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UniProtKB/Swiss-Prot P29965: Variant p.Leu258Ser

CD40 ligand
Gene: CD40LG
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Variant information Variant position: help 258
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Serine (S) at position 258 (L258S, p.Leu258Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In HIGM1; decreases ITGA5:ITGB1 and ITGAV:ITGB3 binding of the soluble form; decreases activation of NF-kappa-B signaling.
Other resources: help


Sequence information Variant position: help 258
Protein sequence length: help 261
Location on the sequence: help FVNVTDPSQVSHGTGFTSFG L LKL
Residue conservation: help
Human                         FVNVTDPSQVSHGTGFTSFGLLKL

                              FVNVTDPSQVSHGTGFTSFGLLKL

Rhesus macaque                FVNVTDPSQVSHGTGFTSFGLLKL

Mouse                         FVNVTEASQVIHRVGFSSFGLLKL

Rat                           FVNVTEASQVIHGIGFSSIGLLKL

Pig                           FVNVTDPSQVSHGTGFTSFGLLKL

Bovine                        FVNVTDPSQVSHGTGFTSFGLLKL

Cat                           FVNVTDPSQVSHGTGFTSFGLLKL

Chicken                       FVNVTDSTAVNVNPGNTYFGMFKL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 261 CD40 ligand, membrane form
Chain 113 – 261 CD40 ligand, soluble form
Topological domain 47 – 261 Extracellular
Domain 122 – 261 THD
Glycosylation 240 – 240 N-linked (GlcNAc...) (complex) asparagine; alternate
Glycosylation 240 – 240 N-linked (GlcNAc...) (high mannose) asparagine; alternate
Mutagenesis 252 – 252 G -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; in soluble form. No effect on CD40 binding; in soluble form.
Beta strand 253 – 260



Literature citations
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
Takada Y.K.; Yu J.; Shimoda M.; Takada Y.;
J. Immunol. 203:1383-1391(2019)
Cited for: FUNCTION AS CD40 AND INTEGRIN LIGAND; CHARACTERIZATION OF VARIANTS HIGM1 CYS-170; ARG-174; ILE-176; ASP-208; TYR-224; ALA-226; VAL-227 AND SER-258; MUTAGENESIS OF TYR-170; HIS-224; GLY-226 AND GLY-252; Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
Seyama K.; Nonoyama S.; Gangsaas I.; Hollenbaugh D.; Pabst H.F.; Aruffo A.; Ochs H.D.;
Blood 92:2421-2434(1998)
Cited for: VARIANTS HIGM1 SER-116; ASN-147; CYS-170; VAL-227; SER-231; PRO-235; MET-254 AND SER-258;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.