PDB ID | 1ALY
|
CHAIN | A |
---|---|---|---|
Protein name | CD40 LIGAND | ||
Uniprot Accession | P29965 | ||
The number of similar proteins | 11 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1ALY (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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5 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
116_GLY | ARG | VAR_017929 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
116_GLY | SER | VAR_017930 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
123_ALA | GLU | VAR_007514 |
rs104894778
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
123_ALA | GLU |
ClinVar chrX:135738536 |
rs104894778
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
123_ALA | VAL |
8.3kJPN chrX:135738536 |
rs104894778
|
- | 0.0002 | - | |
125_HIS | ARG | VAR_017926 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
126_VAL | ALA | VAR_007515 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
126_VAL | ASP | VAR_017931 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | CYS | VAR_007517 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | GLY | VAR_007518 |
rs104894777
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | ARG | VAR_007519 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | TER |
ClinVar chrX:135741207 |
rs104894775
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
140_TRP | GLY |
ClinVar chrX:135741206 |
rs104894777
|
Likely pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088]; not provided [MedGen:CN517202] | |
141_ALA | PRO |
ClinVar chrX:135741209 |
rs1387503550
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
141_ALA | THR |
8.3kJPN chrX:135741209 |
rs1387503550
|
- | 0.0004 | - | |
143_LYS | THR | VAR_017932 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU | VAR_007520 |
rs886039326
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU |
ClinVar chrX:135741219 |
rs886039326
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
147_THR | ASN | VAR_017922 |
rs1057521127
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
147_THR | ASN |
ClinVar chrX:135741228 |
rs1057521127
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
155_LEU | PRO | VAR_007521 |
rs104894769
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
155_LEU | PRO |
ClinVar chrX:135741252 |
rs104894769
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
155_LEU | GLN |
ClinVar chrX:135741252 |
rs104894769
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
163_VAL | ILE |
gnomAD chrX:135741275 |
rs199914973
|
- | 0.00013661 | - | |
169_TYR | CYS |
ClinVar chrX:135741294 |
rs786205606
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
170_TYR | CYS | VAR_017923 |
rs756468554
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
173_ALA | ASP | VAR_017933 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
174_GLN | ARG | VAR_017927 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
176_THR | ILE | VAR_017934 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
181_ARG | GLN |
gnomAD chrX:135741330 |
rs11575982
|
- | 0.00183427 | - | |
195_LEU | PRO | VAR_017935 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
199_GLY | SER |
8.3kJPN chrX:135741383 |
rs769728462
|
- | 0.0002 | - | |
201_PHE | LEU |
gnomAD chrX:135741389 |
rs144827029
|
- | 0.000109186 | - | |
202_GLU | GLN |
8.3kJPN chrX:135741392 |
-
|
- | 0.0001 | - | |
208_ALA | ASP | VAR_017936 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
211_THR | ASN | VAR_007522 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
219_GLY | ARG | VAR_007523 |
rs148594123
|
Polymorphism | - | - | |
219_GLY | ARG |
gnomAD chrX:135741443 |
rs148594123
|
- | 0.0110849 | - | |
220_GLN | TER |
ClinVar chrX:135741446 |
rs1085307733
|
Pathogenic | - | not provided [MedGen:CN517202] | |
224_HIS | TYR | VAR_017937 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
226_GLY | ALA | VAR_017938 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL | VAR_007524 |
rs104894768
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL |
ClinVar chrX:135741468 |
rs104894768
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
231_LEU | SER | VAR_007526 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
235_ALA | PRO | VAR_007527 |
rs104894771
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
235_ALA | PRO |
ClinVar chrX:135741491 |
rs104894771
|
Pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
237_VAL | GLU | VAR_017939 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET | VAR_007528 |
rs193922136
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET |
ClinVar chrX:135741549 |
rs193922136
|
Pathogenic | - | Hyperimmunoglobulin M syndrome [MedGen:C0272236,SNOMED CT:82286005]; Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
254_THR | LYS |
ClinVar chrX:135741549 |
rs193922136
|
Likely pathogenic | - | Immunodeficiency with hyper IgM type 1 [MedGen:C0398689,OMIM:308230,Orphanet:ORPHA101088] | |
256_PHE | SER |
ClinVar chrX:135741555 |
rs1057521128
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
257_GLY | SER | VAR_017928 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
257_GLY | ASP | VAR_017940 |
rs1477466218
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
258_LEU | SER | VAR_017924 |
-
|
Disease | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] |