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

Coloring

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  

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Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   GVRKGWHEHV   TQDLRSHLVH   KLVQAIFPTP   DPAALKDRRM   ENLVAYAKKV   50
51   EGDMYESANS   RDEYYHLLAE   KIYKIQKELE   EKRRSRL     100

Variants

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 -
6_TRP TER ClinVar
chr16:3830780
-
Likely pathogenic - - not provided [MedGen:C3661900]
8_GLU TER ClinVar
chr16:3830776
-
Likely pathogenic - - Menke-Hennekam syndrome 1 [MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332]
15_ARG TER ClinVar
chr22:41533772
rs137853038
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]
15_ARG GLN ClinVar
chr22:41533773
-
Likely pathogenic - - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,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
rs2145725035
Pathogenic - - not provided [MedGen:C3661900]
64_TYR PHE VAR_072915
-
LP/P - 0.9131 Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
64_TYR HIS ClinVar
chr16:3828177
rs2141234826
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
68_LEU PRO ClinVar
chr22:41537071
-
Likely pathogenic - - not provided [MedGen:C3661900]
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]
76_GLN LYS ClinVar
chr22:41537094
-
Likely pathogenic - - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.