AiPD: Autoinhibited Protein Database

Q9H7F0

Gene name	ATP13A3
Protein name	Polyamine-transporting ATPase 13A3
Names	ATPase family homolog up-regulated in senescence cells 1, Putrescine transporting ATPase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79572
EC number	7.6.2.16: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

66-136 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

66-136 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9H7F0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H7F0-F1	Predicted				AlphaFoldDB

693 variants for Q9H7F0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087461	743	R>C	PPH5 [UniProt]	Yes	UniProt
CA355801332 VAR_087462 rs1489314131	855	V>M	PPH5; unknown pathological significance [UniProt]	Yes	ClinGen TOPMed UniProt
CA2762392 rs773544017	2	D>G		No	ClinGen ExAC gnomAD
CA355814938 rs773544017	2	D>V		No	ClinGen ExAC gnomAD
CA355814935 rs1202501578	3	R>G		No	ClinGen TOPMed
rs763790058 CA2762391	4	E>A		No	ClinGen ExAC gnomAD
CA2762388 rs193097657	7	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773820460 CA2762386	10	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2762387 rs773820460	10	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2762384 rs748878225	12	G>D		No	ClinGen ExAC TOPMed gnomAD
rs770522075 CA2762385	12	G>S		No	ClinGen ExAC gnomAD
CA355814854 rs375168836	14	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2762382 rs755737395	15	D>H		No	ClinGen ExAC gnomAD
CA355814833 rs1432085405	17	M>T		No	ClinGen TOPMed
CA2762366 rs530745173	18	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1233612197 CA355814804	19	I>M		No	ClinGen gnomAD
rs770341670 CA2762365	19	I>V		No	ClinGen ExAC gnomAD
CA2762364 rs748775140	20	Y>C		No	ClinGen ExAC gnomAD
rs772621824 CA2762363	22	Y>H		No	ClinGen ExAC gnomAD
rs769448023 CA2762362	23	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769448023 CA355814780	23	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2762361 rs181805829	24	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2762360 rs781676172	26	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355814761 rs781676172	26	R>G		No	ClinGen ExAC TOPMed gnomAD
rs375946103 CA2762359	26	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355814760 rs375946103	26	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355814757 rs1472340530	27	W>R		No	ClinGen TOPMed
rs1405069129 CA355814748	28	K>E		No	ClinGen gnomAD
CA2762358 rs143954739	29	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113966305 CA2762357	30	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196069437 CA355814728	31	I>T		No	ClinGen gnomAD
rs368925396 CA2762355	31	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157828784 CA355814710	34	L>S		No	ClinGen TOPMed
rs1042480191 CA90618151	36	V>L		No	ClinGen Ensembl
rs1478296469 CA355814694	37	I>V		No	ClinGen gnomAD
rs1577079839 CA355814660	42	F>V		No	ClinGen Ensembl
CA355814628 rs1444201406	47	L>F		No	ClinGen gnomAD
CA355814600 CA2762351 rs767284131	50	M>I		No	ClinGen ExAC gnomAD
CA355814607 rs1336981096	50	M>L		No	ClinGen TOPMed
rs1343980850 CA355814594	51	P>L		No	ClinGen gnomAD
CA355814591 rs1339447221	52	E>A		No	ClinGen TOPMed
CA2762349 rs766293428	52	E>D		No	ClinGen ExAC gnomAD
rs759392347 CA2762350	52	E>K		No	ClinGen ExAC gnomAD
rs762829591 CA2762347	54	R>Q		No	ClinGen ExAC gnomAD
CA355814577 rs1318226085	54	R>W		No	ClinGen gnomAD
CA355814570 rs75156964	55	V>A		No	ClinGen ExAC gnomAD
rs75156964 CA2762346	55	V>G		No	ClinGen ExAC gnomAD
rs769481584 CA2762345	56	K>E		No	ClinGen ExAC gnomAD
CA2762344 rs761548381	56	K>R		No	ClinGen ExAC
rs371574320 CA2762340	57	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371574320 CA2762342	57	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2762343 rs776496097	57	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2762341 rs371574320	57	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779027741 CA2762337	58	T>A		No	ClinGen ExAC
CA2762336 rs532951838	58	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2762335 rs754053180	59	C>R		No	ClinGen ExAC
CA2762334 rs777903998	59	C>Y		No	ClinGen ExAC gnomAD
CA355814550 rs1423098151	60	V>L		No	ClinGen gnomAD
rs756352296 CA2762333	62	A>T		No	ClinGen ExAC gnomAD
rs528864161 CA2762331	64	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1188127067 CA549255040	67	C>*		No	ClinGen gnomAD
rs993638271 CA90618068	70	V>M		No	ClinGen TOPMed
rs1472521629 CA355814407	79	K>N		No	ClinGen TOPMed
rs749318302 CA355814398 CA355814399 CA2762317	80	M>I		No	ClinGen ExAC gnomAD
rs777864480 CA2762316	83	C>Y		No	ClinGen ExAC gnomAD
rs753872961 CA2762313	87	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2762314 rs753872961	87	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200264100 CA2762312	87	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2762310 rs189104648	88	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355814349 rs189104648	88	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2762308 rs753356894	89	L>F		No	ClinGen ExAC gnomAD
rs760349735 CA2762306	90	S>P		No	ClinGen ExAC gnomAD
rs1431414511 CA355814324	92	E>V		No	ClinGen TOPMed
CA2762303 rs759753060	97	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1440286805 CA355814266	101	S>P		No	ClinGen gnomAD
CA2762302 rs774710778	102	M>I		No	ClinGen ExAC gnomAD
rs1406955657 CA355814259	102	M>V		No	ClinGen TOPMed gnomAD
CA355814247 rs1382035471	103	S>C		No	ClinGen TOPMed gnomAD
CA2762301 rs201046053	104	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749834029 CA2762300	105	K>E		No	ClinGen ExAC gnomAD
rs773255889 CA2762297	107	S>P		No	ClinGen ExAC gnomAD
rs1217961704 CA355814207	109	G>V		No	ClinGen gnomAD
CA2762296 rs769823675	110	H>R		No	ClinGen ExAC TOPMed gnomAD
rs889279376 CA90617538	110	H>Y		No	ClinGen TOPMed
rs781206365 CA2762294	115	I>T		No	ClinGen ExAC gnomAD
CA355814149 rs1483037494	118	P>S		No	ClinGen TOPMed
CA355814144 rs1403371537	119	T>A		No	ClinGen gnomAD
CA2762292 rs745604321	119	T>S		No	ClinGen ExAC gnomAD
CA355814125 rs1203009003	121	E>D		No	ClinGen TOPMed
rs1477385938 CA355814120	122	N>S		No	ClinGen gnomAD
CA90617499 rs998163979	123	R>T		No	ClinGen TOPMed gnomAD
CA355814106 rs1156846498	124	H>R		No	ClinGen gnomAD
rs1344608045 CA355814108	124	H>Y		No	ClinGen gnomAD
CA355814089 rs1425643584	126	I>M		No	ClinGen TOPMed gnomAD
rs757225046 CA2762290	128	K>I		No	ClinGen ExAC gnomAD
rs557944934 CA2762289	132	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2762286 rs372852497	135	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2762287 rs372852497	135	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2762285 rs374725022	135	Q>R		No	ClinGen ESP ExAC gnomAD
rs756090170 CA355813999	138	R>C		No	ClinGen ExAC gnomAD
CA2762269 rs756090170	138	R>G		No	ClinGen ExAC gnomAD
rs965458233 CA90617156	138	R>H		No	ClinGen TOPMed gnomAD
CA90617164 rs756090170	138	R>S		No	ClinGen ExAC gnomAD
rs1287765523 CA355813991	139	Y>F		No	ClinGen TOPMed
CA355813980 rs1577078431	141	T>P		No	ClinGen Ensembl
rs1305803276 CA355813950	145	V>I		No	ClinGen TOPMed gnomAD
CA2762266 rs754565028	147	Y>C		No	ClinGen ExAC gnomAD
rs751273117 CA2762265	150	N>S		No	ClinGen ExAC TOPMed
CA2762264 rs766727740	152	T>A		No	ClinGen ExAC gnomAD
rs369894599 CA2762263	152	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs202153827 CA2762262	153	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs80091697 CA2762261	155	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs80091697 CA2762260	155	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355813813 rs1294934201	162	L>Q		No	ClinGen gnomAD
rs369943069 CA2762242	166	V>A		No	ClinGen ESP ExAC gnomAD
CA90615757 rs905912627	169	T>M		No	ClinGen TOPMed gnomAD
rs764072939 CA355813758	171	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764072939 CA2762239	171	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200765717 CA2762236	175	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1192016412 CA355813724	175	H>R		No	ClinGen gnomAD
rs1004344770 CA90615722	176	S>N		No	ClinGen TOPMed gnomAD
rs772861128 CA2762234	181	K>E		No	ClinGen ExAC gnomAD
CA90615678 rs1014302186	181	K>N		No	ClinGen Ensembl
CA90615664 rs891844188	186	Y>C		No	ClinGen Ensembl
rs1044150573 CA90614895	195	E>K		No	ClinGen Ensembl
CA355813568 rs892169183	197	A>P		No	ClinGen TOPMed
CA90614888 rs892169183	197	A>S		No	ClinGen TOPMed
CA2762212 rs200896471	198	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234007409 CA355813558	199	K>E		No	ClinGen TOPMed
rs1460132261 CA355813548	200	V>E		No	ClinGen TOPMed
rs1255670474 CA355813549	200	V>M		No	ClinGen TOPMed
rs1001044539 CA90614869	201	P>L		No	ClinGen TOPMed
CA2762209 rs774954255	207	L>V		No	ClinGen ExAC gnomAD
rs1372613496 CA355813501	208	I>V		No	ClinGen TOPMed gnomAD
rs1176717540 CA355813487	210	E>K		No	ClinGen TOPMed
CA355813425 rs1360996381	211	V>I		No	ClinGen gnomAD
CA355813395 rs1560101607	213	N>S		No	ClinGen Ensembl
CA355813294 rs1443192986	221	F>L		No	ClinGen gnomAD
rs1335324848 CA355813289	221	F>S		No	ClinGen gnomAD
rs771998820 CA2762186	223	V>I		No	ClinGen ExAC gnomAD
rs745323041 CA2762185	224	I>T		No	ClinGen ExAC TOPMed gnomAD
rs369464906 CA2762184	232	Y>C		No	ClinGen ExAC gnomAD
CA355813134 rs369464906	232	Y>S		No	ClinGen ExAC gnomAD
CA2762183 rs770577247	233	Y>C		No	ClinGen ExAC gnomAD
rs377247207 CA2762180	238	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2762179 rs748529240	239	V>L		No	ClinGen ExAC gnomAD
CA90613216 rs1049475022	241	M>I		No	ClinGen TOPMed
CA355813011 rs1461622862	242	S>T		No	ClinGen TOPMed
rs1291925112 CA355812992	243	I>M		No	ClinGen TOPMed gnomAD
CA90613203 rs922402040	243	I>T		No	ClinGen TOPMed gnomAD
rs73889875 CA2762178	243	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141547704 CA2762177	246	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355812949 rs780042386	247	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2762175 rs780042386	247	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1224625907 CA355812892	251	Y>C		No	ClinGen gnomAD
rs1350433335 CA355812841	255	K>E		No	ClinGen gnomAD
rs559657505 CA2762174	255	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1421073657 CA355812702	257	Y>H		No	ClinGen gnomAD
rs201347235 CA2762154	258	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs201347235 CA2762155	258	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs757489823 CA2762153	259	M>I		No	ClinGen ExAC gnomAD
CA355812686 rs1170557037	259	M>R		No	ClinGen TOPMed
CA355812687 rs1170557037	259	M>T		No	ClinGen TOPMed
rs767254782 CA2762151	261	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2762150 rs373966491	262	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs751519323 CA2762149	263	M>V		No	ClinGen ExAC gnomAD
CA2762145 rs764945224	269	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2762143 rs370845183	270	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA355812613 rs370845183	270	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2762142 rs768963986	273	S>T		No	ClinGen ExAC gnomAD
rs747542412 CA2762141	275	C>G		No	ClinGen ExAC gnomAD
CA2762122 rs763802985	280	E>D		No	ClinGen ExAC gnomAD
CA355812212 rs1479679204	281	I>M		No	ClinGen TOPMed gnomAD
rs1176867610 CA355812214	281	I>T		No	ClinGen gnomAD
CA355812210 rs1271200464	282	E>Q		No	ClinGen gnomAD
rs544461893 CA90609932	283	E>G		No	ClinGen 1000Genomes TOPMed
rs920067609 CA90609917	284	I>M		No	ClinGen TOPMed gnomAD
CA355812193 rs1464495693	284	I>N		No	ClinGen TOPMed
rs775942431 CA2762120	287	T>A		No	ClinGen ExAC gnomAD
CA355812171 rs746412654	288	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2762118 rs746412654	288	D>N		No	ClinGen ExAC TOPMed gnomAD
CA90609884 rs942898011	292	G>R		No	ClinGen TOPMed
rs1560098405 CA355812137	293	D>G		No	ClinGen Ensembl
rs911472502 CA90609866	295	M>I		No	ClinGen TOPMed
CA355812125 rs1372760641	295	M>L		No	ClinGen TOPMed
CA2762116 rs771056504	296	V>L		No	ClinGen ExAC TOPMed gnomAD
rs370809830 CA2762115	297	I>V		No	ClinGen ESP ExAC gnomAD
CA2762114 rs777800043	300	N>H		No	ClinGen ExAC gnomAD
CA2762113 rs376332864	303	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355812008 rs1161997792	312	N>K		No	ClinGen TOPMed gnomAD
CA2762112 rs534704705	312	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2762110 rs577407836	316	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2762111 rs577407836	316	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs373465535 CA90609812	318	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750446658 CA2762109	318	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1252455236 CA355811953	321	M>V		No	ClinGen TOPMed
CA355811934 rs1200152958	323	T>I		No	ClinGen gnomAD
CA2762106 rs753405659	323	T>S		No	ClinGen ExAC gnomAD
rs1226148366 CA355811708	326	S>G		No	ClinGen TOPMed
CA355811669 rs1295481405	330	T>A		No	ClinGen gnomAD
rs766830223 CA2762078	334	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1337672943 CA355811616	335	P>S		No	ClinGen gnomAD
rs763553701 CA2762077	336	N>D		No	ClinGen ExAC gnomAD
rs534888302 CA2762074	339	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2762075 rs769972140	339	V>L		No	ClinGen ExAC gnomAD
CA2762072 rs764935482	340	D>H		No	ClinGen ExAC gnomAD
CA2762073 rs764935482	340	D>Y		No	ClinGen ExAC gnomAD
rs76165404 CA90608510	341	V>G		No	ClinGen Ensembl
CA355811555 rs1244697749	342	K>E		No	ClinGen gnomAD
CA2762070 rs778885372	343	G>E		No	ClinGen ExAC gnomAD
CA2762068 rs749298818	349	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1445697307 CA355811444	353	T>A		No	ClinGen TOPMed
CA355811439 rs1339450551	353	T>I		No	ClinGen gnomAD
rs1237777693 CA355811428	354	H>Q		No	ClinGen gnomAD
CA2762067 rs777136013	356	R>*		No	ClinGen ExAC gnomAD
CA2762066 rs755718276	356	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752154058 CA2762065	359	L>F		No	ClinGen ExAC gnomAD
rs567475892 CA2762062	364	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1331112150 CA355811317	366	I>T		No	ClinGen TOPMed gnomAD
CA355811298 rs1560096945	368	T>A		No	ClinGen Ensembl
CA2762060 rs758815617	372	T>A		No	ClinGen ExAC gnomAD
rs1420224913 CA355811251	372	T>S		No	ClinGen TOPMed
rs531003211 CA2762059	376	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1158030774 CA355811181	379	I>V		No	ClinGen TOPMed
rs757826019 CA90608473	380	V>G		No	ClinGen Ensembl
rs1164049352 CA355811163	381	V>I		No	ClinGen gnomAD
CA90608466 rs922590049	382	R>G		No	ClinGen TOPMed gnomAD
CA355811018 rs1396623708	389	K>N		No	ClinGen TOPMed
rs757740230 CA2762034	389	K>R		No	ClinGen ExAC TOPMed gnomAD
CA355810987 rs1225484874	393	V>I		No	ClinGen TOPMed gnomAD
CA2762031 rs200421692	394	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1435613000 CA355810978	394	R>S		No	ClinGen gnomAD
CA355810949 rs1319961776	396	I>M		No	ClinGen TOPMed gnomAD
rs1213409167 CA355810918	399	P>R		No	ClinGen TOPMed
rs1429325653 CA355810828	407	Y>C		No	ClinGen TOPMed gnomAD
CA90607963 rs888205475	407	Y>H		No	ClinGen TOPMed
CA355810821 rs1191140940	408	R>G		No	ClinGen gnomAD
rs776103444 CA2762024	409	D>E		No	ClinGen ExAC gnomAD
CA2762025 rs187365649	409	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs187365649 CA2762026	409	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1282881297 CA355810784	410	A>V		No	ClinGen Ensembl
rs762226434 CA90607942	411	Y>C		No	ClinGen Ensembl
CA2762023 rs768220390	412	L>M		No	ClinGen ExAC TOPMed gnomAD
CA355810709 rs1464712995	415	L>V		No	ClinGen gnomAD
rs553358095 CA90607937	416	C>G		No	ClinGen 1000Genomes
rs779696454 CA2762021	419	A>V		No	ClinGen ExAC
rs1577065879 CA355810626	420	V>G		No	ClinGen Ensembl
rs367919891 CA2762019	425	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367919891 CA355810554	425	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355810483 rs1324397409	428	T>S		No	ClinGen gnomAD
CA355810452 rs1218579571	430	I>T		No	ClinGen gnomAD
rs374026620 CA2762017	432	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754457216 CA2762016	432	S>N		No	ClinGen ExAC TOPMed gnomAD
rs777997275 CA2762015	435	N>H		No	ClinGen ExAC gnomAD
CA2762014 rs756197422	436	E>G		No	ClinGen ExAC gnomAD
CA2761991 rs766589100	437	V>I		No	ClinGen ExAC gnomAD
rs1560095651 CA355809435	440	G>A		No	ClinGen Ensembl
CA355809419 rs1560095643	441	V>A		No	ClinGen Ensembl
CA90607374 rs778921503	441	V>F		No	ClinGen Ensembl
rs372992123 CA2761988	445	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA90607323 rs370210374	451	T>A		No	ClinGen ESP
rs760649602 CA2761987	452	I>V		No	ClinGen ExAC gnomAD
rs1299975585 CA355809215	453	T>S		No	ClinGen TOPMed gnomAD
rs987123756 CA90607283	460	A>P		No	ClinGen TOPMed
rs1036894678 CA90607277	462	M>I		No	ClinGen TOPMed
rs907277529 CA90607278	462	M>V		No	ClinGen TOPMed gnomAD
CA355809031 rs1386913589	465	G>C		No	ClinGen gnomAD
rs1026522488 CA90607276	465	G>D		No	ClinGen TOPMed
CA355808997 rs1311612725	467	V>A		No	ClinGen gnomAD
rs1226211346 CA355808938	470	Q>H		No	ClinGen gnomAD
CA2761983 rs773809537	471	R>G		No	ClinGen ExAC gnomAD
rs1210950852 CA355808848	476	I>T		No	ClinGen TOPMed
CA90607272 rs545448462	476	I>V		No	ClinGen 1000Genomes
rs1305465691 CA355808827	477	G>D		No	ClinGen gnomAD
CA2761980 rs754659363	477	G>S		No	ClinGen ExAC TOPMed gnomAD
rs770401895 CA2761979	481	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1368214330 CA355808735	482	S>N		No	ClinGen gnomAD
rs748661382 CA2761978	483	P>T		No	ClinGen ExAC gnomAD
rs1162970033 CA355808678	485	R>I		No	ClinGen gnomAD
CA2761977 rs781326111	487	N>S		No	ClinGen ExAC gnomAD
CA355808565 rs1181629533	492	L>V		No	ClinGen gnomAD
rs1482103773 CA355808531	494	L>V		No	ClinGen gnomAD
rs1224580372 CA355808407	499	K>R		No	ClinGen gnomAD
CA355807548 rs1200932108	501	G>E		No	ClinGen gnomAD
CA355807451 rs1266582038	507	G>D		No	ClinGen gnomAD
CA355807404 rs1189310579	510	L>F		No	ClinGen gnomAD
CA2761956 rs747016199	512	G>R		No	ClinGen ExAC gnomAD
CA2761955 rs780144715	515	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1006562007 CA90602903	516	V>L		No	ClinGen Ensembl
rs1488109921 CA355807291	517	E>K		No	ClinGen gnomAD
CA355807264 rs1264395167	518	N>D		No	ClinGen gnomAD
rs865886278 CA90602886	519	A>S		No	ClinGen gnomAD
rs865886278 CA355807238	519	A>T		No	ClinGen gnomAD
CA2761953 rs369995803	520	R>*		No	ClinGen ESP ExAC gnomAD
CA2761952 rs777543545	520	R>Q		No	ClinGen ExAC gnomAD
rs1297241133 CA355806142	524	P>S		No	ClinGen gnomAD
CA2761939 rs528612672	527	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775538980 CA2761938	528	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1028697317 CA90600658	529	C>F		No	ClinGen TOPMed gnomAD
CA2761936 rs745954332	529	C>G		No	ClinGen ExAC TOPMed gnomAD
rs374929651 CA2761935	530	N>H		No	ClinGen ESP ExAC gnomAD
rs748793955 CA90600656	530	N>S		No	ClinGen Ensembl
rs371768414 CA90600655	531	E>G		No	ClinGen ESP
CA2761933 rs368297588	532	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2761934 rs368297588	532	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374182356 CA2761931	536	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433875093 CA355805887	539	V>I		No	ClinGen TOPMed
rs1055213985 CA90600637	541	C>S		No	ClinGen TOPMed
rs758980820 CA90600627	542	M>L		No	ClinGen Ensembl
rs751614393 CA2761930	544	T>N		No	ClinGen ExAC gnomAD
rs1577060112 CA355805770	545	C>F		No	ClinGen Ensembl
rs780142332 CA2761929	549	T>I		No	ClinGen ExAC gnomAD
CA355805678 rs1253392117	551	I>M		No	ClinGen gnomAD
CA355805685 rs1339483262	551	I>T		No	ClinGen TOPMed
rs757922016 CA2761928	552	E>K		No	ClinGen ExAC gnomAD
CA355805642 rs1483707699	554	V>L		No	ClinGen gnomAD
CA355805643 rs1483707699	554	V>M		No	ClinGen gnomAD
rs1226707973 CA355805632	555	L>I		No	ClinGen gnomAD
rs749972317 CA2761927	555	L>P		No	ClinGen ExAC gnomAD
CA2761925 rs761563568	560	L>F		No	ClinGen ExAC gnomAD
CA2761923 rs764581649	564	M>L		No	ClinGen ExAC gnomAD
CA90600597 rs7433030	566	E>D		No	ClinGen Ensembl
rs141332772 CA2761922	568	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355805363 rs1371144995	569	G>A		No	ClinGen gnomAD
rs866406885 CA90600592	570	W>*		No	ClinGen Ensembl
rs753083395 CA2761895	573	E>K		No	ClinGen ExAC TOPMed
CA90598986 rs780384758	576	T>A		No	ClinGen gnomAD
CA2761894 rs767973072	577	E>K		No	ClinGen ExAC gnomAD
rs760077533 CA2761893	581	A>T		No	ClinGen ExAC gnomAD
rs201810402 CA2761892	581	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2761890 rs375152534	585	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2761891 rs375152534	585	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230012773 CA355804748	587	M>R		No	ClinGen gnomAD
CA355804735 rs1198667108	588	P>S		No	ClinGen gnomAD
rs773425673 CA2761889	589	T>A		No	ClinGen ExAC TOPMed gnomAD
rs190889432 CA2761887	592	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1281817318 CA355804668	592	R>H		No	ClinGen TOPMed
CA355804652 rs1443921127	593	P>L		No	ClinGen TOPMed
rs1328604816 CA355804648	594	P>A		No	ClinGen gnomAD
rs1328604816 CA355804651	594	P>S		No	ClinGen gnomAD
CA90598929 rs12491689	599	P>L		No	ClinGen Ensembl
CA2761885 rs772110759	602	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772110759 CA2761886	602	T>S		No	ClinGen ExAC TOPMed gnomAD
rs745872582 CA2761884	603	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355804500 rs1435546934	605	G>R		No	ClinGen gnomAD
CA2761883 rs778285238	606	N>K		No	ClinGen ExAC gnomAD
CA2761882 rs756722851	607	Q>K		No	ClinGen ExAC gnomAD
rs755744303 CA2761860	614	L>F		No	ClinGen ExAC gnomAD
CA2761859 rs529744750	615	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2761834 rs747367283	616	A>T		No	ClinGen ExAC gnomAD
rs368480743 CA2761833	617	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322009915 CA355803465	618	Y>C		No	ClinGen TOPMed gnomAD
CA355803464 rs1322009915	618	Y>F		No	ClinGen TOPMed gnomAD
rs1001002873 CA90598071	619	E>D		No	ClinGen TOPMed
CA90598070 rs375504912	624	R>C		No	ClinGen ESP TOPMed gnomAD
rs201073939 CA2761831	624	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201073939 CA2761832	624	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1445368674 CA355803370	627	P>S		No	ClinGen TOPMed
rs1351758187 CA355803334	630	S>C		No	ClinGen gnomAD
rs1158008500 CA355803311	633	Q>R		No	ClinGen TOPMed gnomAD
CA2761830 rs779570755	634	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762239826 CA90598013	634	R>H		No	ClinGen ExAC gnomAD
rs762239826 CA2761829	634	R>L		No	ClinGen ExAC gnomAD
CA355803298 rs1371635842	635	M>L		No	ClinGen TOPMed gnomAD
CA355803299 rs1371635842	635	M>V		No	ClinGen TOPMed gnomAD
rs753997515 CA2761828	639	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764374854 CA2761827	639	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2761825 rs760848214	645	R>K		No	ClinGen ExAC gnomAD
CA355803182 rs1234097669	647	M>V		No	ClinGen gnomAD
CA355803155 rs1182821408	650	Y>F		No	ClinGen gnomAD
CA2761823 rs759285507	651	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2761822 rs759285507	651	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2761821 rs773074163	654	A>T		No	ClinGen ExAC gnomAD
rs1488667766 CA355803125	655	P>A		No	ClinGen gnomAD
CA2761819 rs761272945	656	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768328118 CA355803093	660	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768328118 CA2761817	660	G>S		No	ClinGen ExAC TOPMed gnomAD
rs746693356 CA2761816	660	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772255059 CA2761814	664	P>S		No	ClinGen ExAC gnomAD
rs367653264 CA2761812	665	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746252004 CA2761813	665	E>K		No	ClinGen ExAC gnomAD
CA2761811 rs757874820	666	T>K		No	ClinGen ExAC gnomAD
CA2761810 rs753941328	667	V>I		No	ClinGen ExAC gnomAD
rs764524282 CA90597725	669	V>L		No	ClinGen Ensembl
CA2761783 rs190463470	670	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342345526 CA355802991	674	V>F		No	ClinGen gnomAD
CA355802968 rs1477417664	677	D>G		No	ClinGen TOPMed gnomAD
rs1355752045 CA355802955	679	T>A		No	ClinGen TOPMed
rs767050205 CA2761779	680	K>E		No	ClinGen ExAC gnomAD
CA2761777 rs774843209	682	G>A		No	ClinGen ExAC gnomAD
rs1166975045 CA355802920	684	R>C		No	ClinGen TOPMed gnomAD
rs771489579 CA355802916	685	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2761776 rs771489579	685	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749675911 CA2761775	688	L>F		No	ClinGen ExAC gnomAD
rs773535658 CA2761774	689	A>G		No	ClinGen ExAC gnomAD
rs770362727 CA2761773	690	H>Y		No	ClinGen ExAC gnomAD
rs1013783455 CA90597665	694	E>G		No	ClinGen TOPMed gnomAD
rs200066307 CA2761770	694	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780256077 CA2761769	695	S>*		No	ClinGen ExAC gnomAD
CA2761768 rs780256077	695	S>L		No	ClinGen ExAC gnomAD
CA2761766 rs753687565	696	K>Q		No	ClinGen ExAC gnomAD
rs952783100 CA90597635	696	K>R		No	ClinGen Ensembl
rs1218882363 CA355802837	698	T>A		No	ClinGen TOPMed
rs767194515 CA2761762	704	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1160815859 CA355802744	709	A>T		No	ClinGen TOPMed gnomAD
rs890196335 CA90595902	710	I>V		No	ClinGen TOPMed gnomAD
rs781281079 CA2761744	713	N>S		No	ClinGen ExAC gnomAD
rs754481793 CA2761743	714	M>V		No	ClinGen ExAC gnomAD
rs751139654 CA2761742	715	D>E		No	ClinGen ExAC gnomAD
CA355802686 rs1247594847	717	M>V		No	ClinGen TOPMed gnomAD
rs762714187 CA2761740	720	I>V		No	ClinGen ExAC gnomAD
CA2761739 rs376083047	723	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209485318 CA355802634	724	N>D		No	ClinGen gnomAD
rs765699415 CA355802605	727	K>N		No	ClinGen ExAC TOPMed gnomAD
CA355802580 rs1221949371	731	P>S		No	ClinGen gnomAD
rs777061814 CA2761736	733	V>I		No	ClinGen ExAC gnomAD
rs769171357 CA2761735	738	H>R		No	ClinGen ExAC gnomAD
CA2761734 rs760702960	741	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2761733 rs200094676	741	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316861626 CA355802499	743	R>H		No	ClinGen gnomAD
CA2761731 rs138465420	745	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777426658 CA2761730	748	T>A		No	ClinGen ExAC gnomAD
CA355802267 rs1229569835	750	D>N		No	ClinGen gnomAD
rs1049903230 CA90594999	751	S>N		No	ClinGen gnomAD
rs747913642 CA2761711	753	L>F		No	ClinGen ExAC gnomAD
rs768698775 CA2761709	756	V>I		No	ClinGen ExAC gnomAD
CA355802020 rs1279421170	771	V>M		No	ClinGen TOPMed
CA2761706 rs757867475	772	I>V		No	ClinGen ExAC gnomAD
CA355801993 rs1577048689	773	I>T		No	ClinGen Ensembl
CA355801959 rs1201615698	776	A>G		No	ClinGen TOPMed
CA90594992 rs922846933	780	K>R		No	ClinGen gnomAD
CA355801886 rs1316228523	783	K>N		No	ClinGen gnomAD
rs745391944 CA2761705	786	K>R		No	ClinGen ExAC TOPMed gnomAD
rs745391944 CA355801861	786	K>T		No	ClinGen ExAC TOPMed gnomAD
rs778586305 CA2761704	790	H>R		No	ClinGen ExAC TOPMed gnomAD
CA355801802 rs1231002324	791	Y>C		No	ClinGen TOPMed
CA355801801 rs1231002324	791	Y>F		No	ClinGen TOPMed
rs149075344 CA2761703	791	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1480165427 CA355801767	794	S>C		No	ClinGen gnomAD
rs1480165427 CA355801764	794	S>F		No	ClinGen gnomAD
CA90594975 rs919139054	795	L>F		No	ClinGen TOPMed
CA355801752 rs764501190	796	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2761701 rs764501190	796	T>M		No	ClinGen ExAC TOPMed gnomAD
CA90594972 rs759281555	796	T>S		No	ClinGen Ensembl
rs574535436 CA2761699	797	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA355801742 rs1272066518	798	C>R		No	ClinGen gnomAD
rs367867839 CA2761698	800	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774328551 CA2761696	803	A>T		No	ClinGen ExAC gnomAD
rs1391206386 CA355801704	803	A>V		No	ClinGen gnomAD
rs544131462 CA2761694	804	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs766599996 CA2761695	804	I>V		No	ClinGen ExAC gnomAD
CA2761693 rs577037591	806	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2761692 rs768494977	807	E>Q		No	ClinGen ExAC gnomAD
CA355801666 rs1577047981	808	A>T		No	ClinGen Ensembl
rs373556794 CA90594790	809	I>L		No	ClinGen ESP TOPMed gnomAD
rs1035375351 CA90594788	809	I>M		No	ClinGen TOPMed
CA2761667 rs191533427	810	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA90594785 rs191533427	810	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777360115 CA2761665	812	K>E		No	ClinGen ExAC gnomAD
rs370130512 CA2761663	815	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs969115185 CA90594777	819	E>D		No	ClinGen Ensembl
CA355801591 rs1212095324	819	E>G		No	ClinGen gnomAD
rs1298526392 CA355801594	819	E>Q		No	ClinGen TOPMed
rs1372420689 CA355801588	820	D>N		No	ClinGen TOPMed
rs560588545 CA90594775	822	Q>E		No	ClinGen Ensembl
CA355801550 rs1302962095	825	R>C		No	ClinGen TOPMed
CA2761661 rs755502149	825	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355801546 rs1222396662	826	Y>H		No	ClinGen TOPMed
rs1230803970 CA355801516	830	M>V		No	ClinGen gnomAD
CA2761660 rs751941466	832	G>A		No	ClinGen ExAC gnomAD
rs1359835566 CA355801439	841	H>Y		No	ClinGen gnomAD
rs750561001 CA2761657	844	D>E		No	ClinGen ExAC gnomAD
rs868221130 CA90594762	847	P>S		No	ClinGen Ensembl
rs1371945910 CA355801360	850	M>I		No	ClinGen TOPMed gnomAD
rs779189913 CA2761636	853	G>S		No	ClinGen ExAC gnomAD
rs753942332 CA2761634	854	T>S		No	ClinGen ExAC TOPMed gnomAD
CA90594695 rs867836665	857	A>V		No	ClinGen Ensembl
CA355801311 rs1273960220	858	R>C		No	ClinGen gnomAD
rs1271095571 CA355801310	858	R>H		No	ClinGen gnomAD
rs1291327264 CA355801301	859	M>I		No	ClinGen gnomAD
CA355801307 rs1334126556	859	M>V		No	ClinGen gnomAD
CA2761632 rs375057247	861	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2761631 rs751406520	862	D>G		No	ClinGen ExAC gnomAD
CA355801287 rs1426711828	862	D>N		No	ClinGen TOPMed
rs1577047541 CA355801260	865	T>I		No	ClinGen Ensembl
rs1327772139 CA355801264	865	T>P		No	ClinGen gnomAD
CA90594682 rs865861374	870	A>S		No	ClinGen Ensembl
rs1320851100 CA355801149	879	G>E		No	ClinGen gnomAD
rs1401859747 CA355801133	881	C>F		No	ClinGen gnomAD
CA2761616 rs757227841	882	G>C		No	ClinGen ExAC
CA355801110 rs370715345	885	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370715345 CA2761613	885	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193188678 CA355801080	889	G>D		No	ClinGen gnomAD
CA2761612 rs751336630	889	G>S		No	ClinGen ExAC gnomAD
rs1314157119 CA355801047	892	K>R		No	ClinGen TOPMed
CA2761599 rs774949629	893	R>M		No	ClinGen ExAC gnomAD
CA2761598 rs771501172	894	A>S		No	ClinGen ExAC TOPMed gnomAD
CA355801025 rs1240811182	896	G>R		No	ClinGen TOPMed
rs941648698 CA90594446	901	S>L		No	ClinGen TOPMed gnomAD
CA355800979 rs1266818425	903	L>V		No	ClinGen TOPMed
rs1214675872 CA355800961	905	A>V		No	ClinGen gnomAD
rs1577046628 CA355800919	912	T>I		No	ClinGen Ensembl
rs778683920 CA2761590	915	T>I		No	ClinGen ExAC gnomAD
rs778683920 CA90594438	915	T>S		No	ClinGen ExAC gnomAD
rs757268260 CA2761589	916	P>A		No	ClinGen ExAC gnomAD
rs757268260 CA355800897	916	P>S		No	ClinGen ExAC gnomAD
CA2761588 rs753272475	917	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2761587 rs763725440	917	S>N		No	ClinGen ExAC gnomAD
CA355800886 rs1356528722	918	I>V		No	ClinGen gnomAD
CA2761586 rs200408820	919	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773710805 CA90594429	922	P>S		No	ClinGen TOPMed
CA355800838 rs1476177952	925	I>T		No	ClinGen gnomAD
rs757135845 CA2761571	926	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2761570 rs753740880	929	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1215056783 CA355800796	930	A>S		No	ClinGen gnomAD
rs1577046185 CA355800774	933	I>K		No	ClinGen Ensembl
rs1468501406 CA355800760	936	F>L		No	ClinGen gnomAD
rs1219927942 CA355800708	942	M>I		No	ClinGen gnomAD
CA2761569 rs777587040	942	M>L		No	ClinGen ExAC
rs1441761968 CA355800622	954	T>A		No	ClinGen gnomAD
rs751861716 CA2761564	958	S>F		No	ClinGen ExAC gnomAD
CA355800574 rs1270917117	960	L>V		No	ClinGen TOPMed
rs997053687 CA90593984	961	S>G		No	ClinGen TOPMed
rs780910960 CA2761547	966	F>V		No	ClinGen ExAC TOPMed gnomAD
rs754675963 CA355800496	971	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2761546 rs754675963	971	I>V		No	ClinGen ExAC TOPMed gnomAD
CA90593965 rs898409505	974	A>S		No	ClinGen TOPMed
CA90593967 rs898409505	974	A>T		No	ClinGen TOPMed
rs751159478 CA2761545	975	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2761544 rs765967051	978	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1369358626 CA355800448	979	V>M		No	ClinGen TOPMed
rs758747592 CA2761543	982	T>S		No	ClinGen ExAC gnomAD
rs1577042704 CA355800404	983	M>I		No	ClinGen Ensembl
rs758032591 CA2761525	987	P>S		No	ClinGen ExAC gnomAD
rs868521700 CA90593109	988	A>V		No	ClinGen Ensembl
CA2761524 rs765657211	989	W>G		No	ClinGen ExAC gnomAD
CA2761523 rs765657211	989	W>R		No	ClinGen ExAC gnomAD
rs766450462 CA90593105	998	P>L		No	ClinGen Ensembl
rs754284040 CA2761521	999	S>L		No	ClinGen ExAC gnomAD
rs374176772 CA2761519	1000	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2761518 rs374176772	1000	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355800292 rs1250884327	1001	L>F		No	ClinGen gnomAD
CA355800283 rs1172401368	1002	I>M		No	ClinGen TOPMed
CA2761517 rs767757351	1002	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1316036912 CA355800281	1003	S>P		No	ClinGen TOPMed gnomAD
CA355800282 rs1316036912	1003	S>T		No	ClinGen TOPMed gnomAD
rs759738857 CA2761516	1004	G>W		No	ClinGen ExAC gnomAD
CA90593103 rs62286674	1005	A>P		No	ClinGen Ensembl
rs62286673 CA90593090	1006	L>F		No	ClinGen gnomAD
CA90593093 rs62286673	1006	L>V		No	ClinGen gnomAD
CA2761512 rs776666496	1007	L>V		No	ClinGen ExAC TOPMed gnomAD
CA355800251 rs1330155398	1008	F>L		No	ClinGen gnomAD
rs768512215 CA2761511	1009	S>P		No	ClinGen ExAC gnomAD
CA2761508 rs557846606	1010	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745443352 CA2761507	1011	L>F		No	ClinGen ExAC gnomAD
rs201518494 CA2761506	1014	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2761505 rs565800090	1015	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196868606 CA355800204	1016	I>T		No	ClinGen gnomAD
CA355800206 rs1237762754	1016	I>V		No	ClinGen gnomAD
CA355800188 rs1230750356	1018	I>T		No	ClinGen TOPMed
CA355800191 rs1469844535	1018	I>V		No	ClinGen TOPMed gnomAD
rs200907067 CA2761504	1019	G>A		No	ClinGen ExAC gnomAD
CA355800150 rs199767870	1024	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867958861 CA90593047	1024	G>D		No	ClinGen TOPMed
CA2761501 rs199767870	1024	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355800148 rs867958861	1024	G>V		No	ClinGen TOPMed
CA355800137 rs1468597850	1026	F>L		No	ClinGen TOPMed
CA355800130 rs1336026013	1027	W>G		No	ClinGen gnomAD
CA2761497 rs759667696	1029	K>Q		No	ClinGen ExAC gnomAD
CA90593036 rs1031063263	1029	K>R		No	ClinGen TOPMed gnomAD
rs751778096 CA2761496	1030	Q>P		No	ClinGen ExAC gnomAD
CA355800076 rs1188172108	1034	Y>C		No	ClinGen gnomAD
rs766733624 CA2761495	1036	V>A		No	ClinGen ExAC gnomAD
CA355800053 rs1379944218	1037	W>*		No	ClinGen gnomAD
rs201944608 CA2761493	1037	W>R		No	ClinGen ExAC gnomAD
rs768622206 CA2761492	1039	P>A		No	ClinGen ExAC gnomAD
CA2761491 rs760595775	1039	P>R		No	ClinGen ExAC gnomAD
rs201484522 CA2761490	1041	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763728658 CA2761474	1045	N>D		No	ClinGen ExAC gnomAD
rs1278836883 CA355799988	1045	N>S		No	ClinGen gnomAD
CA2761473 rs189073215	1046	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342193311 CA355799982	1046	T>K		No	ClinGen gnomAD
CA2761472 rs767520169	1047	T>A		No	ClinGen ExAC gnomAD
CA2761471 rs767520169	1047	T>S		No	ClinGen ExAC gnomAD
CA355799971 rs1189369935	1048	G>E		No	ClinGen TOPMed
CA90592384 rs976423574	1050	G>E		No	ClinGen TOPMed gnomAD
rs930578393 CA355799961	1050	G>R		No	ClinGen TOPMed gnomAD
CA90592387 rs930578393	1050	G>W		No	ClinGen TOPMed gnomAD
rs1397596486 CA355799924	1055	S>A		No	ClinGen TOPMed
CA355799922 rs1416977025	1055	S>L		No	ClinGen gnomAD
rs568732265 CA355799914	1056	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760025962 CA90592367	1057	V>I		No	ClinGen gnomAD
CA355799903 rs1421820648	1058	D>G		No	ClinGen gnomAD
CA2761468 rs770559777	1059	N>D		No	ClinGen ExAC gnomAD
rs531855588 CA2761467	1062	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772926145 CA2761466	1063	L>V		No	ClinGen ExAC gnomAD
CA355799866 rs1408515540	1064	D>N		No	ClinGen gnomAD
CA2761465 rs769997952	1065	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA355799847 rs1364781275	1066	H>R		No	ClinGen TOPMed
rs1166408330 CA355799829	1068	I>M		No	ClinGen gnomAD
CA355799816 rs1277976762	1070	N>S		No	ClinGen TOPMed
rs748572547 CA2761464	1076	V>G		No	ClinGen ExAC gnomAD
rs202188212 CA90592346	1081	S>C		No	ClinGen 1000Genomes
rs1317881156 CA355799706	1085	L>P		No	ClinGen gnomAD
CA2761461 rs747067880	1086	I>M		No	ClinGen ExAC
CA2761462 rs755587618	1086	I>V		No	ClinGen ExAC gnomAD
CA90592335 rs1034668076	1087	V>G		No	ClinGen Ensembl
rs780344708 CA2761460	1087	V>L		No	ClinGen ExAC gnomAD
CA355799687 rs1356472734	1089	I>T		No	ClinGen gnomAD
CA90592327 rs981888541	1089	I>V		No	ClinGen gnomAD
rs1414346980 CA355799599	1101	C>W		No	ClinGen gnomAD
CA2761457 rs373987252	1103	K>R		No	ClinGen ESP ExAC gnomAD
rs1442694918 CA355799169	1111	V>M		No	ClinGen gnomAD
rs780718677 CA2761441	1114	L>*		No	ClinGen ExAC gnomAD
CA355799116 rs1242455481	1115	Y>C		No	ClinGen TOPMed gnomAD
CA2761440 rs200180433	1116	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355799100 rs1270099492	1116	I>T		No	ClinGen TOPMed
rs1319039720 CA355799084	1117	F>L		No	ClinGen gnomAD
CA2761438 rs778971781	1118	I>L		No	ClinGen ExAC TOPMed gnomAD
CA355799074 rs1287011636	1118	I>M		No	ClinGen gnomAD
CA2761437 rs778971781	1118	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355799042 rs1176557788	1121	I>F		No	ClinGen TOPMed
rs1235934554 CA355799007	1123	L>W		No	ClinGen TOPMed gnomAD
rs1139263 CA90589597	1124	Y>D		No	ClinGen gnomAD
CA90589601 rs1139263	1124	Y>H		No	ClinGen gnomAD
CA90589587 rs1046826926	1129	V>A		No	ClinGen TOPMed gnomAD
CA2761435 rs752421912	1130	D>E		No	ClinGen ExAC gnomAD
rs1432508903 CA355798923	1131	Q>E		No	ClinGen TOPMed
CA2761434 rs781034765	1131	Q>H		No	ClinGen ExAC TOPMed
rs1436394617 CA355796762	1135	I>M		No	ClinGen TOPMed
rs142320589 CA2761418	1135	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2761417 rs749461330	1136	V>A		No	ClinGen ExAC gnomAD
rs1488310680 CA355796664	1139	P>S		No	ClinGen TOPMed
CA355796602 rs1449976925	1141	Q>P		No	ClinGen TOPMed
rs1560069186 CA355796527	1142	W>*		No	ClinGen Ensembl
CA355796434 rs79760253	1143	R>C		No	ClinGen gnomAD
rs779940673 CA355796432	1143	R>H		No	ClinGen ExAC gnomAD
CA2761413 rs779940673	1143	R>L		No	ClinGen ExAC gnomAD
rs79760253 CA90586620	1143	R>S		No	ClinGen gnomAD
rs758414215 CA2761412	1144	V>I		No	ClinGen ExAC gnomAD
rs369136611 CA2761411	1146	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193437638 CA355796271	1148	I>V		No	ClinGen gnomAD
rs779933381 CA90586596	1149	I>T		No	ClinGen Ensembl
CA90586594 rs959979899	1150	V>I		No	ClinGen TOPMed gnomAD
CA2761410 rs764734247	1151	L>F		No	ClinGen ExAC gnomAD
rs374961574 CA90586592	1155	F>C		No	ClinGen ESP TOPMed
rs753479284 CA2761408	1156	V>A		No	ClinGen ExAC TOPMed gnomAD
CA355796013 rs1321950164	1157	S>F		No	ClinGen TOPMed
CA2761407 rs201472338	1158	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355795958 rs1206678033	1160	V>A		No	ClinGen gnomAD
CA355795967 rs1433754064	1160	V>L		No	ClinGen TOPMed
CA90647172 rs59368082	1164	V>M		No	ClinGen Ensembl
rs763061879 CA2761377	1165	D>A		No	ClinGen ExAC gnomAD
rs1560063414 CA355813446	1165	D>H		No	ClinGen Ensembl
CA355813439 rs1233229224	1166	R>Q		No	ClinGen gnomAD
CA90647148 rs927986967	1166	R>W		No	ClinGen TOPMed gnomAD
rs1233237381 CA355813432	1167	W>R		No	ClinGen TOPMed
rs764006440 CA90647144	1169	K>E		No	ClinGen ExAC TOPMed gnomAD
rs764006440 CA2761376	1169	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA2761375 rs769995282	1169	K>R		No	ClinGen ExAC gnomAD
rs1360161618 CA355813381	1170	C>F		No	ClinGen TOPMed gnomAD
CA355813383 rs1360161618	1170	C>Y		No	ClinGen TOPMed gnomAD
rs368662949 CA2761374	1172	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771848775 CA2761372	1173	P>R		No	ClinGen ExAC gnomAD
CA2761371 rs745679841	1175	A>V		No	ClinGen ExAC gnomAD
rs778876680 CA2761370	1176	L>R		No	ClinGen ExAC TOPMed gnomAD
CA355813286 rs1183602765	1177	G>D		No	ClinGen TOPMed
CA2761368 rs748793056	1178	C>Y		No	ClinGen ExAC gnomAD
rs372880544 CA2761367	1179	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA355813235 rs1364699437	1181	K>E		No	ClinGen TOPMed gnomAD
rs755690791 CA2761365	1183	P>R		No	ClinGen ExAC gnomAD
rs752341600 CA2761364	1185	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755331857 CA2761362	1188	M>R		No	ClinGen ExAC gnomAD
CA2761363 rs200187937	1188	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751913018 CA2761361	1189	Y>C		No	ClinGen ExAC gnomAD
rs766890614 CA2761360	1190	L>V		No	ClinGen ExAC gnomAD
CA355813093 rs773710020	1191	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2761358 rs773710020	1191	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1449817529 CA355813067	1193	E>G		No	ClinGen TOPMed
CA355813030 rs1333626845	1196	V>D		No	ClinGen gnomAD
CA2761354 rs768798649	1197	D>H		No	ClinGen ExAC TOPMed gnomAD
rs745653595 CA2761353	1198	P>S		No	ClinGen ExAC gnomAD
CA90647035 rs200914446	1199	E>*		No	ClinGen Ensembl
rs1414671986 CA355812983	1200	W>R		No	ClinGen TOPMed
CA355812915 rs1466068104	1205	Q>R		No	ClinGen gnomAD
rs1422725967 CA355812865	1209	E>A		No	ClinGen gnomAD
CA2761351 rs377508920	1211	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355812818 rs1237657290	1213	L>I		No	ClinGen gnomAD
CA2761349 rs777868192	1215	K>R		No	ClinGen ExAC gnomAD
rs1229332011 CA355812779	1218	G>E		No	ClinGen TOPMed
CA2761345 rs199999752	1220	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2761346 rs780869061	1220	C>R		No	ClinGen ExAC gnomAD
CA2761342 rs758771358	1227	T>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9H7F0

5 regional properties for Q9H7F0

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	176 - 226	IPR004014
domain	Cation-transporting P-type ATPase, C-terminal	966 - 1162	IPR006068
ptm	P-type ATPase, phosphorylation site	498 - 504	IPR018303
domain	P-type ATPase, haloacid dehalogenase domain	477 - 930	IPR044492
domain	P5B-type ATPase, N-terminal	13 - 150	IPR047819

Functions

		Description
EC Number	7.6.2.16	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Recycling endosome membrane ; Multi-pass membrane protein Early endosome membrane ; Multi-pass membrane protein Late endosome membrane ; Multi-pass membrane protein	Mainly targeted to the recycling endosomes and to a lesser extent to the early and late endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
early endosome membrane	The lipid bilayer surrounding an early endosome.
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.
late endosome membrane	The lipid bilayer surrounding a late endosome.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.

7 GO annotations of molecular function

Name	Definition
ABC-type polyamine transporter activity	Catalysis of the reaction: ATP + H2O + polyamine(out) = ADP + phosphate + polyamine(in).
ABC-type putrescine transporter activity	Catalysis of the reaction: ATP + H2O + putrescine(out) -> ADP + phosphate + putrescine(in).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled cation transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in).
metal ion binding	Binding to a metal ion.
P-type transmembrane transporter activity	Primary active transporter that auto-phosphorylates (hence P) at a key conserved aspartate residue, generating a conformational change that allows transport of the substrate. Hydrolysis of the phosphorylated Asp residue, catalyzed by the actuator (A) domain, results in another state with occluded substrates. Upon dissociation of Mg2+ and inorganic phosphate (Pi), the enzyme reverts to the initial state, in which the counter-transported substrate is released into the cytosol.

3 GO annotations of biological process

Name	Definition
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
polyamine transmembrane transport	The process in which a polyamine macromolecule is transported across a membrane.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4VNC0	ATP13A5	Probable cation-transporting ATPase 13A5	Homo sapiens (Human)	PR
Q9CTG6	Atp13a2	Polyamine-transporting ATPase 13A2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDREERKTIN	QGQEDEMEIY	GYNLSRWKLA	IVSLGVICSG	GFLLLLLYWM	PEWRVKATCV
70	80	90	100	110	120
RAAIKDCEVV	LLRTTDEFKM	WFCAKIRVLS	LETYPVSSPK	SMSNKLSNGH	AVCLIENPTE
130	140	150	160	170	180
ENRHRISKYS	QTESQQIRYF	THHSVKYFWN	DTIHNFDFLK	GLDEGVSCTS	IYEKHSAGLT
190	200	210	220	230	240
KGMHAYRKLL	YGVNEIAVKV	PSVFKLLIKE	VLNPFYIFQL	FSVILWSTDE	YYYYALAIVV
250	260	270	280	290	300
MSIVSIVSSL	YSIRKQYVML	HDMVATHSTV	RVSVCRVNEE	IEEIFSTDLV	PGDVMVIPLN
310	320	330	340	350	360
GTIMPCDAVL	INGTCIVNES	MLTGESVPVT	KTNLPNPSVD	VKGIGDELYN	PETHKRHTLF
370	380	390	400	410	420
CGTTVIQTRF	YTGELVKAIV	VRTGFSTSKG	QLVRSILYPK	PTDFKLYRDA	YLFLLCLVAV
430	440	450	460	470	480
AGIGFIYTII	NSILNEVQVG	VIIIESLDII	TITVPPALPA	AMTAGIVYAQ	RRLKKIGIFC
490	500	510	520	530	540
ISPQRINICG	QLNLVCFDKT	GTLTEDGLDL	WGIQRVENAR	FLSPEENVCN	EMLVKSQFVA
550	560	570	580	590	600
CMATCHSLTK	IEGVLSGDPL	DLKMFEAIGW	ILEEATEEET	ALHNRIMPTV	VRPPKQLLPE
610	620	630	640	650	660
STPAGNQEME	LFELPATYEI	GIVRQFPFSS	ALQRMSVVAR	VLGDRKMDAY	MKGAPEAIAG
670	680	690	700	710	720
LCKPETVPVD	FQNVLEDFTK	QGFRVIALAH	RKLESKLTWH	KVQNISRDAI	ENNMDFMGLI
730	740	750	760	770	780
IMQNKLKQET	PAVLEDLHKA	NIRTVMVTGD	SMLTAVSVAR	DCGMILPQDK	VIIAEALPPK
790	800	810	820	830	840
DGKVAKINWH	YADSLTQCSH	PSAIDPEAIP	VKLVHDSLED	LQMTRYHFAM	NGKSFSVILE
850	860	870	880	890	900
HFQDLVPKLM	LHGTVFARMA	PDQKTQLIEA	LQNVDYFVGM	CGDGANDCGA	LKRAHGGISL
910	920	930	940	950	960
SELEASVASP	FTSKTPSISC	VPNLIREGRA	ALITSFCVFK	FMALYSIIQY	FSVTLLYSIL
970	980	990	1000	1010	1020
SNLGDFQFLF	IDLAIILVVV	FTMSLNPAWK	ELVAQRPPSG	LISGALLFSV	LSQIIICIGF
1030	1040	1050	1060	1070	1080
QSLGFFWVKQ	QPWYEVWHPK	SDACNTTGSG	FWNSSHVDNE	TELDEHNIQN	YENTTVFFIS
1090	1100	1110	1120	1130	1140
SFQYLIVAIA	FSKGKPFRQP	CYKNYFFVFS	VIFLYIFILF	IMLYPVASVD	QVLQIVCVPY
1150	1160	1170	1180	1190	1200
QWRVTMLIIV	LVNAFVSITV	EESVDRWGKC	CLPWALGCRK	KTPKAKYMYL	AQELLVDPEW
1210	1220
PPKPQTTTEA	KALVKENGSC	QIITIT