Variant position: 752 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 DGGQTPVMASPCCGCCCGDR SSPPTTPLRAPDPSPGGVPLE
Mouse EGGQSPIVASPGCGCCYDDR SPSLGSLSGALESCPEGIPPE
Rat EDGQIHVVASPGCGCCYDEK SPSLGNLSGTLESCPGEMSQE
Pig DGGKVHVVASPCCSCCCEDG SPPMVTPLRAPDAPSSGVPLE
Horse EHGEAHTVASPCCGCCCGDR SSPPVSPVRALDPPPGGVPLE
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;
Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.
Ober C.; Leavitt S.A.; Tsalenko A.; Howard T.D.; Hoki D.M.; Daniel R.; Newman D.L.; Wu X.; Parry R.; Lester L.A.; Solway J.; Blumenthal M.; King R.A.; Xu J.; Meyers D.A.; Bleecker E.R.; Cox N.J.;
Am. J. Hum. Genet. 66:517-526(2000)
Cited for: VARIANT ALA-752;
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.