O75582
Gene name |
RPS6KA5 (MSK1) |
Protein name |
Ribosomal protein S6 kinase alpha-5 |
Names |
S6K-alpha-5, 90 kDa ribosomal protein S6 kinase 5, Nuclear mitogen- and stress-activated protein kinase 1, RSK-like protein kinase, RSKL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9252 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|

Descriptions
MSK1 is a member of p90 ribosomal S6 kinases (RSKs) containing two distinct kinase catalytic domains. MSK1 plays an essential role in the control of RELA transcriptional activity in response to TNF and upon glucocorticoid, associates in the cytoplasm with the glucocorticoid receptor NR3C1 and contributes to RELA inhibition and repression of inflammatory gene expression.
RSKs contain two kinase domains and C-terminal autoinhibitory α helix.
Autoinhibitory domains (AIDs)
Target domain |
429-703 (C-terminal kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
194-218 (Activation loop from InterPro)
Target domain |
49-318 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
564-587 (Activation loop from InterPro)
Target domain |
426-687 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Vermeulen L et al. (2003) "Transcriptional activation of the NF-kappaB p65 subunit by mitogen- and stress-activated protein kinase-1 (MSK1)", The EMBO journal, 22, 1313-24
- Poteet-Smith CE et al. (1999) "Generation of constitutively active p90 ribosomal S6 kinase in vivo. Implications for the mitogen-activated protein kinase-activated protein kinase family", The Journal of biological chemistry, 274, 22135-8
- Zhao Y et al. (1995) "RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation", Molecular and cellular biology, 15, 4353-63
- Martinez EC et al. (2015) "RSK3: A regulator of pathological cardiac remodeling", IUBMB life, 67, 331-7
- Anjum R et al. (2008) "The RSK family of kinases: emerging roles in cellular signalling", Nature reviews. Molecular cell biology, 9, 747-58
- Malakhova M et al. (2008) "Structural basis for activation of the autoinhibitory C-terminal kinase domain of p90 RSK2", Nature structural & molecular biology, 15, 112-3
- Li D et al. (2012) "Structural basis for the autoinhibition of the C-terminal kinase domain of human RSK1", Acta crystallographica. Section D, Biological crystallography, 68, 680-5
- Li D et al. (2013) "The prometastatic ribosomal S6 kinase 2-cAMP response element-binding protein (RSK2-CREB) signaling pathway up-regulates the actin-binding protein fascin-1 to promote tumor metastasis", The Journal of biological chemistry, 288, 32528-32538
Autoinhibited structure

Activated structure

9 structures for O75582
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1VZO | X-ray | 180 A | A | 2-348 | PDB |
3KN5 | X-ray | 240 A | A/B | 414-738 | PDB |
3KN6 | X-ray | 200 A | A/B | 414-738 | PDB |
7UP4 | X-ray | 300 A | A/B | 414-738 | PDB |
7UP5 | X-ray | 280 A | A/B | 414-738 | PDB |
7UP6 | X-ray | 260 A | PDB | ||
7UP7 | X-ray | 280 A | PDB | ||
7UP8 | X-ray | 290 A | A/B | 414-738 | PDB |
AF-O75582-F1 | Predicted | AlphaFoldDB |
464 variants for O75582
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs749741829 CA390692817 |
3 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1274552217 CA390692810 |
4 | E>A | No |
ClinGen TOPMed gnomAD |
|
rs762845963 CA265033151 |
5 | G>R | No |
ClinGen TOPMed |
|
CA7307445 rs372919173 |
8 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390692782 rs1435148220 |
8 | S>R | No |
ClinGen gnomAD |
|
CA390692788 rs372919173 |
8 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7307444 rs375911233 |
9 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
CA265033150 rs1008637753 |
9 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1483423077 CA390692777 |
10 | G>S | No |
ClinGen gnomAD |
|
rs746185525 CA7307443 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
rs746185525 CA390692771 |
11 | A>T | No |
ClinGen ExAC gnomAD |
|
rs781588549 CA7307442 |
13 | G>R | No |
ClinGen ExAC gnomAD |
|
CA7307440 rs751292340 |
15 | S>G | No |
ClinGen ExAC gnomAD |
|
CA390692741 rs202148951 |
16 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7307439 rs202148951 |
16 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765224867 CA7307436 |
18 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390692729 rs765224867 |
18 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307435 rs776541777 |
19 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA265033149 rs1029077430 |
19 | G>S | No |
ClinGen TOPMed |
|
rs776541777 CA7307434 |
19 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307432 rs761932282 |
20 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs555348355 CA7307433 |
20 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749352681 CA390692712 |
21 | G>E | No |
ClinGen ExAC gnomAD |
|
rs768768064 CA7307430 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
rs749352681 CA7307429 |
21 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1392023520 CA390692711 |
22 | G>R | No |
ClinGen gnomAD |
|
rs1369945741 CA390692702 |
23 | E>G | No |
ClinGen gnomAD |
|
rs1483029166 CA390692705 |
23 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1483029166 CA390692704 |
23 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA390692691 rs1343296599 |
24 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1202549406 CA390692694 |
24 | Q>P | No |
ClinGen TOPMed gnomAD |
|
rs1202549406 CA390692693 |
24 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs770267401 CA390692688 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
rs770267401 CA7307427 |
25 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1426419277 CA390692677 |
27 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1426419277 CA390692678 |
27 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA7307423 rs747349129 |
28 | V>I | No |
ClinGen ExAC gnomAD |
|
CA390692666 rs1334733624 |
29 | K>E | No |
ClinGen gnomAD |
|
CA390692652 rs1416021973 |
30 | H>Q | No |
ClinGen gnomAD |
|
rs1399772704 CA390692646 |
31 | E>V | No |
ClinGen gnomAD |
|
rs1217506851 CA390692636 |
33 | R>Q | No |
ClinGen TOPMed |
|
rs753889864 CA7307417 |
34 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766260545 CA390692630 |
34 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307416 rs766260545 |
34 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1190194033 CA390692628 |
35 | A>P | No |
ClinGen gnomAD |
|
rs1595445043 CA390602101 |
40 | H>N | No |
ClinGen Ensembl |
|
rs888601559 CA264690670 |
40 | H>R | No |
ClinGen TOPMed |
|
CA390602092 rs1389611261 |
41 | A>D | No |
ClinGen TOPMed |
|
CA7307362 rs781028330 |
41 | A>T | No |
ClinGen ExAC gnomAD |
|
CA390602090 rs1389611261 |
41 | A>V | No |
ClinGen TOPMed |
|
CA390602057 rs1413278594 |
46 | I>T | No |
ClinGen gnomAD |
|
CA7307360 rs544043188 |
55 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7307338 rs777592660 |
59 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1210580531 CA390601536 |
60 | Y>* | No |
ClinGen gnomAD |
|
CA7307333 rs151225102 |
67 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756086272 CA7307332 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307334 rs151225102 |
67 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1225629526 CA390601363 |
71 | G>V | No |
ClinGen gnomAD |
|
CA264669594 rs995029576 |
72 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs750519388 CA7307331 |
72 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307330 rs768094502 |
73 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1386909073 CA390601314 |
74 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA264669553 rs367694592 |
80 | M>V | No |
ClinGen ESP TOPMed |
|
CA390601113 rs1371027093 |
86 | A>V | No |
ClinGen gnomAD |
|
CA7307327 rs764624247 |
87 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1460273306 CA390601096 |
88 | I>V | No |
ClinGen gnomAD |
|
rs1199820517 CA390601079 |
89 | V>I | No |
ClinGen gnomAD |
|
rs762657053 CA7307325 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
CA390600974 rs1309143667 |
97 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1198719757 CA390600965 |
98 | T>I | No |
ClinGen gnomAD |
|
rs1483677586 CA390600956 |
100 | T>A | No |
ClinGen gnomAD |
|
CA7307324 rs774948932 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
CA390600943 rs1339128052 |
102 | R>* | No |
ClinGen gnomAD |
|
CA7307322 rs142061817 |
107 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390600899 rs1265768241 |
108 | I>M | No |
ClinGen TOPMed |
|
CA390600833 rs770831665 |
118 | H>L | No |
ClinGen ExAC gnomAD |
|
rs770831665 CA7307320 |
118 | H>R | No |
ClinGen ExAC gnomAD |
|
rs771998704 CA7307301 |
133 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs771998704 CA7307300 |
133 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA390599000 rs1252512273 |
136 | G>S | No |
ClinGen gnomAD |
|
CA390598991 rs1204376586 |
137 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs201222390 CA264649147 |
145 | Q>E | No |
ClinGen Ensembl |
|
CA7307299 rs747853891 |
148 | R>C | No |
ClinGen ExAC gnomAD |
|
CA7307298 rs778788639 |
148 | R>H | No |
ClinGen ExAC gnomAD |
|
CA390598897 rs1595298510 |
149 | F>L | No |
ClinGen Ensembl |
|
rs1481994077 CA390598883 |
150 | T>A | No |
ClinGen gnomAD |
|
CA7307297 rs7143758 |
151 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390598867 rs1240941638 |
151 | E>V | No |
ClinGen gnomAD |
|
CA7307296 rs746170983 |
152 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781411551 CA7307295 |
153 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA264649138 rs1007729748 |
154 | V>G | No |
ClinGen TOPMed gnomAD |
|
rs1284709350 CA390598804 |
155 | Q>H | No |
ClinGen gnomAD |
|
CA7307294 rs757359077 |
155 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1314684959 CA390598763 |
158 | V>I | No |
ClinGen gnomAD |
|
CA7307291 rs758967947 |
159 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1566778089 CA390598714 |
161 | I>T | No |
ClinGen Ensembl |
|
rs1003458452 CA264649115 |
163 | L>F | No |
ClinGen Ensembl |
|
CA7307288 rs759105458 |
166 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1044722331 CA264649108 |
166 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs200296811 CA264649104 |
168 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200296811 CA7307287 |
168 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1268012505 CA390598110 |
176 | R>C | No |
ClinGen gnomAD |
|
CA7307262 rs199633732 |
176 | R>H | No |
ClinGen ExAC TOPMed |
|
rs755783181 CA7307260 |
178 | I>T | No |
ClinGen ExAC gnomAD |
|
rs765972573 CA7307261 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA264647007 rs749909993 |
179 | K>N | No |
ClinGen ExAC gnomAD |
|
rs200169986 CA7307258 |
183 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7307255 rs148618662 |
187 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7307254 rs528231414 |
188 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7307252 VAR_051634 rs34699345 |
190 | H>R | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1353092180 CA390597925 |
191 | V>M | No |
ClinGen gnomAD |
|
CA390597909 rs1409034173 |
192 | V>A | No |
ClinGen gnomAD |
|
rs1409034173 CA390597908 |
192 | V>G | No |
ClinGen gnomAD |
|
CA390597782 rs1177976289 |
202 | F>L | No |
ClinGen gnomAD |
|
rs772251191 CA7307249 |
203 | V>L | No |
ClinGen ExAC gnomAD |
|
CA7307247 rs779406710 |
205 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307248 rs77756213 |
205 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1312037829 CA390597738 |
206 | E>G | No |
ClinGen TOPMed |
|
rs1201978063 CA390602575 |
207 | T>S | No |
ClinGen gnomAD |
|
rs760965172 CA7307229 |
217 | I>T | No |
ClinGen ExAC gnomAD |
|
CA7307230 rs765188423 |
217 | I>V | No |
ClinGen ExAC gnomAD |
|
CA390602473 rs772187708 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7307227 rs772187708 |
222 | P>T | No |
ClinGen ExAC gnomAD |
|
rs748214958 CA7307226 |
225 | V>I | No |
ClinGen ExAC gnomAD |
|
rs993884899 CA264646642 |
227 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA390602433 rs1450041819 |
228 | G>E | No |
ClinGen gnomAD |
|
rs144064383 CA264646638 |
229 | D>H | No |
ClinGen ESP TOPMed |
|
rs1356606981 CA390602358 |
237 | D>E | No |
ClinGen TOPMed |
|
CA390602360 rs1457216641 |
237 | D>G | No |
ClinGen gnomAD |
|
CA390602331 rs1595217467 |
240 | S>R | No |
ClinGen Ensembl |
|
CA264645801 rs1032824605 |
242 | G>D | No |
ClinGen Ensembl |
|
rs967260755 CA264645795 |
243 | V>I | No |
ClinGen gnomAD |
|
rs372452750 CA390602301 |
245 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372452750 CA7307203 |
245 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390602297 rs1455680711 |
246 | Y>C | No |
ClinGen gnomAD |
|
CA390602274 rs1431416370 |
249 | L>P | No |
ClinGen gnomAD |
|
rs1595217259 CA390602255 |
252 | A>V | No |
ClinGen Ensembl |
|
CA390602223 rs1267374524 |
257 | V>G | No |
ClinGen gnomAD |
|
rs746195386 CA264645787 |
258 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746195386 CA7307201 |
258 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307200 rs140126863 |
260 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390602182 rs1251568234 |
263 | S>F | No |
ClinGen gnomAD |
|
rs746707654 CA7307198 |
268 | S>F | No |
ClinGen ExAC gnomAD |
|
CA264645784 rs1017996699 |
269 | R>G | No |
ClinGen Ensembl |
|
CA264641767 rs371531566 |
280 | Q>R | No |
ClinGen ESP |
|
CA7307172 rs747410357 |
286 | A>T | No |
ClinGen ExAC gnomAD |
|
CA390601834 rs1281348481 |
286 | A>V | No |
ClinGen gnomAD |
|
CA7307170 rs771878009 |
287 | K>R | No |
ClinGen ExAC gnomAD |
|
CA7307169 rs747609197 |
288 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390601801 rs149616968 |
291 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs534048620 CA7307167 |
292 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7307166 rs200357482 |
292 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs996283858 CA264641739 |
294 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA390601764 rs1365990500 |
297 | D>Y | No |
ClinGen gnomAD |
|
rs138308039 CA264641738 |
298 | P>T | No |
ClinGen ESP |
|
rs150910355 CA7307162 |
307 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs150910355 CA264641734 |
307 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370238703 CA264641731 |
308 | D>H | No |
ClinGen Ensembl |
|
rs1411560797 CA390601681 |
309 | A>V | No |
ClinGen TOPMed |
|
rs758673014 CA264641728 |
310 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390601680 rs1237245826 |
310 | D>N | No |
ClinGen gnomAD |
|
rs758673014 CA7307161 |
310 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307160 rs752746147 |
311 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390601671 rs752746147 |
311 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765370847 CA264641722 |
312 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765370847 CA7307159 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360775608 CA390601659 |
313 | K>T | No |
ClinGen TOPMed |
|
rs1407799005 CA390601648 |
314 | E>D | No |
ClinGen TOPMed |
|
CA7307158 rs760077770 |
315 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA264641714 rs760077770 |
315 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776943706 CA7307157 |
316 | L>V | No |
ClinGen ExAC gnomAD |
|
rs754944278 CA7307139 |
320 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs997329245 CA264640401 |
320 | K>R | No |
ClinGen Ensembl |
|
rs766743012 CA7307137 |
322 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761309319 CA7307136 |
323 | W>* | No |
ClinGen ExAC gnomAD |
|
CA390601551 rs1483247182 |
325 | D>Y | No |
ClinGen gnomAD |
|
CA7307134 rs768059667 |
326 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307131 rs376247617 |
328 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7307130 rs762322464 |
328 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375770844 CA264640390 |
329 | K>R | No |
ClinGen gnomAD |
|
rs775115824 CA7307129 |
330 | K>N | No |
ClinGen ExAC gnomAD |
|
CA7307128 rs769592023 |
331 | V>L | No |
ClinGen ExAC TOPMed |
|
CA390601488 rs769592023 |
331 | V>M | No |
ClinGen ExAC TOPMed |
|
rs1348316639 CA390601478 |
332 | P>A | No |
ClinGen TOPMed |
|
rs773482291 CA7307127 |
333 | A>T | No |
ClinGen ExAC gnomAD |
|
rs780955166 CA7307126 |
334 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390601460 rs780955166 |
334 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307124 rs746809054 |
338 | V>G | No |
ClinGen ExAC gnomAD |
|
rs909143652 CA264640377 |
340 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs577750321 CA7307123 |
341 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1208196188 CA390601373 |
342 | E>A | No |
ClinGen TOPMed |
|
rs755247579 CA7307122 |
343 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307120 rs780222805 |
350 | E>G | No |
ClinGen ExAC gnomAD |
|
CA7307118 rs557893123 |
353 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7307119 rs557893123 |
353 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7307116 rs762231001 |
355 | M>V | No |
ClinGen ExAC gnomAD |
|
CA7307115 rs200895075 |
356 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1566717598 CA390601198 |
356 | D>V | No |
ClinGen Ensembl |
|
rs762707763 CA7307113 |
362 | A>T | No |
ClinGen ExAC gnomAD |
|
rs146532003 CA7307110 |
366 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs981586839 CA264640352 |
368 | S>F | No |
ClinGen Ensembl |
|
rs1349695832 CA390601076 |
368 | S>T | No |
ClinGen gnomAD |
|
CA7307109 rs770884768 |
369 | E>K | No |
ClinGen ExAC gnomAD |
|
rs770884768 CA7307108 |
369 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA7307086 rs776138152 |
374 | G>D | No |
ClinGen ExAC gnomAD |
|
CA390600724 rs1431385349 |
374 | G>S | No |
ClinGen gnomAD |
|
CA390600715 rs1177626577 |
375 | Y>F | No |
ClinGen gnomAD |
|
rs1236620385 CA390600693 |
378 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA390600668 rs1186275327 |
382 | I>T | No |
ClinGen gnomAD |
|
CA7307083 rs760703708 |
386 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1018108592 CA264639533 |
388 | A>V | No |
ClinGen TOPMed |
|
CA7307080 rs771959307 |
389 | A>V | No |
ClinGen ExAC gnomAD |
|
CA7307079 rs747906939 |
393 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308942225 CA390600589 |
395 | Q>E | No |
ClinGen gnomAD |
|
CA264639530 rs995096349 |
398 | M>I | No |
ClinGen Ensembl |
|
rs770164792 CA7307077 |
398 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1382996502 CA390600565 |
398 | M>V | No |
ClinGen gnomAD |
|
rs745922176 CA7307076 |
402 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1011167649 CA264639526 |
402 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1402330643 CA390600519 |
405 | V>A | No |
ClinGen gnomAD |
|
CA390600523 rs1159699562 |
405 | V>M | No |
ClinGen gnomAD |
|
rs781462520 CA7307075 |
406 | T>P | No |
ClinGen ExAC gnomAD |
|
rs757836027 CA7307074 |
407 | N>D | No |
ClinGen ExAC TOPMed |
|
rs747613814 CA7307073 |
410 | R>K | No |
ClinGen ExAC gnomAD |
|
rs778160536 CA7307072 |
412 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390600479 rs778160536 |
412 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1274383549 CA390600474 |
413 | M>V | No |
ClinGen gnomAD |
|
rs1261787695 CA390600460 |
414 | M>R | No |
ClinGen TOPMed |
|
rs758848393 CA390600421 |
418 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758848393 CA7307054 |
418 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758848393 CA390600422 |
418 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390600380 rs1338800427 |
423 | Y>* | No |
ClinGen gnomAD |
|
rs141570904 CA7307053 |
423 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141570904 CA7307052 |
423 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7307051 rs754617697 |
424 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1320680307 CA390600365 |
426 | D>Y | No |
ClinGen TOPMed gnomAD |
|
CA264639390 rs1030868486 |
428 | K>R | No |
ClinGen TOPMed |
|
rs766033940 CA7307049 |
429 | D>A | No |
ClinGen ExAC gnomAD |
|
CA390600339 rs1595161666 |
429 | D>E | No |
ClinGen Ensembl |
|
CA7307048 rs143530311 |
431 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
rs200091410 CA7307047 |
439 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7307046 rs200091410 |
439 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs369503281 CA7307045 |
441 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1406845788 CA390600253 |
443 | C>S | No |
ClinGen TOPMed gnomAD |
|
CA390600245 rs1392660268 |
444 | V>M | No |
ClinGen gnomAD |
|
CA7307042 rs762858981 |
445 | H>R | No |
ClinGen ExAC gnomAD |
|
CA7307041 rs776931899 |
447 | K>N | No |
ClinGen ExAC gnomAD |
|
rs771092000 CA7307040 |
448 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390600217 rs771092000 |
448 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307039 rs760763362 |
449 | N>S | No |
ClinGen ExAC gnomAD |
|
rs773211826 CA7307038 |
450 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773211826 CA390600200 |
450 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772598315 CA7307037 |
454 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs554880063 CA7307036 |
456 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7307034 rs201610483 |
459 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201610483 CA7307035 |
459 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390600110 rs1222606268 |
461 | M>I | No |
ClinGen TOPMed |
|
CA390600116 rs1397845269 |
461 | M>L | No |
ClinGen gnomAD |
|
rs1172474992 CA390600106 |
462 | E>G | No |
ClinGen gnomAD |
|
rs745565405 CA7307012 |
462 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1284159698 CA390600101 |
463 | A>T | No |
ClinGen TOPMed |
|
CA7307011 rs372449079 |
464 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7307010 rs191930267 |
466 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7307009 rs751150206 |
467 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7307008 rs777806922 |
469 | I>V | No |
ClinGen ExAC gnomAD |
|
CA390600044 rs1461053466 |
471 | A>V | No |
ClinGen TOPMed |
|
rs1187714869 CA390600028 |
474 | L>F | No |
ClinGen gnomAD |
|
CA390600021 rs1443623106 |
475 | C>Y | No |
ClinGen gnomAD |
|
rs1188456832 CA390600014 |
476 | E>K | No |
ClinGen TOPMed |
|
CA390600004 rs1253408285 |
477 | G>A | No |
ClinGen TOPMed gnomAD |
|
CA390600005 rs1253408285 |
477 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA264639069 rs939826341 |
479 | P>H | No |
ClinGen Ensembl |
|
rs936571241 CA264639068 |
480 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA390599986 rs1351236661 |
480 | N>S | No |
ClinGen gnomAD |
|
rs758462031 CA7307007 |
481 | I>V | No |
ClinGen ExAC gnomAD |
|
CA7307005 rs148385885 |
485 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7307006 rs148385885 |
485 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1450344063 CA390599945 |
486 | E>G | No |
ClinGen gnomAD |
|
rs1315968352 CA390599949 |
486 | E>K | No |
ClinGen gnomAD |
|
CA390599937 rs1174011689 |
487 | V>A | No |
ClinGen TOPMed |
|
rs750549414 CA7307003 |
489 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA390599919 rs1296810191 |
490 | D>H | No |
ClinGen gnomAD |
|
CA7307002 rs767783761 |
490 | D>V | No |
ClinGen ExAC gnomAD |
|
CA7307001 rs761841279 |
491 | Q>E | No |
ClinGen ExAC |
|
CA7307000 rs374856978 |
491 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1379356994 CA390599910 |
491 | Q>R | No |
ClinGen gnomAD |
|
CA390599883 rs1329043053 |
493 | H>L | No |
ClinGen gnomAD |
|
CA7306963 rs374156204 |
494 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA390599855 rs1262890443 |
498 | M>V | No |
ClinGen TOPMed |
|
CA7306961 rs771647081 |
501 | L>V | No |
ClinGen ExAC gnomAD |
|
rs747695262 CA7306959 |
507 | F>L | No |
ClinGen ExAC gnomAD |
|
rs778673783 CA7306958 |
508 | E>A | No |
ClinGen ExAC gnomAD |
|
rs754963730 CA7306957 |
509 | R>C | No |
ClinGen ExAC gnomAD |
|
rs537754207 CA7306956 |
509 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1198080263 CA390599726 |
515 | H>P | No |
ClinGen gnomAD |
|
rs1256236878 CA390599727 |
515 | H>Y | No |
ClinGen gnomAD |
|
rs1447027477 CA390599697 |
519 | T>A | No |
ClinGen TOPMed |
|
CA7306954 rs757458685 |
521 | A>G | No |
ClinGen ExAC |
|
CA7306953 rs200260836 |
522 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1447079397 CA390599608 |
532 | V>I | No |
ClinGen gnomAD |
|
CA7306948 rs760132998 |
535 | M>T | No |
ClinGen ExAC gnomAD |
|
rs765644584 CA7306949 |
535 | M>V | No |
ClinGen ExAC gnomAD |
|
CA390599551 rs1445389914 |
540 | V>M | No |
ClinGen gnomAD |
|
rs1178108548 CA390599544 |
541 | V>L | No |
ClinGen gnomAD |
|
rs1424216101 CA390599520 |
544 | D>G | No |
ClinGen gnomAD |
|
CA264634996 rs957531772 |
552 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs761566070 CA7306922 |
554 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs55911249 CA7306923 VAR_040634 |
554 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA390599428 rs1255803875 |
555 | E>* | No |
ClinGen TOPMed |
|
rs1226099402 CA390599403 |
558 | N>S | No |
ClinGen gnomAD |
|
rs773729525 CA7306921 |
560 | E>G | No |
ClinGen ExAC gnomAD |
|
CA264634989 rs978041244 |
560 | E>K | No |
ClinGen gnomAD |
|
CA390599390 rs978041244 |
560 | E>Q | No |
ClinGen gnomAD |
|
CA7306920 rs768156182 |
561 | I>T | No |
ClinGen ExAC gnomAD |
|
CA264634979 rs868072956 |
570 | R>Q | No |
ClinGen Ensembl |
|
CA264634983 rs748183093 |
570 | R>W | No |
ClinGen gnomAD |
|
rs1194938398 CA390599310 |
572 | K>T | No |
ClinGen TOPMed |
|
rs762375512 CA7306919 |
573 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7306918 rs34604933 VAR_040635 |
574 | P>L | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs745642692 CA7306916 |
576 | N>H | No |
ClinGen ExAC gnomAD |
|
CA7306915 rs781008603 |
577 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA7306913 rs748456297 |
580 | K>E | No |
ClinGen ExAC gnomAD |
|
rs779012780 CA7306912 |
585 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1266818999 CA390599212 |
587 | H>R | No |
ClinGen gnomAD |
|
CA7306911 rs755016647 |
589 | A>S | No |
ClinGen ExAC gnomAD |
|
CA390599196 rs1333558064 |
589 | A>V | No |
ClinGen gnomAD |
|
rs1220407517 CA390599193 |
590 | A>T | No |
ClinGen gnomAD |
|
rs1392360459 CA390599166 |
594 | L>* | No |
ClinGen gnomAD |
|
rs1189487598 CA390599161 |
595 | N>Y | No |
ClinGen gnomAD |
|
rs1240440502 CA390599152 |
596 | Q>E | No |
ClinGen gnomAD |
|
CA390599139 rs139792854 |
597 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7306907 rs765581206 |
598 | G>S | No |
ClinGen ExAC gnomAD |
|
rs936278757 CA390599129 |
599 | Y>* | No |
ClinGen TOPMed |
|
CA7306905 VAR_040636 rs55968863 |
599 | Y>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs767990787 CA390599132 |
599 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767990787 CA7306906 |
599 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs904683955 CA264634893 |
604 | D>A | No |
ClinGen TOPMed |
|
rs1378758119 CA390599089 |
605 | L>M | No |
ClinGen Ensembl |
|
CA390599076 rs1595137229 |
607 | S>G | No |
ClinGen Ensembl |
|
rs763687878 CA390599072 |
607 | S>I | No |
ClinGen ExAC gnomAD |
|
rs763687878 CA7306903 |
607 | S>N | No |
ClinGen ExAC gnomAD |
|
rs762401928 CA7306902 |
607 | S>R | No |
ClinGen ExAC gnomAD |
|
CA7306901 rs775033644 |
609 | G>D | No |
ClinGen ExAC gnomAD |
|
CA390599056 rs1435259524 |
610 | V>A | No |
ClinGen gnomAD |
|
CA7306899 rs759541597 |
610 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182308463 CA7306873 |
613 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1335281079 CA390598323 |
615 | M>T | No |
ClinGen gnomAD |
|
rs573196540 CA7306872 |
615 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390598296 rs1334842503 |
619 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA390598283 rs1398320270 |
621 | P>S | No |
ClinGen gnomAD |
|
CA7306871 rs781690351 |
624 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA390598243 rs1312723746 |
626 | D>E | No |
ClinGen gnomAD |
|
rs747371219 CA7306869 |
627 | R>* | No |
ClinGen ExAC gnomAD |
|
rs747371219 CA7306870 |
627 | R>G | No |
ClinGen ExAC gnomAD |
|
CA7306868 rs373786141 |
627 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758035959 CA7306867 |
630 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1362709766 CA390598219 |
631 | C>R | No |
ClinGen TOPMed gnomAD |
|
CA264625848 rs376770842 |
632 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
rs376770842 CA390598209 |
632 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs778537958 CA7306865 |
633 | S>G | No |
ClinGen ExAC gnomAD |
|
CA390598203 rs1209960135 |
633 | S>I | No |
ClinGen gnomAD |
|
rs753307259 CA7306863 |
634 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7306862 rs766315907 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1595097977 CA390598192 |
635 | V>A | No |
ClinGen Ensembl |
|
CA390598196 rs1284915992 |
635 | V>M | No |
ClinGen gnomAD |
|
rs546733309 CA7306860 |
637 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA390598156 rs1293188530 |
638 | M>V | No |
ClinGen gnomAD |
|
rs761713973 CA7306858 |
641 | I>S | No |
ClinGen ExAC gnomAD |
|
rs775814724 CA7306857 |
642 | K>R | No |
ClinGen ExAC gnomAD |
|
rs920219205 CA264625803 |
644 | G>R | No |
ClinGen Ensembl |
|
rs139155141 CA7306856 |
645 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA264625800 rs151173238 |
647 | S>F | No |
ClinGen ESP TOPMed |
|
rs759640790 CA7306855 |
647 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7306853 rs771466676 |
649 | E>D | No |
ClinGen ExAC gnomAD |
|
rs961440854 CA264625793 |
649 | E>Q | No |
ClinGen TOPMed |
|
rs747531260 CA7306852 |
652 | A>S | No |
ClinGen ExAC gnomAD |
|
CA7306850 rs772352475 |
654 | K>E | No |
ClinGen ExAC gnomAD |
|
rs753356455 CA390597832 |
659 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1290821786 CA390597820 |
660 | A>V | No |
ClinGen gnomAD |
|
CA390597808 rs1236929974 |
661 | K>I | No |
ClinGen gnomAD |
|
rs1202896948 CA390597805 |
661 | K>N | No |
ClinGen TOPMed |
|
CA7306845 rs779496203 |
662 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390597781 rs1272580665 |
663 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs767594984 CA7306842 |
664 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748949889 CA7306828 |
671 | D>G | No |
ClinGen ExAC gnomAD |
|
CA7306826 rs755512871 |
672 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7306825 rs745406792 |
674 | K>E | No |
ClinGen ExAC gnomAD |
|
rs781254517 CA7306824 |
679 | S>C | No |
ClinGen ExAC gnomAD |
|
rs201885024 CA7306822 |
684 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1394695194 CA390693676 |
688 | Q>* | No |
ClinGen gnomAD |
|
rs758229532 CA7306820 |
689 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA265012739 rs533096467 |
692 | Q>L | No |
ClinGen 1000Genomes |
|
rs564177046 CA7306816 |
696 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs767977575 CA7306815 |
697 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7306814 rs544286455 |
697 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1566673911 CA390693604 |
699 | M>K | No |
ClinGen Ensembl |
|
CA265012731 rs867506498 |
700 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA390693588 rs1298075797 |
701 | P>L | No |
ClinGen TOPMed |
|
CA7306809 rs769535940 |
708 | G>R | No |
ClinGen ExAC gnomAD |
|
CA390693544 rs1566673830 |
709 | A>T | No |
ClinGen Ensembl |
|
CA265012722 rs527985475 |
710 | A>V | No |
ClinGen Ensembl |
|
CA7306807 rs780918760 |
711 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780918760 CA7306808 |
711 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757249503 CA7306806 |
714 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1004150102 CA265012717 |
714 | C>Y | No |
ClinGen Ensembl |
|
CA7306805 rs746888024 |
717 | A>V | No |
ClinGen ExAC gnomAD |
|
CA7306804 rs777773959 |
718 | T>A | No |
ClinGen ExAC gnomAD |
|
rs867099727 CA265012714 |
718 | T>I | No |
ClinGen Ensembl |
|
rs1566672020 CA390693456 |
721 | A>T | No |
ClinGen Ensembl |
|
CA390693440 rs1321813401 |
723 | N>S | No |
ClinGen gnomAD |
|
CA7306784 rs772100058 |
724 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1231397516 CA390693417 |
726 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1231397516 CA390693418 |
726 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA7306783 rs747867978 |
728 | E>K | No |
ClinGen ExAC gnomAD |
|
rs778837620 CA7306782 |
728 | E>V | No |
ClinGen ExAC gnomAD |
|
CA265012445 rs937248322 |
734 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA390693363 rs937248322 |
734 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA390693350 rs1437406085 |
736 | D>N | No |
ClinGen gnomAD |
|
CA7306779 rs781398254 |
738 | A>T | No |
ClinGen ExAC gnomAD |
|
rs370587714 CA7306778 |
739 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1424961195 CA390693269 |
747 | K>R | No |
ClinGen gnomAD |
|
CA7306777 rs751709680 |
748 | K>M | No |
ClinGen ExAC gnomAD |
|
rs933555892 CA265012438 |
752 | S>G | No |
ClinGen Ensembl |
|
CA390693227 rs1488572636 |
753 | T>S | No |
ClinGen gnomAD |
|
rs759980356 CA7306771 |
755 | T>M | No |
ClinGen ExAC gnomAD |
|
rs149441965 CA7306769 |
756 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375975906 CA7306768 |
756 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA7306767 rs772822945 |
760 | S>N | No |
ClinGen ExAC gnomAD |
|
rs771901541 CA7306766 |
766 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA265012425 rs748271652 |
767 | S>A | No |
ClinGen Ensembl |
|
CA390693130 rs1566671565 |
768 | S>C | No |
ClinGen Ensembl |
|
CA390693128 rs1566671565 |
768 | S>F | No |
ClinGen Ensembl |
|
CA265012422 rs923582174 |
769 | H>R | No |
ClinGen Ensembl |
|
CA7306765 rs748176348 |
769 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA7306763 rs768374038 |
772 | G>D | No |
ClinGen ExAC gnomAD |
|
CA7306764 rs778730906 |
772 | G>S | No |
ClinGen ExAC gnomAD |
|
CA390693072 rs1372886372 |
777 | T>I | No |
ClinGen gnomAD |
|
rs749113650 CA7306762 |
778 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1457514878 CA390693068 |
778 | K>R | No |
ClinGen TOPMed |
|
CA7306761 rs778900661 |
779 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390693060 rs778900661 |
779 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197487303 CA390693044 |
782 | P>H | No |
ClinGen gnomAD |
|
CA7306758 rs200115430 |
782 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7306757 rs758419560 |
783 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1391275040 CA390693035 |
783 | S>R | No |
ClinGen gnomAD |
|
CA390693026 rs1250607600 |
785 | P>A | No |
ClinGen gnomAD |
|
rs755066054 CA7306756 |
786 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390693012 rs200886537 |
787 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1208435887 CA390693010 |
787 | D>E | No |
ClinGen TOPMed |
|
CA7306754 rs35358985 |
787 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7306753 rs200886537 |
787 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7306752 rs543409817 |
788 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760474693 CA7306751 |
788 | S>N | No |
ClinGen ExAC |
|
CA390693001 rs1266646054 |
789 | N>D | No |
ClinGen TOPMed |
|
CA7306750 rs772586913 |
790 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7306749 rs756443629 |
791 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1303836978 CA390692979 |
792 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA7306746 rs768603375 |
794 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1324047982 CA390692963 |
795 | F>L | No |
ClinGen gnomAD |
|
CA7306745 rs749051475 |
795 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390692950 rs1453352381 |
796 | Q>H | No |
ClinGen gnomAD |
|
CA7306744 rs147233692 |
798 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
CA7306741 rs777859214 |
802 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA390692913 rs1249693873 |
802 | A>S | No |
ClinGen gnomAD |
No associated diseases with O75582
8 regional properties for O75582
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 49 - 318 | IPR000719-1 |
domain | Protein kinase domain | 426 - 687 | IPR000719-2 |
domain | AGC-kinase, C-terminal | 319 - 387 | IPR000961 |
active_site | Serine/threonine-protein kinase, active site | 173 - 185 | IPR008271-1 |
active_site | Serine/threonine-protein kinase, active site | 540 - 552 | IPR008271-2 |
binding_site | Protein kinase, ATP binding site | 55 - 81 | IPR017441-1 |
binding_site | Protein kinase, ATP binding site | 432 - 455 | IPR017441-2 |
domain | Protein kinase, C-terminal | 339 - 377 | IPR017892 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
magnesium ion binding | Binding to a magnesium (Mg) ion. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
19 GO annotations of biological process
Name | Definition |
---|---|
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
histone H2A-S1 phosphorylation | OBSOLETE. The modification of histone H2A by the addition of an phosphate group to a serine residue at position 1 of the histone. |
histone H3-S10 phosphorylation | OBSOLETE. The modification of histone H3 by the addition of an phosphate group to a serine residue at position 10 of the histone. |
histone H3-S28 phosphorylation | OBSOLETE. The modification of histone H3 by the addition of an phosphate group to a serine residue at position 28 of the histone. |
histone phosphorylation | OBSOLETE. The modification of histones by addition of phosphate groups. |
inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
interleukin-1-mediated signaling pathway | The series of molecular signals initiated by interleukin-1 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
negative regulation of cytokine production | Any process that stops, prevents, or reduces the rate of production of a cytokine. |
negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
positive regulation of CREB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor CREB. |
positive regulation of histone acetylation | Any process that activates or increases the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
positive regulation of histone phosphorylation | OBSOLETE. Any process that activates or increases the frequency, rate or extent of the addition of one or more phosphate groups to a histone protein. |
positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
19 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P18652 | RPS6KA | Ribosomal protein S6 kinase 2 alpha | Gallus gallus (Chicken) | SS |
Q5F3L1 | RPS6KA5 | Ribosomal protein S6 kinase alpha-5 | Gallus gallus (Chicken) | SS |
Q96S38 | RPS6KC1 | Ribosomal protein S6 kinase delta-1 | Homo sapiens (Human) | PR |
Q15349 | RPS6KA2 | Ribosomal protein S6 kinase alpha-2 | Homo sapiens (Human) | SS |
Q15418 | RPS6KA1 | Ribosomal protein S6 kinase alpha-1 | Homo sapiens (Human) | EV |
Q9UK32 | RPS6KA6 | Ribosomal protein S6 kinase alpha-6 | Homo sapiens (Human) | SS |
P51812 | RPS6KA3 | Ribosomal protein S6 kinase alpha-3 | Homo sapiens (Human) | EV |
O75676 | RPS6KA4 | Ribosomal protein S6 kinase alpha-4 | Homo sapiens (Human) | SS |
Q9UBS0 | RPS6KB2 | Ribosomal protein S6 kinase beta-2 | Homo sapiens (Human) | PR |
P23443 | RPS6KB1 | Ribosomal protein S6 kinase beta-1 | Homo sapiens (Human) | EV SS |
Q9WUT3 | Rps6ka2 | Ribosomal protein S6 kinase alpha-2 | Mus musculus (Mouse) | SS |
Q9Z2B9 | Rps6ka4 | Ribosomal protein S6 kinase alpha-4 | Mus musculus (Mouse) | SS |
P18654 | Rps6ka3 | Ribosomal protein S6 kinase alpha-3 | Mus musculus (Mouse) | SS |
Q8BLK9 | Rps6kc1 | Ribosomal protein S6 kinase delta-1 | Mus musculus (Mouse) | PR |
P18653 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Mus musculus (Mouse) | SS |
Q8C050 | Rps6ka5 | Ribosomal protein S6 kinase alpha-5 | Mus musculus (Mouse) | PR |
Q63531 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Rattus norvegicus (Rat) | SS |
Q21734 | rskn-1 | Putative ribosomal protein S6 kinase alpha-1 | Caenorhabditis elegans | SS |
Q18846 | rskn-2 | Putative ribosomal protein S6 kinase alpha-2 | Caenorhabditis elegans | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEEEGGSSGG | AAGTSADGGD | GGEQLLTVKH | ELRTANLTGH | AEKVGIENFE | LLKVLGTGAY |
70 | 80 | 90 | 100 | 110 | 120 |
GKVFLVRKIS | GHDTGKLYAM | KVLKKATIVQ | KAKTTEHTRT | ERQVLEHIRQ | SPFLVTLHYA |
130 | 140 | 150 | 160 | 170 | 180 |
FQTETKLHLI | LDYINGGELF | THLSQRERFT | EHEVQIYVGE | IVLALEHLHK | LGIIYRDIKL |
190 | 200 | 210 | 220 | 230 | 240 |
ENILLDSNGH | VVLTDFGLSK | EFVADETERA | YSFCGTIEYM | APDIVRGGDS | GHDKAVDWWS |
250 | 260 | 270 | 280 | 290 | 300 |
LGVLMYELLT | GASPFTVDGE | KNSQAEISRR | ILKSEPPYPQ | EMSALAKDLI | QRLLMKDPKK |
310 | 320 | 330 | 340 | 350 | 360 |
RLGCGPRDAD | EIKEHLFFQK | INWDDLAAKK | VPAPFKPVIR | DELDVSNFAE | EFTEMDPTYS |
370 | 380 | 390 | 400 | 410 | 420 |
PAALPQSSEK | LFQGYSFVAP | SILFKRNAAV | IDPLQFHMGV | ERPGVTNVAR | SAMMKDSPFY |
430 | 440 | 450 | 460 | 470 | 480 |
QHYDLDLKDK | PLGEGSFSIC | RKCVHKKSNQ | AFAVKIISKR | MEANTQKEIT | ALKLCEGHPN |
490 | 500 | 510 | 520 | 530 | 540 |
IVKLHEVFHD | QLHTFLVMEL | LNGGELFERI | KKKKHFSETE | ASYIMRKLVS | AVSHMHDVGV |
550 | 560 | 570 | 580 | 590 | 600 |
VHRDLKPENL | LFTDENDNLE | IKIIDFGFAR | LKPPDNQPLK | TPCFTLHYAA | PELLNQNGYD |
610 | 620 | 630 | 640 | 650 | 660 |
ESCDLWSLGV | ILYTMLSGQV | PFQSHDRSLT | CTSAVEIMKK | IKKGDFSFEG | EAWKNVSQEA |
670 | 680 | 690 | 700 | 710 | 720 |
KDLIQGLLTV | DPNKRLKMSG | LRYNEWLQDG | SQLSSNPLMT | PDILGSSGAA | VHTCVKATFH |
730 | 740 | 750 | 760 | 770 | 780 |
AFNKYKREGF | CLQNVDKAPL | AKRRKMKKTS | TSTETRSSSS | ESSHSSSSHS | HGKTTPTKTL |
790 | 800 | ||||
QPSNPADSNN | PETLFQFSDS | VA |