Sequence information
Variant position: 492 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 823 The length of the canonical sequence.
Location on the sequence:
RSVIPRQKVLCVFWEHGQNG
C GHWATTGCSTIGTRDTSTIC
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 RSVI--PRQKVLCVFWEHGQNGC GHWATTGCSTIGTRDTSTIC
HSATHEPKLKVFCVFWEHSQDEC GHWSTRGCTVVDSGDTST
Rhesus macaque RSVI--PRRKVLCVFWEHGQNGC GHWATTGCSTMDTRDTST
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
Chain
24 – 823
Adhesion G protein-coupled receptor E2
Topological domain
24 – 540
Extracellular
Domain
479 – 529
GPS
Alternative sequence
473 – 530
Missing. In isoform 6.
Literature citations
Vibratory urticaria associated with a missense variant in ADGRE2.
Boyden S.E.; Desai A.; Cruse G.; Young M.L.; Bolan H.C.; Scott L.M.; Eisch A.R.; Long R.D.; Lee C.C.; Satorius C.L.; Pakstis A.J.; Olivera A.; Mullikin J.C.; Chouery E.; Megarbane A.; Medlej-Hashim M.; Kidd K.K.; Kastner D.L.; Metcalfe D.D.; Komarow H.D.;
N. Engl. J. Med. 374:656-663(2016)
Cited for: INVOLVEMENT IN VBU; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT VBU TYR-492; CHARACTERIZATION OF VARIANT VBU TYR-492;
Disclaimer:
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.