PDB ID | 2IAE
|
CHAIN | B |
---|---|---|---|
Protein name | Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform | ||
Uniprot Accession | Q13362 | ||
The number of similar proteins | 13 | ||
The number of binding states | 6 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2IAE (CHAIN: B) | |
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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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
31_ARG | THR |
8.3kJPN chr14:102285420 - |
- | 0.0001 | 0.3398 | - | |
51_VAL | ILE |
8.3kJPN chr14:102323079 rs114821166 |
- | 0.0001 | 0.0835 | - | |
69_LYS | MET |
ClinVar chr6:42974760 rs2150278470 |
Pathogenic | - | 0.997 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
74_ASN | ASP |
8.3kJPN chr6:42974774 - |
- | 0.0001 | - | - | |
121_GLU | LYS |
ClinVar chr6:42975000 rs863225081 |
Pathogenic/Likely pathogenic | - | 0.998 | not provided|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|PPP2R5D-related condition [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|] | |
121_GLU | GLY |
ClinVar chr6:42975001 rs1339608272 |
Likely pathogenic | - | 0.9867 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
121_GLU | GLN |
8.3kJPN chr6:42975000 - |
- | 0.0001 | 0.992 | - | |
122_GLU | LYS |
ClinVar chr6:42975003 - |
Pathogenic | - | 0.9983 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided|Inborn genetic diseases|Intellectual disability|Global developmental delay|See cases|Neurodevelopmental delay [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874||Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
122_GLU | LYS |
ClinVar chr14:102348567 rs1595460164 |
Likely pathogenic | - | 0.9983 | Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756] | |
124_GLU | LYS |
ClinVar chr6:42975009 rs863225079 |
Pathogenic/Likely pathogenic | - | 0.997 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided|Inborn genetic diseases [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900|MeSH:D030342,MedGen:C0950123] | |
125_PRO | ARG |
ClinVar chr6:42975013 rs876657383 |
Pathogenic | - | 0.9989 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900] | |
131_TRP | ARG |
ClinVar chr6:42975030 rs869320691 |
Pathogenic | - | 0.9999 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
131_TRP | ARG |
ClinVar chr6:42975030 rs869320691 |
Pathogenic/Likely pathogenic | - | 0.9999 | not provided|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MedGen:C3661900|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
131_TRP | CYS |
ClinVar chr6:42975032 rs2150278805 |
Pathogenic/Likely pathogenic | - | 0.9998 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900] | |
131_TRP | CYS |
ClinVar chr6:42975032 rs2150278805 |
Pathogenic | - | 0.9998 | not provided [MedGen:C3661900] | |
131_TRP | SER |
ClinVar chr6:42975031 rs2150278804 |
Pathogenic | - | 0.9985 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
133_HIS | ARG |
ClinVar chr14:102348601 rs2140894443 |
Likely pathogenic | - | 0.9987 | See cases [-] | |
133_HIS | TYR |
ClinVar chr6:42975036 - |
Likely pathogenic | - | 0.9904 | not provided [MedGen:C3661900] | |
133_HIS | GLN |
8.3kJPN chr6:42975038 - |
- | 0.0001 | 0.9973 | - | |
141_PHE | LEU |
ClinVar chr6:42975167 - |
Likely pathogenic | - | 0.9707 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
155_ALA | VAL |
8.3kJPN chr14:102349652 rs748009220 |
- | 0.0002 | 0.9696 | - | |
175_ASP | ALA |
ClinVar chr6:42975698 rs1064794719 |
Pathogenic | - | 0.9986 | Inborn genetic diseases|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900] | |
177_ARG | PRO |
ClinVar chr6:42975704 rs1131691266 |
Pathogenic | - | 0.9997 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome|not provided [MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279|MedGen:C3661900] | |
177_ARG | GLY |
ClinVar chr6:42975703 rs2150279781 |
Pathogenic | - | 0.9988 | not provided [MedGen:C3661900] | |
261_SER | ASN |
8.3kJPN chr14:102359429 - |
- | 0.0001 | 0.8777 | - | |
263_TYR | CYS |
8.3kJPN chr6:42976203 - |
- | 0.0001 | 0.973 | - | |
272_VAL | MET |
8.3kJPN chr14:102360859 - |
- | 0.0001 | 0.973 | - | |
325_GLU | GLY |
8.3kJPN chr14:102368177 - |
- | 0.0001 | 0.2729 | - | |
344_GLU | LYS |
ClinVar chr6:42977066 rs863225080 |
Pathogenic | - | 0.9995 | not provided|Inborn genetic diseases|Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014602,MedGen:C5779996,OMIM:616355,Orphanet:457279] | |
359_ILE | VAL |
8.3kJPN chr6:42977111 rs755300874 |
- | 0.0001 | 0.1318 | - | |
370_MET | ILE |
8.3kJPN chr14:102372825 - |
- | 0.0001 | 0.9009 | - | |
386_ILE | VAL |
8.3kJPN chr14:102375930 - |
- | 0.0001 | 0.8584 | - |