Variant position: 257 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:
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 VFVNVTDPSQVSHGTGFTSF GLLKL
Rhesus macaque VFVNVTDPSQVSHGTGFTSF GLLKL
Mouse VFVNVTEASQVIHRVGFSSF GLLKL
Rat VFVNVTEASQVIHGIGFSSI GLLKL
Pig VFVNVTDPSQVSHGTGFTSF GLLKL
Bovine VFVNVTDPSQVSHGTGFTSF GLLKL
Cat VFVNVTDPSQVSHGTGFTSF GLLKL
Chicken VFVNVTDSTAVNVNPGNTYF GMFKL
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
1 – 261 CD40 ligand, membrane form
113 – 261 CD40 ligand, soluble form
47 – 261 Extracellular
240 – 240 N-linked (GlcNAc...) (complex) asparagine; alternate
240 – 240 N-linked (GlcNAc...) (high mannose) asparagine; alternate
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.
253 – 260
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
Katz F.; Hinshelwood S.; Rutland P.; Jones A.; Kinnon C.; Morgan G.;
Hum. Mutat. 8:223-228(1996)
Cited for: VARIANTS HIGM1 ARG-38; ARG-125; ARG-174 AND SER-257;
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