Variant position: 211 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 ASLCLKSPGRFERILLRAAN THSSAK-PCGQQSIHLGGVFEL
Rhesus macaque ASLCLKSPGRFERILLRAAN THSSAK-PCGQQSIHLGGVFE
Mouse VGLWLKPSSGSERILLKAAN THSSSQ-LCEQQSVHLGGVFE
Rat VSLWLKPSSGSERILLRAAN THSSSK-LCEQQSIHLGGVFE
Pig ASLCLRSPSGSERILLRAAN THSSSK-PCGQQSIHLGGVFE
Bovine ASLCLKSPSGSERILLRAAN THSSSK-PCGQQSIHLGGVFE
Cat ASLCLHSPSGSERVLLRAAN ARSSSK-PCGQQSIHLGGVFE
Chicken LYIYLYLPMEEDRLLMKGLD THSTSTALCELQSIREGGVFE
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
178 – 218
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.
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
Allen R.C.; Armitage R.J.; Conley M.E.; Rosenblatt H.; Jenkins N.A.; Copeland N.G.; Bedell M.A.; Edelhoff S.; Disteche C.M.; Simoneaux D.K.; Fanslow W.C.; Belmont J.W.; Spriggs M.K.;
Cited for: VARIANTS HIGM1 PRO-155; ASN-211 AND VAL-227;
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