UniProtKB/Swiss-Prot P48551: Variant p.Phe8Ser

Interferon alpha/beta receptor 2
Gene: IFNAR2
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Variant information Variant position:

8 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Phenylalanine (F) to Serine (S) at position 8 (F8S, p.Phe8Ser). 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 large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

Genetic variations in IFNAR2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424]. Additional information on the polymorphism described.
Variant description:

Risk factor for HVB infection; lower cell surface levels; lower induction of MHC class 1 expression by INF-alpha. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2229207 [ dbSNP | Ensembl ]

Sequence information Variant position:

8 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

515 The length of the canonical sequence.
Location on the sequence:

MLLSQNA F IFRSLNLVLMVYISLVFGIS 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                         MLLSQNAFIFRSLNLVLMVYISLVFGIS

Mouse                         MRSRCTVSAVGLLSLCLVVSASLETITP

Bovine                        MLLSQNVSAIGPLNLYPMVHISLVFGIS

Sheep                         MLLSQNVSAIGPLNLYPMVHISLVFGIS

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
Signal peptide	1 – 26

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-8; VAL-10 AND VAL-196; Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.
Frodsham A.J.; Zhang L.; Dumpis U.; Taib N.A.M.; Best S.; Durham A.; Hennig B.J.W.; Hellier S.; Knapp S.; Wright M.; Chiaramonte M.; Bell J.I.; Graves M.; Whittle H.C.; Thomas H.C.; Thursz M.R.; Hill A.V.S.;
Proc. Natl. Acad. Sci. U.S.A. 103:9148-9153(2006)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO HBV INFECTION; VARIANTS SER-8 AND VAL-10; CHARACTERIZATION OF VARIANT SER-8;

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.