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UniProtKB/Swiss-Prot P48551: Variant p.Phe10Val

Interferon alpha/beta receptor 2
Gene: IFNAR2
Variant information

Variant position:  10
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 Valine (V) at position 10 (F10V, p.Phe10Val).
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 medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  10
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:   MLLSQNAFI  F RSLNLVLMVYISLVFGISYD
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                         MLLSQNAFIFRSLNLVLMVYISLVFGISYD

Mouse                         MRSRCTVSAVGLLSLCLVVSASLETITPSA

Bovine                        MLLSQNVSAIGPLNLYPMVHISLVFGISYV

Sheep                         MLLSQNVSAIGPLNLYPMVHISLVFGISYV

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.

TypePositionsDescription
Signal peptide 1 – 26


Literature citations

The human interferon alpha/beta receptor: characterization and molecular cloning.
Novick D.; Cohen B.; Rubinstein M.;
Cell 77:391-400(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); PARTIAL PROTEIN SEQUENCE; GLYCOSYLATION AT ASN-87 AND ASN-192; FUNCTION; SUBUNIT; INTERACTION WITH JAK1; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT VAL-10;

Soluble and membrane-anchored forms of the human IFN-alpha/beta receptor.
Novick D.; Cohen B.; Tal N.; Rubinstein M.;
J. Leukoc. Biol. 57:712-718(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); PARTIAL PROTEIN SEQUENCE; FUNCTION; INTERACTION WITH JAK1; ALTERNATIVE SPLICING; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; PHOSPHORYLATION; VARIANT VAL-10;

Submission
Cohen B.; Kim S.H.; Novick D.; Rubinstein M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-10;

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.