Sequence information
Variant position: 115 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:
HLRHCLSCSKCRKEMGQVEI
S SCTVDRDTVCGCRKNQYRHY
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 HLRHCLSCSKCRKEMGQVEIS SCTVDRDTVCGCRKNQYRHY
Mouse YLRQCLSCKTCRKEMSQVEIS PCQADKDTVCGCKENQFQRY
Rat HVRQCLSCKTCRKEMFQVEIS PCKADMDTVCGCKKNQFQRY
Pig HLTQCLSCSKCRSEMSQVEIS PCTVDRDTVCGCRKNQYRKY
Bovine HLRRCLSCSRCRDEMFQVEIS PCVVDRDTVCGCRKNQYREY
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
83 – 125
TNFR-Cys 2
Disulfide bond
102 – 117
Disulfide bond
105 – 125
Alternative sequence
1 – 232
Missing. In isoform 3.
Beta strand
112 – 115
Literature citations
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Aksentijevich I.; Galon J.; Soares M.; Mansfield E.; Hull K.; Oh H.-H.; Goldbach-Mansky R.; Dean J.; Athreya B.; Reginato A.J.; Henrickson M.; Pons-Estel B.; O'Shea J.J.; Kastner D.L.;
Am. J. Hum. Genet. 69:301-314(2001)
Cited for: VARIANTS FPF GLN-51; SER-59; GLY-62; LEU-75; GLY-115 AND GLN-121;
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.