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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29965: Variant p.Gln174Arg

CD40 ligand
Gene: CD40LG
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Variant information Variant position: help 174 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 Glutamine (Q) to Arginine (R) at position 174 (Q174R, p.Gln174Arg). 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 polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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; decreases ITGA5:ITGB1 and ITGAV:ITGB3 binding of the soluble form; decreases activation of NF-kappa-B signaling. Any additional useful information about the variant.


Sequence information Variant position: help 174 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 TLENGKQLTVKRQGLYYIYA Q VTFCSNREASSQAPFIASLC 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                         TLENGKQLTVKRQGLYYIYAQVTFCSNREASSQAPFIASLC

                              SLENGKQLAVKRQGLYYVYAQVTFCSNRAASSQAPFVASLC

Rhesus macaque                TLENGKQLTVKRQGLYYIYAQVTFCSNREASSQAPFIASLC

Mouse                         MLENGKQLTVKREGLYYVYTQVTFCSNREPSSQRPFIVGLW

Rat                           VLENGRQLTVKREGLYYVYTQVTFCSNREPLSQRPFIVSLW

Pig                           TLENGRQLAVKRQGIYYIYAQVTFCSNRDAAGQAPFIASLC

Bovine                        TLENGKQLAVKRQGFYYIYTQVTFCSNRETLSQAPFIASLC

Cat                           TLENGKQLAVKRQGLYYIYAQVTFCSNREASSQAPFIASLC

Chicken                       SYHEGK-LKVEKAGLYYIYSQVSFCT--KAAASAPFTLYIY
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
Mutagenesis 170 – 170 Y -> E. Decreases ITGA5:ITGB1 binding, B-cell activation, activation of NF-kappa-B signaling, and anti-apoptotic signaling; in soluble form. Slightly decreases CD40 binding; in soluble form.
Beta strand 167 – 179



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; 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;
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.