| PDB ID | 3E7A
|
CHAIN | A |
|---|---|---|---|
| Protein name | Serine/threonine-protein phosphatase PP1-alpha catalytic subunit | ||
| Uniprot Accession | P62136 | ||
| The number of similar proteins | 67 | ||
| The number of binding states | 28 | ||
| The number of binding partners | 19 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3E7A (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
Q4VY12
|
| 3 |
O35274
|
| 4 |
Q13625
|
| 5 |
O55000
|
| 6 |
O75807
|
| 7 |
Q69YH5
|
| 8 |
Q05C46
|
| 9 |
Q00756
|
| 10 |
Q9UQK1
|
| 11 |
O60927
|
| 12 |
Q12972
|
| 13 |
Q14684
|
| 14 |
Q15435
|
| 15 |
P62136
|
| 16 |
Q9DCL8
|
| 17 |
Q5SWA1
|
| 18 |
Q90624
|
| 19 |
P62136
O35867
|
| 20 |
O60927
Q15435
|
| 21 |
Q9UQ13
O14807
|
| 22 |
Q9UQ13
O14807
|
| 23 |
P62137
Q16821
|
| 24 |
P62136
O35867
O35867
|
| 25 |
P62136
Q4VY12
Q4VY12
|
| 26 |
P62136
P62136
Q4VY12
|
| 27 |
P62136
P62136
P62136
Q4VY12
|
| 28 |
P62136
P62136
P62136
Q4VY12
Q4VY12
|
|
Only interaction residues |
|
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|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 10_ASP | GLY |
8.3kJPN chr11:67169225 rs766387418 |
- | 0.0001 | 0.7223 | - | |
| 12_ILE | THR |
8.3kJPN chr11:67169219 - |
- | 0.0002 | 0.8319 | - | |
| 43_ARG | CYS |
8.3kJPN chr12:111169635 - |
- | 0.0001 | 0.9532 | - | |
| 50_PRO | ARG |
ClinVar chr2:28999810 rs886037952 |
Pathogenic | - | 0.9557 | not provided|Noonan syndrome-like disorder with loose anagen hair 2|Noonan syndrome|Dandy-Walker syndrome|Inborn genetic diseases|Neurodevelopmental delay [MedGen:C3661900|MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|Human Phenotype Ontology:HP:0001305,Human Phenotype Ontology:HP:0001313,Human Phenotype Ontology:HP:0006809,MONDO:MONDO:0009072,MeSH:D003616,MedGen:C0010964,OMIM:220200,Orphanet:217|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
| 50_PRO | ARG |
8.3kJPN chr11:67168577 - |
- | 0.0001 | 0.9557 | - | |
| 57_ALA | PRO |
ClinVar chr2:28999830 rs1114167429 |
Pathogenic | - | 0.6766 | Noonan syndrome-like disorder with loose anagen hair 2 [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] | |
| 74_ARG | GLN |
8.3kJPN chr12:111168531 rs1212732502 |
- | 0.0001 | 0.897 | - | |
| 86_ASN | LYS |
ClinVar chr2:29001745 rs1553310744 |
Likely pathogenic | - | 0.9775 | not provided [MedGen:C3661900] | |
| 100_SER | ALA |
8.3kJPN chr11:67168280 - |
- | 0.0001 | 0.841 | - | |
| 111_LYS | GLU |
8.3kJPN chr11:67168247 - |
- | 0.0001 | 0.9979 | - | |
| 118_PHE | LEU |
8.3kJPN chr2:29001839 - |
- | 0.0001 | 0.9793 | - | |
| 162_ALA | THR |
8.3kJPN chr12:111162504 rs1377289520 |
- | 0.0001 | 0.4779 | - | |
| 166_ASP | HIS |
ClinVar chr2:29004681 - |
Likely pathogenic | - | 0.9679 | Noonan syndrome-like disorder with loose anagen hair 2 [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] | |
| 184_GLU | ALA |
ClinVar chr2:29006800 rs886037954 |
Pathogenic | - | 0.6814 | Noonan syndrome-like disorder with loose anagen hair 2|Inborn genetic diseases|not provided [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506|MeSH:D030342,MedGen:C0950123|MedGen:C3661900] | |
| 184_GLU | VAL |
ClinVar chr2:29006800 rs886037954 |
Pathogenic | - | 0.8921 | not provided|Noonan syndrome-like disorder with loose anagen hair 2 [MedGen:CN517202|MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] | |
| 187_ARG | GLN |
8.3kJPN chr12:111160464 rs1276219223 |
- | 0.0001 | 0.4954 | - | |
| 221_ARG | CYS |
ClinVar chr2:29011589 rs1553311527 |
Pathogenic/Likely pathogenic | - | 0.9996 | not provided|Noonan syndrome-like disorder with loose anagen hair 2 [MedGen:CN517202|MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] | |
| 230_GLU | LYS |
8.3kJPN chr11:67166470 rs1204847934 |
- | 0.0001 | 0.7206 | - | |
| 245_CYS | TYR |
8.3kJPN chr12:111160290 rs1260548492 |
- | 0.0001 | 0.9994 | - | |
| 253_ASP | TYR |
ClinVar chr2:29016738 rs886037953 |
Likely pathogenic | - | 0.9911 | not provided [MedGen:CN517202] | |
| 253_ASP | GLY |
ClinVar chr2:29016739 - |
Likely pathogenic | - | 0.9899 | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 257_PHE | ILE |
8.3kJPN chr11:67166306 rs1284030697 |
- | 0.0042 | 0.9981 | - | |
| 275_GLU | LYS |
ClinVar chr2:29016804 rs886037955 |
Pathogenic | - | 0.9944 | Noonan syndrome-like disorder with loose anagen hair 2 [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] |