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 | 10 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
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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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
31_ARG | THR |
8.3kJPN chr14:102285420 |
-
|
- | 0.0001 | - | |
51_VAL | ILE |
8.3kJPN chr14:102323079 |
rs114821166
|
- | 0.0001 | - | |
74_ASN | ASP |
8.3kJPN chr6:42974774 |
-
|
- | 0.0001 | - | |
121_GLU | LYS |
ClinVar chr6:42975000 |
rs863225081
|
Pathogenic | - | not provided [MedGen:CN517202] | |
121_GLU | GLN |
8.3kJPN chr6:42975000 |
-
|
- | 0.0001 | - | |
122_GLU | LYS |
ClinVar chr6:42975003 |
rs863225082
|
Pathogenic/Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Mental retardation, autosomal dominant 35 [MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279]; not provided [MedGen:CN517202] | |
124_GLU | LYS |
ClinVar chr6:42975009 |
rs863225079
|
Pathogenic | - | Mental retardation, autosomal dominant 35 [MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279]; not provided [MedGen:CN517202] | |
125_PRO | ARG |
ClinVar chr6:42975013 |
rs876657383
|
Pathogenic | - | Mental retardation, autosomal dominant 35 [MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279]; not provided [MedGen:CN517202] | |
131_TRP | ARG |
ClinVar chr6:42975030 |
rs869320691
|
Pathogenic | - | Mental retardation, autosomal dominant 35 [MedGen:C4225354,OMIM:616355,Orphanet:ORPHA457279] | |
131_TRP | ARG |
ClinVar chr6:42975030 |
rs869320691
|
Pathogenic | - | not provided [MedGen:CN517202] | |
133_HIS | GLN |
8.3kJPN chr6:42975038 |
-
|
- | 0.0001 | - | |
155_ALA | VAL |
8.3kJPN chr14:102349652 |
rs748009220
|
- | 0.0002 | - | |
175_ASP | VAL |
ClinVar chr6:42975698 |
rs1064794719
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
261_SER | ASN |
8.3kJPN chr14:102359429 |
-
|
- | 0.0001 | - | |
263_TYR | CYS |
8.3kJPN chr6:42976203 |
-
|
- | 0.0001 | - | |
272_VAL | MET |
8.3kJPN chr14:102360859 |
-
|
- | 0.0001 | - | |
325_GLU | GLY |
8.3kJPN chr14:102368177 |
-
|
- | 0.0001 | - | |
344_GLU | LYS |
ClinVar chr6:42977066 |
rs863225080
|
Pathogenic/Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; not provided [MedGen:CN517202] | |
359_ILE | VAL |
8.3kJPN chr6:42977111 |
rs755300874
|
- | 0.0001 | - | |
370_MET | ILE |
8.3kJPN chr14:102372825 |
-
|
- | 0.0001 | - | |
386_ILE | VAL |
8.3kJPN chr14:102375930 |
-
|
- | 0.0001 | - |