PDB ID | 1ALY
|
CHAIN | A |
---|---|---|---|
Protein name | CD40 LIGAND | ||
Uniprot Accession | P29965 | ||
The number of similar proteins | 17 | ||
The number of binding states | 7 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1ALY (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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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
116_GLY | ARG |
VAR_017929
- |
LP/P | - | 0.4836 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
116_GLY | SER |
VAR_017930
- |
LP/P | - | 0.2102 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
116_GLY | CYS |
ClinVar chrX:135736589 rs2148552406 |
Likely pathogenic | - | 0.599 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
123_ALA | GLU |
VAR_007514
rs104894778 |
LP/P | - | 0.8963 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
123_ALA | GLU |
ClinVar chrX:135738536 rs104894778 |
Pathogenic | - | 0.8963 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
123_ALA | VAL |
8.3kJPN chrX:135738536 rs104894778 |
- | 0.0002 | 0.2806 | - | |
125_HIS | ARG |
VAR_017926
- |
LP/P | - | 0.7502 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
125_HIS | TYR |
ClinVar chrX:135738541 rs1603321148 |
Pathogenic/Likely pathogenic | - | 0.694 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
126_VAL | ALA |
VAR_007515
- |
LP/P | - | 0.6207 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
126_VAL | ASP |
VAR_017931
- |
LP/P | - | 0.9703 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
129_GLU | TER |
ClinVar chrX:135738553 rs1215852570 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
138_LEU | SER |
ClinVar chrX:135741201 - |
Likely pathogenic | - | 0.9619 | not provided [MedGen:C3661900] | |
140_TRP | CYS |
VAR_007517
- |
LP/P | - | 0.9961 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | GLY |
VAR_007518
rs104894777 |
LP/P | - | 0.9212 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | ARG |
VAR_007519
- |
LP/P | - | 0.9955 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | TER |
ClinVar chrX:135741207 rs104894775 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
140_TRP | GLY |
ClinVar chrX:135741206 rs104894777 |
Likely pathogenic | - | 0.9212 | Hyper-IgM syndrome type 1|not provided [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088|MedGen:C3661900] | |
140_TRP | ARG |
ClinVar chrX:135741206 rs104894777 |
Pathogenic | - | 0.9955 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
140_TRP | CYS |
ClinVar chrX:135741208 - |
Pathogenic | - | 0.9961 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
141_ALA | PRO |
ClinVar chrX:135741209 rs1387503550 |
Pathogenic | - | 0.8444 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
141_ALA | THR |
8.3kJPN chrX:135741209 rs1387503550 |
- | 0.0004 | 0.0894 | - | |
143_LYS | THR |
VAR_017932
- |
LP/P | - | 0.2596 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU |
VAR_007520
rs886039326 |
LP/P | - | 0.703 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU |
ClinVar chrX:135741219 rs886039326 |
Likely pathogenic | - | 0.703 | not provided|Hyper-IgM syndrome type 1 [MedGen:C3661900|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
144_GLY | TER |
ClinVar chrX:135741218 - |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
146_TYR | TER |
ClinVar chrX:135741226 - |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
147_THR | ASN |
VAR_017922
rs1057521127 |
LP/P | - | 0.2723 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
155_LEU | PRO |
VAR_007521
rs104894769 |
LP/P | - | 0.4622 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
155_LEU | PRO |
ClinVar chrX:135741252 rs104894769 |
Pathogenic | - | 0.4622 | Hyper-IgM syndrome type 1|not provided [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088|MedGen:C3661900] | |
155_LEU | GLN |
ClinVar chrX:135741252 rs104894769 |
Likely pathogenic | - | 0.2946 | not provided [MedGen:CN517202] | |
160_GLN | TER |
ClinVar chrX:135741266 rs767889061 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
163_VAL | ILE |
gnomAD chrX:135741275 rs199914973 |
- | 0.00013661 | 0.0794 | - | |
167_GLY | ARG |
ClinVar chrX:135741287 - |
Pathogenic | - | 0.9528 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
169_TYR | CYS |
ClinVar chrX:135741294 rs786205606 |
Likely pathogenic | - | 0.8689 | not provided [MedGen:C3661900] | |
170_TYR | CYS |
VAR_017923
rs756468554 |
LP/P | - | 0.7225 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
170_TYR | TER |
ClinVar chrX:135741298 - |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
170_TYR | CYS |
ClinVar chrX:135741297 - |
Likely pathogenic | - | 0.7225 | not provided [MedGen:CN517202] | |
172_TYR | HIS |
ClinVar chrX:135741302 rs2076127133 |
Likely pathogenic | - | 0.8067 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
172_TYR | CYS |
ClinVar chrX:135741303 - |
Likely pathogenic | - | 0.8096 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
173_ALA | ASP |
VAR_017933
- |
LP/P | - | 0.8992 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
174_GLN | ARG |
VAR_017927
- |
LP/P | - | 0.4477 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
174_GLN | TER |
ClinVar chrX:135741308 rs1603321772 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
176_THR | ILE |
VAR_017934
- |
LP/P | - | 0.7515 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
181_ARG | GLN |
gnomAD chrX:135741330 rs11575982 |
- | 0.00183427 | 0.0735 | - | |
186_GLN | TER |
ClinVar chrX:135741344 rs2076127276 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
195_LEU | PRO |
VAR_017935
- |
LP/P | - | 0.9332 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
199_GLY | SER |
8.3kJPN chrX:135741383 rs769728462 |
- | 0.0002 | 0.0691 | - | |
200_ARG | TER |
ClinVar chrX:135741386 rs2148553738 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
201_PHE | LEU |
gnomAD chrX:135741389 rs144827029 |
- | 0.000109186 | 0.29 | - | |
202_GLU | GLN |
8.3kJPN chrX:135741392 - |
- | 0.0001 | 0.1709 | - | |
206_LEU | PRO |
ClinVar chrX:135741405 - |
Likely pathogenic | - | 0.9752 | not provided [MedGen:C3661900] | |
208_ALA | ASP |
VAR_017936
- |
LP/P | - | 0.8616 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
211_THR | ASN |
VAR_007522
rs1569377829 |
LP/P | - | 0.1442 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
211_THR | ASN |
ClinVar chrX:135741420 rs1569377829 |
Likely pathogenic | - | 0.1442 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
218_CYS | TER |
ClinVar chrX:135741442 - |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
219_GLY | ARG |
VAR_007523
rs148594123 |
LB/B | - | 0.1015 | - | |
219_GLY | ARG |
gnomAD chrX:135741443 rs148594123 |
- | 0.0110849 | 0.1015 | - | |
220_GLN | TER |
ClinVar chrX:135741446 rs1085307733 |
Pathogenic | - | - | not provided|Hyper-IgM syndrome type 1 [MedGen:C3661900|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
221_GLN | TER |
ClinVar chrX:135741449 rs1603321834 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
224_HIS | TYR |
VAR_017937
- |
LP/P | - | 0.1463 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
225_LEU | SER |
ClinVar chrX:135741462 rs2148553773 |
Likely pathogenic | - | 0.7511 | not provided [MedGen:C3661900] | |
226_GLY | ALA |
VAR_017938
- |
LP/P | - | 0.4351 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL |
VAR_007524
rs104894768 |
LP/P | - | 0.8114 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL |
ClinVar chrX:135741468 rs104894768 |
Pathogenic | - | 0.8114 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
229_PHE | LEU |
ClinVar chrX:135741475 rs2148553785 |
Pathogenic | - | 0.9787 | not provided [MedGen:C3661900] | |
229_PHE | LEU |
ClinVar chrX:135741475 - |
Likely pathogenic | - | 0.9787 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
231_LEU | SER |
VAR_007526
- |
LP/P | - | 0.9814 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
232_GLN | TER |
ClinVar chrX:135741482 rs2076127875 |
Pathogenic | - | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
235_ALA | PRO |
VAR_007527
rs104894771 |
LP/P | - | 0.8072 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
235_ALA | PRO |
ClinVar chrX:135741491 rs104894771 |
Pathogenic | - | 0.8072 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
237_VAL | GLU |
VAR_017939
- |
LP/P | - | 0.9563 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET |
VAR_007528
rs193922136 |
LP/P | - | 0.7653 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET |
ClinVar chrX:135741549 rs193922136 |
Pathogenic | - | 0.7653 | Hyper-IgM syndrome type 1|Hyperimmunoglobulin M syndrome [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230] | |
254_THR | LYS |
ClinVar chrX:135741549 rs193922136 |
Likely pathogenic | - | 0.9708 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
256_PHE | SER |
ClinVar chrX:135741555 rs1057521128 |
Likely pathogenic | - | 0.9626 | not provided|Hyper-IgM syndrome type 1 [MedGen:C3661900|MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
257_GLY | SER |
VAR_017928
- |
LP/P | - | 0.8358 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
257_GLY | ASP |
VAR_017940
rs1477466218 |
LP/P | - | 0.9869 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
257_GLY | ASP |
ClinVar chrX:135741558 rs1477466218 |
Pathogenic | - | 0.9869 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
257_GLY | VAL |
ClinVar chrX:135741558 - |
Likely pathogenic | - | 0.9541 | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
258_LEU | SER |
VAR_017924
rs1569377884 |
LP/P | - | 0.9585 | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] |