Variant position: 75 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 STELRLLYQLV-FLLSEAHTC IPENNGGAGCVCHLLMDDVVS
Mouse SSQLCLHYRLMFFEFSENLTC IPRNSASTVCVCHMEMNRPV
Rat SSQLLLDYRLL-FEFSENLTC TPKNSADTVCVCQMAIEEPI
Pig SAEFRLSYQLKFFNTENHTTC VPENRAGSVCVCHMLMESIV
Horse SAQLRLSYQLN-DEFSDNLTC IPENREDEVCVCRMLMDNIV
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
26 – 232 Extracellular
64 – 64 Minor IL4 binding determinant
66 – 66 Minor IL4 binding determinant
92 – 92 Minor IL4 binding determinant
94 – 94 Minor IL4 binding determinant
74 – 86
64 – 64 L -> A. 100-fold reduction in IL4 binding.
66 – 66 F -> A. 45-fold reduction in IL4 binding.
67 – 67 L -> A. No effect on IL4 binding.
68 – 68 L -> A. No effect on IL4 binding.
91 – 91 D -> A. Little effect on IL4 binding.
92 – 92 D -> A. 50-fold reduction in IL4 binding.
93 – 93 V -> A. Little effect on IL4 binding.
94 – 94 V -> A. 35-fold reduction in IL4 binding.
95 – 95 S -> A. No effect on IL4 binding.
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;
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;
Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma.
Mitsuyasu H.; Izuhara K.; Mao X.-Q.; Gao P.S.; Arinobu Y.; Enomoto T.; Kawai M.; Sasaki S.; Dake Y.; Hamasaki N.; Shirakawa T.; Hopkin J.M.;
Nat. Genet. 19:119-120(1998)
Cited for: VARIANT VAL-75;
No association between atopy/asthma and the Ile50Val polymorphism of IL-4 receptor.
Noguchi E.; Shibasaki M.; Arinami T.; Takeda K.; Yokouchi Y.; Kobayashi K.; Imoto N.; Nakahara S.; Matsui A.; Hamaguchi H.;
Am. J. Respir. Crit. Care Med. 160:342-345(1999)
Cited for: VARIANT VAL-75;
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;
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