Variant position: 235 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 AK-PCGQQSIHLGGVFELQPG ASVFVNVTDPSQVSHGTGFTS
Rhesus macaque AK-PCGQQSIHLGGVFELQPG ASVFVNVTDPSQVSHGTGFT
Mouse SQ-LCEQQSVHLGGVFELQAG ASVFVNVTEASQVIHRVGFS
Rat SK-LCEQQSIHLGGVFELQAG ASVFVNVTEASQVIHGIGFS
Pig SK-PCGQQSIHLGGVFELQPG ASVFVNVTDPSQVSHGTGFT
Bovine SK-PCGQQSIHLGGVFELQSG ASVFVNVTDPSQVSHGTGFT
Cat SK-PCGQQSIHLGGVFELHPG ASVFVNVTDPSQVSHGTGFT
Chicken STALCELQSIREGGVFELRQG DMVFVNVTDSTAVNVNPGNT
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
224 – 224 H -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-226 in soluble form. No effect on CD40 binding; when associated with E-226 in soluble form.
226 – 226 G -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; when associated with E-224 in soluble form. No effect on CD40 binding; when associated with E-224 in soluble form.
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.
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.
Aruffo A.; Farrington M.; Hollenbaugh D.; Li X.; Milatovich A.; Nonoyama S.; Bajorath J.; Grosmaire L.S.; Stenkamp R.; Neubauer M.; Roberts R.L.; Noelle R.J.; Ledbetter J.A.; Francke U.; Ochs H.D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS HIGM1 128-ARG-GLY-129 AND PRO-235;
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.;
Cited for: VARIANTS HIGM1 SER-116; ASN-147; CYS-170; VAL-227; SER-231; PRO-235; MET-254 AND SER-258;
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.