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 | 6BRB |
3 | P29965 P29965 |
4 | P29965 P29965 P25942 |
5 | P29965 P29965 1I9R 1I9R |
6 | P29965 P29965 P25942 P25942 |
7 | P29965 P29965 7SGM 7SGM 7SGM |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
116_GLY | ARG | VAR_017929 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
116_GLY | SER | VAR_017930 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
116_GLY | CYS |
ClinVar chrX:135736589 |
rs2148552406
|
Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
123_ALA | GLU | VAR_007514 |
rs104894778
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
123_ALA | GLU |
ClinVar chrX:135738536 |
rs104894778
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
123_ALA | VAL |
8.3kJPN chrX:135738536 |
rs104894778
|
- | 0.0002 | - | |
125_HIS | ARG | VAR_017926 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
125_HIS | TYR |
ClinVar chrX:135738541 |
rs1603321148
|
Pathogenic/Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
126_VAL | ALA | VAR_007515 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
126_VAL | ASP | VAR_017931 |
-
|
LP/P | - | 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 | - | not provided [MedGen:C3661900] | |
140_TRP | CYS | VAR_007517 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | GLY | VAR_007518 |
rs104894777
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
140_TRP | ARG | VAR_007519 |
-
|
LP/P | - | 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 | - | 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 | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
140_TRP | CYS |
ClinVar chrX:135741208 |
-
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
141_ALA | PRO |
ClinVar chrX:135741209 |
rs1387503550
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
141_ALA | THR |
8.3kJPN chrX:135741209 |
rs1387503550
|
- | 0.0004 | - | |
143_LYS | THR | VAR_017932 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU | VAR_007520 |
rs886039326
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
144_GLY | GLU |
ClinVar chrX:135741219 |
rs886039326
|
Likely pathogenic | - | 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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
155_LEU | PRO | VAR_007521 |
rs104894769
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
155_LEU | PRO |
ClinVar chrX:135741252 |
rs104894769
|
Pathogenic | - | 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 | - | 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 | - | |
167_GLY | ARG |
ClinVar chrX:135741287 |
-
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
169_TYR | CYS |
ClinVar chrX:135741294 |
rs786205606
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
170_TYR | CYS | VAR_017923 |
rs756468554
|
LP/P | - | 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 | - | not provided [MedGen:CN517202] | |
172_TYR | HIS |
ClinVar chrX:135741302 |
rs2076127133
|
Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
172_TYR | CYS |
ClinVar chrX:135741303 |
-
|
Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
173_ALA | ASP | VAR_017933 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
174_GLN | ARG | VAR_017927 |
-
|
LP/P | - | 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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
181_ARG | GLN |
gnomAD chrX:135741330 |
rs11575982
|
- | 0.00183427 | - | |
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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
199_GLY | SER |
8.3kJPN chrX:135741383 |
rs769728462
|
- | 0.0002 | - | |
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 | - | |
202_GLU | GLN |
8.3kJPN chrX:135741392 |
-
|
- | 0.0001 | - | |
206_LEU | PRO |
ClinVar chrX:135741405 |
-
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
208_ALA | ASP | VAR_017936 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
211_THR | ASN | VAR_007522 |
rs1569377829
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
211_THR | ASN |
ClinVar chrX:135741420 |
rs1569377829
|
Likely pathogenic | - | 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 | - | - | |
219_GLY | ARG |
gnomAD chrX:135741443 |
rs148594123
|
- | 0.0110849 | - | |
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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
225_LEU | SER |
ClinVar chrX:135741462 |
rs2148553773
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
226_GLY | ALA | VAR_017938 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL | VAR_007524 |
rs104894768
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
227_GLY | VAL |
ClinVar chrX:135741468 |
rs104894768
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
229_PHE | LEU |
ClinVar chrX:135741475 |
rs2148553785
|
Pathogenic | - | not provided [MedGen:C3661900] | |
229_PHE | LEU |
ClinVar chrX:135741475 |
-
|
Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
231_LEU | SER | VAR_007526 |
-
|
LP/P | - | 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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
235_ALA | PRO |
ClinVar chrX:135741491 |
rs104894771
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
237_VAL | GLU | VAR_017939 |
-
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET | VAR_007528 |
rs193922136
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
254_THR | MET |
ClinVar chrX:135741549 |
rs193922136
|
Pathogenic | - | 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 | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
256_PHE | SER |
ClinVar chrX:135741555 |
rs1057521128
|
Likely pathogenic | - | 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 | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
257_GLY | ASP | VAR_017940 |
rs1477466218
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] | |
257_GLY | ASP |
ClinVar chrX:135741558 |
rs1477466218
|
Pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
257_GLY | VAL |
ClinVar chrX:135741558 |
-
|
Likely pathogenic | - | Hyper-IgM syndrome type 1 [MONDO:MONDO:0010626,MedGen:C0398689,OMIM:308230,Orphanet:101088] | |
258_LEU | SER | VAR_017924 |
rs1569377884
|
LP/P | - | Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230] |