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 | Q03164 |
3 | 2LQH |
4 | P16220 |
5 | Q04206 |
6 | Q2Q067 P06876 |
Only interaction residues |
|
||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
1_GLY | ASP |
8.3kJPN chr16:3830796 |
-
|
- | 0.0002 | - | |
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 | - | 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 | - | 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 | - | |
58_ALA | PRO |
ClinVar chr16:3828712 |
rs2141237064
|
Likely pathogenic | - | 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 | - | 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] |