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 | 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 |
Only interaction residues |
|
||||||||||||||
|
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] |