Variant position: 400 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 EKGSFCASPESSRD-DFQEGR EGIVARLTESLFLDLLGEENG
Mouse VKEDLSMSPENSGGCGFQESQ ADIMARLTENLFSDLLEAEN
Rat VKGDLSMSPENSGG-GFQESQ ADIMARLTENLFSDLLGAEN
Pig DKGSFCPSPENSGG-SFQEGR EGIAARLTESLFLDLLGDES
Horse DRGSFCPSPESSGS-GFQEGR EGVAARLTESLFLGLLGAEN
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
228 – 825 Missing. In isoform 2.
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;
Common polymorphisms in the coding part of the IL4-receptor gene.
Deichmann K.; Bardutzky J.; Forster J.; Heinzmann A.; Kuehr J.;
Biochem. Biophys. Res. Commun. 231:696-697(1997)
Cited for: VARIANTS VAL-75; ALA-400; ARG-431; LEU-436 AND PRO-786;
High contribution contrast between the genes of eosinophil peroxidase and IL-4 receptor alpha-chain in Japanese cedar pollinosis.
Nakamura H.; Miyagawa K.; Ogino K.; Endo T.; Imai T.; Ozasa K.; Motohashi Y.; Matsuzaki I.; Sasahara S.; Hatta K.; Eboshida A.;
J. Allergy Clin. Immunol. 112:1127-1131(2003)
Cited for: VARIANTS VAL-75 AND ALA-400; POLYMORPHISM;
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.