Q96D31
PR
Gene name |
ORAI1 (CRACM1, TMEM142A) |
Protein name |
Calcium release-activated calcium channel protein 1 |
Names |
Protein orai-1, Transmembrane protein 142A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84876 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q96D31
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2MAK | NMR | - | B/D | 272-292 | PDB |
| 4EHQ | X-ray | 190 A | G | 69-88 | PDB |
| AF-Q96D31-F1 | Predicted | AlphaFoldDB |
311 variants for Q96D31
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000173542 rs797044624 RCV001852111 |
1 | M>L | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1594204338 CA386980249 RCV000797946 |
2 | H>Q | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594204339 RCV000820749 CA386980251 |
3 | P>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000890819 rs868908978 CA386980263 |
4 | E>D | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs549883296 CA244608357 RCV001059022 RCV003130139 |
5 | P>L | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1356450700 CA386980283 RCV001206720 |
8 | P>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA386980289 RCV001321337 rs868966101 |
9 | P>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001348094 rs1892784662 |
11 | R>C | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807612 RCV000994998 CA386980317 rs1290572755 |
13 | S>C | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001230575 rs1892784896 |
14 | P>A | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6837403 rs568054544 RCV000652300 |
17 | P>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001331514 rs1244560316 |
20 | G>R | Myopathy, tubular aggregate, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386980365 RCV001237483 rs1244560316 |
20 | G>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1273511135 RCV001317847 RCV002546055 CA386980427 |
25 | S>R | Inborn genetic diseases Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000652298 rs1372064351 |
29 | R>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236717 rs782013212 |
31 | R>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782013212 RCV001230381 |
33 | R>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323527 rs1465865018 CA386980519 |
33 | R>H | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000652295 RCV001336793 rs781829024 CA6837408 RCV000836176 |
34 | S>R | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001237591 rs1226204743 RCV000817881 CA386980583 CA386980581 |
38 | E>D | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000805745 rs781971569 |
38 | E>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782531427 RCV000652294 CA6837415 |
39 | P>A | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003222180 rs782650611 RCV000966419 CA6837418 |
41 | G>R | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs782427834 RCV001036772 CA386980792 |
42 | A>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000923384 rs782427834 CA386980790 |
42 | A>T | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001320973 rs782510098 |
46 | P>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892790744 RCV001220371 |
46 | P>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317147 rs1892790617 |
46 | P>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781855511 RCV000493887 CA244608430 RCV000763799 |
47 | P>L | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555322558 RCV000544520 |
48 | S>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs553962719 CA244608434 RCV001338226 |
51 | T>I | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001343262 CA244608433 rs782810452 |
51 | T>P | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002524958 CA244608492 rs201617764 RCV000512761 |
61 | S>P | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344147 CA244608529 rs782424304 |
65 | S>I | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652297 CA386980976 rs1286173837 |
71 | M>R | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853261 RCV000172858 |
88 | A>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1892795100 RCV001206361 |
89 | S>C | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA114898 VAR_026226 RCV000001346 rs118203993 |
91 | R>W | Combined immunodeficiency due to ORAI1 deficiency IMD9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555322610 RCV000509049 CA386981209 |
97 | S>C | Myopathy, tubular aggregate, 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_078083 rs786204796 CA199185 RCV000169690 |
98 | G>S | Myopathy, tubular aggregate, 2 TAM2; constitutively active Ca(+2) channel, independently of STIM proteins; no effect on localization to the cell membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA200154 rs786205890 RCV000172859 |
103 | A>E | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078084 | 107 | V>M | TAM2; constitutively active Ca(+2) channel, independently of STIM proteins; no effect on localization to the cell membrane [UniProt] | Yes | UniProt |
|
CA6837472 RCV001231283 rs529121117 |
111 | A>T | Variant assessed as Somatic; 5.28e-05 impact. Combined immunodeficiency due to ORAI1 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6837475 RCV001056347 rs782316353 |
114 | D>N | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002269333 RCV001054287 rs1893050626 |
126 | C>R | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782478364 CA6837483 RCV001296348 |
132 | A>G | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs786204797 RCV000169691 RCV003114320 CA199188 |
138 | L>F | Myopathy, tubular aggregate, 2 Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6837490 rs782566002 RCV001336794 |
148 | I>M | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA386983362 RCV001231972 CA386983364 rs1416832738 |
168 | M>I | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6837505 RCV001040774 rs559396531 |
170 | R>C | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1594212582 RCV000792445 |
182 | I>missing | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_078085 rs1555324111 CA386983559 |
184 | T>M | TAM2; mediates excessive Ca(2+) entry when gated by STIM1; no effect on localization to the cell membrane [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000172860 rs782753385 RCV002517660 CA200157 |
194 | L>P | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313530 rs782472239 CA6837529 |
211 | P>H | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_038608 rs3741596 RCV000439937 RCV000553470 CA6837533 |
218 | S>G | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6837537 RCV000842445 RCV001089313 rs75603737 |
223 | N>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377456337 CA6837544 RCV001217587 |
228 | G>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA386984202 rs1594212759 RCV000822319 |
234 | A>T | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782580422 CA6837550 RCV001300507 |
239 | S>L | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001221582 CA6837553 rs782656834 |
242 | I>M | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000128581 rs587777528 VAR_071473 CA163352 |
245 | P>L | Myopathy, tubular aggregate, 2 TAM2; increases activation of the Ca2+ release-activated Ca2+ (CRAC) channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA6837565 rs781789915 RCV001212229 |
259 | R>H | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA386984542 rs1555324156 RCV001246176 |
266 | T>S | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1311584085 RCV001065568 CA386984637 |
274 | N>H | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6837576 rs368440417 RCV001070162 |
275 | E>K | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368440417 RCV001055222 |
275 | E>Q | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs543436848 RCV001298465 CA6837578 |
277 | A>V | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1566472954 CA386984720 RCV000685546 |
282 | L>* | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1189464768 RCV001066327 CA386984825 |
292 | H>N | Combined immunodeficiency due to ORAI1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA386980265 rs1253665950 |
5 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386980271 rs1450640152 |
6 | A>S | No |
ClinGen TOPMed |
|
|
CA386980282 rs1356450700 |
8 | P>A | No |
ClinGen TOPMed |
|
|
rs1555322475 CA386980292 |
9 | P>L | No |
ClinGen gnomAD |
|
|
rs1349225419 CA386980308 |
12 | S>G | No |
ClinGen TOPMed |
|
|
CA386980315 rs1290572755 |
13 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1321846731 CA386980332 |
15 | E>* | No |
ClinGen TOPMed |
|
|
CA386980336 rs1388804322 |
15 | E>D | No |
ClinGen TOPMed |
|
|
CA386980344 rs1395306443 |
16 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386980345 rs1395306443 |
16 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386980356 rs1414126407 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386980354 rs1414126407 |
18 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386980355 rs1414126407 |
18 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386980367 rs1244560316 |
20 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1451886623 CA386980373 |
21 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386980374 rs1206335817 |
21 | G>D | No |
ClinGen TOPMed |
|
|
rs1451886623 CA386980372 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1451886623 CA386980371 |
21 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386980378 rs1555322490 |
22 | S>C | No |
ClinGen TOPMed |
|
|
CA386980379 rs1555322490 |
22 | S>G | No |
ClinGen TOPMed |
|
|
CA386980405 rs1555322493 |
24 | T>I | No |
ClinGen gnomAD |
|
|
CA386980400 rs1555322492 |
24 | T>P | No |
ClinGen gnomAD |
|
|
CA386980410 rs1344739416 |
25 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386980436 rs1235655407 |
26 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1555322494 CA386980429 |
26 | G>S | No |
ClinGen gnomAD |
|
|
CA386980442 rs1433032971 |
27 | S>C | No |
ClinGen TOPMed |
|
|
rs1390663869 CA386980446 |
27 | S>R | No |
ClinGen TOPMed |
|
|
CA386980455 rs1555322497 |
28 | R>H | No |
ClinGen gnomAD |
|
|
rs1413893402 CA386980464 |
29 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA386980487 rs1389191128 |
30 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782528899 CA6837409 |
35 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386980534 rs1555322508 |
35 | G>R | No |
ClinGen gnomAD |
|
|
rs1555322510 CA386980545 |
36 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276920059 CA386980551 |
36 | D>V | No |
ClinGen TOPMed |
|
|
CA386980564 rs1566465774 |
37 | G>E | No |
ClinGen Ensembl |
|
|
rs781905575 CA6837413 |
38 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782626197 CA6837412 |
38 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782531427 CA6837414 |
39 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555322519 CA386980600 |
40 | P>L | No |
ClinGen gnomAD |
|
|
CA6837416 rs782226648 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386980795 rs1212609439 |
42 | A>V | No |
ClinGen TOPMed |
|
|
CA244608417 rs1555322532 |
43 | P>L | No |
ClinGen TOPMed |
|
|
CA386980797 rs1594204610 |
43 | P>T | No |
ClinGen Ensembl |
|
|
rs782061638 CA386980811 |
45 | P>L | No |
ClinGen ExAC |
|
|
RCV001815348 rs375895928 RCV000596834 |
46 | P>missing | No |
ClinVar dbSNP |
|
|
rs782090818 CA244608426 |
46 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA386980818 rs782786977 |
47 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782786977 CA244608429 |
47 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244608432 rs782168399 |
49 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001731779 rs1555322554 |
51 | T>missing | No |
ClinVar dbSNP |
|
|
rs782718073 CA244608441 |
52 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781872687 CA244608442 |
52 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs572379138 CA244608443 |
53 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244608446 rs539709433 |
54 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs990333819 CA386980869 CA244608450 |
55 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA386980863 rs1555322563 |
55 | W>R | No |
ClinGen gnomAD |
|
|
CA244608458 rs782575915 |
56 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA386980878 rs1412190366 |
57 | G>S | No |
ClinGen TOPMed |
|
|
CA244608462 rs370688474 |
57 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs782229951 CA386980882 |
58 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA244608469 rs782229951 |
58 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA386980887 rs1555322568 |
58 | Q>H | No |
ClinGen gnomAD |
|
|
CA386980884 rs1180527508 |
58 | Q>R | No |
ClinGen TOPMed |
|
|
CA684498656 rs1481710690 |
60 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA244608487 rs782346907 |
60 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555322571 CA386980910 |
62 | E>* | No |
ClinGen gnomAD |
|
|
rs1594204758 CA386980921 |
63 | V>G | No |
ClinGen Ensembl |
|
|
rs1555322572 CA386980916 |
63 | V>M | No |
ClinGen gnomAD |
|
|
rs1320012911 CA386980926 |
64 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386980923 rs1555322573 |
64 | M>V | No |
ClinGen gnomAD |
|
|
CA244608511 rs782424304 |
65 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782256310 CA244608496 |
65 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA386980940 rs1555322575 |
66 | L>P | No |
ClinGen gnomAD |
|
|
rs557887137 CA244608548 |
67 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555322579 CA386980945 |
67 | N>S | No |
ClinGen gnomAD |
|
|
CA386980959 rs1555322580 |
69 | H>Y | No |
ClinGen gnomAD |
|
|
CA386980966 rs1555322582 |
70 | S>P | No |
ClinGen gnomAD |
|
|
rs1555322585 CA386980972 |
71 | M>V | No |
ClinGen gnomAD |
|
|
CA244608555 rs782125665 |
72 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1411464557 CA386980983 |
72 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782775454 CA244608560 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373530893 CA386981001 |
75 | S>C | No |
ClinGen TOPMed |
|
|
CA386981002 rs1373530893 |
75 | S>F | No |
ClinGen TOPMed |
|
|
rs1555322589 CA386981009 |
76 | W>C | No |
ClinGen gnomAD |
|
|
rs781906725 CA244608565 |
76 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs782528662 CA244608567 |
77 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386981026 rs1555322590 |
79 | L>F | No |
ClinGen gnomAD |
|
|
CA244608568 rs782710707 |
80 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386981033 rs782710707 |
80 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386981065 rs1555322599 |
85 | K>E | No |
ClinGen gnomAD |
|
|
rs782264993 CA6837422 |
85 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA386981073 rs1555322600 |
86 | L>F | No |
ClinGen gnomAD |
|
|
CA386981078 rs1555322601 |
87 | K>E | No |
ClinGen gnomAD |
|
|
rs782283117 CA6837425 |
89 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA386981187 rs1464356755 |
96 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386981199 rs1555322609 |
97 | S>P | No |
ClinGen gnomAD |
|
|
rs1555322609 CA386981197 |
97 | S>T | No |
ClinGen gnomAD |
|
|
CA386981225 rs1317283235 |
98 | G>D | No |
ClinGen TOPMed |
|
|
CA386981217 rs786204796 |
98 | G>R | No |
ClinGen gnomAD |
|
|
CA6837468 rs782224950 |
103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1341397217 CA386982844 |
104 | M>T | No |
ClinGen TOPMed |
|
|
CA386982841 rs1216488999 |
104 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA386982872 rs1594212388 |
107 | V>G | No |
ClinGen Ensembl |
|
|
CA386982878 rs1555324066 |
108 | Q>* | No |
ClinGen gnomAD |
|
|
rs782339337 CA6837469 |
109 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782654870 CA6837470 |
110 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs529121117 CA386982901 |
111 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6837476 rs781973058 |
115 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172303142 CA386982941 |
116 | P>L | No |
ClinGen TOPMed |
|
|
CA6837477 rs782088694 |
117 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386982972 rs1555324077 |
122 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6837480 rs782142903 |
125 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1475893363 CA386983013 |
128 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs368310115 CA6837486 |
137 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1566472555 CA386983111 |
143 | C>Y | No |
ClinGen Ensembl |
|
|
CA386983118 rs1555324089 |
144 | I>L | No |
ClinGen gnomAD |
|
|
CA386983123 rs1292892700 |
145 | L>V | No |
ClinGen TOPMed |
|
|
CA386983134 rs1555324091 |
147 | N>D | No |
ClinGen gnomAD |
|
|
CA6837488 rs782280709 |
147 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6837489 rs782460502 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766782967 CA386983157 |
150 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766782967 CA244616153 |
150 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782291534 CA6837494 |
154 | V>M | No |
ClinGen ExAC |
|
|
rs1465923514 CA386983220 |
158 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6837496 rs781929515 |
159 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781948568 CA6837499 |
160 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555324100 CA386983240 |
160 | V>I | No |
ClinGen gnomAD |
|
|
CA386983254 rs1162341529 |
161 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386983263 rs1594212509 |
161 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386983294 rs1594212518 |
163 | S>F | No |
ClinGen Ensembl |
|
|
rs1594212516 CA386983286 |
163 | S>P | No |
ClinGen Ensembl |
|
|
CA386983300 rs1555324101 |
164 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462694448 CA386983325 |
166 | E>K | No |
ClinGen TOPMed |
|
|
rs782538669 CA6837503 |
167 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782716897 CA6837504 |
167 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555324103 CA386983352 |
168 | M>V | No |
ClinGen Ensembl |
|
|
CA386983377 rs1555324104 |
169 | H>L | No |
ClinGen gnomAD |
|
|
CA386983373 rs1555324104 |
169 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555324106 CA386983402 |
171 | H>R | No |
ClinGen gnomAD |
|
|
rs533220170 CA6837506 |
173 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6837508 rs782263269 |
176 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs782615527 CA6837507 |
176 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA386983501 rs1272954395 |
180 | T>N | No |
ClinGen TOPMed |
|
|
CA386983498 rs1594212559 |
180 | T>P | No |
ClinGen Ensembl |
|
|
CA6837510 rs782652213 |
181 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782652213 CA386983512 |
181 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3741595 CA6837513 |
182 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782193559 CA6837511 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1266070960 CA386983523 |
182 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782383265 CA6837515 |
186 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6837517 rs782162606 |
187 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA386983611 rs1369884389 |
187 | F>S | No |
ClinGen TOPMed |
|
|
CA386983642 rs1442588212 |
189 | A>P | No |
ClinGen TOPMed |
|
|
CA386983656 rs1555324116 |
190 | E>Q | No |
ClinGen gnomAD |
|
|
CA386983756 rs1555324118 |
195 | C>S | No |
ClinGen gnomAD |
|
|
rs781831596 CA6837522 |
198 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6837523 rs371339953 |
200 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555324120 CA386983855 |
200 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782798667 CA6837524 |
203 | K>R | No |
ClinGen ExAC |
|
|
rs1555324122 CA386983931 |
205 | Q>H | No |
ClinGen gnomAD |
|
|
CA386983946 rs1555324123 |
207 | G>D | No |
ClinGen gnomAD |
|
|
CA6837527 rs549114021 |
207 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386983973 rs1555324125 |
209 | P>L | No |
ClinGen gnomAD |
|
|
CA386983975 rs1440863247 |
210 | R>G | No |
ClinGen TOPMed |
|
|
CA244616420 rs529514669 |
211 | P>S | No |
ClinGen gnomAD |
|
|
CA244616443 rs371645148 |
212 | T>S | No |
ClinGen ESP |
|
|
rs1252712174 CA386984007 |
213 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA386984028 rs1555324127 |
214 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6837530 rs782647571 |
215 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555324131 CA386984047 |
216 | P>L | No |
ClinGen gnomAD |
|
|
CA386984045 rs1555324131 |
216 | P>R | No |
ClinGen gnomAD |
|
|
CA6837532 rs782438034 |
217 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782194424 CA6837534 |
218 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6837536 rs781972261 |
220 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244616491 rs782420247 |
221 | A>V | No |
ClinGen TOPMed |
|
|
rs75603737 CA6837539 |
223 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75603737 CA6837538 |
223 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782722476 CA6837541 |
224 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386984116 rs782722476 |
224 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372746781 CA6837542 |
226 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372746781 CA386984132 |
226 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244616597 rs1028254331 |
228 | G>A | No |
ClinGen Ensembl |
|
|
CA386984162 rs1555324138 |
230 | T>S | No |
ClinGen gnomAD |
|
|
CA6837545 rs369586125 |
231 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1566472809 CA386984170 |
231 | P>S | No |
ClinGen Ensembl |
|
|
CA386984206 rs1555324140 |
234 | A>V | No |
ClinGen gnomAD |
|
|
rs1555324141 CA386984217 |
235 | A>V | No |
ClinGen gnomAD |
|
|
CA386984232 rs1298307750 |
237 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782448303 CA6837549 |
238 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1594212784 CA386984257 |
240 | T>P | No |
ClinGen Ensembl |
|
|
rs1394978626 CA386984267 |
241 | T>A | No |
ClinGen TOPMed |
|
|
rs1555324147 CA386984280 |
242 | I>T | No |
ClinGen gnomAD |
|
|
rs1555324148 CA386984285 |
243 | M>V | No |
ClinGen gnomAD |
|
|
CA6837556 rs782401288 |
246 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244616737 rs957548015 |
246 | F>Y | No |
ClinGen Ensembl |
|
|
CA6837557 rs782169524 |
247 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386984343 rs1555324151 |
248 | L>V | No |
ClinGen gnomAD |
|
|
rs1485414099 CA386984385 |
252 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6837560 rs374711919 |
254 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6837562 rs376286032 |
255 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555324153 CA386984457 |
258 | Y>C | No |
ClinGen gnomAD |
|
|
CA6837564 rs782717492 |
259 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs782689571 CA6837570 |
262 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386984527 rs1555324155 |
265 | K>E | No |
ClinGen gnomAD |
|
|
rs782794556 CA386984550 |
267 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6837573 rs782794556 |
267 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386984564 rs1555324160 |
268 | R>* | No |
ClinGen gnomAD |
|
|
rs1555324161 CA386984566 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 272 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782201078 CA6837574 |
274 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6837577 rs782293603 |
277 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386984690 rs1594212895 |
279 | F>V | No |
ClinGen Ensembl |
|
|
CA386984711 rs1426012800 |
281 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1555324166 CA386984713 |
281 | R>H | No |
ClinGen gnomAD |
|
|
rs782746490 CA6837581 |
285 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386984768 rs1555324169 |
286 | L>Q | No |
ClinGen gnomAD |
|
|
CA386984771 rs1555324169 |
286 | L>R | No |
ClinGen gnomAD |
|
|
CA386984776 rs1555324170 |
287 | D>H | No |
ClinGen gnomAD |
|
|
rs1555324173 CA386984792 |
288 | H>Q | No |
ClinGen gnomAD |
|
|
CA386984786 rs1474919531 |
288 | H>Y | No |
ClinGen TOPMed |
|
|
CA6837582 rs781960958 |
291 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555324176 CA386984830 |
292 | H>P | No |
ClinGen gnomAD |
|
|
CA6837584 rs782134309 |
292 | H>Q | No |
ClinGen ExAC |
|
|
rs1555324177 CA386984838 |
293 | P>S | No |
ClinGen gnomAD |
|
|
rs555170508 CA6837585 |
295 | T>M | Variant assessed as Somatic; 5.749e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6837589 rs781835452 |
297 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA386984871 rs375464035 |
297 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375464035 CA6837588 |
297 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA244616957 rs1018909095 |
299 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6837592 rs781854510 |
300 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782639925 CA6837591 |
300 | Y>D | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q96D31
[MIM: 612782]: Immunodeficiency 9 (IMD9)
An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. {ECO:0000269|PubMed:16147976, ECO:0000269|PubMed:16582901}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615883]: Myopathy, tubular aggregate, 2 (TAM2)
A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO:0000269|PubMed:24591628, ECO:0000269|PubMed:28058752}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. {ECO:0000269|PubMed:16147976, ECO:0000269|PubMed:16582901}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO:0000269|PubMed:24591628, ECO:0000269|PubMed:28058752}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96D31
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96D31 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| identical protein binding | Binding to an identical protein or proteins. |
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| calcium ion import | The directed movement of calcium ions into a cell or organelle. |
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| mammary gland epithelium development | The process whose specific outcome is the progression of the mammary gland epithelium over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. |
| positive regulation of adenylate cyclase activity | Any process that activates or increases the frequency, rate or extent of adenylate cyclase activity. |
| positive regulation of calcium ion transport | Any process that activates or increases 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 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. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96SN7 | ORAI2 | Protein orai-2 | Homo sapiens (Human) | PR |
| Q8BH10 | Orai2 | Protein orai-2 | Mus musculus (Mouse) | PR |
| Q8BWG9 | Orai1 | Calcium release-activated calcium channel protein 1 | Mus musculus (Mouse) | PR |
| Q5M848 | Orai1 | Calcium release-activated calcium channel protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHPEPAPPPS | RSSPELPPSG | GSTTSGSRRS | RRRSGDGEPP | GAPPPPPSAV | TYPDWIGQSY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SEVMSLNEHS | MQALSWRKLY | LSRAKLKASS | RTSALLSGFA | MVAMVEVQLD | ADHDYPPGLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IAFSACTTVL | VAVHLFALMI | STCILPNIEA | VSNVHNLNSV | KESPHERMHR | HIELAWAFST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIGTLLFLAE | VVLLCWVKFL | PLKKQPGQPR | PTSKPPASGA | AANVSTSGIT | PGQAAAIAST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TIMVPFGLIF | IVFAVHFYRS | LVSHKTDRQF | QELNELAEFA | RLQDQLDHRG | DHPLTPGSHY |
| A |