Q9H1R3
EV
Gene name |
MYLK2 |
Protein name |
Myosin light chain kinase 2, skeletal/cardiac muscle |
Names |
MLCK2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:85366 |
EC number |
2.7.11.18: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE (PTHR24347) |
Descriptions
Myosin light chain kinases (MLCK) are members of the family of Ca2+-calmodulin-dependent protein kinases. This enzyme contains an autoinhibitory pseudosubstrate sequence that blocks the substrate-binding site of the kinase. The autoinhibitory sequence makes an extensive network of contacts on the surface of the larger C-domain of the catalytic core extending towards the catalytic cleft with the CaM-binding sequence to block the regulatory light chain of sarcomeric myosin, but not ATP binding in the catalytic core N-domain.
Autoinhibitory domains (AIDs)
Target domain |
285-540 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay |
Accessory elements
425-447 (Activation loop from InterPro)
Target domain |
285-540 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
3 structures for Q9H1R3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LV6 | Other | - | B | 566-591 | PDB |
| 3KF9 | X-ray | 260 A | B/D | 566-587 | PDB |
| AF-Q9H1R3-F1 | Predicted | AlphaFoldDB |
500 variants for Q9H1R3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000475478 rs1060500984 CA16616463 |
19 | K>R | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776262276 RCV000650230 CA9802834 |
23 | G>D | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687193 CA891843762 rs1568626448 |
33 | G>R | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541498 rs200204126 CA9802851 |
53 | D>N | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9802854 rs751084569 RCV000769535 |
56 | A>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA138522 rs138130914 RCV000770567 RCV000172570 RCV000039784 |
58 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000493997 rs141105787 RCV000529977 CA9802860 |
64 | G>A | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751701199 RCV000475384 |
82 | R>missing | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000004465 rs121908107 CA116734 VAR_014197 RCV000539484 |
87 | A>V | CMH Hypertrophic cardiomyopathy 1 Cardiomyopathy, hypertrophic, midventricular, digenic [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000770569 rs115398036 RCV000039785 CA138525 RCV000229635 |
89 | G>D | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000183552 RCV001704882 RCV000467946 rs201134349 CA335247 |
94 | P>L | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201134349 RCV000201511 CA277683 |
94 | P>R | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121908108 RCV000154782 RCV000004466 RCV000467194 VAR_014198 CA116736 |
95 | A>E | CMH Hypertrophic cardiomyopathy 1 Cardiomyopathy, hypertrophic, midventricular, digenic [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766074380 COSM3673095 RCV000463181 CA9802888 |
98 | P>L | prostate Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA335256 RCV000695126 rs750548324 |
111 | P>S | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770571 rs748134754 CA9802900 |
122 | D>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774114072 CA9802903 RCV000650229 |
125 | K>E | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000532530 CA408525504 rs1555789906 |
131 | K>E | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474150 rs761688232 CA9802911 |
133 | A>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001855989 rs768092962 CA313849715 RCV000770572 |
134 | E>D | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750838459 CA10583871 RCV000232628 |
135 | G>S | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_040862 CA138534 rs34396614 RCV000205159 RCV000030331 RCV000039788 |
144 | P>A | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA181371 RCV000473488 RCV000154781 rs145656924 |
170 | E>K | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202084078 RCV000151378 CA177195 RCV000770573 |
175 | T>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs727504591 RCV001850133 CA183436 RCV000155764 RCV001753545 |
186 | T>M | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs193922712 CA325772 RCV000030332 |
199 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500985 RCV000465390 CA16616467 |
228 | I>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA177201 COSM1719587 rs142620954 RCV000151380 RCV000227597 |
264 | P>L | NS Hypertrophic cardiomyopathy 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372639122 RCV001035718 |
268 | P>L | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698083 CA313850566 rs376297935 |
271 | M>I | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs41293104 RCV000183560 RCV000543290 RCV000770576 RCV000172061 CA237418 |
278 | N>K | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA345847 RCV002055859 RCV000143931 rs587782968 |
301 | T>N | Fabry disease Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776210812 CA9803083 RCV000542281 |
341 | N>S | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9803118 rs755753841 RCV000852539 |
365 | G>R | Ventricular tachycardia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9803121 rs371807668 RCV000547930 |
369 | E>K | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs727505336 RCV000156886 RCV000457587 CA185774 |
371 | I>T | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397517472 RCV000039780 RCV000766824 CA138514 RCV000466741 |
375 | D>N | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770579 CA408527289 rs1568631895 |
395 | L>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1490196764 CA408527303 RCV000497308 |
397 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs779637525 CA335260 RCV000459516 RCV000183563 |
402 | V>F | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9803151 RCV000526748 rs144129296 |
418 | T>I | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10583872 rs878855173 RCV000230232 |
422 | V>A | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA408527708 rs1555790622 RCV000650231 |
454 | V>L | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2062304337 RCV001196271 |
468 | M>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691166 rs1568634635 CA408527821 |
469 | G>R | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747657397 RCV001171024 CA9803256 |
522 | V>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703784 rs368444888 CA9803281 RCV000770580 |
542 | N>K | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765059037 RCV000469638 CA335253 RCV000183556 |
553 | R>C | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770581 RCV000151385 rs727503306 CA177212 RCV001432325 |
565 | M>T | Cardiomyopathy Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000461928 CA9803296 rs772716379 |
568 | R>C | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1288571285 RCV000694072 CA408528544 |
576 | V>I | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766199082 CA9803327 COSM184897 RCV000768521 RCV000214993 |
581 | R>C | large_intestine Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001857947 RCV000521149 rs201168172 CA9803331 |
589 | G>E | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000472668 CA9803336 rs146497334 |
593 | A>V | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9802817 rs373406874 |
2 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408524715 rs117502839 |
2 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000039789 CA138537 rs117502839 RCV000172569 |
2 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA313849078 rs373406874 |
2 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1302436028 CA408524727 |
4 | E>G | No |
ClinGen gnomAD |
|
|
CA177177 RCV000151372 rs727503302 |
6 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA408524744 rs1269703286 |
7 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1316397890 CA408524772 |
11 | G>E | No |
ClinGen gnomAD |
|
|
CA408524769 rs1279684586 |
11 | G>R | No |
ClinGen gnomAD |
|
|
rs1206911264 CA408524801 |
15 | P>L | No |
ClinGen gnomAD |
|
|
CA408524807 rs1465763203 |
16 | S>* | No |
ClinGen gnomAD |
|
|
CA408524804 rs1270535441 |
16 | S>T | No |
ClinGen gnomAD |
|
|
rs192056427 CA9802820 |
17 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9802819 RCV000601874 rs192056427 |
17 | T>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9802821 rs142318926 |
18 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773491671 CA9802831 |
19 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1666713 rs1162572034 CA408524838 |
20 | A>T | eye [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9802833 rs562971411 |
21 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000498509 CA408524847 rs562971411 |
21 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs980958977 CA313849427 |
21 | P>S | No |
ClinGen TOPMed |
|
|
rs1157509610 CA408524858 |
23 | G>S | No |
ClinGen gnomAD |
|
|
CA408524861 rs1353758643 |
24 | P>T | No |
ClinGen gnomAD |
|
|
rs1183127391 CA408524870 |
25 | T>I | No |
ClinGen TOPMed |
|
|
rs374620801 CA9802835 |
26 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9802836 rs765105352 |
26 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868012092 CA313849440 |
27 | E>A | No |
ClinGen Ensembl |
|
|
rs1272709972 CA408524895 |
29 | P>L | No |
ClinGen gnomAD |
|
|
rs752618730 CA9802837 |
29 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9802838 rs757983286 |
32 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs751317546 CA9802840 |
33 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313849464 rs551492045 |
35 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1216979598 CA408524926 |
35 | D>H | No |
ClinGen TOPMed |
|
|
rs1163812443 CA408524936 |
36 | P>L | No |
ClinGen gnomAD |
|
|
rs755311375 CA9802842 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779291493 CA9802843 |
37 | G>D | No |
ClinGen ExAC |
|
|
CA9802844 rs748682977 |
38 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000172055 rs786205283 CA237400 |
39 | P>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1442623234 CA408524953 |
40 | D>H | No |
ClinGen TOPMed |
|
|
CA408524966 rs1322310982 |
42 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9802846 rs150342605 |
42 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408524986 rs1332296370 |
44 | A>G | No |
ClinGen gnomAD |
|
|
rs768640764 RCV000172056 CA237403 |
45 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9802848 rs776859238 |
49 | T>I | No |
ClinGen ExAC |
|
|
rs769568693 CA408525020 |
50 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9802850 rs769568693 |
50 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408525029 rs1412252474 |
52 | K>E | No |
ClinGen TOPMed |
|
|
CA9802852 rs762972654 |
54 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs751084569 CA9802855 |
56 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751084569 CA9802856 |
56 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377211647 CA313849507 |
57 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408525080 rs1247362844 |
60 | E>G | No |
ClinGen gnomAD |
|
|
rs755363421 CA9802857 |
62 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9802858 rs779321042 |
63 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs779321042 CA9802859 |
63 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778209138 CA9802861 |
65 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000172057 rs747109352 CA237406 |
65 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA313849527 rs747109352 |
65 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408525132 rs1404432306 |
69 | P>H | No |
ClinGen gnomAD |
|
|
rs886056576 CA10649493 |
69 | P>S | No |
ClinGen Ensembl |
|
|
COSM35784 CA408525152 rs1415168123 |
72 | S>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9802863 rs770944313 |
74 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770944313 CA9802862 |
74 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1216281 rs1600407058 CA408525171 |
75 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs746102821 CA9802864 |
75 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775335331 CA9802865 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199791180 RCV000172058 COSM1410970 CA237409 |
76 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1445791173 CA408525178 |
77 | K>E | No |
ClinGen TOPMed |
|
|
CA408525189 COSM3735607 rs1394746204 |
78 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9802866 rs763025885 |
80 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs138517155 CA9802868 |
81 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA408525221 rs1346438622 |
83 | G>C | No |
ClinGen gnomAD |
|
|
CA313849569 rs866540091 |
83 | G>D | No |
ClinGen Ensembl |
|
|
CA408525222 rs866540091 |
83 | G>V | No |
ClinGen Ensembl |
|
|
CA9802873 COSM1258494 rs567882762 |
84 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA185751 rs727505328 RCV000156874 |
85 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9802874 rs750099922 |
86 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9802877 rs753089175 |
87 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408525243 rs1379600137 |
88 | E>K | No |
ClinGen gnomAD |
|
|
CA9802880 rs781322060 |
90 | S>G | No |
ClinGen ExAC |
|
|
rs987411283 CA313849607 |
91 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408525277 rs1487642158 |
93 | P>L | No |
ClinGen TOPMed |
|
|
CA9802882 rs397517473 |
93 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA138528 RCV000039786 rs397517473 |
93 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA9802885 rs771529313 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772745416 CA9802886 |
96 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763316056 CA9802890 |
102 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794729066 CA335250 RCV000183554 |
104 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA408525348 rs1181779316 |
106 | T>A | No |
ClinGen gnomAD |
|
|
CA313849653 rs757763288 |
107 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9802894 rs367707824 |
108 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368408237 CA408525369 |
109 | K>R | No |
ClinGen gnomAD |
|
|
CA313849657 rs750548324 |
111 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6060966 CA9802895 |
112 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201107614 CA9802896 |
113 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs727503303 RCV000151374 CA177183 |
114 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA9802897 rs749517311 |
115 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001775640 rs727504681 CA183850 RCV000155951 |
115 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1307094136 CA408525413 |
116 | G>E | No |
ClinGen gnomAD |
|
|
VAR_040860 COSM21219 CA408525420 rs1229709568 |
117 | A>V | lung a lung neuroendocrine carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs727503304 CA177186 RCV000151375 |
118 | S>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA408525430 rs1431587843 |
119 | G>D | No |
ClinGen TOPMed |
|
|
CA9802901 rs772075571 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772970924 CA9802902 |
124 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs770276258 CA9802905 |
125 | K>M | No |
ClinGen ExAC |
|
|
rs1244365771 CA408525470 |
125 | K>N | No |
ClinGen gnomAD |
|
|
CA408525478 rs1484040657 |
127 | R>G | No |
ClinGen gnomAD |
|
|
rs141524173 CA9802908 |
127 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275574951 CA408525481 |
127 | R>T | No |
ClinGen gnomAD |
|
|
CA9802909 rs764494869 |
128 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA408525492 rs1345656712 |
129 | G>D | No |
ClinGen TOPMed |
|
|
CA408525499 rs1203086282 |
130 | K>R | No |
ClinGen gnomAD |
|
|
rs774669925 CA9802910 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369402580 CA408525517 |
133 | A>P | No |
ClinGen gnomAD |
|
|
CA408525521 rs1167505406 |
134 | E>K | No |
ClinGen gnomAD |
|
|
rs756224167 CA9802914 |
135 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs750838459 CA9802913 |
135 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408525533 rs1377873302 |
136 | Q>E | No |
ClinGen gnomAD |
|
|
rs1394215124 CA408525543 |
137 | A>G | No |
ClinGen gnomAD |
|
|
CA408525539 rs1278523169 |
137 | A>T | No |
ClinGen TOPMed |
|
|
CA9802916 rs755218790 |
140 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9802917 rs544523496 |
141 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_040861 CA9802918 rs56385445 |
142 | G>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1205554674 CA408525579 |
143 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs34396614 CA9802919 |
144 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34396614 CA408525580 |
144 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408525588 rs1482353646 |
145 | A>V | No |
ClinGen gnomAD |
|
|
RCV001193568 rs2062247462 |
146 | F>L | No |
ClinVar dbSNP |
|
|
CA9802921 rs770490246 |
148 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9802922 rs780660993 |
148 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408525606 rs1449171151 |
148 | H>R | No |
ClinGen gnomAD |
|
|
CA408525630 rs1600407268 |
151 | S>R | No |
ClinGen Ensembl |
|
|
CA408525644 rs1174616595 |
153 | P>R | No |
ClinGen TOPMed |
|
|
RCV000151377 rs140233643 CA177192 |
155 | I>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140233643 CA9802924 |
155 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA313849770 rs369700785 |
157 | S>P | No |
ClinGen Ensembl |
|
|
rs779506369 CA313850090 |
160 | E>D | No |
ClinGen TOPMed |
|
|
CA9802948 rs771585721 |
160 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1402022243 CA408525719 |
164 | A>S | No |
ClinGen TOPMed |
|
|
CA408525748 rs1227080359 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs1568627694 CA408525755 |
169 | S>T | No |
ClinGen Ensembl |
|
|
rs184149704 CA9802951 |
171 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9802950 rs765400667 |
171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs984329796 CA313850106 |
172 | S>L | No |
ClinGen TOPMed |
|
|
rs202084078 CA9802953 |
175 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408525806 rs1312798903 |
177 | E>G | No |
ClinGen gnomAD |
|
|
rs1212897015 CA408525813 |
178 | G>A | No |
ClinGen gnomAD |
|
|
rs756999360 CA9802954 |
179 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472009430 CA408525822 |
180 | P>S | No |
ClinGen gnomAD |
|
|
rs1156783215 CA408525831 |
181 | M>R | No |
ClinGen gnomAD |
|
|
CA408525839 rs1414092771 |
182 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs112657833 CA9802956 |
184 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237412 RCV000172059 rs786205284 |
184 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA408525876 rs1408086070 |
188 | P>H | No |
ClinGen gnomAD |
|
|
rs754616377 CA9802957 |
188 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408525880 rs1290714928 |
189 | R>W | No |
ClinGen gnomAD |
|
|
CA9802958 rs778578033 |
191 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408525906 rs1228303561 |
193 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408525907 rs1228303561 |
193 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747388664 CA9802959 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1568627834 CA408525921 |
195 | E>K | No |
ClinGen Ensembl |
|
|
COSM1025610 rs1450943906 CA408525938 |
197 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA313850142 rs200180101 |
197 | K>R | No |
ClinGen 1000Genomes |
|
|
rs746360476 CA9802961 |
200 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769968444 CA408525959 |
201 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313850148 rs917204433 |
201 | A>T | No |
ClinGen Ensembl |
|
|
COSM723180 rs769968444 CA9802962 |
201 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775405264 CA9802963 |
202 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237415 RCV000172060 rs786205407 |
208 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763051711 CA9802964 |
208 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408526010 rs1294714870 |
209 | E>K | No |
ClinGen TOPMed |
|
|
rs764248903 CA9802965 |
211 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1364246299 CA408526034 |
212 | P>L | No |
ClinGen TOPMed |
|
|
rs1370222906 CA408526056 |
215 | A>V | No |
ClinGen gnomAD |
|
|
CA408526066 rs1433226272 |
217 | Q>R | No |
ClinGen gnomAD |
|
|
CA9802968 rs565588866 |
220 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1040162644 CA313850165 |
221 | Q>K | No |
ClinGen TOPMed |
|
|
CA9802969 rs750419427 |
221 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313850168 rs6060969 |
222 | G>R | No |
ClinGen Ensembl |
|
|
rs756013032 CA408526116 |
224 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9802970 rs756013032 |
224 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs371836552 CA408526120 |
225 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371836552 CA9802971 |
225 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313850175 COSM1025613 rs995863687 |
226 | R>S | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754452054 CA9802973 |
226 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA408526127 rs1247175460 |
227 | G>R | No |
ClinGen gnomAD |
|
|
CA408526129 rs1247175460 |
227 | G>R | No |
ClinGen gnomAD |
|
|
rs757750302 CA9802975 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM723179 rs1469155411 CA408526154 |
231 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1217183183 CA408526162 |
232 | A>T | No |
ClinGen TOPMed |
|
|
CA9802976 COSM3664545 rs781676155 |
234 | P>R | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9802978 rs770237487 |
235 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9802981 rs768716432 COSM1483533 |
239 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA408526207 rs768716432 |
239 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA177198 rs531015124 RCV000151379 |
240 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1428034327 COSM1216282 CA408526221 |
241 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA313850187 rs946243181 |
243 | A>G | No |
ClinGen Ensembl |
|
|
rs767339174 CA9802983 |
248 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303038769 CA408526268 |
249 | R>G | No |
ClinGen TOPMed |
|
|
RCV000490088 rs1085307713 CA408526276 |
250 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001760151 rs773021152 CA9802984 RCV001193567 |
253 | C>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA408526302 rs1344273495 |
253 | C>Y | No |
ClinGen TOPMed |
|
|
rs1408977040 CA408526307 |
254 | F>L | No |
ClinGen gnomAD |
|
|
rs1298315208 CA408526321 |
255 | Q>H | No |
ClinGen TOPMed |
|
|
CA9803004 rs770752983 |
261 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408526390 rs185239866 |
264 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA313850551 rs185239866 |
264 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA408526395 rs1301751855 |
265 | A>P | No |
ClinGen TOPMed |
|
|
CA408526403 rs1159002422 |
266 | P>R | No |
ClinGen gnomAD |
|
|
rs372639122 CA313850559 |
268 | P>R | No |
ClinGen gnomAD |
|
|
rs397517475 CA138549 RCV000039793 |
268 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763058453 CA9803007 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146485342 CA9803008 |
270 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146485342 CA313850562 |
270 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9803011 rs376297935 |
271 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780455797 CA9803010 |
271 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs755539106 CA9803012 |
272 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408526455 rs1287610247 |
275 | R>M | No |
ClinGen gnomAD |
|
|
rs372981969 CA9803015 |
277 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1038176446 CA313850573 |
278 | N>I | No |
ClinGen gnomAD |
|
|
rs1038176446 CA408526474 |
278 | N>S | No |
ClinGen gnomAD |
|
|
rs772072454 CA9803018 |
280 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9803019 rs778033163 |
281 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181579479 CA408526538 |
287 | S>P | No |
ClinGen gnomAD |
|
|
rs1249774186 CA408526564 |
290 | A>V | No |
ClinGen gnomAD |
|
|
rs747236616 CA9803020 COSM2155002 |
291 | L>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9803021 rs770678849 |
292 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1286440 rs1026490690 CA313850588 |
292 | G>R | autonomic_ganglia central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA408526574 rs1456723414 |
293 | G>S | No |
ClinGen gnomAD |
|
|
CA9803044 rs749224761 |
295 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs761178055 CA9803046 |
303 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429733016 CA408526663 |
304 | E>G | No |
ClinGen gnomAD |
|
|
CA9803047 rs767211264 |
304 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9803049 rs765569499 |
307 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803050 rs753248678 |
308 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758869328 CA9803051 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408526721 rs1248764667 |
314 | K>Q | No |
ClinGen TOPMed |
|
|
CA9803055 rs781485658 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781485658 CA408526729 |
315 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA408526740 rs1197270631 |
316 | I>M | No |
ClinGen TOPMed |
|
|
rs1300645321 CA408526735 |
316 | I>V | No |
ClinGen gnomAD |
|
|
CA9803056 rs746087682 |
317 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408526768 rs1225878244 |
320 | T>S | No |
ClinGen gnomAD |
|
|
rs1264321469 CA408526772 |
321 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408526786 rs1214130440 |
323 | D>Y | No |
ClinGen gnomAD |
|
|
rs1486625423 CA408526793 |
324 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA313850780 VAR_040863 rs34146416 |
324 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs753697541 CA9803075 |
325 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA408526812 rs1442940292 |
325 | E>K | No |
ClinGen Ensembl |
|
|
rs754661078 CA9803076 |
327 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1303814987 CA408526843 |
329 | L>P | No |
ClinGen gnomAD |
|
|
CA313851311 rs140117471 |
330 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1234448357 CA408526853 |
331 | I>V | No |
ClinGen TOPMed |
|
|
CA408526867 rs1357697088 |
333 | V>F | No |
ClinGen TOPMed |
|
|
rs771658446 CA9803079 |
334 | M>R | No |
ClinGen ExAC |
|
|
rs771658446 CA408526877 |
334 | M>T | No |
ClinGen ExAC |
|
|
rs1600410782 CA408526894 |
336 | Q>L | No |
ClinGen Ensembl |
|
|
CA408526916 rs1311511445 |
339 | H>Q | No |
ClinGen TOPMed |
|
|
RCV000039775 rs397517471 CA138501 |
339 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763678910 RCV000490204 CA9803080 COSM3840693 |
340 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9803082 rs770590365 |
340 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9803081 rs763678910 |
340 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763314107 CA9803084 |
342 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9803086 rs774984976 |
346 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs527962120 CA9803087 |
349 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202287851 CA408526976 |
350 | E>K | No |
ClinGen gnomAD |
|
|
rs549697670 CA9803089 |
352 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9803090 rs549697670 |
352 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383206566 CA408527019 |
356 | V>A | No |
ClinGen gnomAD |
|
|
rs754860438 CA9803093 |
356 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313851330 rs754860438 |
356 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408527027 rs1214855229 |
358 | F>L | No |
ClinGen TOPMed |
|
|
COSM1681588 rs867414607 CA313851337 |
359 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs943973509 CA313851333 |
359 | M>L | No |
ClinGen gnomAD |
|
|
CA408527037 rs752716920 |
359 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803094 rs752716920 |
359 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943973509 CA408527034 |
359 | M>V | No |
ClinGen gnomAD |
|
|
CA313851339 rs977115591 |
360 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs367922073 CA9803116 |
363 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9803119 rs779709086 |
365 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs748477421 CA9803120 |
366 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10653035 rs886056579 |
367 | L>F | No |
ClinGen Ensembl |
|
|
CA313851353 rs1014504221 |
373 | D>N | No |
ClinGen Ensembl |
|
|
CA408527139 rs1172359830 |
373 | D>V | No |
ClinGen TOPMed |
|
|
rs1346736387 CA408527163 |
376 | Y>C | No |
ClinGen TOPMed |
|
|
rs1156714281 COSM1410975 CA408527172 |
377 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs776601770 CA9803122 |
379 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1174826293 CA408527187 |
380 | E>* | No |
ClinGen gnomAD |
|
|
rs1470480141 CA408527193 |
381 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9803124 rs765387768 |
383 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408527211 rs1383312784 |
383 | T>I | No |
ClinGen gnomAD |
|
|
CA408527218 rs1319892872 |
384 | M>I | No |
ClinGen gnomAD |
|
|
rs1380167218 CA408527214 |
384 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408527237 rs1568631861 |
387 | V>F | No |
ClinGen Ensembl |
|
|
rs775711573 CA9803125 |
389 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408527254 rs775711573 |
389 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9803126 rs762726572 |
390 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335259 rs794729067 |
391 | C>* | No |
ClinGen Ensembl |
|
|
rs794729067 RCV000183562 |
391 | C>* | No |
ClinVar dbSNP |
|
|
rs533840475 CA9803127 |
391 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224086342 CA408527264 |
391 | C>S | No |
ClinGen gnomAD |
|
|
CA9803128 rs757155062 |
393 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757155062 CA408527277 |
393 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957791371 CA313851355 |
394 | I>F | No |
ClinGen gnomAD |
|
|
rs957791371 CA408527282 |
394 | I>V | No |
ClinGen gnomAD |
|
|
rs1312535269 CA408527314 |
398 | H>R | No |
ClinGen gnomAD |
|
|
rs1197394195 CA408527312 |
398 | H>Y | No |
ClinGen gnomAD |
|
|
rs1600411112 CA408527331 |
400 | M>I | No |
ClinGen Ensembl |
|
|
rs749924823 CA9803130 |
400 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779637525 CA408527341 |
402 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408527357 rs1455675649 |
404 | H>R | No |
ClinGen gnomAD |
|
|
rs1457976383 CA408527402 |
409 | P>Q | No |
ClinGen gnomAD |
|
|
rs753472698 CA9803148 |
410 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408527421 rs1331753001 |
412 | I>V | No |
ClinGen gnomAD |
|
|
CA408527430 rs1381852528 |
413 | L>P | No |
ClinGen gnomAD |
|
|
CA408527456 rs1317446638 |
417 | T>A | No |
ClinGen gnomAD |
|
|
COSM1025616 CA9803153 rs781613441 |
419 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA313851762 rs781613441 |
419 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197816369 CA408527471 |
420 | H>Y | No |
ClinGen TOPMed |
|
|
rs1196948669 CA408527485 |
422 | V>L | No |
ClinGen gnomAD |
|
|
CA408527500 rs1269731529 |
424 | I>N | No |
ClinGen TOPMed |
|
|
rs768889465 CA9803157 |
430 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs200390693 CA9803158 COSM271411 |
431 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA408527544 rs1370884458 |
431 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408527566 rs1214562005 |
432 | R>S | No |
ClinGen gnomAD |
|
|
rs763614398 CA9803186 |
435 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9803187 rs756380111 |
437 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs868759961 CA313851774 |
438 | K>E | No |
ClinGen Ensembl |
|
|
rs752755516 CA313851776 |
440 | K>R | No |
ClinGen TOPMed |
|
|
rs1262295922 CA408527632 |
442 | N>T | No |
ClinGen gnomAD |
|
|
rs766917091 CA9803188 |
445 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1286300289 CA408527653 |
445 | T>I | No |
ClinGen TOPMed |
|
|
rs766917091 CA9803189 |
445 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1018109844 CA313851778 |
447 | E>K | No |
ClinGen TOPMed |
|
|
rs1328283923 CA408527668 |
448 | F>L | No |
ClinGen TOPMed |
|
|
rs1157137902 CA408527704 |
453 | V>A | No |
ClinGen gnomAD |
|
|
rs371357235 CA9803193 |
454 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408527715 rs1302597518 |
455 | N>S | No |
ClinGen gnomAD |
|
|
rs1343080513 CA408527732 |
457 | D>V | No |
ClinGen TOPMed |
|
|
CA408527743 rs1407282366 |
459 | I>L | No |
ClinGen gnomAD |
|
|
CA408527756 rs1222457605 |
461 | D>N | No |
ClinGen gnomAD |
|
|
rs1320878497 CA408527790 |
465 | M>T | No |
ClinGen TOPMed |
|
|
CA313851780 rs866504595 |
466 | W>* | No |
ClinGen Ensembl |
|
|
rs776765914 CA9803198 |
468 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1014399187 CA313851782 |
474 | M>V | No |
ClinGen Ensembl |
|
|
CA408527892 rs1338253947 |
478 | G>D | No |
ClinGen gnomAD |
|
|
CA313851836 rs1031638117 |
478 | G>S | No |
ClinGen Ensembl |
|
|
CA408527912 rs1259919417 |
481 | P>H | No |
ClinGen gnomAD |
|
|
CA408527910 COSM1713317 rs1259919417 |
481 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA313851839 rs770698235 |
482 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9803232 rs770698235 |
482 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA408527922 rs1188578785 |
483 | L>P | No |
ClinGen gnomAD |
|
|
CA9803233 rs781515957 |
484 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9803234 rs563583512 |
486 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1424995826 CA408527970 |
490 | T>I | No |
ClinGen gnomAD |
|
|
CA313851840 rs1018606117 |
493 | N>D | No |
ClinGen Ensembl |
|
|
CA9803236 rs141415487 |
493 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1469781019 CA408527988 |
493 | N>S | No |
ClinGen gnomAD |
|
|
rs768264478 CA9803238 |
494 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803237 rs768264478 |
494 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803239 rs747642542 |
495 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA408528007 rs1487051260 |
497 | G>C | No |
ClinGen TOPMed |
|
|
rs1325284328 CA408528008 |
497 | G>D | No |
ClinGen gnomAD |
|
|
CA9803240 rs771722813 |
498 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs772780809 CA9803241 |
499 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1279963761 CA408528019 |
499 | W>R | No |
ClinGen gnomAD |
|
|
CA408528018 rs1279963761 |
499 | W>R | No |
ClinGen gnomAD |
|
|
rs974471969 CA313851843 |
500 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759960723 CA9803242 |
502 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9803243 rs564539888 |
504 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144359857 CA9803244 |
505 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144359857 CA9803245 |
505 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9803246 rs374667330 |
508 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA313851846 rs183224373 |
509 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA313851847 rs907738836 |
510 | S>L | No |
ClinGen Ensembl |
|
|
COSM1025617 CA9803250 rs767857271 |
512 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767857271 CA9803249 |
512 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370240349 CA408528113 |
513 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9803251 rs370240349 |
513 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9803252 rs766067809 |
514 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753625612 CA9803253 |
517 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA313851848 rs754890310 |
520 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9803254 rs754890310 |
520 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA313851849 rs767862952 |
521 | I>F | No |
ClinGen Ensembl |
|
|
rs1056813583 CA313851850 |
524 | D>N | No |
ClinGen gnomAD |
|
|
CA408528190 rs1470149615 |
525 | Q>E | No |
ClinGen TOPMed |
|
|
CA313851851 rs866068753 |
525 | Q>R | No |
ClinGen gnomAD |
|
|
rs1600414233 CA408528197 |
526 | R>W | No |
ClinGen Ensembl |
|
|
CA408528218 rs1267357973 |
527 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408528215 rs1242734567 |
527 | A>T | No |
ClinGen gnomAD |
|
|
CA408528219 rs1267357973 |
527 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408528221 rs1248784651 |
528 | R>Q | No |
ClinGen gnomAD |
|
|
CA079746 rs752617053 |
528 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408528240 rs374233822 |
530 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199374965 CA408528234 |
530 | N>Y | No |
ClinGen gnomAD |
|
|
rs746480315 CA9803275 |
531 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1443680898 CA408528246 |
532 | A>T | No |
ClinGen gnomAD |
|
|
rs756882768 CA9803276 |
533 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9803278 rs749619576 |
536 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408528280 rs1167277803 |
537 | H>Y | No |
ClinGen gnomAD |
|
|
rs1600414450 CA408528290 |
538 | P>L | No |
ClinGen Ensembl |
|
|
CA408528298 rs1397767652 |
539 | W>* | No |
ClinGen gnomAD |
|
|
rs769061608 CA9803279 |
541 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803280 rs775059729 |
542 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313851862 rs868117451 |
544 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs868117451 CA313851863 |
544 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs540151040 COSM443613 CA9803283 |
549 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA313851864 rs551868924 |
549 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA313851866 rs771059154 |
550 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570466350 CA9803284 |
550 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771059154 CA9803285 |
550 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9803286 rs776904119 |
551 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262954625 CA408528376 |
552 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9803287 rs373488404 |
552 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752670235 CA9803288 |
553 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752670235 CA408528382 |
553 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763971356 CA9803290 |
557 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs763971356 CA10577120 RCV000219580 |
557 | Q>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1405172030 CA408528408 |
557 | Q>H | No |
ClinGen gnomAD |
|
|
rs1171089246 CA408528405 |
557 | Q>R | No |
ClinGen gnomAD |
|
|
rs751085181 CA9803291 |
558 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9803294 rs750081049 |
563 | Y>C | No |
ClinGen ExAC |
|
|
CA9803293 rs780776182 |
563 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1342901282 CA408528468 |
566 | K>R | No |
ClinGen gnomAD |
|
|
CA408528472 rs1600414546 |
567 | R>G | No |
ClinGen Ensembl |
|
|
rs139331477 RCV000172062 CA237421 |
567 | R>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9803298 rs374538961 |
568 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374538961 CA9803297 |
568 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9803322 rs774207947 |
571 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1445510948 CA408528516 |
572 | N>H | No |
ClinGen gnomAD |
|
|
CA408528531 rs1424723349 |
573 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767320118 CA9803324 |
574 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223750942 CA408528558 |
578 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760033905 CA9803326 |
580 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA408528574 rs760033905 |
580 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1240286486 CA408528579 |
581 | R>H | No |
ClinGen gnomAD |
|
|
rs753524494 CA9803329 |
586 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA313852011 COSM3840695 rs973371846 |
588 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1390693355 CA408528629 |
588 | S>P | No |
ClinGen TOPMed |
|
|
rs1295031304 CA408528634 |
589 | G>R | No |
ClinGen TOPMed |
|
|
rs150004017 CA9803333 |
590 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408528646 rs1464410221 |
591 | L>R | No |
ClinGen gnomAD |
|
|
rs781492844 CA9803335 |
592 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408528657 rs1447149530 |
593 | A>T | No |
ClinGen gnomAD |
|
|
rs1376357104 CA408528665 |
594 | L>P | No |
ClinGen gnomAD |
|
|
CA9803337 rs756184353 |
596 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA408528677 rs1600415516 |
596 | V>G | No |
ClinGen Ensembl |
1 associated diseases with Q9H1R3
[MIM: 192600]: Cardiomyopathy, familial hypertrophic (CMH)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:11733062}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:11733062}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9H1R3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 285 - 540 | IPR000719 |
| active_site | Serine/threonine-protein kinase, active site | 402 - 414 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 291 - 318 | IPR017441 |
| domain | Myosin light chain kinase 2, catalytic domain | 280 - 540 | IPR042717 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.18 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24347 | SERINE/THREONINE-PROTEIN KINASE |
| PANTHER Subfamily | PTHR24347:SF373 | MYOSIN LIGHT CHAIN KINASE 2, SKELETAL_CARDIAC MUSCLE |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway MLCK Cytoskeletal regulation by Rho GTPase MLCK |
|
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| calmodulin-dependent protein kinase activity | Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. |
| myosin light chain binding | Binding to a light chain of a myosin complex. |
| myosin light chain kinase activity | Catalysis of the reaction: ATP + myosin-light-chain = ADP + myosin-light-chain phosphate. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac muscle tissue are generated and organized. |
| neuromuscular synaptic transmission | The process of synaptic transmission from a neuron to a muscle, across a synapse. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| regulation of muscle filament sliding | Any process that modulates the frequency, rate or extent of muscle filament sliding. |
| skeletal muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. |
| skeletal muscle satellite cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a satellite cell. |
| striated muscle contraction | A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. |
105 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
| Q8WWF8 | CAPSL | Calcyphosin-like protein | Homo sapiens (Human) | PR |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q16816 | PHKG1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Homo sapiens (Human) | PR |
| P15735 | PHKG2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Homo sapiens (Human) | PR |
| Q13554 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens (Human) | EV |
| Q9UQM7 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens (Human) | EV |
| Q13555 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens (Human) | EV |
| Q13557 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATENGAVEL | GIQNPSTDKA | PKGPTGERPL | AAGKDPGPPD | PKKAPDPPTL | KKDAKAPASE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KGDGTLAQPS | TSSQGPKGEG | DRGGGPAEGS | AGPPAALPQQ | TATPETSVKK | PKAEQGASGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDPGKPRVGK | KAAEGQAAAR | RGSPAFLHSP | SCPAIISSSE | KLLAKKPPSE | ASELTFEGVP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MTHSPTDPRP | AKAEEGKNIL | AESQKEVGEK | TPGQAGQAKM | QGDTSRGIEF | QAVPSEKSEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GQALCLTARE | EDCFQILDDC | PPPPAPFPHR | MVELRTGNVS | SEFSMNSKEA | LGGGKFGAVC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TCMEKATGLK | LAAKVIKKQT | PKDKEMVLLE | IEVMNQLNHR | NLIQLYAAIE | TPHEIVLFME |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YIEGGELFER | IVDEDYHLTE | VDTMVFVRQI | CDGILFMHKM | RVLHLDLKPE | NILCVNTTGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVKIIDFGLA | RRYNPNEKLK | VNFGTPEFLS | PEVVNYDQIS | DKTDMWSMGV | ITYMLLSGLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PFLGDDDTET | LNNVLSGNWY | FDEETFEAVS | DEAKDFVSNL | IVKDQRARMN | AAQCLAHPWL |
| 550 | 560 | 570 | 580 | 590 | |
| NNLAEKAKRC | NRRLKSQILL | KKYLMKRRWK | KNFIAVSAAN | RFKKISSSGA | LMALGV |