Variant position: 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 455 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 KRDSVCPQGKYIHPQNNSIC CTKCHKGTYLYNDCPGPGQDT
Mouse KRDSLCPQGKYVHSKNNSIC CTKCHKGTYLVSDCPSPGRDT
Rat KRDNLCPQGKYAHPKNNSIC CTKCHKGTYLVSDCPSPGQET
Pig KRESLCPQGKYSHPQNRSIC CTKCHKGTYLHNDCLGPGLDT
Bovine KRESPCPQGKYNHPQNSTIC CTKCHKGTYLYNDCPGPGRDT
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
30 – 455 Tumor necrosis factor receptor superfamily member 1A, membrane form
41 – 201 Tumor necrosis factor-binding protein 1
30 – 211 Extracellular
43 – 82 TNFR-Cys 1
54 – 54 N-linked (GlcNAc...) asparagine
59 – 72
1 – 232 Missing. In isoform 3.
1 – 108 Missing. In isoform 2.
58 – 60
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
McDermott M.F.; Aksentijevich I.; Galon J.; McDermott E.M.; Ogunkolade B.W.; Centola M.; Mansfield E.; Gadina M.; Karenko L.; Pettersson T.; McCarthy J.; Frucht D.M.; Aringer M.; Torosyan Y.; Teppo A.-M.; Wilson M.; Karaarslan H.M.; Wan Y.; Todd I.; Wood G.; Schlimgen R.; Kumarajeewa T.R.; Cooper S.M.; Vella J.P.; Amos C.I.; Mulley J.; Quane K.A.; Molloy M.G.; Rnaki A.; Powell R.J.; Hitman G.A.; O'Shea J.; Kastner D.L.;
Cited for: VARIANTS FPF ARG-59; TYR-62; MET-79; PHE-81; ARG-117 AND TYR-117;
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.