PDB ID | 5ZT0
|
CHAIN | A |
---|---|---|---|
Protein name | Serine/threonine-protein phosphatase PP1-alpha catalytic subunit | ||
Uniprot Accession | P62137 | ||
The number of similar proteins | 67 | ||
The number of binding states | 28 | ||
The number of binding partners | 20 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
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5ZT0 (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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13 |
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14 |
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15 |
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16 |
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17 |
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18 |
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19 |
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20 |
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21 |
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22 |
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23 |
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24 |
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25 |
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26 |
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27 |
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28 |
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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 | - | - | |
12_ILE | THR |
8.3kJPN chr11:67169219 - |
- | 0.0002 | - | - | |
43_ARG | CYS |
8.3kJPN chr12:111169635 - |
- | 0.0001 | - | - | |
50_PRO | ARG |
ClinVar chr2:28999810 rs886037952 |
Pathogenic | - | - | 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 | - | - | |
57_ALA | PRO |
ClinVar chr2:28999830 rs1114167429 |
Pathogenic | - | - | 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 | - | - | |
86_ASN | LYS |
ClinVar chr2:29001745 rs1553310744 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
100_SER | ALA |
8.3kJPN chr11:67168280 - |
- | 0.0001 | - | - | |
111_LYS | GLU |
8.3kJPN chr11:67168247 - |
- | 0.0001 | - | - | |
118_PHE | LEU |
8.3kJPN chr2:29001839 - |
- | 0.0001 | - | - | |
162_ALA | THR |
8.3kJPN chr12:111162504 rs1377289520 |
- | 0.0001 | - | - | |
166_ASP | HIS |
ClinVar chr2:29004681 - |
Likely pathogenic | - | - | Noonan syndrome-like disorder with loose anagen hair 2 [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] | |
184_GLU | ALA |
ClinVar chr2:29006800 rs886037954 |
Pathogenic | - | - | 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 | - | - | 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 | - | - | |
221_ARG | CYS |
ClinVar chr2:29011589 rs1553311527 |
Pathogenic/Likely pathogenic | - | - | 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 | - | - | |
245_CYS | TYR |
8.3kJPN chr12:111160290 rs1260548492 |
- | 0.0001 | - | - | |
253_ASP | TYR |
ClinVar chr2:29016738 rs886037953 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
253_ASP | GLY |
ClinVar chr2:29016739 - |
Likely pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
257_PHE | ILE |
8.3kJPN chr11:67166306 rs1284030697 |
- | 0.0042 | - | - | |
275_GLU | LYS |
ClinVar chr2:29016804 rs886037955 |
Pathogenic | - | - | Noonan syndrome-like disorder with loose anagen hair 2 [MONDO:MONDO:0054588,MedGen:C4479577,OMIM:617506] |