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UniProtKB/Swiss-Prot P29965: Variant p.Leu231Ser

CD40 ligand
Gene: CD40LG
Variant information

Variant position:  231
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Leucine (L) to Serine (S) at position 231 (L231S, p.Leu231Ser).
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:  Change from medium size and hydrophobic (L) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In HIGM1.
Any additional useful information about the variant.



Sequence information

Variant position:  231
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:   THSSAKPCGQQSIHLGGVFE  L QPGASVFVNVTDPSQVSHGT
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                         THSSAK-PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHGT

                              SRGSSK-PCGQQSIHLGGVFELHPGASVFVNVTDPSQVSHG

Rhesus macaque                THSSAK-PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHG

Mouse                         THSSSQ-LCEQQSVHLGGVFELQAGASVFVNVTEASQVIHR

Rat                           THSSSK-LCEQQSIHLGGVFELQAGASVFVNVTEASQVIHG

Pig                           THSSSK-PCGQQSIHLGGVFELQPGASVFVNVTDPSQVSHG

Bovine                        THSSSK-PCGQQSIHLGGVFELQSGASVFVNVTDPSQVSHG

Cat                           ARSSSK-PCGQQSIHLGGVFELHPGASVFVNVTDPSQVSHG

Chicken                       THSTSTALCELQSIREGGVFELRQGDMVFVNVTDSTAVNVN

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.

TypePositionsDescription
Chain 1 – 261 CD40 ligand, membrane form
Chain 113 – 261 CD40 ligand, soluble form
Topological domain 47 – 261 Extracellular
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.
Beta strand 219 – 231


Literature citations

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S.; Shimadzu M.; Toru H.; Seyama K.; Nunoi H.; Neubauer M.; Yata J.; Och H.D.;
Hum. Genet. 99:624-627(1997)
Cited for: VARIANTS HIGM1 ARG-36; CYS-140; GLY-227 DEL; SER-231 AND MET-254;

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.