Variant position: 576 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 825 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 RNVLQHGAAAAPVSAPTS-GY QEFVHAVEQGGTQASAVVGLG
Mouse MSVLQHGAAAGSTPAPAG-GY QEFVQAVKQGAAQDPGVPGV
Rat MSVLQHGTA-GSTPAPTS-GY QEFVQAVKQGASQDAGVPGV
Pig QSVLQRRAAPAPASGPSSSGY REFVHAVEQG-TQDRRAAGS
Horse QSVLQQGAAPAPASAPTG-GY REFAQVVKQGG----GAAGS
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
26 – 825 Interleukin-4 receptor subunit alpha
257 – 825 Cytoplasmic
558 – 657 Required for IL4-induced gene expression
575 – 575 Phosphotyrosine
228 – 825 Missing. In isoform 2.
575 – 575 Y -> F. Loss of CD23 gene induction; when associated with F-603 and F-631.
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-75; ALA-400; ARG-431; LEU-436; PRO-503; ARG-576; ILE-579; SER-675 AND ALA-752;
Identification of a novel single-nucleotide polymorphism (Val554Ile) and definition of eight common alleles for human IL4RA exon 11.
Lozano F.; Places L.; Vila J.-M.; Padilla O.; Arman M.; Gimferrer I.; Suarez B.; Lopez de la Iglesia A.; Miserachs N.; Vives J.;
Tissue Antigens 57:216-220(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 301-825 (ISOFORM 1); VARIANTS ALA-400; ARG-431; LEU-436; PRO-503; ARG-576 AND ILE-579;
The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor.
Hershey G.K.K.; Friedrich M.F.; Esswein L.A.; Thomas M.L.; Chatila T.A.;
N. Engl. J. Med. 337:1720-1725(1997)
Cited for: VARIANT ARG-576;
The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction.
Kruse S.; Japha T.; Tedner M.; Sparholt S.H.; Forster J.; Kuehr J.; Deichmann K.A.;
Cited for: VARIANTS PRO-503 AND ARG-576;
Effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.
Wang H.Y.; Shelburne C.P.; Zamorano J.; Kelly A.E.; Ryan J.J.; Keegan A.D.;
J. Immunol. 162:4385-4389(1999)
Cited for: CHARACTERIZATION OF VARIANT ARG-576; MUTAGENESIS OF TYR-575;
Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan.
Oiso N.; Fukai K.; Ishii M.;
Br. J. Dermatol. 142:1003-1006(2000)
Cited for: VARIANT ARG-576;
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