PDB ID 1AH1     CHAIN A
Protein name CTLA-4
Uniprot Accession P16410
The number of similar proteins 20
The number of binding states 11
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1AH1 (CHAIN: A)
1 Monomeric state
2 P16410  
3 6RQM  
4 P33681  
5 3BX7  
6 6RPJ  
7 P16410   P42081  
8 5GGV   5GGV  
9 8HIT   8HIT  
10 P16410   7DV4  
11 P16410   7DV4   7DV4  

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

Sequence information

1   AMHVAQPAVV   LASSRGIASF   VCEYASPGKA   TEVRVTVLRQ   ADSQVTEVCA   50
51   ATYMMGNELT   FLDDSICTGT   SSGNQVNLTI   QGLRAMDTGL   YICKVELMYP   100
101   PPYYLGIGNG   TQIYVIDPEP   CPDSDQEPK       150

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
6_PRO ALA ClinVar
chr2:204735326 		rs1581573640
Likely pathogenic - Inherited Immunodeficiency Diseases [MeSH:D000081207,MedGen:C5197805]
14_ARG TER ClinVar
chr2:204735350 		rs606231417
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|not provided|Inborn genetic diseases [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
17_ALA PRO ClinVar
chr2:204735359 		-
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
33_ARG TRP VAR_072681 rs606231422
LP/P - Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) [MIM:616100]
38_ARG TRP ClinVar
chr2:204735422 		rs1688714312
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
39_GLN TER ClinVar
chr2:204735425 		rs1688714490
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
43_GLN TER ClinVar
chr2:204735437 		rs1688714703
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
45_THR ILE 8.3kJPN
chr2:204735444 		-
- 0.0001 -
74_GLY GLU gnomAD
chr2:204735525 		rs144988077
- 0.000227454 -
82_GLN TER ClinVar
chr2:204735548 		rs1688716836
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
92_TYR TER ClinVar
chr2:204735580 		-
Likely pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
101_PRO LEU ClinVar
chr2:204735606 		-
Likely pathogenic - not provided [MedGen:C3661900]
102_PRO ARG ClinVar
chr2:204735609 		rs1553657429
Likely pathogenic - Inherited Immunodeficiency Diseases [MeSH:D000081207,MedGen:C5197805]
103_PRO THR ClinVar
chr2:204735611 		rs1553657430
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
104_TYR SER ClinVar
chr2:204735615 		rs1581573923
Likely pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
105_TYR TER ClinVar
chr2:204735619 		rs1357409506
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
112_GLY ARG ClinVar
chr2:204735635 		rs1688718864
Pathogenic/Likely pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|Inborn genetic diseases [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159|MeSH:D030342,MedGen:C0950123]
116_TYR TER ClinVar
chr2:204735649 		-
Pathogenic - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159]
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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.