Variant position: 174 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 TLENGKQLTVKRQGLYYIYA QVTFCSNREASSQAPFIASLC
Rhesus macaque TLENGKQLTVKRQGLYYIYA QVTFCSNREASSQAPFIASLC
Mouse MLENGKQLTVKREGLYYVYT QVTFCSNREPSSQRPFIVGLW
Rat VLENGRQLTVKREGLYYVYT QVTFCSNREPLSQRPFIVSLW
Pig TLENGRQLAVKRQGIYYIYA QVTFCSNRDAAGQAPFIASLC
Bovine TLENGKQLAVKRQGFYYIYT QVTFCSNRETLSQAPFIASLC
Cat TLENGKQLAVKRQGLYYIYA QVTFCSNREASSQAPFIASLC
Chicken SYHEGK-LKVEKAGLYYIYS QVSFCT--KAAASAPFTLYIY
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
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.
167 – 179
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;
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.