PDB ID 2KA6     CHAIN A
Protein name CREB-binding protein
Uniprot Accession P45481
The number of similar proteins 9
The number of binding states 7
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2KA6 (CHAIN: A)
1 P42224  
2 Monomeric state
3 P03255  
4 O75030  
5 P15923  
6 P04637  
7 Q02078   Q02078   Q02078   Q02078   Q02078   Q02078  

Downdload

Format:

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Only interaction residues
#binding
partners
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   SPQESRRLSI   QRCIQSLVHA   CQCRNANCSL   PSCQKMKRVV   QHTKGCKRKT   50
51   NGGCPVCKQL   IALCCYHAKH   CQENKCPVPF   CLNIKHKLRQ   QQ   100

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
6_ARG HIS 8.3kJPN
chr22:41572907
-
- 0.0001 - -
10_ILE ASN ClinVar
chr16:3779733
rs2151311733
Likely pathogenic - - not provided [MedGen:C3661900]
13_CYS ARG ClinVar
chr16:3779725
rs1057524802
Likely pathogenic - - not provided [MedGen:CN517202]
17_LEU PRO ClinVar
chr16:3779712
rs1064796457
Pathogenic - - not provided [MedGen:CN517202]
20_ALA THR ClinVar
chr16:3779704
rs1567263529
Likely pathogenic - - not provided|Menke-Hennekam syndrome 1 [MedGen:CN517202|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332]
20_ALA VAL ClinVar
chr16:3779703
rs2051858361
Pathogenic/Likely pathogenic - - not provided [MedGen:CN517202]
21_CYS PHE ClinVar
chr16:3779700
rs2151311520
Likely pathogenic - - Tip-toe gait [Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144]
24_ARG CYS ClinVar
chr16:3779692
rs1555471394
Pathogenic/Likely pathogenic - - Inborn genetic diseases|not provided [MeSH:D030342,MedGen:C0950123|MedGen:C3661900]
24_ARG HIS ClinVar
chr16:3779691
rs988251457
Pathogenic/Likely pathogenic - - Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN517202]
24_ARG GLY ClinVar
chr16:3779692
-
Likely pathogenic - - Menke-Hennekam syndrome 1 [MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332]
24_ARG PRO ClinVar
chr16:3779691
-
Likely pathogenic - - CREBBP-related condition [-]
25_ASN LYS ClinVar
chr16:3779687
rs375462934
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
26_ALA THR ClinVar
chr16:3779686
rs1064795794
Likely pathogenic - - not provided [MedGen:CN517202]
27_ASN THR ClinVar
chr16:3779682
rs1064794963
Likely pathogenic - - not provided [MedGen:CN517202]
27_ASN LYS ClinVar
chr16:3779681
rs2151311363
Likely pathogenic - - See cases [-]
41_GLN LEU 8.3kJPN
chr22:41573012
-
- 0.0001 - -
42_HIS GLN ClinVar
chr16:3779636
rs797045496
Likely pathogenic - - Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783]
48_ARG CYS 8.3kJPN
chr16:3779620
-
- 0.0001 - -
51_ASN LYS ClinVar
chr16:3779609
rs372253007
Pathogenic - - not provided [MedGen:C3661900]
54_CYS GLY 8.3kJPN
chr22:41573050
rs779153578
- 0.0005 - -
76_CYS TYR ClinVar
chr16:3779535
-
Pathogenic - - not provided [MedGen:CN517202]
89_ARG GLN 8.3kJPN
chr22:41573156
rs765425263
- 0.0001 - -
91_GLN PRO ClinVar
chr16:3779490
-
Pathogenic/Likely pathogenic - - Menke-Hennekam syndrome 1|Inborn genetic diseases [MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332|MeSH:D030342,MedGen:C0950123]
92_GLN PRO ClinVar
chr16:3779487
rs2051852330
Likely pathogenic - - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
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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.