Variant position: 463 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 750 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 GLV-----IDLETTSLPVVVISNVS QLPSGWASILWYNMLVAEPRN
Mouse GLV-----IDLETTSLPVVVISNVS QLPSGWASILWYNMLV
Pig GLV-----IDLETTSLPVVVISNVS QLPSGWASILWYNMLV
Caenorhabditis elegans GNLSKEEQFDVWTLSLPIMVTVHGS QDCDAQVAILWHRAFA
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
2 – 750 Signal transducer and activator of transcription 1-alpha/beta
461 – 463
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Chapgier A.; Boisson-Dupuis S.; Jouanguy E.; Vogt G.; Feinberg J.; Prochnicka-Chalufour A.; Casrouge A.; Yang K.; Soudais C.; Fieschi C.; Santos O.F.; Bustamante J.; Picard C.; de Beaucoudrey L.; Emile J.F.; Arkwright P.D.; Schreiber R.D.; Rolinck-Werninghaus C.; Rosen-Wolff A.; Magdorf K.; Roesler J.; Casanova J.L.;
PLoS Genet. 2:E131-E131(2006)
Cited for: VARIANTS IMD31A GLN-320 AND HIS-463; CHARACTERIZATION OF VARIANTS GLN-320; HIS-463 AND SER-706;
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.