Sequence information
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:
GESEFLDTWNRETHCHQHKY
C DPNLGLRVQQKGTSETDTIC
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 GESEFLDTWNRETHCHQHKYC DPNLGLRVQQKGTSETDTIC
QTGEFLDTWNAERHCHQHKYC DPNLGLHVEKEGTSETDTTC
Mouse DSGEFSAQWNREIRCHQHRHC EPNQGLRVKKEGTAESDTVC
Pig SSSEFLATWNREKHCHQHKYC DPNLGLQVQREGTSKTDTTC
Bovine GKGEFLSTWNREKYCHEHRYC NPNLGLRIQSEGTLNTDTTC
Horse GAGEFLDTWNRESRCHQHKYC DPNLGLQVQGTGTSTTDATC
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
Chain
21 – 277
Tumor necrosis factor receptor superfamily member 5
Topological domain
21 – 193
Extracellular
Repeat
61 – 103
TNFR-Cys 2
Disulfide bond
83 – 103
Literature citations
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;
Disclaimer:
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.