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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29965: Variant p.Val237Glu

CD40 ligand
Gene: CD40LG
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Variant information Variant position: help 237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Valine (V) to Glutamate (E) at position 237 (V237E, p.Val237Glu). 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: help Change from medium size and hydrophobic (V) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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).
More information can be found on the following page
Variant description: help In HIGM1. Any additional useful information about the variant.


Sequence information Variant position: help 237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 261 The length of the canonical sequence.
Location on the sequence: help PCGQQSIHLGGVFELQPGAS V FVNVTDPSQVSHGTGFTSFG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFG

                              PCGQQSIHLGGVFELHPGASVFVNVTDPSQVSHGTGFTSFG

Rhesus macaque                PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFG

Mouse                         LCEQQSVHLGGVFELQAGASVFVNVTEASQVIHRVGFSSFG

Rat                           LCEQQSIHLGGVFELQAGASVFVNVTEASQVIHGIGFSSIG

Pig                           PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGTGFTSFG

Bovine                        PCGQQSIHLGGVFELQSGASVFVNVTDPSQVSHGTGFTSFG

Cat                           PCGQQSIHLGGVFELHPGASVFVNVTDPSQVSHGTGFTSFG

Chicken                       LCELQSIREGGVFELRQGDMVFVNVTDSTAVNVNPGNTYFG
Sequence annotation in neighborhood: help 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.
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 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.
Mutagenesis 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.
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 236 – 242



Literature citations
Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.
Saiki O.; Tanaka T.; Wada Y.; Uda H.; Inoue A.; Katada Y.; Izeki M.; Iwata M.; Nunoi H.; Matsuda I.;
J. Clin. Invest. 95:510-514(1995)
Cited for: VARIANT HIGM1 GLU-237;
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.