Sequence information
Variant position: 79 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:
CTKCHKGTYLYNDCPGPGQD
T DCRECESGSFTASENHLRHC
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 CTKCHKGTYLYNDCPGPGQDT DCRECESGSFTASENHLRHC
Mouse CTKCHKGTYLVSDCPSPGRDT VCRECEKGTFTASQNYLRQC
Rat CTKCHKGTYLVSDCPSPGQET VCEVCDKGTFTASQNHVRQC
Pig CTKCHKGTYLHNDCLGPGLDT DCRECDNGTFTASENHLTQC
Bovine CTKCHKGTYLYNDCPGPGRDT DCRVCAPGTYTALENHLRRC
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
30 – 455
Tumor necrosis factor receptor superfamily member 1A, membrane form
Chain
41 – 201
Tumor necrosis factor-binding protein 1
Topological domain
30 – 211
Extracellular
Repeat
43 – 82
TNFR-Cys 1
Disulfide bond
62 – 81
Alternative sequence
1 – 232
Missing. In isoform 3.
Alternative sequence
1 – 108
Missing. In isoform 2.
Literature citations
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.;
Cell 97:133-144(1999)
Cited for: VARIANTS FPF ARG-59; TYR-62; MET-79; PHE-81; ARG-117 AND TYR-117;
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.