UniProtKB/Swiss-Prot P29965 : Variant p.Leu258Ser
CD40 ligand
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Variant information
Variant position:
258
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change:
258 (L258S, p.Leu258Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
258
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
261
The length of the canonical sequence.
Location on the sequence:
L LKL
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:
The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FVNVTDPSQVSHGTGFTSFGL LKL
FVNVTDPSQVSHGTGFTSFGL LKL
Rhesus macaque FVNVTDPSQVSHGTGFTSFGL LKL
Mouse FVNVTEASQVIHRVGFSSFGL LKL
Rat FVNVTEASQVIHGIGFSSIGL LKL
Pig FVNVTDPSQVSHGTGFTSFGL LKL
Bovine FVNVTDPSQVSHGTGFTSFGL LKL
Cat FVNVTDPSQVSHGTGFTSFGL LKL
Chicken FVNVTDSTAVNVNPGNTYFGM FKL
Sequence annotation in neighborhood:
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
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.
