Variant position: 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 277 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 GESEFLDTWNRETHCHQHKY CDPNLGLRVQQKGTSETDTIC
Mouse DSGEFSAQWNREIRCHQHRH CEPNQGLRVKKEGTAESDTVC
Pig SSSEFLATWNREKHCHQHKY CDPNLGLQVQREGTSKTDTTC
Bovine GKGEFLSTWNREKYCHEHRY CNPNLGLRIQSEGTLNTDTTC
Horse GAGEFLDTWNRESRCHQHKY CDPNLGLQVQGTGTSTTDATC
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
21 – 277 Tumor necrosis factor receptor superfamily member 5
21 – 193 Extracellular
61 – 103 TNFR-Cys 2
83 – 103
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Ferrari S.; Giliani S.; Insalaco A.; Al-Ghonaium A.; Soresina A.R.; Loubser M.; Avanzini M.A.; Marconi M.; Badolato R.; Ugazio A.G.; Levy Y.; Catalan N.; Durandy A.; Tbakhi A.; Notarangelo L.D.; Plebani A.;
Proc. Natl. Acad. Sci. U.S.A. 98:12614-12619(2001)
Cited for: VARIANT HIGM3 ARG-83;
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