269	T>I		No	ClinGen TOPMed gnomAD
rs1370342038	270	D>N		No	gnomAD
CA368419754 rs1370342038	270	D>N		No	ClinGen gnomAD
rs183724463	271	G>S		No	1000Genomes ExAC TOPMed gnomAD
CA4363188 rs183724463	271	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs887719282 CA163745794	272	S>C		No	ClinGen Ensembl
rs887719282	272	S>C		No	Ensembl
rs200524486	275	R>C		No	ExAC TOPMed gnomAD
rs200524486 CA4363187	275	R>C		No	ClinGen ExAC TOPMed gnomAD
rs377664445 CA4363185 RCV000463159	275	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377664445	275	R>H		No	ESP ExAC TOPMed gnomAD
rs377664445	275	R>L		No	ESP ExAC TOPMed gnomAD
CA4363186 rs377664445	275	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs745528364	276	I>V		No	ExAC TOPMed gnomAD
rs745528364 CA4363184	276	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1483240104	277	G>A		No	TOPMed gnomAD
rs1483240104 CA368419708	277	G>A		No	ClinGen TOPMed gnomAD
rs900159181 CA163745793	277	G>S		No	ClinGen TOPMed
rs900159181	277	G>S		No	TOPMed
rs1789740288 RCV001304827	278	Q>*		No	ClinVar dbSNP
rs550198713 RCV000457609 CA4363182	282	T>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs550198713	282	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1256881654 CA368419670	283	G>E		No	ClinGen gnomAD
rs1256881654	283	G>E		No	gnomAD
rs1486759654	283	G>R		No	gnomAD
CA368419672 rs1486759654	283	G>R		No	ClinGen gnomAD
rs1310532725	284	V>D		No	gnomAD
CA368419665 rs1310532725	284	V>D		No	ClinGen gnomAD
rs528934094	284	V>F		No	1000Genomes ExAC TOPMed gnomAD
CA4363180 rs528934094	284	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528934094 CA368419667	284	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528934094	284	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs528934094	284	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs528934094 CA368419666	284	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368419637 rs1303123193	289	V>A		No	ClinGen TOPMed gnomAD
rs1303123193	289	V>A		No	TOPMed gnomAD
CA163745792 rs191355534	289	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191355534	289	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4363178 rs191355534 RCV000229664	289	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs191355534	289	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs747222694	290	V>M		No	Ensembl
rs747222694 CA163745791	290	V>M		No	ClinGen Ensembl
rs1161226530 CA368419616	292	M>I		No	ClinGen gnomAD
rs1161226530	292	M>I		No	gnomAD
rs1356966382	292	M>T		No	TOPMed gnomAD
CA368419619 rs1356966382	292	M>T		No	ClinGen TOPMed gnomAD
rs1472866652 CA368419610	293	T>I		No	ClinGen gnomAD
rs1472866652	293	T>I		No	gnomAD
rs1179744502	294	S>N		No	gnomAD
CA368419606 rs1179744502	294	S>N		No	ClinGen gnomAD
rs369219037	295	S>T		No	ESP TOPMed gnomAD
CA163745790 rs369219037	295	S>T		No	ClinGen ESP TOPMed gnomAD
rs1482294652	297	L>F		No	gnomAD
CA368419586 rs1482294652	297	L>F		No	ClinGen gnomAD
rs1377711460 CA368419581	298	N>D		No	ClinGen gnomAD
rs1377711460	298	N>D		No	gnomAD
rs371196094 CA4363175	298	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371196094	298	N>S		No	ESP ExAC TOPMed gnomAD
rs1210714648 CA368419575	299	V>I		No	ClinGen TOPMed
rs1210714648	299	V>I		No	TOPMed
rs1271135978 CA368419567	300	L>*		No	ClinGen TOPMed
rs1271135978	300	L>*		No	TOPMed
rs1391422500	301	T>I		No	gnomAD
rs1391422500 CA368419546	301	T>I		No	ClinGen gnomAD
rs147552597	301	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
CA4363164 RCV000467126 rs147552597	301	T>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1276525695	302	P>S		No	gnomAD
CA368419543 rs1276525695	302	P>S		No	ClinGen gnomAD
rs749716497 CA4363163	303	S>P		No	ClinGen ExAC TOPMed gnomAD
rs749716497	303	S>P		No	ExAC TOPMed gnomAD
rs563350491	305	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs563350491 CA4363161	305	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548344970	305	R>H		No	1000Genomes TOPMed gnomAD
rs548344970 CA163745369	305	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs149883499	307	V>L		No	1000Genomes ExAC TOPMed gnomAD
CA368419517 rs149883499	307	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149883499 CA368419518	307	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149883499	307	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs149883499	307	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs149883499 CA4363160	307	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452666437 CA368419510	308	G>E		No	ClinGen gnomAD
rs1452666437	308	G>E		No	gnomAD
rs1201160538 CA368419511	308	G>W		No	ClinGen gnomAD
rs1201160538	308	G>W		No	gnomAD
rs1267352545	310	I>V		No	gnomAD
CA368419498 rs1267352545	310	I>V		No	ClinGen gnomAD
rs1359144666 CA368419488	311	V>A		No	ClinGen TOPMed
rs1359144666	311	V>A		No	TOPMed
rs781698338	312	T>M		No	ExAC gnomAD
CA4363158 rs781698338	312	T>M		No	ClinGen ExAC gnomAD
rs755570389	313	G>A		No	Ensembl
CA163745366 rs755570389	313	G>A		No	ClinGen Ensembl
rs1362232053	314	T>A		No	TOPMed
CA368419475 rs1362232053	314	T>A		No	ClinGen TOPMed
rs1029452306	315	D>G		No	Ensembl
rs1029452306 CA163745365	315	D>G		No	ClinGen Ensembl
rs1340781937	316	E>*		No	gnomAD
CA368419461 rs1340781937	316	E>*		No	ClinGen gnomAD
rs879141354 CA163745364	318	T>M		No	ClinGen TOPMed gnomAD
rs879141354	318	T>M		No	TOPMed gnomAD
CA368419435 rs1331605235	319	Q>H		No	ClinGen gnomAD
rs1331605235	319	Q>H		No	gnomAD
rs1053972445	320	M>I		No	TOPMed
rs1053972445 CA163745362	320	M>I		No	ClinGen TOPMed
CA368419422 rs1322873677	321	A>G		No	ClinGen gnomAD
rs1322873677	321	A>G		No	gnomAD
rs1282420523	321	A>S		No	TOPMed
rs1282420523 CA368419424	321	A>S		No	ClinGen TOPMed
CA368419419 rs1372178436	322	I>V		No	ClinGen gnomAD
rs1372178436	322	I>V		No	gnomAD
rs1308817288	324	A>T		No	gnomAD
rs1308817288 CA368419404	324	A>T		No	ClinGen gnomAD
CA368419400 rs1429328077	324	A>V		No	ClinGen gnomAD
rs1429328077	324	A>V		No	gnomAD
rs935475439	325	G>D		No	TOPMed
rs935475439 CA163745361	325	G>D		No	ClinGen TOPMed
rs550249246	329	V>M		No	TOPMed gnomAD
CA163745360 rs550249246	329	V>M		No	ClinGen TOPMed gnomAD
rs1454790832	330	L>P		No	TOPMed
CA368419363 rs1454790832	330	L>P		No	ClinGen TOPMed
rs1010322286 CA163745358	331	P>L		No	ClinGen TOPMed
rs1010322286	331	P>L		No	TOPMed
CA368419356 rs1484219162	332	Q>K		No	ClinGen gnomAD
rs1484219162	332	Q>K		No	gnomAD
rs758690050 CA4363154	336	H>R		No	ClinGen ExAC TOPMed gnomAD
rs758690050	336	H>R		No	ExAC TOPMed gnomAD
CA163745355 rs867733954	337	N>D		No	ClinGen gnomAD
rs867733954	337	N>D		No	gnomAD
CA368419321 rs867733954	337	N>Y		No	ClinGen gnomAD
rs867733954	337	N>Y		No	gnomAD
CA163745354 rs937399757	338	K>E		No	ClinGen Ensembl
rs937399757	338	K>E		No	Ensembl
rs587777538	339	P>A		No	ExAC TOPMed gnomAD
RCV000128624 rs587777538 CA232599	339	P>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780573823 COSM28444 CA163745352	339	P>L	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs780573823	339	P>L		No	Ensembl
CA4363152 rs587777538	339	P>S		No	ClinGen ExAC TOPMed gnomAD
rs587777538	339	P>S		No	ExAC TOPMed gnomAD
CA163745353 rs587777538 RCV000514301	339	P>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587777538	339	P>T		No	ExAC TOPMed gnomAD
CA368419305 rs1201657610	340	S>P		No	ClinGen gnomAD
rs1201657610	340	S>P		No	gnomAD
rs1274104175 CA368419290	342	Q>R		No	ClinGen gnomAD
rs1274104175	342	Q>R		No	gnomAD
rs587777539	344	E>K		No	ExAC TOPMed gnomAD
rs587777539 CA4363151	344	E>K		No	ClinGen ExAC TOPMed gnomAD
RCV000128625 rs587777539 CA232601	344	E>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587777539	344	E>Q		No	ExAC TOPMed gnomAD
rs921934181	345	A>E		No	TOPMed gnomAD
rs921934181 CA163745351	345	A>E		No	ClinGen TOPMed gnomAD
rs950190320	347	W>R		No	gnomAD
CA163745350 rs950190320	347	W>R		No	ClinGen gnomAD
rs797045052 RCV000191103 CA250373	349	L>P		No	ClinGen ClinVar TOPMed dbSNP
rs797045052	349	L>P		No	TOPMed
rs767466901 CA4363149 COSM1193613	352	V>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767466901	352	V>I		No	ExAC TOPMed gnomAD
rs759023428 CA4363148	353	A>E		No	ClinGen ExAC gnomAD
rs759023428	353	A>E		No	ExAC gnomAD
rs374319433 CA4363147 COSM1453245	354	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374319433	354	A>V		No	ESP ExAC TOPMed gnomAD
CA368419208 rs1181903996	355	G>E		No	ClinGen gnomAD
rs1181903996	355	G>E		No	gnomAD
rs1180499728	356	P>T		No	TOPMed gnomAD
rs1180499728 CA368419203	356	P>T		No	ClinGen TOPMed gnomAD
rs191505299	357	C>S		No	1000Genomes TOPMed gnomAD
CA163745348 rs191505299	357	C>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1471847710	361	Q>*		No	gnomAD
CA368419167 rs1471847710	361	Q>*		No	ClinGen gnomAD
CA368419161 rs1403982359	362	Q>K		No	ClinGen TOPMed
rs1403982359	362	Q>K		No	TOPMed
rs1584275410	365	A>D		No	Ensembl
rs1584275410 CA368419138	365	A>D		No	ClinGen Ensembl
rs189459767	367	D>N		No	1000Genomes TOPMed gnomAD
rs189459767 CA163745347 COSM2866991	367	D>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs189459767 CA368419127	367	D>Y		No	ClinGen 1000Genomes TOPMed gnomAD
rs189459767	367	D>Y		No	1000Genomes TOPMed gnomAD
CA4363143 rs770179673	368	V>I		No	ClinGen ExAC gnomAD
rs770179673	368	V>I		No	ExAC gnomAD
rs770179673 CA368419120	368	V>L		No	ClinGen ExAC gnomAD
rs770179673	368	V>L		No	ExAC gnomAD
RCV001302812 rs1290921914	370	P>missing		No	ClinVar dbSNP
rs1327492077	370	P>S		No	TOPMed
CA368419106 rs1327492077	370	P>S		No	ClinGen TOPMed
rs184331676	371	P>A		No	1000Genomes ExAC gnomAD
CA4363142 rs184331676	371	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA368419091 rs1268762381	372	L>F		No	ClinGen gnomAD
rs1268762381	372	L>F		No	gnomAD
rs1374086459	372	L>S		No	TOPMed
rs1374086459 CA368419094	372	L>S		No	ClinGen TOPMed
rs542325281	374	A>V		No	1000Genomes ExAC gnomAD
CA4363141 rs542325281	374	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1789496212 RCV001307233	378	N>missing		No	ClinVar dbSNP
CA368418560 rs1161288800	379	G>*		No	ClinGen gnomAD
rs1161288800	379	G>*		No	gnomAD
rs1161288800	379	G>R		No	gnomAD
rs1161288800 CA368418558	379	G>R		No	ClinGen gnomAD
rs756022440	380	E>*		No	ExAC gnomAD
rs756022440 CA4363134	380	E>*		No	ClinGen ExAC gnomAD
CA368418509 rs1248131815	381	F>S		No	ClinGen gnomAD
rs1248131815	381	F>S		No	gnomAD
rs760540560 CA163744993	383	V>I		No	ClinGen TOPMed gnomAD
rs760540560	383	V>I		No	TOPMed gnomAD
CA368418451 rs1484834231	384	Q>*		No	ClinGen gnomAD
rs1484834231	384	Q>*		No	gnomAD
rs1248449666 CA368418447	384	Q>R		No	ClinGen gnomAD
rs1248449666	384	Q>R		No	gnomAD
rs1010368131 CA163744991	386	E>D		No	ClinGen TOPMed
rs1010368131	386	E>D		No	TOPMed
rs1020664085	386	E>K		No	TOPMed
rs1020664085 CA163744992	386	E>K		No	ClinGen TOPMed
rs1222012946 CA368418401	386	E>V		No	ClinGen gnomAD
rs1222012946	386	E>V		No	gnomAD
rs1289774683 CA368418383	387	A>D		No	ClinGen TOPMed gnomAD
rs1289774683	387	A>D		No	TOPMed gnomAD
rs1289774683	387	A>V		No	TOPMed gnomAD
CA368418378 rs1289774683	387	A>V		No	ClinGen TOPMed gnomAD
rs1230923777 CA368418376	388	V>I		No	ClinGen gnomAD
rs1230923777	388	V>I		No	gnomAD
rs1047596716 CA163744990	391	V>A		No	ClinGen Ensembl
rs1047596716	391	V>A		No	Ensembl
rs1008416092	392	A>E		No	TOPMed gnomAD
rs1008416092 CA163744988	392	A>E		No	ClinGen TOPMed gnomAD
rs865807243	392	A>T		No	TOPMed gnomAD
CA163744989 rs865807243	392	A>T		No	ClinGen TOPMed gnomAD
rs1008416092 CA163744987	392	A>V		No	ClinGen TOPMed gnomAD
rs1008416092	392	A>V		No	TOPMed gnomAD
rs1370349746	395	A>P		No	gnomAD
rs1370349746 CA368418225	395	A>P		No	ClinGen gnomAD
rs533683035 CA4363132	396	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs533683035	396	T>I		No	1000Genomes ExAC gnomAD
rs759518479	397	G>R		No	ExAC gnomAD
CA4363131 rs759518479	397	G>R		No	ClinGen ExAC gnomAD
CA163744985 rs920542163	397	G>V		No	ClinGen TOPMed
rs920542163	397	G>V		No	TOPMed
rs751392719 CA4363130	398	A>S		No	ClinGen ExAC gnomAD
rs751392719	398	A>S		No	ExAC gnomAD
CA368418157 rs1472787714	399	T>A		No	ClinGen TOPMed
rs1472787714	399	T>A		No	TOPMed
rs1169126764	400	M>I		No	gnomAD
CA368418127 rs1169126764	400	M>I		No	ClinGen gnomAD
CA368418135 rs1379719250	400	M>K		No	ClinGen TOPMed gnomAD
rs1379719250	400	M>K		No	TOPMed gnomAD
rs1379719250 CA368418132	400	M>T		No	ClinGen TOPMed gnomAD
rs1379719250	400	M>T		No	TOPMed gnomAD
rs562883044 CA4363129	400	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562883044	400	M>V		No	1000Genomes ExAC TOPMed gnomAD
CA4363128 rs771474188	404	I>T		No	ClinGen ExAC TOPMed gnomAD
rs771474188	404	I>T		No	ExAC TOPMed gnomAD
rs1426278087	404	I>V		No	gnomAD
rs1426278087 CA368418102	404	I>V		No	ClinGen gnomAD
rs772895184	405	Q>*		No	ExAC gnomAD
CA4363127 rs772895184	405	Q>*		No	ClinGen ExAC gnomAD
CA368418091 rs1395231964	405	Q>H		No	ClinGen TOPMed
rs1395231964	405	Q>H		No	TOPMed
rs911571820	406	L>F		No	Ensembl
rs911571820 CA163744984	406	L>F		No	ClinGen Ensembl
rs1584269782	406	L>P		No	Ensembl
rs1584269782 CA368418086	406	L>P		No	ClinGen Ensembl
rs1207090565	407	V>I		No	TOPMed gnomAD
CA368418084 rs1207090565	407	V>I		No	ClinGen TOPMed gnomAD
rs1274267810	408	H>P		No	gnomAD
rs1274267810 CA368418076	408	H>P		No	ClinGen gnomAD
rs747752278	408	H>Y		No	ExAC gnomAD
rs747752278 CA4363126	408	H>Y		No	ClinGen ExAC gnomAD
CA368418062 rs1202461014	409	S>C		No	ClinGen gnomAD
rs1202461014	409	S>C		No	gnomAD
rs1060502573 CA16612327 RCV000473801 RCV001856806	410	G>V		No	ClinGen ClinVar TOPMed dbSNP
rs1060502573	410	G>V		No	TOPMed
rs1584269717 CA368418041	411	V>G		No	ClinGen Ensembl
rs1584269717	411	V>G		No	Ensembl
rs544307901 CA163744982	411	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs544307901	411	V>I		No	1000Genomes TOPMed gnomAD
rs978701684	414	P>A		No	TOPMed gnomAD
rs978701684 CA368418012	414	P>A		No	ClinGen TOPMed gnomAD
rs762142648 CA4363125	414	P>R		No	ClinGen ExAC TOPMed gnomAD
rs762142648	414	P>R		No	ExAC TOPMed gnomAD
rs978701684 CA163744981	414	P>T		No	ClinGen TOPMed gnomAD
rs978701684	414	P>T		No	TOPMed gnomAD
CA368417996 rs1290566184	415	L>P		No	ClinGen gnomAD
rs1290566184	415	L>P		No	gnomAD
rs796976905	418	L>V		No	TOPMed gnomAD
CA163744980 rs796976905	418	L>V		No	ClinGen TOPMed gnomAD
CA368417909 rs1360415864	422	P>L		No	ClinGen gnomAD
rs1360415864	422	P>L		No	gnomAD
rs1459965780 CA368417912	422	P>S		No	ClinGen gnomAD
rs1459965780	422	P>S		No	gnomAD
rs1197750819 CA368417900	423	D>V		No	ClinGen TOPMed
rs1197750819	423	D>V		No	TOPMed
CA368417906 rs1176635782	423	D>Y		No	ClinGen gnomAD
rs1176635782	423	D>Y		No	gnomAD
rs1480055269	426	I>T		No	TOPMed gnomAD
CA368417855 rs1480055269	426	I>T		No	ClinGen TOPMed gnomAD
CA368417863 rs1563070158	426	I>V		No	ClinGen Ensembl
rs1563070158	426	I>V		No	Ensembl
rs1427161208	428	L>V		No	TOPMed gnomAD
rs1427161208 CA368417834	428	L>V		No	ClinGen TOPMed gnomAD
rs777050981	432	D>N		No	ExAC gnomAD
CA4363124 rs777050981	432	D>N		No	ClinGen ExAC gnomAD
rs768837453	434	I>T		No	ExAC
rs768837453 CA4363123	434	I>T		No	ClinGen ExAC
rs1250005790	436	C>R		No	gnomAD
CA368417781 rs1250005790	436	C>R		No	ClinGen gnomAD
CA368417774 rs1563070117	437	I>L		No	ClinGen Ensembl
rs1563070117	437	I>L		No	Ensembl
rs1024331795 CA163744407	440	A>T		No	ClinGen TOPMed gnomAD
rs1024331795	440	A>T		No	TOPMed gnomAD
COSM453652 CA4363110 rs202050828	440	A>V	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs202050828	440	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1369210823	441	A>T		No	gnomAD
CA368417450 rs1369210823	441	A>T		No	ClinGen gnomAD
CA368417440 rs1313375390	441	A>V		No	ClinGen TOPMed gnomAD
rs1313375390	441	A>V		No	TOPMed gnomAD
rs1563065417	442	E>D		No	Ensembl
COSM1093767 rs1563065417 CA368417422	442	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1016087187	442	E>G		No	Ensembl
rs1016087187 CA163744406	442	E>G		No	ClinGen Ensembl
rs1471843586	443	K>E		No	TOPMed
CA368417416 rs1471843586	443	K>E		No	ClinGen TOPMed
rs761533040 CA4363108	443	K>I		No	ClinGen ExAC TOPMed gnomAD
rs761533040	443	K>I		No	ExAC TOPMed gnomAD
rs201961379	444	R>G		No	ExAC TOPMed gnomAD
rs201961379 CA4363107	444	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764548916	444	R>Q		No	ExAC gnomAD
rs764548916 CA4363106	444	R>Q		No	ClinGen ExAC gnomAD
rs201961379 CA163744404	444	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201961379	444	R>W		No	ExAC TOPMed gnomAD
rs760915691 CA4363105	445	S>P		No	ClinGen ExAC TOPMed gnomAD
rs760915691	445	S>P		No	ExAC TOPMed gnomAD
rs1028083096	446	E>G		No	TOPMed
rs1028083096 CA163744403	446	E>G		No	ClinGen TOPMed
rs756389890	449	N>K		No	TOPMed gnomAD
rs756389890 CA163744402	449	N>K		No	ClinGen TOPMed gnomAD
rs544712598	451	C>R		No	1000Genomes ExAC
CA4363103 rs544712598	451	C>R		No	ClinGen 1000Genomes ExAC
rs750134680	451	C>W		No	ExAC TOPMed gnomAD
CA4363102 rs750134680	451	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1009637678	455	E>D		No	Ensembl
CA163744399 rs1009637678	455	E>D		No	ClinGen Ensembl
rs1355814828	458	G>D		No	TOPMed
rs1355814828 CA368417218	458	G>D		No	ClinGen TOPMed
CA368417210 rs1244825216	460	I>V		No	ClinGen gnomAD
rs1244825216	460	I>V		No	gnomAD
rs1299140611	462	R>T		No	gnomAD
CA368417193 rs1299140611	462	R>T		No	ClinGen gnomAD
CA368417165 rs1325774272	466	L>S		No	ClinGen gnomAD
rs1325774272	466	L>S		No	gnomAD
CA368417159 rs1271711405	467	Q>*		No	ClinGen TOPMed
rs1271711405	467	Q>*		No	TOPMed
rs1181917470	467	Q>P		No	TOPMed
CA368417158 rs1181917470	467	Q>P		No	ClinGen TOPMed
rs1181917470 CA368417157	467	Q>R		No	ClinGen TOPMed
rs1181917470	467	Q>R		No	TOPMed
rs1316145709	468	L>M		No	TOPMed gnomAD
RCV001221184 CA368417153 rs1316145709	468	L>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1421240713	469	H>R		No	TOPMed
CA368417145 rs1421240713	469	H>R		No	ClinGen TOPMed
rs1400379269	471	N>S		No	gnomAD
rs1400379269 CA368417128	471	N>S		No	ClinGen gnomAD
rs565359658	472	R>C		No	1000Genomes ExAC TOPMed gnomAD
CA4363100 rs565359658	472	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181654876	472	R>H		No	1000Genomes ExAC TOPMed gnomAD
CA4363099 rs181654876 RCV000228997	472	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1163610760 CA368417120	473	Q>K		No	ClinGen TOPMed
rs1163610760	473	Q>K		No	TOPMed
CA368417106 rs1367401575	474	I>M		No	ClinGen TOPMed
rs1367401575	474	I>M		No	TOPMed
rs1422947526	474	I>V		No	gnomAD
rs1422947526 CA368417111	474	I>V		No	ClinGen gnomAD
rs576692272	475	G>S		No	1000Genomes ExAC gnomAD
CA4363098 rs576692272	475	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs971860701	475	G>V		No	TOPMed gnomAD
CA163744396 rs971860701	475	G>V		No	ClinGen TOPMed gnomAD
rs1024162142 CA163744395	476	Q>R		No	ClinGen TOPMed
rs1024162142	476	Q>R		No	TOPMed
rs1475158567	477	S>L		No	gnomAD
CA368417090 rs1475158567	477	S>L		No	ClinGen gnomAD
rs868010816	477	S>P		No	Ensembl
CA163744394 rs868010816	477	S>P		No	ClinGen Ensembl
CA368417066 rs1201687668	481	I>V		No	ClinGen gnomAD
rs1201687668	481	I>V		No	gnomAD
rs1268598022	482	I>T		No	TOPMed gnomAD
CA368417056 rs1268598022	482	I>T		No	ClinGen TOPMed gnomAD
rs1340679248	483	E>G		No	TOPMed
rs1340679248 CA368417051	483	E>G		No	ClinGen TOPMed
rs776729679	483	E>K		No	TOPMed gnomAD
rs776729679 CA163744393	483	E>K		No	ClinGen TOPMed gnomAD
CA4363096 rs776729679	483	E>Q		No	ClinGen TOPMed gnomAD
rs776729679	483	E>Q		No	TOPMed gnomAD
rs1220776910 CA368417025	486	F>C		No	ClinGen gnomAD
rs1220776910	486	F>C		No	gnomAD
rs1205150702 CA368417022	487	G>S		No	ClinGen TOPMed
rs1205150702	487	G>S		No	TOPMed
rs1441722705	490	E>G		No	gnomAD
rs1441722705 CA368416965	490	E>G		No	ClinGen gnomAD
rs1280310680	490	E>K		No	gnomAD
rs1280310680 CA368416968	490	E>K		No	ClinGen gnomAD
rs964768470	496	L>S		No	TOPMed gnomAD
CA163743782 rs964768470	496	L>S		No	ClinGen TOPMed gnomAD
CA368416914 rs1415024673	497	L>P		No	ClinGen Ensembl
rs1415024673	497	L>P		No	Ensembl
CA4363083 rs374639225	502	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374639225	502	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767922702	502	D>G		No	ExAC gnomAD
CA4363084 rs767922702	502	D>G		No	ClinGen ExAC gnomAD
rs1397661012 CA368416872	503	Q>H		No	ClinGen gnomAD
rs1397661012	503	Q>H		No	gnomAD
rs774947420	503	Q>K		No	ExAC gnomAD
rs774947420 CA4363082	503	Q>K		No	ClinGen ExAC gnomAD
rs145752831 CA4363081	503	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs145752831	503	Q>R		No	1000Genomes ExAC gnomAD
CA368416865 rs1469277277	504	D>E		No	ClinGen TOPMed gnomAD
rs1469277277	504	D>E		No	TOPMed gnomAD
rs868137944	506	E>K		No	Ensembl
CA163743781 rs868137944	506	E>K		No	ClinGen Ensembl
CA368416843 rs1230888401	507	F>C		No	ClinGen gnomAD
rs1230888401	507	F>C		No	gnomAD
CA4363080 rs371763807	508	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs371763807	508	I>T		No	ESP ExAC TOPMed gnomAD
rs367591876 CA4363078	511	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs367591876	511	E>K		No	ESP ExAC TOPMed gnomAD

No associated diseases with A9QM74

7 regional properties for A9QM74

Type	Name	Position	InterPro Accession
repeat	Armadillo	102 - 185	IPR000225-1
repeat	Armadillo	187 - 228	IPR000225-2
repeat	Armadillo	231 - 270	IPR000225-3
repeat	Armadillo	272 - 354	IPR000225-4
repeat	Armadillo	356 - 396	IPR000225-5
repeat	Armadillo	399 - 439	IPR000225-6
domain	Importin-alpha, importin-beta-binding domain	1 - 92	IPR002652

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family	PTHR23316	IMPORTIN ALPHA
PANTHER Subfamily	PTHR23316:SF11	IMPORTIN SUBUNIT ALPHA-8
PANTHER Protein Class	transporter
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
NLS-dependent protein nuclear import complex	A dimer consisting of an alpha and a beta-subunit that imports proteins with an NLS into the nucleus through a nuclear pore.
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.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

2 GO annotations of molecular function

Name	Definition
nuclear import signal receptor activity	Combining with a nuclear import signal (NIS) on a cargo to be transported, to mediate transport of the cargo through the nuclear pore, from the cytoplasm to the nuclear lumen. The cargo can be either a RNA or a protein.
nuclear localization sequence binding	Binding to a nuclear localization sequence, a specific peptide sequence that acts as a signal to localize the protein within the nucleus.

5 GO annotations of biological process

Name	Definition
blastocyst development	The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
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).
NLS-bearing protein import into nucleus	The directed movement of a protein bearing a nuclear localization signal (NLS) from the cytoplasm into the nucleus, across the nuclear envelope.
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 histone H3-K27 trimethylation	Any process that activates or increases the frequency, rate or extent of histone H3-K27 trimethylation.

30 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02821	SRP1	Importin subunit alpha	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	SS
Q0V7M0	KPNA6	Importin subunit alpha-7	Bos taurus (Bovine)	SS
A2VE08	KPNA1	Importin subunit alpha-5	Bos taurus (Bovine)	SS
C1JZ66	KPNA7	Importin subunit alpha-8	Bos taurus (Bovine)	PR
Q5ZML1	KPNA1	Importin subunit alpha-5	Gallus gallus (Chicken)	SS
P52295	Pen	Importin subunit alpha	Drosophila melanogaster (Fruit fly)	SS
O00505	KPNA3	Importin subunit alpha-4	Homo sapiens (Human)	SS
O00629	KPNA4	Importin subunit alpha-3	Homo sapiens (Human)	SS
O15131	KPNA5	Importin subunit alpha-6	Homo sapiens (Human)	SS
O60684	KPNA6	Importin subunit alpha-7	Homo sapiens (Human)	SS
P52292	KPNA2	Importin subunit alpha-1	Homo sapiens (Human)	EV
P52294	KPNA1	Importin subunit alpha-5	Homo sapiens (Human)	SS
Q60960	Kpna1	Importin subunit alpha-5	Mus musculus (Mouse)	SS
O35343	Kpna4	Importin subunit alpha-3	Mus musculus (Mouse)	SS
O35345	Kpna6	Importin subunit alpha-7	Mus musculus (Mouse)	PR
O35344	Kpna3	Importin subunit alpha-4	Mus musculus (Mouse)	SS
P52293	Kpna2	Importin subunit alpha-1	Mus musculus (Mouse)	EV
C0LLJ0	Kpna7	Importin subunit alpha-8	Mus musculus (Mouse)	SS
C6K7I2	KPNA7	Importin subunit alpha-8	Sus scrofa (Pig)	SS
P83953	Kpna1	Importin subunit alpha-5	Rattus norvegicus (Rat)	SS
Q56R16	Kpna5	Importin subunit alpha-6	Rattus norvegicus (Rat)	SS
Q71VM4	Os01g0253300	Importin subunit alpha-1a	Oryza sativa subsp. japonica (Rice)	SS
Q19969	ima-3	Importin subunit alpha-3	Caenorhabditis elegans	SS
P91276	ima-2	Importin subunit alpha-2	Caenorhabditis elegans	SS
O04294	IMPA3	Importin subunit alpha-3	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9FJ09	IMPA5	Importin subunit alpha-5	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9M9X7	IMPA7	Importin subunit alpha-7	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9FWY7	IMPA6	Importin subunit alpha-6	Arabidopsis thaliana (Mouse-ear cress)	SS
O22478		Importin subunit alpha	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	SS
Q503E9	kpna5	Importin subunit alpha-6	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPTLDAPEER	RRKFKYRGKD	VSLRRQQRMA	VSLELRKAKK	DEQTLKRRNI	TSFCPDTPSE
70	80	90	100	110	120
KTAKGVAVSL	TLGEIIKGVN	SSDPVLCFQA	TQTARKMLSQ	EKNPPLKLVI	EAGLIPRMVE
130	140	150	160	170	180
FLKSSLYPCL	QFEAAWALTN	IASGTSEQTR	AVVEGGAIQP	LIELLSSSNV	AVCEQAVWAL
190	200	210	220	230	240
GNIAGDGPEF	RDNVITSNAI	PHLLALISPT	LPITFLRNIT	WTLSNLCRNK	NPYPCDTAVK
250	260	270	280	290	300
QILPALLHLL	QHQDSEVLSD	ACWALSYLTD	GSNKRIGQVV	NTGVLPRLVV	LMTSSELNVL
310	320	330	340	350	360
TPSLRTVGNI	VTGTDEQTQM	AIDAGMLNVL	PQLLQHNKPS	IQKEAAWALS	NVAAGPCHHI
370	380	390	400	410	420
QQLLAYDVLP	PLVALLKNGE	FKVQKEAVWM	VANFATGATM	DQLIQLVHSG	VLEPLVNLLT
430	440	450	460	470	480
APDVKIVLII	LDVISCILQA	AEKRSEKENL	CLLIEELGGI	DRIEALQLHE	NRQIGQSALN
490	500	510
IIEKHFGEEE	DESQTLLSQV	IDQDYEFIDY	ECLAKK