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:
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 MLLSQNAFI FRSLNLVLMVYISLVFGISYD
Mouse MRSRCTVSA VGLLSLCLVVSASLETITPSA
Bovine MLLSQNVSA IGPLNLYPMVHISLVFGISYV
Sheep MLLSQNVSA IGPLNLYPMVHISLVFGISYV
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
1 – 26
The human interferon alpha/beta receptor: characterization and molecular cloning.
Novick D.; Cohen B.; Rubinstein M.;
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;
Cohen B.; Kim S.H.; Novick D.; Rubinstein M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-10;
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;
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.