Variant position: 116 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 KDIMLNKEETKKENSFEMQK GDQNPQ----------------IAAHVISEASSKTTS
Rhesus macaque KDIMLNKEEKKKENSFEMQK GDQNPQ---------------
Mouse KDITLNKEEKK-ENSFEMQR GDEDPQ---------------
Rat KDISLNKEEKK-EKSFEMQR GDEDPQ---------------
Pig KGIMQSKEVKKKEKSFEMHK GDQDPQ---------------
Bovine KDIMQNKEVKKKEKNFEMHK GDQEPQ---------------
Cat KEIMLNKETKK-EKNVAMQK GDQDPR---------------
Chicken KDRTASEELPK----FEMHR GHEHPHLKSRNETSVAEEKRQ
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
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.;
Cited for: VARIANTS HIGM1 SER-116; ASN-147; CYS-170; VAL-227; SER-231; PRO-235; MET-254 AND SER-258;
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
Ouadani H.; Ben-Mustapha I.; Ben-ali M.; Ben-khemis L.; Largueche B.; Boussoffara R.; Maalej S.; Fetni I.; Hassayoun S.; Mahfoudh A.; Mellouli F.; Yalaoui S.; Masmoudi H.; Bejaoui M.; Barbouche M.R.;
Cited for: VARIANT HIGM1 SER-116;
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