AiPD: Autoinhibited Protein Database

Q13586

Gene name	STIM1 (GOK)
Protein name	Stromal interaction molecule 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6786
EC number
Protein Class	STROMAL INTERACTION MOLECULE HOMOLOG (PTHR15136)

Descriptions

Stromal interaction molecules (STIMs) function as endoplasmic reticulum calcium (Ca2+) sensors that differentially regulate plasma membrane Ca2+ release activated Ca2+ channels in various cells. STIM1 stimulates calcium ion (Ca2+) entry through plasma membrane Orai1 channels in response to decreased Ca2+ concentrations in the endoplasmic reticulum lumen, and STIM1 and Orai1 are important for T cell activation, platelet aggregation and skeletal muscle development.
The N-terminal luminal segment of STIM1 contains EF-hand and SAM (sterile α motif) domain and the C-terminal segment contains two putative coiled-coil domains (CC1 and CC2), as well as several acidic, serine-proline-rich, and basic segments. An acidic motif within the coiled-coil region keeps STIM1 inactive via an intramolecular interaction with a basic sequence within the Orai1 activating domain (SOAR) that has been identified as key for Orai1 activation. The oligomerization of STIM1 unmasks the SOAR domain by breaking the intramolecular interaction that keeps it inactive in the quiescent STIM1 molecule.
Furthermore, it has been reported that stabilizing EF-SAM domains within full-length STIM1 inhibit Ca2+ release-activated Ca2+ (CRAC) entry. The EF-hand together with the SAM domains (i.e., EF-SAM)s in the luminal region of all STIMs are responsible for Ca2+ sensing and initiating the molecular reorganization at ER-PM junctions responsible for store-operated Ca2+ entry.

Autoinhibitory domains (AIDs)

Target domain	341-441 (SOAR domain)
Relief mechanism	Others
Assay	Mutagenesis experiment, Structural analysis

AID

63-200 (EF-SAM domain)

Target domain

341-441 (SOAR domain)

Relief mechanism

Others (Dissociation of Ca2+ from EF hands)

Assay

Mutagenesis experiment, Structural analysis

Target domain	341-441 (SOAR domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

238-343 (Acidic motif)

Target domain

341-441 (SOAR domain)

Relief mechanism

Partner binding (STIM1 oligomerization)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Zheng L et al. (2011) "Auto-inhibitory role of the EF-SAM domain of STIM proteins in store-operated calcium entry", Proceedings of the National Academy of Sciences of the United States of America, 108, 1337-42

Korzeniowski MK et al. (2010) "Activation of STIM1-Orai1 involves an intramolecular switching mechanism", Science signaling, 3, ra82

Stathopulos PB et al. (2008) "Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry", Cell, 135, 110-22

Autoinhibited structure

Activated structure

7 structures for Q13586

Entry ID	Method	Resolution	Chain	Position	Source
2K60	NMR	-	A	58-201	PDB
2MAJ	NMR	-	A/C	312-387	PDB
2MAK	NMR	-	A/C	312-387	PDB
3TEQ	X-ray	190 A	A/B/C/D	344-444	PDB
4O9B	X-ray	260 A	A/B/C/D	237-340	PDB
6YEL	NMR	-	A	234-343	PDB
AF-Q13586-F1	Predicted				AlphaFoldDB

483 variants for Q13586

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001865414 CA16609753 RCV000455399 rs1060499904	3	V>I	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5830119 RCV001198486 rs200907515 RCV001863128	36	S>L	Stormorken syndrome Combined immunodeficiency due to STIM1 deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000689185 CA5830149 rs201245746	50	R>Q	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000034368 rs397515436 VAR_069892 CA130871	72	H>Q	TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired Myopathy, tubular aggregate, 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16044284 rs1057519506 RCV000416560	74	L>P	Combined immunodeficiency due to STIM1 deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000169764 CA199255 rs748277951 VAR_075619	80	N>T	TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired Myopathy, tubular aggregate, 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000034365 VAR_069893 CA130862 rs397514675	84	D>G	TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired Myopathy, tubular aggregate, 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000034366 rs397514676 VAR_069894 CA130865	109	H>N	TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired Myopathy, tubular aggregate, 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000034367 CA130868 rs397514677 VAR_069895	109	H>R	TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired Myopathy, tubular aggregate, 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA170740 RCV000132725 RCV000169763 RCV000537798 rs527236030 VAR_074037 RCV000144069	115	I>F	Myopathy, tubular aggregate, 1 Stormorken syndrome STRMK and TAM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000004976 rs397515357	128	E>missing	Combined immunodeficiency due to STIM1 deficiency [ClinVar]	Yes	ClinVar dbSNP
RCV000690569 rs143916878 CA5830222	152	E>K	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000526622 CA5830223 rs144602692	153	T>I	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5830228 rs199893056 RCV000658582 RCV000541355	163	A>D	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001871615 RCV001280694 rs201523207 CA5830348	291	N>D	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA163350 VAR_071476 rs483352867	304	R>W	STRMK; autosomal dominant; promotes constitutive activation of the Ca(2+) release-activated Ca(2+) (CRAC) channel [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA16044283 rs1057519505 RCV000416561 VAR_071477	426	R>C	Combined immunodeficiency due to STIM1 deficiency probable disease-associated variant found in a patient with autosomal recessive hypomaturation enamel malformations, nail dysplasia and frequent throat infections [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_069896 rs397514671 CA130849 RCV000034350	429	R>C	IMD10 Combined immunodeficiency due to STIM1 deficiency [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000636928 CA379194345 rs1444907403	461	M>T	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000693508 rs1565171115	484	I>missing	Stormorken syndrome [ClinVar]	Yes	ClinVar dbSNP
CA379195301 rs1554971682 RCV000626792	512	S>T	Migraine [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5830589 RCV000626054 rs142239530 RCV000532168	530	R>C	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5830590 RCV000690054 rs746517083	530	R>H	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA379196725 RCV000687223 rs1382628661	534	A>V	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000248185 CA5830594 rs35960304 VAR_061878 RCV000546882	538	P>S	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000814725 rs1390592487 CA379196761	540	M>T	Myopathy, tubular aggregate, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA5830596 rs370846246 RCV000636929	542	R>C	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000686846 RCV000522728 CA5830608 rs747547917	558	R>W	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA379197209 RCV000804048 rs1590703419	582	A>V	Myopathy, tubular aggregate, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000688407 CA5830620 rs750326949	585	A>V	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA379197283 rs1176059435 RCV000530795	588	H>R	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA5830638 rs35637264 RCV000560244	613	S>Y	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5830641 rs145197758 COSM268094 RCV000548778	615	R>H	Stormorken syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000824146 CA5830646 rs369549218	632	D>N	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5830652 RCV000534008 RCV000248465 rs140080199	643	R>H	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379197984 RCV001281024 rs1164327463	645	P>A	Myopathy, tubular aggregate, 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs201992816 RCV000688151 CA216534273	652	A>S	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs201466902 CA5830655 RCV000636926	654	A>T	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000700042 CA5830670 rs779204802	671	R>Q	Stormorken syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs752778021 CA5830103	4	C>W		No	ClinGen ExAC gnomAD
CA5830104 rs150529970	5	V>F		No	ClinGen ESP ExAC gnomAD
rs150529970 CA5830105	5	V>I		No	ClinGen ESP ExAC gnomAD
CA5830106 rs751520286	8	A>T		No	ClinGen ExAC gnomAD
CA5830107 rs757177992	11	L>F		No	ClinGen ExAC gnomAD
rs1182720746 CA379196334	12	L>P		No	ClinGen gnomAD
CA379196337 rs1590493888	13	W>R		No	ClinGen Ensembl
CA216520765 rs1030838394	17	L>M		No	ClinGen Ensembl
CA379196381 rs1554949765	19	Q>H		No	ClinGen Ensembl
rs750103201 CA5830109	21	Q>K		No	ClinGen ExAC gnomAD
CA5830110 rs201500852	21	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA379196396 rs1395814191	22	S>G		No	ClinGen gnomAD
rs1403143326 CA379196403	23	L>I		No	ClinGen TOPMed
CA379196415 rs1364406327	24	S>R		No	ClinGen TOPMed
CA379196420 rs748791339	25	H>P		No	ClinGen ExAC gnomAD
CA5830112 rs748791339	25	H>R		No	ClinGen ExAC gnomAD
CA379196438 rs1393963653	27	H>Q		No	ClinGen gnomAD
rs1164201423 CA379196457	30	K>E		No	ClinGen TOPMed
CA379196467 rs778297119	31	A>E		No	ClinGen ExAC TOPMed gnomAD
rs368091975 CA5830113	31	A>P		No	ClinGen ESP ExAC gnomAD
rs778297119 CA5830114	31	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771348972 CA5830116	34	T>N		No	ClinGen ExAC gnomAD
CA379196482 rs1565091023	34	T>S		No	ClinGen Ensembl
CA5830121 rs201156770	37	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs774499633 CA216520781	38	A>P		No	ClinGen ExAC TOPMed gnomAD
rs774499633 COSM687385 CA5830123	38	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1187280735 CA379196521	41	E>K		No	ClinGen gnomAD
CA216520785 rs947448351	43	S>P		No	ClinGen Ensembl
rs750192887 CA5830126	44	T>S		No	ClinGen ExAC gnomAD
CA5830148 rs753590717	47	E>G		No	ClinGen ExAC gnomAD
rs1590608659 CA379484845	49	C>Y		No	ClinGen Ensembl
CA5830150 rs764752031	54	P>T		No	ClinGen ExAC gnomAD
rs879513916 CA216282956	56	C>Y		No	ClinGen Ensembl
rs1233864830 CA379484910	59	E>K		No	ClinGen TOPMed gnomAD
CA5830152 rs202160755	61	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA379484939 rs1254195478	62	K>N		No	ClinGen TOPMed
CA5830154 rs199799231	66	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1317286420 CA379484972	67	A>P		No	ClinGen TOPMed
rs201061396 CA5830156	69	R>C		No	ClinGen ExAC gnomAD
rs376734394 CA216283055	69	R>H		No	ClinGen ESP gnomAD
rs768950124 CA5830158	77	D>N		No	ClinGen ExAC TOPMed gnomAD
CA379485041 rs1431700656	77	D>V		No	ClinGen Ensembl
CA216283100 rs1029278195	80	N>D		No	ClinGen TOPMed
CA5830160 rs748277951	80	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379485071 rs1156301676	82	D>H		No	ClinGen gnomAD
CA379485070 rs1156301676	82	D>Y		No	ClinGen gnomAD
CA379485079 rs1344608162	83	V>L		No	ClinGen gnomAD
CA5830162 rs773255654	89	D>A		No	ClinGen ExAC gnomAD
CA216283124 rs954648171	90	E>D		No	ClinGen gnomAD
CA379485208 rs1440304974	99	H>D		No	ClinGen gnomAD
rs1440304974 CA379485209	99	H>Y		No	ClinGen gnomAD
rs200658405 CA5830177	100	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1334756437 CA379485261	106	S>N		No	ClinGen TOPMed gnomAD
CA379485267 rs1478850790	107	T>N		No	ClinGen TOPMed
rs397514676 CA379485279	109	H>Y		No	ClinGen gnomAD
CA379485292 rs1371282532	111	E>K		No	ClinGen TOPMed
rs201767533 CA216321890	114	L>F		No	ClinGen TOPMed gnomAD
CA5830184 rs759378488	117	V>L		No	ClinGen ExAC gnomAD
CA5830183 rs759378488	117	V>M		No	ClinGen ExAC gnomAD
CA5830185 rs775191009	127	S>P		No	ClinGen ExAC gnomAD
CA5830186 rs762526578	129	V>L		No	ClinGen ExAC gnomAD
rs1565162073 CA379485436	130	Y>H		No	ClinGen Ensembl
CA5830213 rs201274425	131	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1192022164 CA379485451	132	W>R		No	ClinGen gnomAD
rs758479123 CA216348238	133	T>A		No	ClinGen Ensembl
rs1590678408 CA379485463	133	T>I		No	ClinGen Ensembl
CA5830216 rs200351944	134	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1174379175 CA379485469	135	D>N		No	ClinGen gnomAD
CA5830217 rs200648767	136	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200648767 CA5830218	136	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590678420 CA379485477	136	E>K		No	ClinGen Ensembl
CA5830219 rs199728303	138	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1391325344 CA379485496	139	Q>*		No	ClinGen gnomAD
rs963476096 CA216348256	139	Q>R		No	ClinGen TOPMed
rs74966469 CA379485516	142	I>L		No	ClinGen gnomAD
rs74966469 CA216348271	142	I>V		No	ClinGen gnomAD
rs200824556 CA216348276	143	T>A		No	ClinGen TOPMed
CA379485531 rs1384633809	144	Y>C		No	ClinGen TOPMed
CA379485539 rs1590678454	145	V>G		No	ClinGen Ensembl
rs201671402 CA216348292	148	P>L		No	ClinGen Ensembl
CA379485561 rs1590678476	149	Q>P		No	ClinGen Ensembl
rs1590678489 CA379485591	153	T>P		No	ClinGen Ensembl
CA5830225 rs771484089	155	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771484089 CA5830226	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747832260 CA5830224	155	R>W		No	ClinGen ExAC TOPMed gnomAD
rs899854132 CA216348320	158	Q>P		No	ClinGen Ensembl
rs200734570 CA216348327	159	L>V		No	ClinGen Ensembl
rs1201201885 CA379485630	160	S>G		No	ClinGen gnomAD
CA379485639 rs1362156104	161	G>S		No	ClinGen gnomAD
rs776121110 CA379485657	164	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5830229 rs776121110	164	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1460256142 CA379485668	165	P>L		No	ClinGen gnomAD
CA5830230 rs763289208	166	R>K		No	ClinGen ExAC gnomAD
CA5830246 rs776209475	166	R>S		No	ClinGen ExAC gnomAD
CA216351277 rs200912784	172	T>I		No	ClinGen Ensembl
CA379485726 rs1322146300	173	T>N		No	ClinGen gnomAD
CA5830249 rs774729638	175	T>A		No	ClinGen ExAC gnomAD
CA379485746 rs1338973695	176	G>E		No	ClinGen gnomAD
CA5830250 rs761973338	177	T>I		No	ClinGen ExAC TOPMed gnomAD
CA379485756 rs1351131329	178	V>L		No	ClinGen TOPMed
rs1157495973 CA379485783	182	T>A		No	ClinGen TOPMed
CA5830252 rs750619379	182	T>I		No	ClinGen ExAC gnomAD
CA5830254 rs766441391	184	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368391164 CA5830253	184	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180877917 CA379485815	187	R>W		No	ClinGen TOPMed
rs372235564 CA5830255	188	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379485862 rs1371053190	194	A>S		No	ClinGen gnomAD
rs367888213 CA5830257	197	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA379485882 rs1371903072	197	T>I		No	ClinGen gnomAD
CA5830258 rs752494097	198	V>M		No	ClinGen ExAC gnomAD
rs1379785106 CA379485890	199	L>I		No	ClinGen gnomAD
rs1242032695 CA379485913	202	P>L		No	ClinGen TOPMed
CA5830262 rs770569856	202	P>S		No	ClinGen ExAC TOPMed gnomAD
CA379485922 rs1375399301	204	L>F		No	ClinGen Ensembl
rs745319940 CA216358607	207	R>H		No	ClinGen ExAC gnomAD
CA5830277 rs745319940	207	R>L		No	ClinGen ExAC gnomAD
CA5830279 rs763916693	209	N>S		No	ClinGen ExAC TOPMed gnomAD
rs199743104 CA379485985	210	H>Q		No	ClinGen ExAC gnomAD
rs201579576 CA216358615	210	H>R		No	ClinGen gnomAD
rs756925085 CA5830281	212	K>R		No	ClinGen ExAC gnomAD
rs1418384472 CA379486014	214	F>L		No	ClinGen TOPMed
CA379486052 rs1411124220	220	I>S		No	ClinGen gnomAD
CA5830286 rs186158674	221	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5830288 rs772427441	222	I>T		No	ClinGen ExAC gnomAD
CA379486071 rs1159817252	224	V>M		No	ClinGen TOPMed
CA5830290 rs747254186	225	G>C		No	ClinGen ExAC gnomAD
CA5830292 rs776685559	226	G>S		No	ClinGen ExAC TOPMed gnomAD
rs765230033 CA379486122	231	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765230033 CA5830294	231	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs565898232 CA216358685	234	N>T		No	ClinGen 1000Genomes TOPMed
CA5830296 rs770272305	235	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770272305 CA379486148	235	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5830297 rs764002968	235	R>H		No	ClinGen ExAC gnomAD
rs751364519 CA5830298	237	S>F		No	ClinGen ExAC gnomAD
rs767252215 CA5830300	240	H>R		No	ClinGen ExAC gnomAD
rs757090235 CA5830299	240	H>Y		No	ClinGen ExAC gnomAD
CA216525103 rs1057013806	241	M>T		No	ClinGen Ensembl
rs1166777308 CA379188927	243	K>M		No	ClinGen TOPMed gnomAD
CA5830301 COSM688195 rs750028815	244	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755714206 CA5830302	245	M>V		No	ClinGen ExAC gnomAD
rs778141513 CA5830307	249	E>A		No	ClinGen ExAC TOPMed gnomAD
rs778141513 CA5830306	249	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5830308 rs771175797	253	R>Q		No	ClinGen ExAC gnomAD
CA216525112 rs200631910	255	E>G		No	ClinGen gnomAD
rs201576757 CA5830309	256	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA379189358 rs1359363776 COSM428966	259	H>R	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA216525120 rs200849173	259	H>Y		No	ClinGen Ensembl
CA5830312 rs769931387	263	E>K		No	ClinGen ExAC gnomAD
CA5830334 rs199615736	266	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5830333 rs768846227	266	H>R		No	ClinGen ExAC gnomAD
rs761584988 CA5830335	267	K>E		No	ClinGen ExAC gnomAD
CA379190241 rs1365412632	272	H>Y		No	ClinGen TOPMed
rs760406748 CA5830338	273	R>C		No	ClinGen ExAC gnomAD
rs765987346 CA5830339	273	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5830341 rs759102383	276	E>D		No	ClinGen ExAC gnomAD
rs1441773650 CA379190334	276	E>V		No	ClinGen gnomAD
rs764662510 CA5830342	277	V>A		No	ClinGen ExAC
CA5830344 rs200324686	280	V>L		No	ClinGen 1000Genomes ExAC
rs1474279628 CA379190539	285	K>E		No	ClinGen TOPMed gnomAD
rs781644310 CA379190550	285	K>M		No	ClinGen ExAC TOPMed gnomAD
rs781644310 CA5830345	285	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1034949340 CA379190567	287	R>C		No	ClinGen TOPMed gnomAD
CA379190573 rs1565168009	287	R>H		No	ClinGen Ensembl
rs1034949340 CA216526494	287	R>S		No	ClinGen TOPMed gnomAD
CA216526501 rs900508637	288	D>A		No	ClinGen Ensembl
rs11558144 CA216526498	288	D>N		No	ClinGen TOPMed
rs138848040 CA5830349	291	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138848040 CA216526509	291	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755110480 CA5830351	298	Q>R		No	ClinGen ExAC gnomAD
rs748135332 CA5830353	299	R>Q		No	ClinGen ExAC gnomAD
CA216526516 rs779075210 COSM1561411	299	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200976596 CA216526522	304	R>Q		No	ClinGen Ensembl
rs1182345081 CA379190958	306	G>A		No	ClinGen TOPMed
CA5830355 rs773169744	307	T>A		No	ClinGen ExAC TOPMed gnomAD
CA216526530 rs201651708	308	E>G		No	ClinGen gnomAD
CA379190982 rs1343604264	308	E>K		No	ClinGen gnomAD
CA5830356 rs555151614	309	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA216526542 rs866666473	311	R>Q		No	ClinGen TOPMed gnomAD
rs770698758 CA5830357	311	R>W		No	ClinGen ExAC TOPMed gnomAD
CA379191109 rs1248955977	313	R>C		No	ClinGen gnomAD
rs776331076 CA5830358	313	R>H		No	ClinGen ExAC gnomAD
CA5830359 rs759132787	315	K>R		No	ClinGen ExAC TOPMed gnomAD
rs746960459 CA5830373	325	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5830374 rs746960459	325	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202060449 CA216529133	335	L>V		No	ClinGen gnomAD
rs1038392859 CA216529136	337	S>C		No	ClinGen TOPMed
CA379192350 rs1205454155	340	S>*		No	ClinGen TOPMed
rs775189639 CA5830378	341	W>R		No	ClinGen ExAC gnomAD
rs1565170451 CA379192381	342	Y>C		No	ClinGen Ensembl
rs1565170455 CA379192435	346	A>T		No	ClinGen Ensembl
CA5830379 rs762432922	347	L>F		No	ClinGen ExAC gnomAD
CA5830381 rs773600734	355	H>R		No	ClinGen ExAC gnomAD
CA379192594 rs1277445333	357	V>G		No	ClinGen gnomAD
CA216529157 rs918568638	357	V>M		No	ClinGen TOPMed
rs1590696838 CA379192606	358	E>G		No	ClinGen Ensembl
CA379192623 rs1590696846	359	V>G		No	ClinGen Ensembl
CA379192619 rs1565170474	359	V>L		No	ClinGen Ensembl
rs1211799645 CA379192636	360	Q>R		No	ClinGen gnomAD
CA379192654 rs1482744518 COSM1353759	361	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1554971121 CA918808051	362	Y>*		No	ClinGen Ensembl
CA379192695 rs1336563628	364	I>L		No	ClinGen Ensembl
rs201378028 CA379192707	364	I>M		No	ClinGen TOPMed gnomAD
CA379192855 rs1237381523	374	L>P		No	ClinGen TOPMed
CA5830385 rs755359690	375	V>L		No	ClinGen ExAC gnomAD
rs920883663 CA216529197	378	E>D		No	ClinGen TOPMed gnomAD
rs758472622 CA5830388	378	E>G		No	ClinGen ExAC gnomAD
rs201447973 CA379192916	379	G>R		No	ClinGen ExAC gnomAD
rs201447973 CA5830389	379	G>W		No	ClinGen ExAC gnomAD
rs755910491 CA5830413	380	A>T		No	ClinGen ExAC gnomAD
CA216529460 rs1014925401	381	E>D		No	ClinGen Ensembl
CA5830415 rs748912734	383	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768311695 CA5830416	385	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1207204211 CA379193604	389	T>I		No	ClinGen TOPMed gnomAD
rs992178341 CA216529472	391	F>L		No	ClinGen TOPMed
CA379193661 rs1464170461	392	G>A		No	ClinGen TOPMed gnomAD
rs771694025 CA5830419	394	F>L		No	ClinGen ExAC gnomAD
rs1565170778 CA379193717	395	H>R		No	ClinGen Ensembl
COSM926855 CA379193734 rs1430915758	396	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA216529485 rs969938570	401	S>F		No	ClinGen Ensembl
CA379193879 rs1341390621	404	D>V		No	ClinGen Ensembl
rs542166361 CA216529506	406	D>E		No	ClinGen 1000Genomes
CA216529694 rs1025014749	417	S>N		No	ClinGen TOPMed
rs774565443 CA5830443	418	E>K		No	ClinGen ExAC gnomAD
CA379194095 rs1408566143	424	R>Q		No	ClinGen gnomAD
rs200892145 CA379194094	424	R>W		No	ClinGen TOPMed gnomAD
CA379194109 rs1565170954	426	R>H		No	ClinGen Ensembl
CA5830445 rs767609050	428	H>Y		No	ClinGen ExAC gnomAD
rs199666087 CA216529732	431	Q>K		No	ClinGen TOPMed
CA379194155 rs1449851676	433	I>F		No	ClinGen TOPMed gnomAD
CA379194160 COSM3809201 rs1367717016	434	E>K	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM688192 CA379194193 rs1403228947	438	G>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA379194214 rs1472831509	441	I>T		No	ClinGen gnomAD
rs754868552 CA5830449	441	I>V		No	ClinGen ExAC gnomAD
CA216529771 rs374484530	442	V>F		No	ClinGen ESP TOPMed
CA379194233 rs1590697690	444	N>T		No	ClinGen Ensembl
rs925534511 CA216529778	445	P>L		No	ClinGen TOPMed
CA379194246 rs1411280995	446	G>D		No	ClinGen TOPMed gnomAD
rs200795250 CA379194260	448	H>P		No	ClinGen Ensembl
rs200795250 CA216529783	448	H>R		No	ClinGen Ensembl
rs114915823 CA5830451	452	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590697726 CA379194287	453	A>S		No	ClinGen Ensembl
rs1367567586 CA379194288	453	A>V		No	ClinGen gnomAD
CA216529794 rs371655991	456	I>T		No	ClinGen ESP TOPMed
COSM688191 CA379194317 rs777537168	457	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5830454 COSM688191 rs777537168	457	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1565171050 CA379194331	459	S>R		No	ClinGen Ensembl
rs1273296963 CA379194339	460	W>C		No	ClinGen TOPMed
rs1345014433 CA379194359	463	S>N		No	ClinGen TOPMed
CA5830456 rs201717730	464	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1378840995 CA379194366	464	T>I		No	ClinGen gnomAD
rs749694629 CA5830457	465	R>C		No	ClinGen ExAC gnomAD
CA5830458 rs375914426	465	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA216529823 rs200082116	468	P>S		No	ClinGen Ensembl
CA5830460 rs748403696	470	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5830461 rs772317626	471	F>Y		No	ClinGen ExAC gnomAD
CA379194426 rs1206470512	473	M>I		No	ClinGen gnomAD
CA5830462 rs773397282	473	M>V		No	ClinGen ExAC gnomAD
CA216529840 rs200776986	475	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5830463 rs201022957	475	D>N		No	ClinGen ExAC gnomAD
CA379194451 rs1447805570	477	V>G		No	ClinGen gnomAD
CA5830466 rs199963821	477	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1308773341 CA379194460	478	D>E		No	ClinGen TOPMed
CA379194473 rs1332729135	480	M>I		No	ClinGen gnomAD
CA5830469 rs762820296	480	M>T		No	ClinGen ExAC gnomAD
CA5830468 rs752580963	480	M>V		No	ClinGen ExAC gnomAD
CA5830470 rs375031982	481	D>N		No	ClinGen ESP ExAC gnomAD
rs1449184284 CA379194493	483	E>K		No	ClinGen TOPMed gnomAD
rs1296246646 CA379194543	490	M>I		No	ClinGen gnomAD
CA5830473 rs780512774	490	M>T		No	ClinGen ExAC TOPMed gnomAD
CA379194554 COSM178868 rs1406268204	492	S>P	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762929975 CA5830506	493	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762929975 CA5830505	493	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1355510063 CA379194772	494	S>N		No	ClinGen TOPMed
CA5830507 rs541753141	494	S>R		No	ClinGen 1000Genomes ExAC
rs1185027471 CA379194782	495	L>Q		No	ClinGen gnomAD
CA379194792 rs1565172113	496	Q>*		No	ClinGen Ensembl
CA5830508 rs761641457	496	Q>H		No	ClinGen ExAC gnomAD
rs964563960 CA379194820	498	S>I		No	ClinGen gnomAD
rs964563960 CA216531254	498	S>N		No	ClinGen gnomAD
CA5830511 COSM926857 rs760242778	500	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772902514 CA5830510	500	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5830513 rs753214223	501	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1425652473 CA379194870	501	Q>H		No	ClinGen TOPMed
rs753214223 CA379194862	501	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA5830514 rs149456514	502	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5830515 rs555016539 COSM1353760	502	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs555016539 CA216531276	502	R>L		No	ClinGen ExAC TOPMed gnomAD
CA379195250 rs1565172165	503	L>P		No	ClinGen Ensembl
CA5830517 RCV000416109 rs200528072	504	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5830518 rs146873551	504	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5830520 rs756277132	505	E>D		No	ClinGen ExAC gnomAD
rs1228842060 CA379195265	506	P>S		No	ClinGen gnomAD
rs200567276 CA216531307	507	Q>R		No	ClinGen TOPMed
rs1343386197 CA379195278	508	H>Y		No	ClinGen gnomAD
CA216531320 rs201419194	509	G>C		No	ClinGen Ensembl
rs771891852 CA5830526	511	G>R		No	ClinGen ExAC TOPMed gnomAD
rs565192496 CA216531344	512	S>F		No	ClinGen 1000Genomes
rs534419041 CA216533696	515	D>Y		No	ClinGen TOPMed gnomAD
CA216533700 rs989607496	516	L>F		No	ClinGen TOPMed
rs1406003724 CA379196593	517	T>P		No	ClinGen TOPMed
CA5830581 rs751432488	518	H>R		No	ClinGen ExAC gnomAD
CA379196615 rs1590703131	519	S>Y		No	ClinGen Ensembl
CA5830583 rs199914458	520	D>N		No	ClinGen ExAC TOPMed gnomAD
rs745539009 CA379196628	521	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM1703359 rs745539009 CA5830584	521	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA216533727 rs915446402	522	E>G		No	ClinGen TOPMed gnomAD
rs1353009850 CA379196644	523	S>C		No	ClinGen gnomAD
CA379196640 rs1590703165	523	S>P		No	ClinGen Ensembl
rs141215990 CA5830586	524	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379196659 rs1291051290	525	L>V		No	ClinGen gnomAD
rs146111967 CA5830587	527	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA379196681 rs1313776483	527	M>R		No	ClinGen TOPMed
CA5830588 rs200078549	528	S>N		No	ClinGen ExAC gnomAD
CA216533734 rs200078549	528	S>T		No	ClinGen ExAC gnomAD
rs75185880 CA216533740	529	D>A		No	ClinGen Ensembl
rs142239530 CA379196699	530	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216533745 rs202166909	532	R>C		No	ClinGen TOPMed gnomAD
CA5830591 rs771442242	532	R>H		No	ClinGen ExAC gnomAD
rs1161147370 CA379196720	534	A>T		No	ClinGen gnomAD
rs1565173966 CA379196737	536	K>N		No	ClinGen Ensembl
CA5830592 rs140122024	536	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169759545 CA379196742	537	P>H		No	ClinGen gnomAD
CA5830595 rs765543495	539	Q>P		No	ClinGen ExAC gnomAD
rs1390592487 CA379196760	540	M>R		No	ClinGen TOPMed gnomAD
CA379196767 rs1329876132	541	S>G		No	ClinGen gnomAD
rs1337761156 CA379196771	541	S>N		No	ClinGen TOPMed gnomAD
CA5830597 COSM428968 rs202147687	542	R>H	haematopoietic_and_lymphoid_tissue breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs370846246 CA379196774	542	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5830599 rs201273429	543	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216533826 rs1018980327	545	D>H		No	ClinGen Ensembl
CA379196802 rs1484105807	546	E>D		No	ClinGen TOPMed
rs371443357 CA5830602	546	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA216533845 rs199644267	547	A>T		No	ClinGen Ensembl
rs755851829 CA5830603	549	N>H		No	ClinGen ExAC TOPMed
CA379196823 rs1458830346	550	A>T		No	ClinGen gnomAD
rs1242032425 CA379196831	551	M>T		No	ClinGen gnomAD
rs779827395 CA5830604	552	T>I		No	ClinGen ExAC gnomAD
CA379196837 rs1590703292	552	T>P		No	ClinGen Ensembl
rs976832103 CA216533869	553	S>F		No	ClinGen TOPMed
CA5830605 rs748820994	554	N>S		No	ClinGen ExAC gnomAD
CA5830606 rs200525396	555	G>D		No	ClinGen ExAC TOPMed gnomAD
rs200525396 CA216533896	555	G>V		No	ClinGen ExAC TOPMed gnomAD
CA379196858 rs1347670591	556	S>G		No	ClinGen gnomAD
rs201543900 CA216533910	556	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5830607 rs201543900	556	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5830609 rs199503470	558	R>Q		No	ClinGen ExAC TOPMed
rs1468467874 CA379196874	559	L>M		No	ClinGen TOPMed gnomAD
rs1036967931 CA216533926	560	I>T		No	ClinGen TOPMed gnomAD
CA5830612 rs770049339	561	E>D		No	ClinGen ExAC gnomAD
rs200557274 CA5830611	561	E>K		No	ClinGen ExAC TOPMed gnomAD
rs368206268 CA216533947	563	V>G		No	ClinGen Ensembl
rs1293438304 CA379196917	563	V>I		No	ClinGen gnomAD
CA5830613 rs775795048	564	H>Y		No	ClinGen ExAC gnomAD
CA5830615 rs763113323	566	G>E		No	ClinGen ExAC gnomAD
CA379196986 rs1321818228	567	S>P		No	ClinGen TOPMed gnomAD
rs201520428 CA216533955	567	S>Y		No	ClinGen TOPMed
rs527880533 CA216533959	569	V>M		No	ClinGen Ensembl
rs374253450 CA216533961	570	E>K		No	ClinGen ESP TOPMed gnomAD
CA379197046 rs1554972161	571	K>R		No	ClinGen Ensembl
CA379197060 rs1230192111	572	L>Q		No	ClinGen TOPMed gnomAD
CA5830617 rs774457630	574	D>E		No	ClinGen ExAC gnomAD
CA5830618 rs761861717	575	S>R		No	ClinGen ExAC gnomAD
CA5830619 rs767552538	577	A>V		No	ClinGen ExAC gnomAD
rs1219884557 CA379197260	586	L>P		No	ClinGen TOPMed
CA5830622 rs201297020	588	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs753563618 CA5830623	590	L>P		No	ClinGen ExAC gnomAD
CA5830624 rs776241052	591	D>E		No	ClinGen ExAC TOPMed gnomAD
rs983861427 CA216534034	591	D>H		No	ClinGen Ensembl
CA5830626 rs201838782	594	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5830627 rs370556532	597	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA216534080 rs199874116	598	E>D		No	ClinGen Ensembl
rs1344088203 CA379197421	599	L>P		No	ClinGen gnomAD
CA216534092 rs376050145	600	S>I		No	ClinGen TOPMed gnomAD
CA216534086 rs376050145	600	S>N		No	ClinGen TOPMed gnomAD
rs202057312 CA216534103	601	P>H		No	ClinGen Ensembl
CA5830629 rs200960094	601	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5830632 rs749622475	603	A>D		No	ClinGen ExAC TOPMed gnomAD
rs749622475 CA5830633	603	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1264716220 CA379197470	604	P>L		No	ClinGen gnomAD
rs774545394 CA5830634	604	P>S		No	ClinGen ExAC gnomAD
rs139432975 CA5830635 RCV000243944	605	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771983048 CA5830636	606	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5830637 rs200324378	607	G>S		No	ClinGen ExAC gnomAD
CA379197513 rs1435248579	608	S>P		No	ClinGen gnomAD
CA379197542 rs1430104057	610	H>Y		No	ClinGen gnomAD
CA5830640 rs560566339	615	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200385231 CA216534174	616	S>C		No	ClinGen Ensembl
rs769589075 CA216534177	617	H>Q		No	ClinGen TOPMed
rs769589075 CA379197644	617	H>Q		No	ClinGen TOPMed
rs1053906651 CA216534180	619	P>R		No	ClinGen Ensembl
CA379197659 rs1197018356	619	P>T		No	ClinGen TOPMed
CA379197716 rs1590703543	623	D>A		No	ClinGen Ensembl
CA379197704 rs765041336	623	D>H		No	ClinGen ExAC TOPMed gnomAD
rs765041336 CA5830642	623	D>N		No	ClinGen ExAC TOPMed gnomAD
CA379197740 rs1303957101	625	D>H		No	ClinGen TOPMed gnomAD
CA379197787 rs1164354267	628	S>F		No	ClinGen TOPMed gnomAD
CA216534204 rs893886813	629	P>S		No	ClinGen gnomAD
CA379197798 rs1590703566	630	V>I		No	ClinGen Ensembl
CA379197821 rs1239678100	631	G>A		No	ClinGen gnomAD
RCV000578905 rs756617504 CA5830647	634	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs200632934 CA5830648	634	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA379197867 rs1363037423	635	A>T		No	ClinGen gnomAD
CA379197890 rs1175789204	636	L>P		No	ClinGen gnomAD
CA379197886 rs1175789204	636	L>R		No	ClinGen gnomAD
CA216534231 rs201852473	638	A>T		No	ClinGen gnomAD
CA216534234 rs930699942	640	R>*		No	ClinGen TOPMed
rs769001716 CA5830650	640	R>Q		No	ClinGen ExAC gnomAD
CA216534239 rs1018411314	642	T>A		No	ClinGen Ensembl
CA216534243 rs779108452	643	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5830651 rs779108452	643	R>G		No	ClinGen ExAC TOPMed gnomAD
CA216534252 rs200481624	644	I>M		No	ClinGen Ensembl
CA379197982 rs1164327463	645	P>S		No	ClinGen TOPMed gnomAD
CA379197997 rs1590703630	646	H>P		No	ClinGen Ensembl
CA5830654 rs773130037	646	H>Y		No	ClinGen ExAC gnomAD
rs1372331507 CA379198011	647	L>Q		No	ClinGen gnomAD
CA379198019 rs1447309539	648	A>T		No	ClinGen gnomAD
CA216534262 rs200666474	649	G>C		No	ClinGen Ensembl
CA379198048 rs1311329283	650	K>N		No	ClinGen gnomAD
CA216534265 rs939881872	651	K>M		No	ClinGen TOPMed
CA379198064 rs1565174316	651	K>N		No	ClinGen Ensembl
rs201992816 CA216534269	652	A>T		No	ClinGen TOPMed gnomAD
rs1590703662 CA379198090	654	A>V		No	ClinGen Ensembl
CA216534282 rs201231955	657	D>A		No	ClinGen Ensembl
CA5830657 rs142357642	657	D>N		No	ClinGen ESP ExAC gnomAD
CA5830658 rs776698533	659	G>S		No	ClinGen ExAC gnomAD
CA5830660 rs765059333	661	I>T		No	ClinGen ExAC TOPMed gnomAD
rs759472644 CA5830659	661	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763770274 CA5830663	663	E>K		No	ClinGen ExAC gnomAD
CA379198221 rs1590703688	664	E>G		No	ClinGen Ensembl
CA5830664 rs751078011	665	T>A		No	ClinGen ExAC gnomAD
rs766934652 CA5830666 COSM129469	667	S>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA379198318 rs1355379737	670	G>D		No	ClinGen TOPMed gnomAD
CA379198330 RCV000788310 rs779204802	671	R>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs779204802 CA5830669	671	R>P		No	ClinGen ExAC gnomAD
CA5830668 rs755346239	671	R>W		No	ClinGen ExAC TOPMed gnomAD
CA216534318 rs1003906655	672	K>E		No	ClinGen TOPMed
rs1200217912 CA379198342	672	K>R		No	ClinGen TOPMed
CA5830671 rs758590974	673	K>N		No	ClinGen ExAC gnomAD
CA379198378 rs1451829112	674	F>L		No	ClinGen gnomAD
rs1346205421 CA379198428	677	K>N		No	ClinGen TOPMed
CA5830673 rs747118337	678	I>F		No	ClinGen ExAC gnomAD
rs1590703737 CA379198482	681	K>E		No	ClinGen Ensembl
rs1486705680 CA379198487	681	K>T		No	ClinGen gnomAD
rs202047054 CA5830675	684	K>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q13586

No regional properties for Q13586

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q13586

Functions

		Description
EC Number
Subcellular Localization	Cell membrane; Single-pass type I membrane protein Endoplasmic reticulum membrane; Single-pass type I membrane protein Cytoplasm, cytoskeleton Sarcoplasmic reticulum	Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane (PubMed:16005298, PubMed:16208375, PubMed:18854159, PubMed:19182790, PubMed:19249086) Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184) Colocalizes with ORAI1 at the cell membrane (PubMed:27185316) Colocalizes preferentially with CASQ1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316)
PANTHER Family	PTHR15136	STROMAL INTERACTION MOLECULE HOMOLOG
PANTHER Subfamily	PTHR15136:SF9	STROMAL INTERACTION MOLECULE 1
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cortical endoplasmic reticulum	A cortical network of highly dynamic tubules that are juxtaposed to the plasma membrane and undergo ring closure and tubule-branching movements.
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 endoplasmic reticulum membrane	The component of the endoplasmic reticulum 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.
integral component of plasma membrane	The component of the plasma 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.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
plasma membrane raft	A membrane raft that is part of the plasma membrane.
sarcoplasmic reticulum membrane	The lipid bilayer surrounding the sarcoplasmic reticulum.

5 GO annotations of molecular function

Name	Definition
calcium channel regulator activity	Modulates the activity of a calcium channel.
calcium ion binding	Binding to a calcium ion (Ca2+).
identical protein binding	Binding to an identical protein or proteins.
microtubule plus-end binding	Binding to the plus end of a microtubule.
protease binding	Binding to a protease or a peptidase.

9 GO annotations of biological process

Name	Definition
activation of store-operated calcium channel activity	A process that initiates the activity of an inactive store-operated calcium channel.
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
detection of calcium ion	The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal.
enamel mineralization	The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel.
positive regulation of adenylate cyclase activity	Any process that activates or increases the frequency, rate or extent of adenylate cyclase activity.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
regulation of calcium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of store-operated calcium entry	Any process that modulates the frequency, rate or extent of store-operated calcium entry.
store-operated calcium entry	A calcium ion entry mechanism in the plasma membrane activated by the depletion of calcium ion from the internal calcium ion store in the endoplasmic reticulum.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58CP9	STIM1	Stromal interaction molecule 1	Bos taurus (Bovine)	SS
P83094	Stim	Stromal interaction molecule homolog	Drosophila melanogaster (Fruit fly)	SS
Q9P246	STIM2	Stromal interaction molecule 2	Homo sapiens (Human)	EV
P83093	Stim2	Stromal interaction molecule 2	Mus musculus (Mouse)	SS
P70302	Stim1	Stromal interaction molecule 1	Mus musculus (Mouse)	SS
P84903	Stim1	Stromal interaction molecule 1	Rattus norvegicus (Rat)	SS
G5EF60	stim-1	Stromal interaction molecule 1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MDVCVRLALW	LLWGLLLHQG	QSLSHSHSEK	ATGTSSGANS	EESTAAEFCR	IDKPLCHSED
70	80	90	100	110	120
EKLSFEAVRN	IHKLMDDDAN	GDVDVEESDE	FLREDLNYHD	PTVKHSTFHG	EDKLISVEDL
130	140	150	160	170	180
WKAWKSSEVY	NWTVDEVVQW	LITYVELPQY	EETFRKLQLS	GHAMPRLAVT	NTTMTGTVLK
190	200	210	220	230	240
MTDRSHRQKL	QLKALDTVLF	GPPLLTRHNH	LKDFMLVVSI	VIGVGGCWFA	YIQNRYSKEH
250	260	270	280	290	300
MKKMMKDLEG	LHRAEQSLHD	LQERLHKAQE	EHRTVEVEKV	HLEKKLRDEI	NLAKQEAQRL
310	320	330	340	350	360
KELREGTENE	RSRQKYAEEE	LEQVREALRK	AEKELESHSS	WYAPEALQKW	LQLTHEVEVQ
370	380	390	400	410	420
YYNIKKQNAE	KQLLVAKEGA	EKIKKKRNTL	FGTFHVAHSS	SLDDVDHKIL	TAKQALSEVT
430	440	450	460	470	480
AALRERLHRW	QQIEILCGFQ	IVNNPGIHSL	VAALNIDPSW	MGSTRPNPAH	FIMTDDVDDM
490	500	510	520	530	540
DEEIVSPLSM	QSPSLQSSVR	QRLTEPQHGL	GSQRDLTHSD	SESSLHMSDR	QRVAPKPPQM
550	560	570	580	590	600
SRAADEALNA	MTSNGSHRLI	EGVHPGSLVE	KLPDSPALAK	KALLALNHGL	DKAHSLMELS
610	620	630	640	650	660
PSAPPGGSPH	LDSSRSHSPS	SPDPDTPSPV	GDSRALQASR	NTRIPHLAGK	KAVAEEDNGS
670	680
IGEETDSSPG	RKKFPLKIFK	KPLKK