Sequence information
Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 293 The length of the canonical sequence.
Location on the sequence:
RDCISCASICGQHPKQCAYF
C ENKLRSPVNLPPELRRQRSG
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 RDCISCASICGQHPKQCAYFC ENKLRSPVNLPPELRRQRSG
Mouse GACVSCDSTCTQHPQQCAHFC EKRPRSQANLQPELGRPQAG
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
1 – 293
Tumor necrosis factor receptor superfamily member 13B
Topological domain
1 – 165
Extracellular
Repeat
70 – 104
TNFR-Cys 2
Disulfide bond
93 – 104
Helix
101 – 104
Literature citations
TACI is mutant in common variable immunodeficiency and IgA deficiency.
Castigli E.; Wilson S.A.; Garibyan L.; Rachid R.; Bonilla F.; Schneider L.; Geha R.S.;
Nat. Genet. 37:829-834(2005)
Cited for: VARIANT IGAD2 ARG-104; VARIANTS CVID2 ARG-104; GLY-181 AND HIS-202;
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.