UniProtKB/SwissProt variant VAR

Variant information

Variant position:

115

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Serine (S) to Glycine (G) at position 115 (S115G, p.Ser115Gly).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from small size and polar (S) to glycine (G)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Involvement in disease:

Familial hibernian fever (FHF) [MIM:142680]: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. {ECO:0000269|PubMed:10199409, ECO:0000269|PubMed:10902757, ECO:0000269|PubMed:11443543, ECO:0000269|PubMed:13130484, ECO:0000269|PubMed:14610673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In FHF.

Any additional useful information about the variant.

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                         HLRHCLSCSKCRKEMGQVEISSCTVDRDTVCGCRKNQYRHY

Mouse                         YLRQCLSCKTCRKEMSQVEISPCQADKDTVCGCKENQFQRY

Rat                           HVRQCLSCKTCRKEMFQVEISPCKADMDTVCGCKKNQFQRY

Pig                           HLTQCLSCSKCRSEMSQVEISPCTVDRDTVCGCRKNQYRKY

Bovine                        HLRRCLSCSRCRDEMFQVEISPCVVDRDTVCGCRKNQYREY

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 FHF GLN-51; SER-59; GLY-62; LEU-75; GLY-115 AND GLN-121;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19438: Variant p.Ser115Gly