Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 459 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 YYFRTPEINNSSGEMDPILL TISILSFFSVALLVILACVLW
Mouse STFETPEPKNQ-GGWDPVLP SVTILSLFSVFLLVILAHVLW
Horse SHFRTPE-NNS-GKMDPVLL IISIVSFFSVALMVILACVLW
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
21 – 459 Interleukin-7 receptor subunit alpha
240 – 264 Helical
232 – 232 N-linked (GlcNAc...) asparagine
233 – 233 N-linked (GlcNAc...) asparagine
237 – 459 EMDPILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ -> LSLSYGPVSPIIRRLWNIFVRNQEK. In isoform 4.
237 – 252 EMDPILLTISILSFFS -> LSLSYGPVSPIIRQEL. In isoform 2.
Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
Puel A.; Ziegler S.F.; Buckley R.H.; Leonard W.J.;
Nat. Genet. 20:394-397(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); INVOLVEMENT IN T(-)B(+)NK(+) SCID; VARIANTS THR-66; ILE-138 AND ILE-244;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS THR-66; ASP-113; ILE-138 AND ILE-244;
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
Gregory S.G.; Schmidt S.; Seth P.; Oksenberg J.R.; Hart J.; Prokop A.; Caillier S.J.; Ban M.; Goris A.; Barcellos L.F.; Lincoln R.; McCauley J.L.; Sawcer S.J.; Compston D.A.; Dubois B.; Hauser S.L.; Garcia-Blanco M.A.; Pericak-Vance M.A.; Haines J.L.;
Nat. Genet. 39:1083-1091(2007)
Cited for: VARIANT ILE-244; ASSOCIATION WITH MS3;
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.