Variant position: 503 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 TCTETPLVIAGNPAYRSFSN SLSQSPCPRELGPDPLLARHL
Mouse ACTQVPLVLADNPAYRSFSD CCSPAPNPGELAPEQQQADHL
Rat ACTQVPLVISDNPAYRSFSD FSSPAPNPGELASEQKQAGHL
Pig AFPELPAVIADNPAYRSFST FLSQSSDPGELDSDPELAEAL
Horse AFTEAPAVVADNPAYRSFSN SLSQPRGPGELDSDPQLAEHL
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
437 – 557 Required for IRS1 activation and IL4-induced cell growth
497 – 497 Phosphotyrosine
228 – 825 Missing. In isoform 2.
497 – 497 Y -> F. Abolishes IRS1 tyrosine phosphorylation. No cell proliferation.
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 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;
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.