AiPD: Autoinhibited Protein Database

Q96PH1

Gene name	NOX5
Protein name	NADPH oxidase 5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79400
EC number
Protein Class	NADPH OXIDASE (PTHR11972)

Descriptions

Nox5 is a member of the NADPH oxidases (NOX) family and contains the regulatory N-terminus EF-hand domain (NOX5-EF) and the catalytic C-terminal dehydrogenase domain (CDHD). The NOX5-EF interacts directly with the CDHD in a Ca2+-dependent manner, leading to its activation. The interaction site is composed of two short segments, the regulatory EF-hand-binding domain (REFBD), and the phosphorylation region (PhosR). The REFBD is autoinhibitory and the inhibition is relieved by NOX5-EF. Phosphorylation of residues within PhosR increases Ca2+ sensitivity of NOX5.

Autoinhibitory domains (AIDs)

Target domain	403-719 (CDHD)
Relief mechanism	Ligand binding, PTM
Assay	Split protein assay

AID

1-169 (N-terminal regulatory region interacting with CDHD)

Target domain

403-719 (CDHD)

Relief mechanism

Ligand binding (Ca2+ binding to NOX5-EF), PTM (Phosphorylation of PhosR residues)

Assay

Split protein assay

Accessory elements

No accessory elements

References

Tirone F et al. (2010) "Identification of the binding site for the regulatory calcium-binding domain in the catalytic domain of NOX5", Biochemistry, 49, 761-71

Bánfi B et al. (2004) "Mechanism of Ca2+ activation of the NADPH oxidase 5 (NOX5)", The Journal of biological chemistry, 279, 18583-91

Autoinhibited structure

Activated structure

2 structures for Q96PH1

Entry ID	Method	Resolution	Chain	Position	Source
6SZ5	X-ray	223 A	B/C	19-765	PDB
AF-Q96PH1-F1	Predicted				AlphaFoldDB

659 variants for Q96PH1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA392996327 rs1160859677	4	S>Y		No	ClinGen TOPMed
CA272476164 rs1000992615	8	A>G		No	ClinGen TOPMed gnomAD
rs1250748593 CA392996371	8	A>S		No	ClinGen gnomAD
CA392996368 rs1250748593	8	A>T		No	ClinGen gnomAD
CA392996377 rs1000992615	8	A>V		No	ClinGen TOPMed gnomAD
CA272476174 rs995095561	10	T>M		No	ClinGen TOPMed gnomAD
rs149411998 CA7633318	11	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs956752806 CA272476180	11	G>C		No	ClinGen TOPMed gnomAD
CA7633319 rs149411998	11	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149411998 CA272476196	11	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs992006066 CA392996427	13	E>D		No	ClinGen TOPMed gnomAD
CA7633320 rs771234087	14	G>A		No	ClinGen ExAC gnomAD
CA392996436 rs771234087	14	G>D		No	ClinGen ExAC gnomAD
CA272476216 rs7497679	15	C>*		No	ClinGen Ensembl
rs1298860437 CA392996439	15	C>R		No	ClinGen gnomAD
CA392996442 rs1375774733	15	C>Y		No	ClinGen gnomAD
rs1273505871 CA392997767	19	M>I		No	ClinGen TOPMed gnomAD
CA7633333 rs765738668	19	M>K		No	ClinGen ExAC TOPMed gnomAD
rs765738668 CA7633332	19	M>T		No	ClinGen ExAC TOPMed gnomAD
rs756640630 CA7633334	20	S>T		No	ClinGen ExAC gnomAD
CA7633337 rs757537927	22	E>A		No	ClinGen ExAC gnomAD
CA7633336 rs575250197	22	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392997892 rs1355689525	28	L>F		No	ClinGen TOPMed
rs1023485734 CA272485629	29	R>Q		No	ClinGen TOPMed gnomAD
CA7633339 rs543816309	29	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA392997955 rs1395871936	33	Q>R		No	ClinGen gnomAD
CA272485637 rs898742024	34	Q>*		No	ClinGen TOPMed
rs1428704868 CA392997973	34	Q>L		No	ClinGen TOPMed
rs369517329 CA7633341	41	E>*		No	ClinGen ESP ExAC gnomAD
CA7633345 rs768541884	42	D>E		No	ClinGen ExAC gnomAD
rs372895991 CA7633343	42	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs372895991 CA7633344	42	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs147937844 CA392998083	44	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147937844 RCV000919642 CA7633346	44	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1193904942 CA392998099	46	S>T		No	ClinGen TOPMed
rs761647093 CA7633347	47	L>V		No	ClinGen ExAC gnomAD
CA272485680 rs1025861875	50	F>L		No	ClinGen Ensembl
CA392998148 rs1480258472	53	A>D		No	ClinGen TOPMed
CA392998159 rs1206541964	55	H>P		No	ClinGen TOPMed
CA7633349 rs574548422	55	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392998205 rs1413909208 COSM1301378	60	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7633371 rs774121245	60	F>S		No	ClinGen ExAC gnomAD
rs767133281 CA7633373	64	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7633375 rs754404114	64	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7633374 rs754404114 COSM1708343	64	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392998240 rs1330094253 COSM1374275	65	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1374275 CA7633376 rs375222699	65	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs141843018 CA7633377	66	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349084754 CA392998251	67	A>D		No	ClinGen TOPMed gnomAD
CA7633378 rs758759766	67	A>S		No	ClinGen ExAC gnomAD
CA7633380 rs548945801 COSM84296	72	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA7633381 rs147117800	74	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7633382 rs781188939	74	S>R		No	ClinGen ExAC gnomAD
rs1253686938 CA392998304	75	G>D		No	ClinGen gnomAD
rs769577888 CA7633384	77	I>T		No	ClinGen ExAC gnomAD
rs1595772585 CA392998319	78	T>P		No	ClinGen Ensembl
rs925109296 CA272486720	82	L>V		No	ClinGen TOPMed gnomAD
rs989694524 CA272486735	84	E>G		No	ClinGen Ensembl
rs749085550 CA392998372	86	L>M		No	ClinGen ExAC gnomAD
rs770835264 CA7633389	87	T>A		No	ClinGen ExAC gnomAD
rs376970496 CA272486747	88	L>P		No	ClinGen Ensembl
CA7633390 rs774212827	90	I>N		No	ClinGen ExAC TOPMed gnomAD
CA7633392 rs759200679	94	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7633395 rs762413691	95	M>I		No	ClinGen ExAC gnomAD
rs112069106 CA7633394	95	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34097994 CA7633393	95	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1340218158 CA392998435	96	D>G		No	ClinGen gnomAD
rs36036826 CA7633396 RCV000974023	97	K>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1272800447 CA392998445	97	K>N		No	ClinGen gnomAD
rs36036826 CA392998443	97	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7633397 rs148321747	98	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs763287589 CA7633398	101	L>F		No	ClinGen ExAC TOPMed gnomAD
CA392998512 rs1367360379	107	I>F		No	ClinGen gnomAD
rs944825225 CA272486791	108	D>E		No	ClinGen gnomAD
CA7633401 rs755140225	108	D>G		No	ClinGen ExAC gnomAD
rs141492217 CA7633400	108	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392998520 rs755140225	108	D>V		No	ClinGen ExAC gnomAD
rs1425284351 CA392999276	109	V>A		No	ClinGen TOPMed gnomAD
CA392999289 rs1392098336	110	C>S		No	ClinGen TOPMed
CA392999303 rs1453887926	111	A>S		No	ClinGen TOPMed
CA7633420 rs767776363	111	A>V		No	ClinGen ExAC gnomAD
COSM1259359 rs752949926 CA7633421	112	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1174668090 CA392999330	113	Q>H		No	ClinGen TOPMed gnomAD
rs1453086475 CA392999340	114	G>E		No	ClinGen TOPMed
rs368305444 CA7633422	114	G>R		No	ClinGen ExAC TOPMed gnomAD
CA392999334 rs368305444	114	G>W		No	ClinGen ExAC TOPMed gnomAD
rs764166594 CA392999349	115	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764166594 CA7633423	115	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753733900 CA7633424	116	S>T		No	ClinGen ExAC gnomAD
CA7633426 rs757212780	118	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7633425 rs757212780	118	G>V		No	ClinGen ExAC TOPMed gnomAD
CA272488599 rs367806524	121	W>*		No	ClinGen gnomAD
CA392999436 rs367806524	121	W>S		No	ClinGen gnomAD
CA392999457 rs1191380357	123	A>P		No	ClinGen gnomAD
CA392999514 rs1406008186	127	P>Q		No	ClinGen gnomAD
CA392999512 rs1246052358	127	P>T		No	ClinGen Ensembl
CA392999538 rs1413162320	128	H>Q		No	ClinGen gnomAD
rs1459277542 CA392999547	129	W>*		No	ClinGen gnomAD
CA7633429 rs779633500	129	W>R		No	ClinGen ExAC
rs1157654959 CA392999551	130	A>S		No	ClinGen gnomAD
CA272488623 rs943321593	131	S>L		No	ClinGen Ensembl
rs746671904 CA7633430	133	P>T		No	ClinGen ExAC gnomAD
rs1295387731 CA392999572	134	L>I		No	ClinGen gnomAD
CA392999580 rs1386429072	135	G>R		No	ClinGen gnomAD
rs776154979 CA7633433	136	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7633432 rs776154979	136	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7633435 rs774813093	141	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM3932144 CA7633437 rs78571685	143	P>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs775578798 CA7633438	143	P>L		No	ClinGen ExAC gnomAD
CA7633439 rs775578798	143	P>R		No	ClinGen ExAC gnomAD
rs78571685 CA392999651	143	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392999673 rs1487260029	144	D>V		No	ClinGen gnomAD
rs1252966612 CA392999691	145	E>G		No	ClinGen gnomAD
rs753930782 CA7633441	145	E>K		No	ClinGen ExAC gnomAD
rs757381672 CA7633442	146	L>M		No	ClinGen ExAC
rs200180547 CA7633444	146	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633446 rs758338742	147	R>H		No	ClinGen ExAC gnomAD
CA7633445 rs372991107	147	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751190593 CA7633448	148	T>A		No	ClinGen ExAC gnomAD
rs141822986 CA7633449	148	T>I		No	ClinGen ESP ExAC gnomAD
CA272488749 rs747701698	152	S>*		No	ClinGen ExAC TOPMed gnomAD
CA7633451 rs747701698	152	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7633452 rs769279947	153	C>R		No	ClinGen ExAC gnomAD
rs1434145644 CA392999817	154	L>P		No	ClinGen TOPMed
rs1434145644 CA392999819	154	L>R		No	ClinGen TOPMed
rs757259289 CA392999822	155	R>C		No	ClinGen gnomAD
rs757259289 CA272488755	155	R>S		No	ClinGen gnomAD
rs779462144 CA7633453	156	E>A		No	ClinGen ExAC TOPMed gnomAD
CA392999864 rs1174516942	157	S>N		No	ClinGen TOPMed
CA7633454 rs746306193	157	S>R		No	ClinGen ExAC gnomAD
rs772334710 CA7633455	158	A>P		No	ClinGen ExAC gnomAD
CA392999875 rs1483846623	159	I>N		No	ClinGen gnomAD
rs1271033692 CA392999872	159	I>V		No	ClinGen TOPMed gnomAD
rs1014429379 CA272488763	160	S>L		No	ClinGen Ensembl
CA272488762 rs895591410	160	S>P		No	ClinGen Ensembl
CA7633456 rs775877032	161	L>R		No	ClinGen ExAC gnomAD
CA392999896 rs1342566802	163	D>V		No	ClinGen gnomAD
CA7633457 rs760840148	164	E>A		No	ClinGen ExAC gnomAD
rs866041515 CA272488777	164	E>K		No	ClinGen Ensembl
rs914407839 CA272488792	165	K>N		No	ClinGen TOPMed
rs1595775430 CA392999992	167	D>A		No	ClinGen Ensembl
CA7633461 rs762047068	167	D>E		No	ClinGen ExAC gnomAD
rs768963706 CA7633458	167	D>H		No	ClinGen ExAC gnomAD
CA7633459 rs768963706	167	D>N		No	ClinGen ExAC gnomAD
rs1423361472 CA393000024	169	L>V		No	ClinGen gnomAD
rs1567097094 CA393000049	171	L>P		No	ClinGen Ensembl
rs750393447 CA7633462	172	A>E		No	ClinGen ExAC TOPMed gnomAD
rs750393447 CA393000062	172	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393000069 rs1221491354	173	L>F		No	ClinGen gnomAD
CA393000072 rs1392202015	173	L>P		No	ClinGen gnomAD
CA7633463 rs762892565	174	F>L		No	ClinGen ExAC TOPMed gnomAD
CA393000095 rs1353773072	175	E>*		No	ClinGen TOPMed gnomAD
CA393000091 rs1353773072	175	E>K		No	ClinGen TOPMed gnomAD
CA393000092 rs1353773072	175	E>Q		No	ClinGen TOPMed gnomAD
rs766116758 CA7633464	176	S>L		No	ClinGen ExAC TOPMed gnomAD
rs751408513 CA7633465	177	A>T		No	ClinGen ExAC gnomAD
rs1451219779 CA393000137	178	D>N		No	ClinGen TOPMed gnomAD
rs1297717831 CA393000155	179	A>V		No	ClinGen TOPMed gnomAD
rs1595775516 CA393000166	180	D>G		No	ClinGen Ensembl
CA7633467 rs780952498	181	G>R		No	ClinGen ExAC gnomAD
rs780952498 CA393000177	181	G>S		No	ClinGen ExAC gnomAD
rs578156234 CA272488829	182	N>S		No	ClinGen 1000Genomes gnomAD
rs752341477 CA7633468 COSM3420566	183	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7633470 rs777205240	184	A>D		No	ClinGen ExAC gnomAD
rs755625779 CA7633469	184	A>T		No	ClinGen ExAC gnomAD
rs746394410 CA7633472	185	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM3401888 CA7633474 rs780394300	188	E>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA393000260 rs780394300	188	E>K		No	ClinGen ExAC gnomAD
rs1445954632 CA393000274	189	E>K		No	ClinGen TOPMed gnomAD
rs747450738 CA7633475	190	L>F		No	ClinGen ExAC gnomAD
CA7633476 rs138995495	190	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA272488865 rs149875802	191	R>G		No	ClinGen ESP TOPMed
rs777063143 CA7633478	191	R>L		No	ClinGen ExAC gnomAD
rs777063143 CA7633479	191	R>P		No	ClinGen ExAC gnomAD
CA393000356 rs773383624	192	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7633481 rs773383624	192	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7633480 rs770010452	192	D>N		No	ClinGen ExAC TOPMed gnomAD
rs762907300 CA393000370	193	E>*		No	ClinGen ExAC TOPMed gnomAD
CA393000375 rs1367901516	193	E>G		No	ClinGen gnomAD
CA393000361 rs762907300	193	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762907300 CA7633482	193	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs766385466 CA7633483	195	Q>R		No	ClinGen ExAC gnomAD
rs1276963274 CA393000406	196	R>G		No	ClinGen gnomAD
rs759442435 CA7633485	197	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1466864762 CA393000445	198	P>A		No	ClinGen TOPMed gnomAD
CA393000442 rs1466864762	198	P>T		No	ClinGen TOPMed gnomAD
rs537198989 CA7633488	199	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs763627527 CA7633489	200	V>D		No	ClinGen ExAC gnomAD
CA7633490 rs753430216	201	M>L		No	ClinGen ExAC gnomAD
rs377391333 CA7633491	201	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422885746 CA393000489	203	N>K		No	ClinGen gnomAD
rs755378663 CA7633494	205	T>S		No	ClinGen ExAC
CA393000509 rs1286487147	207	S>R		No	ClinGen TOPMed
rs112225328 CA272489633	208	A>T		No	ClinGen Ensembl
CA7633528 rs749863426	208	A>V		No	ClinGen ExAC gnomAD
rs768194399 CA7633531	210	H>L		No	ClinGen ExAC gnomAD
rs762527322 CA7633530	210	H>N		No	ClinGen ExAC gnomAD
rs768194399 CA7633532	210	H>R		No	ClinGen ExAC gnomAD
CA7633533 rs756548721	211	W>*		No	ClinGen ExAC gnomAD
rs757380065 CA7633536	212	L>R		No	ClinGen ExAC TOPMed gnomAD
rs777941352 CA7633534	212	L>V		No	ClinGen ExAC TOPMed gnomAD
rs367936883 CA7633538	213	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs367936883 CA393001321	213	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393001341 rs1276492567	214	A>V		No	ClinGen gnomAD
rs1337255003 CA393001349	215	P>L		No	ClinGen TOPMed gnomAD
rs1256719345 CA393001363	216	A>D		No	ClinGen TOPMed gnomAD
CA393001356 rs1264697147	216	A>P		No	ClinGen TOPMed
CA7633541 rs1264697147	216	A>T		No	ClinGen TOPMed
CA393001367 rs1256719345	216	A>V		No	ClinGen TOPMed gnomAD
rs1051227637 CA272489688	217	P>L		No	ClinGen Ensembl
rs1242066995 CA393001389	218	R>H		No	ClinGen gnomAD
rs1242066995 CA393001391	218	R>P		No	ClinGen gnomAD
CA393001386 rs1181143548	218	R>S		No	ClinGen gnomAD
CA7633544 rs780034662	220	R>C		No	ClinGen ExAC TOPMed gnomAD
CA272489699 rs780034662	220	R>G		No	ClinGen ExAC TOPMed gnomAD
rs746885049 CA7633545	220	R>H		No	ClinGen ExAC gnomAD
CA393001404 rs746885049	220	R>P		No	ClinGen ExAC gnomAD
rs1027542305 CA272489706	221	P>Q		No	ClinGen TOPMed
CA7633546 rs768457645	222	R>H		No	ClinGen ExAC gnomAD
CA7633547 rs768457645	222	R>L		No	ClinGen ExAC gnomAD
CA393001413 rs768457645	222	R>P		No	ClinGen ExAC gnomAD
rs761561645 CA7633548	223	R>G		No	ClinGen ExAC TOPMed
rs761561645 CA393001414	223	R>W		No	ClinGen ExAC TOPMed
CA7633550 rs772903992	224	P>L		No	ClinGen ExAC gnomAD
rs1366095866 CA393001425	225	R>C		No	ClinGen gnomAD
rs753269548 CA393001427	225	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7633553 rs753269548	225	R>P		No	ClinGen ExAC TOPMed gnomAD
rs942921888 CA272489721	226	Q>R		No	ClinGen Ensembl
rs983510616 CA272489723	228	T>A		No	ClinGen TOPMed
rs761215079 CA7633554	229	R>C		No	ClinGen ExAC gnomAD
rs1226355570 CA393001451	230	A>P		No	ClinGen gnomAD
rs1039937162 CA272489729	232	W>R		No	ClinGen gnomAD
rs1347033652 CA393001509	235	H>Y		No	ClinGen gnomAD
CA7633555 rs764548905	239	L>M		No	ClinGen ExAC TOPMed gnomAD
rs764548905 CA7633556	239	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1388317521 CA393001599	241	C>W		No	ClinGen TOPMed gnomAD
CA393001605 rs1595776989	242	L>Q		No	ClinGen Ensembl
CA393001610 rs1422154741	243	A>T		No	ClinGen TOPMed
COSM3786558 CA393001619 rs1464988624	243	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA393001629 rs1210089577	244	T>I		No	ClinGen gnomAD
CA7633558 rs779063976	246	A>E		No	ClinGen ExAC TOPMed gnomAD
rs757620496 CA7633557	246	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1379801296 CA393001661	247	G>D		No	ClinGen gnomAD
rs750639686 CA7633559	247	G>S		No	ClinGen ExAC gnomAD
rs1379801296 CA393001665	247	G>V		No	ClinGen gnomAD
CA393001696 rs1479735189	250	V>L		No	ClinGen gnomAD
rs758478069 CA7633560	252	L>F		No	ClinGen ExAC TOPMed gnomAD
rs758478069 CA272489750	252	L>V		No	ClinGen ExAC TOPMed gnomAD
rs746976061 CA7633562	254	G>R		No	ClinGen ExAC gnomAD
rs1384448357 CA393001744	254	G>V		No	ClinGen gnomAD
rs768440845 CA7633563	255	L>P		No	ClinGen ExAC gnomAD
rs143909710 CA7633564	256	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747948199 CA393001790	258	S>R		No	ClinGen ExAC gnomAD
rs769623983 CA7633566	259	A>T		No	ClinGen ExAC gnomAD
CA272489778 rs926188094	260	H>P		No	ClinGen TOPMed gnomAD
rs1047131739 CA272489791	261	R>Q		No	ClinGen TOPMed gnomAD
rs772999086 CA7633567	261	R>W		No	ClinGen ExAC TOPMed gnomAD
rs748888839 CA393001826	262	D>E		No	ClinGen ExAC TOPMed gnomAD
CA393001823 rs1212023833	262	D>G		No	ClinGen gnomAD
CA272489798 rs1004718674	264	G>S		No	ClinGen Ensembl
rs770586168 CA7633570	266	S>R		No	ClinGen ExAC gnomAD
CA393001851 rs1318085702	267	V>I		No	ClinGen TOPMed
CA7633572 rs773958315	268	M>I		No	ClinGen ExAC gnomAD
CA272489815 rs1024181296	268	M>V		No	ClinGen Ensembl
rs759083636 CA7633573	270	A>V		No	ClinGen ExAC gnomAD
CA393001875 rs1157011023	271	K>Q		No	ClinGen gnomAD
CA393001879 rs1363359211	271	K>R		No	ClinGen gnomAD
CA7633574 rs764557559	272	G>R		No	ClinGen ExAC gnomAD
CA393001895 rs311893	273	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393001898 rs1402821034	274	G>C		No	ClinGen gnomAD
CA393001896 rs1402821034	274	G>S		No	ClinGen gnomAD
CA7633576 rs762153076	275	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA272489848 rs1053521711	275	Q>R		No	ClinGen TOPMed gnomAD
rs1230222675 CA393001913	276	C>F		No	ClinGen gnomAD
rs765571934 CA7633577	278	N>D		No	ClinGen ExAC gnomAD
rs750661413 CA7633578	278	N>S		No	ClinGen ExAC TOPMed gnomAD
CA393001933 rs1245021363	279	F>S		No	ClinGen gnomAD
CA7633580 rs142132873	280	D>G		No	ClinGen ESP ExAC gnomAD
CA7633581 rs751680747	281	C>S		No	ClinGen ExAC gnomAD
rs150003957 CA393001950	282	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150003957 CA7633582	282	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393001963 rs1176039614	283	F>L		No	ClinGen gnomAD
rs1484316725 CA393001958	283	F>L		No	ClinGen gnomAD
CA7633583 rs781056206	284	I>L		No	ClinGen ExAC gnomAD
CA393001974 rs1167029558	285	A>V		No	ClinGen TOPMed gnomAD
CA393002852 rs1595778647	286	V>G		No	ClinGen Ensembl
rs1011319429 CA272490912	286	V>M		No	ClinGen Ensembl
rs1595778669 CA393002922	290	R>S		No	ClinGen Ensembl
CA7633598 rs575904483	291	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7633599 rs763277517	291	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755997260 CA393002991	294	T>P		No	ClinGen Ensembl
rs755997260 CA272490927	294	T>S		No	ClinGen Ensembl
rs1380006193 CA393003028	295	W>*		No	ClinGen gnomAD
CA393003039 rs1365219313	296	L>V		No	ClinGen TOPMed
CA272490935 rs1048138065	297	R>Q		No	ClinGen TOPMed gnomAD
rs141772528 CA7633601	297	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000968307 rs145609289 CA7633603	299	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs560982375 CA7633602	299	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7633605 rs34406284 RCV000967370	300	W>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1250403276 CA393003166	303	Q>E		No	ClinGen gnomAD
rs1595778721 CA393003172	303	Q>P		No	ClinGen Ensembl
rs1261308818 CA393003207	306	P>L		No	ClinGen gnomAD
rs1209470726 CA393003242	309	Q>E		No	ClinGen TOPMed gnomAD
CA7633608 rs150192251	311	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184488444 CA393003383	315	Q>H		No	ClinGen gnomAD
rs1433682516 CA393003402	316	L>H		No	ClinGen gnomAD
rs778774998 CA7633609	316	L>I		No	ClinGen ExAC gnomAD
CA7633611 rs745458933	317	M>T		No	ClinGen ExAC gnomAD
CA272490986 rs374521084	318	G>S		No	ClinGen Ensembl
CA7633612 rs771498464	319	Y>C		No	ClinGen ExAC gnomAD
rs1250033203 CA393003510	320	V>A		No	ClinGen TOPMed
CA7633614 rs748636955	320	V>M		No	ClinGen ExAC gnomAD
rs1269967991 CA393003513	321	V>I		No	ClinGen gnomAD
CA7633615 rs770330811	323	G>R		No	ClinGen ExAC gnomAD
rs1225854176 CA393003558	325	S>Y		No	ClinGen gnomAD
rs773690064 CA7633616	327	V>M		No	ClinGen ExAC gnomAD
rs1460324592 CA393003593	328	H>P		No	ClinGen TOPMed gnomAD
rs148950714 CA7633619	330	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633620 rs774447174	333	T>A		No	ClinGen ExAC gnomAD
CA272491026 rs984450914	333	T>S		No	ClinGen Ensembl
rs1388804513 CA393003698	336	F>S		No	ClinGen TOPMed
rs1240479354 CA393003761	337	V>A		No	ClinGen TOPMed
CA393003826 COSM555876 rs375359043	342	A>G	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7633643 rs145707093	342	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633644 rs375359043	342	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764203286 CA7633648	344	A>P		No	ClinGen ExAC TOPMed gnomAD
rs764203286 CA7633647	344	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761795660 CA7633649	346	P>A		No	ClinGen ExAC gnomAD
CA393003872 rs761795660	346	P>S		No	ClinGen ExAC gnomAD
CA393003892 rs547178349	347	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547178349 CA7633650	347	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393003886 rs1241230544	347	F>Y		No	ClinGen TOPMed
CA393003907 rs750275364	348	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA393003896 rs1311242821	348	Q>K		No	ClinGen TOPMed
rs758110428 CA7633652	349	F>L		No	ClinGen ExAC TOPMed gnomAD
rs779817373 CA7633653	350	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1289298393 CA393003926	350	W>R		No	ClinGen gnomAD
rs1595779139 CA393003957	355	T>P		No	ClinGen Ensembl
rs139834712 CA7633655	356	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393003967 rs139834712	356	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7633657 rs749823410	361	G>A		No	ClinGen ExAC gnomAD
CA393004018 rs749823410	361	G>V		No	ClinGen ExAC gnomAD
CA393004033 rs1219645116	362	W>L		No	ClinGen gnomAD
CA7633658 rs757800608	363	V>G		No	ClinGen ExAC gnomAD
rs961014614 CA272491264	364	H>Y		No	ClinGen Ensembl
CA7633660 rs746301667	365	G>S		No	ClinGen ExAC TOPMed gnomAD
rs769118589 CA7633661	366	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1394882321 CA393004115	369	P>L		No	ClinGen TOPMed gnomAD
CA393004128 rs1334913130	370	T>I		No	ClinGen gnomAD
CA393004117 rs1409969445	370	T>P		No	ClinGen gnomAD
rs1408457178 CA393004131	371	G>R		No	ClinGen gnomAD
CA393004140 rs1184815748	372	V>I		No	ClinGen gnomAD
rs747170160 CA7633663	373	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7633664 rs768880926	373	A>V		No	ClinGen ExAC gnomAD
CA272491288 rs865943060	379	L>P		No	ClinGen Ensembl
rs1271716481 CA393004269	379	L>V		No	ClinGen gnomAD
CA7633665 rs12907196	380	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263191893 CA393004308	381	M>L		No	ClinGen gnomAD
rs946890333 CA272491303	381	M>T		No	ClinGen TOPMed
CA393004311 rs1263191893	381	M>V		No	ClinGen gnomAD
rs761957002 CA7633667	383	I>V		No	ClinGen ExAC gnomAD
rs1289812032 CA393004402	384	C>F		No	ClinGen TOPMed
rs765271432 CA7633668	386	S>G		No	ClinGen ExAC gnomAD
CA393004488 rs1243525672	388	C>Y		No	ClinGen TOPMed
rs773013901 CA7633669	390	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7633670 rs765109146	390	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393004543 rs765109146	390	R>L		No	ClinGen ExAC TOPMed gnomAD
rs751230535 CA7633672	391	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7633673 rs754582917	392	S>I		No	ClinGen ExAC gnomAD
CA393004624 rs1389564073	393	G>D		No	ClinGen TOPMed gnomAD
rs1297089623 CA393004635	394	H>Y		No	ClinGen TOPMed
rs752251538 CA7633675	395	F>V		No	ClinGen ExAC TOPMed gnomAD
rs755605702 CA7633677	396	E>D		No	ClinGen ExAC gnomAD
CA272492034 rs146255161	399	Y>C		No	ClinGen ESP TOPMed gnomAD
CA393005355 rs1294373869	402	H>Y		No	ClinGen gnomAD
CA393005373 rs1595780153	403	L>M		No	ClinGen Ensembl
rs148060387 CA7633719	404	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA272492060 rs78158861	406	L>P		No	ClinGen Ensembl
rs1175553251 CA393005424	406	L>V		No	ClinGen gnomAD
rs77073843 CA7633721	407	L>F		No	ClinGen ExAC TOPMed gnomAD
CA393005444 rs1567100650	407	L>R		No	ClinGen Ensembl
rs141804052 COSM964380 CA7633724	408	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA393005550 rs1163819289	413	I>T		No	ClinGen gnomAD
rs756327286 CA7633726	415	H>Q		No	ClinGen ExAC gnomAD
rs778032154 CA7633727	416	G>E		No	ClinGen ExAC gnomAD
CA393005630 rs1567100697	417	P>A		No	ClinGen Ensembl
rs749384097 CA393005650	418	N>I		No	ClinGen ExAC gnomAD
rs749384097 CA7633728	418	N>S		No	ClinGen ExAC gnomAD
CA272492098 rs867908767	420	W>*		No	ClinGen TOPMed
rs1595780217 CA393005681	420	W>*		No	ClinGen Ensembl
rs1363661853 CA393005712	421	K>M		No	ClinGen TOPMed
rs1191501417 CA393005746	424	L>P		No	ClinGen gnomAD
CA272492109 rs938716818	425	V>A		No	ClinGen gnomAD
rs778826232 CA7633731	426	P>S		No	ClinGen ExAC gnomAD
rs745747004 CA7633732	427	G>E		No	ClinGen ExAC gnomAD
CA7633733 rs774525088	429	L>S		No	ClinGen ExAC TOPMed gnomAD
CA7633734 rs775226091	430	F>L		No	ClinGen ExAC TOPMed gnomAD
CA393005784 rs1417158302	431	F>L		No	ClinGen gnomAD
rs768244574 CA7633736	433	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776336697 CA7633737	435	A>T		No	ClinGen ExAC gnomAD
CA272492155 rs1057242566	436	I>V		No	ClinGen gnomAD
CA7633739 rs564148426	437	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393005827 rs1461039044	438	L>M		No	ClinGen gnomAD
CA7633740 rs752129347	438	L>Q		No	ClinGen ExAC gnomAD
rs760076325 CA7633741	439	A>S		No	ClinGen ExAC gnomAD
rs947926394 CA272492191	439	A>V		No	ClinGen gnomAD
rs753049513 CA7633743	441	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7633745 rs764287965	442	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373906925 CA7633746	442	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373906925 CA272492209	442	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373906925 CA272492206	442	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs144275394 CA7633747	446	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs368482877 CA272492215	449	M>T		No	ClinGen ESP TOPMed gnomAD
CA7633748 rs778914512	450	E>K		No	ClinGen ExAC gnomAD
rs1213214775 CA393005907	451	V>D		No	ClinGen gnomAD
rs745836858 CA7633749	452	N>S		No	ClinGen ExAC gnomAD
CA393005921 rs1237439411	453	L>H		No	ClinGen TOPMed
CA272492220 rs973932321	455	P>A		No	ClinGen TOPMed
CA393005940 rs973932321	455	P>S		No	ClinGen TOPMed
CA7633750 rs758373081	457	K>E		No	ClinGen ExAC TOPMed gnomAD
CA393006366 rs1201556520	459	T>P		No	ClinGen gnomAD
CA393006428 rs1479526309	463	I>S		No	ClinGen gnomAD
rs117880022 CA7633768	465	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7633769 rs117880022	465	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769784392 CA7633767	465	R>W		No	ClinGen ExAC TOPMed gnomAD
CA393006459 rs145542415	466	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1481097255 CA393006462	466	P>H		No	ClinGen TOPMed
rs145542415 CA7633772	466	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145542415 CA7633771	466	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393006473 rs1427072071	467	P>R		No	ClinGen gnomAD
rs780995593 CA7633773	469	F>S		No	ClinGen ExAC TOPMed gnomAD
CA7633774 rs571496052	470	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA272493106 rs1044991006	470	H>Y		No	ClinGen gnomAD
rs769615321 CA7633775	471	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1405520398 CA393006586	473	P>A		No	ClinGen gnomAD
CA272493114 rs936208951	473	P>L		No	ClinGen TOPMed
rs772982711 CA7633776	480	N>H		No	ClinGen ExAC TOPMed gnomAD
rs748872374 CA7633777	482	P>A		No	ClinGen ExAC gnomAD
CA272493119 rs891771086	483	T>I		No	ClinGen Ensembl
rs775873343 CA7633779	484	I>T		No	ClinGen ExAC TOPMed gnomAD
rs749245752 COSM964382 CA7633781	486	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs373021512 CA7633782	486	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373021512 CA272493127	486	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633784 rs148791297	487	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376759060 CA7633785	488	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1017822533 CA272493137	491	P>L		No	ClinGen gnomAD
CA393007021 rs900336435	496	S>I		No	ClinGen TOPMed
CA272493141 rs900336435	496	S>N		No	ClinGen TOPMed
CA7633786 rs763028625	497	A>P		No	ClinGen ExAC TOPMed gnomAD
CA272493149 rs370082662	500	Q>*		No	ClinGen ESP TOPMed gnomAD
rs374464869 CA393007123	502	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374464869 CA7633788	502	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633812 rs777690380	503	T>A		No	ClinGen ExAC gnomAD
CA393007762 rs777690380	503	T>P		No	ClinGen ExAC gnomAD
CA393007782 rs1255084042	504	I>N		No	ClinGen TOPMed gnomAD
rs1312291321 CA393007777	504	I>V		No	ClinGen TOPMed gnomAD
CA7633813 rs753585934	506	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1195799918 CA393007829	507	H>Y		No	ClinGen gnomAD
rs1177232943 CA393007869	509	R>Q		No	ClinGen gnomAD
CA7633814 rs756965311	509	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1431597936 CA393007898	511	Q>P		No	ClinGen gnomAD
CA7633815 rs778379511	512	G>D		No	ClinGen ExAC gnomAD
rs771415063 CA7633817	514	W>*		No	ClinGen ExAC gnomAD
CA393007975 rs1382965422	514	W>R		No	ClinGen TOPMed
CA7633818 rs781712511	515	T>A		No	ClinGen ExAC TOPMed gnomAD
CA393008006 rs1320047537	515	T>I		No	ClinGen gnomAD
CA393008042 rs1290348152	517	R>K		No	ClinGen TOPMed
CA393008052 rs1338330106	517	R>S		No	ClinGen gnomAD
CA393008087 rs1335298135	519	Y>C		No	ClinGen gnomAD
rs188696954 CA7633819	520	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393008092 rs1399390610	520	E>K		No	ClinGen gnomAD
CA7633820 rs770190007	521	S>F		No	ClinGen ExAC TOPMed
CA393008118 rs2277553	523	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7633821 rs2277553	523	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393008145 rs1286203947	528	L>V		No	ClinGen TOPMed gnomAD
CA7633825 rs774373542	529	G>D		No	ClinGen ExAC gnomAD
rs774373542 CA7633824	529	G>V		No	ClinGen ExAC gnomAD
CA272494618 rs935376693	530	R>C		No	ClinGen TOPMed gnomAD
rs140448769 CA7633826	530	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272494622 rs945176894	531	G>R		No	ClinGen TOPMed gnomAD
CA393008175 rs1198264380	533	K>N		No	ClinGen gnomAD
rs1293224245 CA393008183	534	R>S		No	ClinGen TOPMed
CA7633827 rs528236853	536	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756943834 CA7633831	541	M>I		No	ClinGen ExAC gnomAD
CA7633829 rs200973078	541	M>K		No	ClinGen ExAC TOPMed gnomAD
rs200973078 CA7633830	541	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1369657794 CA393008248	544	S>R		No	ClinGen gnomAD
rs1228438558 CA393008252	545	Q>K		No	ClinGen TOPMed
CA7633833 rs764946074	547	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM964383 rs764946074 CA7633832	547	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA393008282 rs1335971562	549	K>N		No	ClinGen TOPMed gnomAD
CA272496169 rs1045447166	550	G>V		No	ClinGen Ensembl
CA7633855 rs754423017	554	L>I		No	ClinGen ExAC gnomAD
CA7633856 rs778323357	558	H>R		No	ClinGen ExAC gnomAD
rs1399087112 CA393009303	561	C>Y		No	ClinGen gnomAD
CA7633858 rs545190178	563	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7633859 rs545190178	563	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7633878 rs779428229	565	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7633879 rs750766892	566	Y>*		No	ClinGen ExAC gnomAD
CA272496476 rs571739852	567	I>V		No	ClinGen TOPMed gnomAD
rs780489729 CA7633882	568	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1192433683 CA393010002	568	D>V		No	ClinGen gnomAD
CA393010011 rs1422615402	569	G>R		No	ClinGen gnomAD
CA393010013 rs1422615402	569	G>R		No	ClinGen gnomAD
rs984996094 CA272496489	570	P>T		No	ClinGen TOPMed gnomAD
CA393010113 rs1280013592	575	T>I		No	ClinGen TOPMed
rs370856638 CA7633886	576	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_055820 CA7633887 rs2277552	576	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA272496508 rs565188759	582	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA393010208 rs565188759	582	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA393010219 rs1595787765	583	H>R		No	ClinGen Ensembl
CA393010247 rs1214209867	584	A>V		No	ClinGen gnomAD
CA7633894 rs759159780	585	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7633893 rs759159780	585	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7633897 rs765666935	588	G>E		No	ClinGen ExAC gnomAD
rs188055665 CA7633896	588	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750961160 CA393010318	589	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750961160 CA7633898	589	A>T		No	ClinGen ExAC TOPMed gnomAD
rs867572881 CA272496532	592	G>D		No	ClinGen Ensembl
COSM1517602 CA7633901 rs145431252	592	G>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7633902 rs755183645	593	I>F		No	ClinGen ExAC gnomAD
CA393010385 rs1595787827	594	T>P		No	ClinGen Ensembl
CA393010403 rs1213407564	595	P>A		No	ClinGen TOPMed
rs138054307 CA7633903	595	P>L		No	ClinGen ESP ExAC gnomAD
CA7633904 rs138054307	595	P>R		No	ClinGen ESP ExAC gnomAD
CA393010401 rs1213407564	595	P>T		No	ClinGen TOPMed
rs756218127 CA7633905	596	F>I		No	ClinGen ExAC gnomAD
CA393010437 rs1333556911	597	A>P		No	ClinGen gnomAD
CA393010458 rs1237680922	598	S>C		No	ClinGen TOPMed gnomAD
rs1230091194 CA393010451	598	S>T		No	ClinGen TOPMed
CA393010462 rs1308334066	599	I>V		No	ClinGen gnomAD
CA7633907 rs546652219	603	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs770756222 CA7633908	604	M>T		No	ClinGen ExAC TOPMed gnomAD
CA272496554 rs371589839	604	M>V		No	ClinGen Ensembl
rs774163753 CA7633909	605	Y>*		No	ClinGen ExAC gnomAD
rs1008470344 CA272496572	605	Y>S		No	ClinGen Ensembl
rs745615844 CA7633910	606	R>G		No	ClinGen ExAC gnomAD
CA393010689 rs1195905240	607	H>Q		No	ClinGen gnomAD
CA393010730 rs1394961056	609	K>N		No	ClinGen TOPMed
CA393010733 rs1465193774	610	R>G		No	ClinGen gnomAD
rs7167318 CA393010755	611	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7633928 rs7167318	611	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272496750 rs985856607	612	H>Y		No	ClinGen TOPMed gnomAD
CA393010839 rs1567106557	616	S>R		No	ClinGen Ensembl
rs1400593879 CA393010904	619	H>Y		No	ClinGen gnomAD
rs768089495 CA7633932	620	S>F		No	ClinGen ExAC gnomAD
rs776309553 CA7633933	621	W>R		No	ClinGen ExAC gnomAD
CA393010972 rs1256164380	623	E>K		No	ClinGen gnomAD
rs1346690203 CA393011006	625	V>I		No	ClinGen gnomAD
rs1488884773 CA393011091	629	M>T		No	ClinGen gnomAD
CA272496756 rs372286449	631	L>P		No	ClinGen ESP TOPMed gnomAD
rs552992488 CA7633935	632	H>R		No	ClinGen 1000Genomes ExAC
CA393011281 rs1384590011	634	V>E		No	ClinGen gnomAD
rs1242756507 CA393011301	637	I>F		No	ClinGen gnomAD
CA393011303 rs1307601056	637	I>N		No	ClinGen gnomAD
rs1307601056 CA393011304	637	I>T		No	ClinGen gnomAD
rs1390603839 CA393011313	638	W>*		No	ClinGen TOPMed
CA272497188 rs972954645	639	I>T		No	ClinGen Ensembl
CA393011329 rs760891514	640	N>K		No	ClinGen ExAC TOPMed gnomAD
CA272497194 rs368219978	641	R>T		No	ClinGen Ensembl
rs139553033 CA7633962	644	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7633961 rs147362304 COSM1608626	644	R>W	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs758389674 CA7633965	647	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1236176300 CA393011381	648	W>L		No	ClinGen gnomAD
CA7633966 rs779803473	649	F>Y		No	ClinGen ExAC gnomAD
rs954740123 CA272497220	650	V>A		No	ClinGen TOPMed
rs751380171 CA7633967	650	V>M		No	ClinGen ExAC TOPMed gnomAD
CA393011434 rs1400550002	657	E>*		No	ClinGen gnomAD
CA393011448 rs1595788904	658	M>I		No	ClinGen Ensembl
CA272497228 rs990795848	658	M>T		No	ClinGen gnomAD
CA393011451 rs1595788908	659	D>Y		No	ClinGen Ensembl
rs943288638 CA393011458	660	Q>*		No	ClinGen TOPMed gnomAD
CA272497233 rs943288638	660	Q>K		No	ClinGen TOPMed gnomAD
CA393011461 rs1397000950	660	Q>R		No	ClinGen gnomAD
rs1315374561 CA393011469	661	A>V		No	ClinGen gnomAD
CA272497245 rs914946455	662	E>G		No	ClinGen TOPMed
CA7633973 rs774536693	662	E>K		No	ClinGen ExAC TOPMed gnomAD
rs946793188 CA272497248	663	E>D		No	ClinGen gnomAD
rs1258863213 CA393011485	664	A>S		No	ClinGen TOPMed gnomAD
rs1258863213 CA393011483	664	A>T		No	ClinGen TOPMed gnomAD
rs772649181 CA393011506	667	G>C		No	ClinGen ExAC TOPMed gnomAD
CA7633975 rs772649181	667	G>S		No	ClinGen ExAC TOPMed gnomAD
rs769046961 CA7633997	668	R>C		No	ClinGen ExAC gnomAD
rs769046961 CA7633998	668	R>G		No	ClinGen ExAC gnomAD
CA272458104 rs562414382	668	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA392993705 rs1213812059	673	H>R		No	ClinGen gnomAD
rs1406600190 CA392993714	674	M>I		No	ClinGen TOPMed
CA392993709 rs1241065974	674	M>L		No	ClinGen gnomAD
rs770064522 CA7634000	674	M>T		No	ClinGen ExAC gnomAD
rs1241065974 CA392993710	674	M>V		No	ClinGen gnomAD
CA7634002 rs763157646	675	Y>*		No	ClinGen ExAC
rs773236709 CA7634001	675	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA7634003 rs531415354	676	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3690659 CA392993724 rs1422638049	676	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7634006 rs767517507	684	D>N		No	ClinGen ExAC gnomAD
rs925828327 CA272458150	685	M>T		No	ClinGen Ensembl
rs1317686659 CA392993784	685	M>V		No	ClinGen gnomAD
CA7634008 rs755907787	688	I>V		No	ClinGen ExAC
rs763873667 CA7634009	689	G>D		No	ClinGen ExAC
CA392993820 rs1466137058	690	L>P		No	ClinGen gnomAD
rs1260291596 CA392993850	695	D>N		No	ClinGen TOPMed
CA392993860 rs1291949724	696	L>F		No	ClinGen gnomAD
CA7634012 rs778254437	698	A>T		No	ClinGen ExAC TOPMed gnomAD
CA272458212 rs774199516	699	N>D		No	ClinGen Ensembl
CA7634013 rs145871646	699	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7634014 rs145871646	699	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781620530 CA7634015	705	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7634016 rs748513647	706	I>T		No	ClinGen ExAC gnomAD
CA7634017 rs770046307	707	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1223132076 CA392993936	708	G>R		No	ClinGen TOPMed gnomAD
rs1467795932 CA392993948	710	Q>*		No	ClinGen gnomAD
CA7634020 rs771147582	711	T>A		No	ClinGen ExAC gnomAD
CA7634021 rs774597800	711	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767570585 CA7634023	712	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7634024 rs144201182	712	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA272458302 rs144201182	712	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392993966 rs1318335518	713	T>I		No	ClinGen TOPMed
CA392993983 rs1162855199	715	P>H		No	ClinGen gnomAD
rs567904993 CA7634025	716	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567904993 CA392993992	716	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527628160 COSM1678557 CA7634027	717	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs146556831 CA7634026	717	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7634028 rs761400978	720	W>*		No	ClinGen ExAC gnomAD
rs1595793439 CA392994061	721	S>N		No	ClinGen Ensembl
rs1278815406 CA392994078	722	K>*		No	ClinGen gnomAD
rs569229602 CA272459002	728	A>V		No	ClinGen 1000Genomes
rs762503991 CA7634048	729	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753240541 CA7634051	731	K>E		No	ClinGen ExAC
rs112389647 CA272459067	734	K>E		No	ClinGen Ensembl
CA392994275 rs955274600	734	K>N		No	ClinGen TOPMed
CA7634052 rs113164499	735	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392994321 rs1595794227	737	V>G		No	ClinGen Ensembl
CA392994333 rs1414025995	738	F>S		No	ClinGen TOPMed
CA392994363 rs1425711929	740	C>Y		No	ClinGen gnomAD
rs778287717 CA7634054	742	S>F		No	ClinGen ExAC gnomAD
rs1156402632 CA392994394	743	P>R		No	ClinGen TOPMed
CA7634055 rs754162506	743	P>S		No	ClinGen ExAC gnomAD
CA7634056 rs757640814	745	L>V		No	ClinGen ExAC gnomAD
CA392994453 rs1595794266	748	V>G		No	ClinGen Ensembl
CA272459114 rs962395718	748	V>L		No	ClinGen TOPMed
CA7634058 rs746066960	751	G>R		No	ClinGen ExAC TOPMed gnomAD
CA272459123 rs918311223	752	H>R		No	ClinGen gnomAD
CA392994508 rs1159402239	753	C>R		No	ClinGen TOPMed
rs772321172 CA7634059	754	E>G		No	ClinGen ExAC TOPMed gnomAD
rs918112051 CA272459153	755	K>E		No	ClinGen Ensembl
rs1416128883 CA392994562	756	F>C		No	ClinGen TOPMed
CA7634060 rs373378260	756	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7634062 rs768490132	757	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7634063 RCV000967371 VAR_055821 rs7168025	759	R>G		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7634066 rs769559108	760	F>I		No	ClinGen ExAC gnomAD
rs769559108 CA7634065	760	F>L		No	ClinGen ExAC gnomAD
rs1195401419 CA392994629	761	F>L		No	ClinGen Ensembl
rs750318643 CA7634067	762	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA392994643 rs1465129806	763	E>D		No	ClinGen gnomAD
CA392994641 rs1210804757	763	E>G		No	ClinGen TOPMed
rs765970562 CA7634068	763	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765970562 CA392994637	763	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA272459262 rs150976953	764	N>T		No	ClinGen ESP
CA392994660 rs1455368903	766	F>Q		No	ClinGen gnomAD

No associated diseases with Q96PH1

8 regional properties for Q96PH1

Type	Name	Position	InterPro Accession
domain	EF-hand domain	42 - 92	IPR002048-1
domain	EF-hand domain	97 - 200	IPR002048-2
domain	FAD-binding 8	446 - 574	IPR013112
domain	Ferric reductase, NAD binding domain	583 - 753	IPR013121
domain	Ferric reductase transmembrane component-like domain	272 - 413	IPR013130
domain	FAD-binding domain, ferredoxin reductase-type	441 - 577	IPR017927
binding_site	EF-Hand 1, calcium-binding site	70 - 82	IPR018247-1
binding_site	EF-Hand 1, calcium-binding site	178 - 190	IPR018247-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform v2]: Endoplasmic reticulum Cell membrane ; Multi-pass membrane protein	Calcium-sensitive association and dissociation between the N- and C-terminal domains appears to facilitate its localization to the cell membrane
PANTHER Family	PTHR11972	NADPH OXIDASE
PANTHER Subfamily	PTHR11972:SF58	NADPH OXIDASE 5
PANTHER Protein Class	oxidase oxidoreductase
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
ferric-chelate reductase activity	Catalysis of the reaction: 2 Fe3+-siderophore + electron donor -> 2 Fe3+-siderophore + electron acceptor.
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.
NADP binding	Binding to nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH.
proton channel activity	Enables the facilitated diffusion of a hydrogen ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
superoxide-generating NAD(P)H oxidase activity	Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-.

10 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
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.
cytoskeleton-dependent cytokinesis	A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton.
endothelial cell proliferation	The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of reactive oxygen species metabolic process	Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process.
proton transmembrane transport	The directed movement of a proton across a membrane.
reductive iron assimilation	A process in which iron is solubilized by reduction from Fe3+ to Fe2+ via a cell surface reductase and subsequent transport of the iron across the membrane by iron uptake proteins.
regulation of fusion of sperm to egg plasma membrane	Any process that modulates the binding and fusion of a sperm to the oocyte plasma membrane.
superoxide anion generation	The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q948T9	RBOHB	Respiratory burst oxidase homolog protein B	Solanum tuberosum (Potato)	PR
Q948U0	RBOHA	Respiratory burst oxidase homolog protein A	Solanum tuberosum (Potato)	PR
Q2HXK9	RBOHD	Respiratory burst oxidase homolog protein D	Solanum tuberosum (Potato)	PR
Q5ZAJ0	RBOHB	Respiratory burst oxidase homolog protein B	Oryza sativa subsp japonica (Rice)	PR
Q8W110	FRO4	Ferric reduction oxidase 4	Arabidopsis thaliana (Mouse-ear cress)	PR
P92949	CDC5	Ferric reduction oxidase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FJD6	RBOHH	Putative respiratory burst oxidase homolog protein H	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SUT8	RBOHI	Probable respiratory burst oxidase homolog protein I	Arabidopsis thaliana (Mouse-ear cress)	PR
O48538	RBOHF	Respiratory burst oxidase homolog protein F	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FIJ0	RBOHD	Respiratory burst oxidase homolog protein D	Arabidopsis thaliana (Mouse-ear cress)	PR
F4I4K7	FRO3	Ferric reduction oxidase 3, mitochondrial	Arabidopsis thaliana (Mouse-ear cress)	PR
O81211	RBOHE	Respiratory burst oxidase homolog protein E	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNTSGDPAQT	GPEGCRGTMS	AEEDARWLRW	VTQQFKTIAG	EDGEISLQEF	KAALHVKESF
70	80	90	100	110	120
FAERFFALFD	SDRSGTITLQ	ELQEALTLLI	HGSPMDKLKF	LFQVYDIDVC	ARQGASAGTE
130	140	150	160	170	180
WGAGAGPHWA	SSPLGTGSGS	IDPDELRTVL	QSCLRESAIS	LPDEKLDQLT	LALFESADAD
190	200	210	220	230	240
GNGAITFEEL	RDELQRFPGV	MENLTISAAH	WLTAPAPRPR	PRRPRQLTRA	YWHNHRSQLF
250	260	270	280	290	300
CLATYAGLHV	LLFGLAASAH	RDLGASVMVA	KGCGQCLNFD	CSFIAVLMLR	RCLTWLRATW
310	320	330	340	350	360
LAQVLPLDQN	IQFHQLMGYV	VVGLSLVHTV	AHTVNFVLQA	QAEASPFQFW	ELLLTTRPGI
370	380	390	400	410	420
GWVHGSASPT	GVALLLLLLL	MFICSSSCIR	RSGHFEVFYW	THLSYLLVWL	LLIFHGPNFW
430	440	450	460	470	480
KWLLVPGILF	FLEKAIGLAV	SRMAAVCIME	VNLLPSKVTH	LLIKRPPFFH	YRPGDYLYLN
490	500	510	520	530	540
IPTIARYEWH	PFTISSAPEQ	KDTIWLHIRS	QGQWTNRLYE	SFKASDPLGR	GSKRLSRSVT
550	560	570	580	590	600
MRKSQRSSKG	SEILLEKHKF	CNIKCYIDGP	YGTPTRRIFA	SEHAVLIGAG	IGITPFASIL
610	620	630	640	650	660
QSIMYRHQKR	KHTCPSCQHS	WIEGVQDNMK	LHKVDFIWIN	RDQRSFEWFV	SLLTKLEMDQ
670	680	690	700	710	720
AEEAQYGRFL	ELHMYMTSAL	GKNDMKAIGL	QMALDLLANK	EKKDSITGLQ	TRTQPGRPDW
730	740	750	760
SKVFQKVAAE	KKGKVQVFFC	GSPALAKVLK	GHCEKFGFRF	FQENF