PDB ID | 1L3E
|
CHAIN | B |
---|---|---|---|
Protein name | p300 protein | ||
Uniprot Accession | Q09472 | ||
The number of similar proteins | 9 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1L3E (CHAIN: B) | |
1 |
![]() |
2 | Monomeric state |
3 |
![]() |
4 |
![]() |
5 |
![]() |
Only interaction residues |
|
||||||||||||
![]() ![]() ![]() |
|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
117_GLN | TER |
ClinVar chr16:3843540 rs587783460 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
119_GLN | TER |
ClinVar chr16:3843534 rs121434625 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
127_HIS | PRO |
ClinVar chr16:3843509 - |
Likely pathogenic | - | 0.9996 | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
129_CYS | PHE |
ClinVar chr16:3843503 rs1057518498 |
Likely pathogenic | - | 0.9998 | not provided [MedGen:CN517202] | |
132_ARG | TER |
ClinVar chr16:3843495 rs1384496494 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations|Corpus callosum, agenesis of [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|Human Phenotype Ontology:HP:0001274,Human Phenotype Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990,Orphanet:200] | |
134_GLN | TER |
ClinVar chr22:41523650 rs1555907278 |
Pathogenic | - | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
142_CYS | TER |
ClinVar chr22:41523676 rs786205557 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
148_ARG | TER |
ClinVar chr16:3843447 rs587783461 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
166_CYS | TER |
ClinVar chr22:41523748 rs1555907286 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
169_ALA | SER |
8.3kJPN chr22:41525896 - |
- | 0.0001 | 0.6601 | - | |
175_ARG | TER |
ClinVar chr16:3842075 rs1302427305 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN517202] | |
181_TRP | TER |
ClinVar chr16:3842055 rs587783463 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
185_THR | ALA |
8.3kJPN chr16:3842045 - |
- | 0.0001 | 0.7673 | - | |
186_ARG | TER |
ClinVar chr16:3842042 rs587783464 |
Pathogenic | - | - | Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN517202] |