Variant position: 144 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 AHVISEASSKTTSVLQWAEK GYYTMSNNLVTLENGKQLTVK
Rhesus macaque AHVISEASSKTTSVLQWAEK GYYTMSNNLVTLENGKQLTVK
Mouse AHVVSEANSNAASVLQWAKK GYYTMKSNLVMLENGKQLTVK
Rat AHVVSEANSNAASVLQWAKK GYYTMKSNLVVLENGRQLTVK
Pig AHVISEASSKTASVLQWAPK GYYTLSTNLVTLENGRQLAVK
Bovine AHVISEASSKTTSVLQWAPK GYYTLSNNLVTLENGKQLAVK
Cat AHVISEASSSTASVLQWAPK GYYTISSNLVTLENGKQLAVK
Chicken THLAGVKSNTTVRVLKWMTT S-YAPTSSLISYHEGK-LKVE
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
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
Macchi P.; Villa A.; Strina D.; Sacco M.G.; Morali F.; Brugnoni D.; Giliani S.; Mantuano E.; Fasth A.; Andersson B.; Zegers B.J.M.; Cavagni G.; Reznick I.; Levy J.; Zan-Bar I.; Porat Y.; Airo P.; Plebani A.; Vezzoni P.; Notarangelo L.D.;
Am. J. Hum. Genet. 56:898-906(1995)
Cited for: VARIANTS HIGM1 ALA-126; ARG-140 AND GLU-144;
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