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 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1AH1 (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
6_PRO | ALA |
ClinVar chr2:204735326 rs1581573640 |
Likely pathogenic | - | 0.4625 | 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 | - | 0.9439 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [MONDO:MONDO:0014493,MedGen:C4015214,OMIM:616100,Orphanet:436159] | |
33_ARG | TRP |
VAR_072681
rs606231422 |
LP/P | - | 0.4657 | Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) [MIM:616100] | |
38_ARG | TRP |
ClinVar chr2:204735422 rs1688714312 |
Pathogenic | - | 0.2572 | 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 | 0.1243 | - | |
74_GLY | GLU |
gnomAD chr2:204735525 rs144988077 |
- | 0.000227454 | 0.1276 | - | |
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 | - | 0.8611 | not provided [MedGen:C3661900] | |
102_PRO | ARG |
ClinVar chr2:204735609 rs1553657429 |
Likely pathogenic | - | 0.8728 | Inherited Immunodeficiency Diseases [MeSH:D000081207,MedGen:C5197805] | |
103_PRO | THR |
ClinVar chr2:204735611 rs1553657430 |
Pathogenic | - | 0.8916 | 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 | - | 0.7641 | 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 | - | 0.7375 | 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] |