| PDB ID | 1MC0
|
CHAIN | A |
|---|---|---|---|
| Protein name | 3',5'-cyclic nucleotide phosphodiesterase 2A | ||
| Uniprot Accession | Q922S4 | ||
| The number of similar proteins | 1 | ||
| The number of binding states | 1 | ||
| The number of binding partners | 0 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1MC0 (CHAIN: A) | |
| 1 | Monomeric state |
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 216_THR | ILE |
gnomAD chr11:72301503 |
rs341047
|
- | 0.107659 | - | |
| 216_THR | ILE |
8.3kJPN chr11:72301503 |
rs341047
|
- | 0.0712 | - | |
| 218_ARG | CYS |
gnomAD chr11:72301498 |
rs371714314
|
- | 0.000197605 | - | |
| 233_ASP | TYR |
8.3kJPN chr11:72301271 |
-
|
- | 0.0001 | - | |
| 240_LYS | GLU |
8.3kJPN chr11:72301250 |
-
|
- | 0.0001 | - | |
| 242_LEU | PHE |
8.3kJPN chr11:72301244 |
rs767305080
|
- | 0.0002 | - | |
| 250_ARG | GLN |
8.3kJPN chr11:72301009 |
-
|
- | 0.0001 | - | |
| 255_CYS | GLY |
gnomAD chr11:72300995 |
rs765765634
|
- | 0.000101294 | - | |
| 262_ASP | TYR |
8.3kJPN chr11:72300974 |
-
|
- | 0.0001 | - | |
| 315_MET | ILE |
gnomAD chr11:72299932 |
rs148079689
|
- | 0.000324509 | - | |
| 354_GLU | LYS |
gnomAD chr11:72297215 |
rs201256182
|
- | 0.000102465 | - | |
| 356_GLU | LYS |
gnomAD chr11:72297209 |
rs139844982
|
- | 0.000659105 | - | |
| 361_HIS | ASP |
8.3kJPN chr11:72297194 |
-
|
- | 0.0001 | - | |
| 369_VAL | MET |
8.3kJPN chr11:72297170 |
rs758964461
|
- | 0.0001 | - | |
| 387_GLN | TER |
ClinVar chr11:72297116 |
rs1591023585
|
Pathogenic | - | 6 conditions|Intellectual developmental disorder with paroxysmal dyskinesia or seizures [6 conditions|MONDO:MONDO:0030900,MedGen:C5436894,OMIM:619150] | |
| 412_THR | MET |
8.3kJPN chr11:72296445 |
rs763395523
|
- | 0.0001 | - | |
| 455_ASP | ASN |
8.3kJPN chr11:72295748 |
-
|
- | 0.0001 | - | |
| 473_ASP | GLY |
ClinVar chr11:72295693 |
rs1855880808
|
Pathogenic | - | Intellectual developmental disorder with paroxysmal dyskinesia or seizures [MONDO:MONDO:0030900,MedGen:C5436894,OMIM:619150] | |
| 474_ALA | VAL |
8.3kJPN chr11:72295690 |
-
|
- | 0.0001 | - | |
| 523_SER | GLY |
8.3kJPN chr11:72295307 |
-
|
- | 0.0001 | - | |
| 543_HIS | LEU |
8.3kJPN chr11:72295246 |
-
|
- | 0.0004 | - |