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

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer

#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   GDQNPQIAAH   VISEASSKTT   SVLQWAEKGY   YTMSNNLVTL   ENGKQLTVKR   50
51   QGLYYIYAQV   TFCSNREASS   QAPFIASLCL   KSPGRFERIL   LRAANTHSSA   100
101   KPCGQQSIHL   GGVFELQPGA   SVFVNVTDPS   QVSHGTGFTS   FGLLKL   150

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
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 4.7kJPN
chrX:135738536
rs104894778
- 0.0003 -
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 4.7kJPN
chrX:135741209
rs1387503550
- 0.0003 -
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]
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]
195_LEU PRO VAR_017935 -
Disease - Immunodeficiency with hyper-IgM, type 1 (HIGM1) [MIM:308230]
199_GLY SER 4.7kJPN
chrX:135741383
rs769728462
- 0.0001 -
202_GLU GLN 4.7kJPN
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 - -
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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.