PDB ID | 2KWF
|
CHAIN | A |
---|---|---|---|
Protein name | CREB-binding protein | ||
Uniprot Accession | Q92793 | ||
The number of similar proteins | 15 | ||
The number of binding states | 6 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2KWF (CHAIN: A) | |
1 | Monomeric state |
2 |
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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 | |
---|---|---|---|---|---|---|---|
1_GLY | ASP |
8.3kJPN chr16:3830796 - |
- | 0.0002 | 0.447 | - | |
15_ARG | TER |
ClinVar chr22:41533772 rs137853038 |
Pathogenic/Likely pathogenic | - | - | Carcinoma of colon|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
15_ARG | TRP |
ClinVar chr16:3830755 rs1354934373 |
Likely pathogenic | - | 0.9989 | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
16_ASN | SER |
8.3kJPN chr22:41533776 - |
- | 0.0001 | - | - | |
22_LEU | PRO |
ClinVar chr16:3830733 rs2053254528 |
Likely pathogenic | - | 1.0 | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
41_GLU | ASP |
8.3kJPN chr22:41536201 - |
- | 0.0002 | 0.2825 | - | |
58_ALA | PRO |
ClinVar chr16:3828712 rs2141237064 |
Likely pathogenic | - | 0.9983 | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
61_ARG | TER |
ClinVar chr22:41536259 - |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
64_TYR | PHE |
VAR_072915
- |
LP/P | - | 0.9131 | Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] | |
73_TYR | TER |
ClinVar chr16:3828148 rs2053190428 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
83_ARG | TER |
ClinVar chr22:41537115 rs137853039 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] |