Variant position: 2764 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 6306 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 GQNLELNFANFSGQLFFPEG SLNTTLFVHLLDDNIPEEKEV
Mouse GQNLEVNFANFTGQLFFSEG TLNKTIFVHLLDDNIPEEKEV
Zebrafish GPLVPTTFADTSGTLFFSEG ILNNTIVLKLLEDTTPEDREE
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
30 – 6306 Adhesion G-protein coupled receptor V1
30 – 5890 ADGRV1 subunit alpha
30 – 5908 Extracellular
2689 – 2789 Calx-beta 19
1 – 4339 Missing. In isoform 2.
1467 – 6306 Missing. In isoform 4.
2307 – 6306 Missing. In isoform 3.
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
Weston M.D.; Luijendijk M.W.J.; Humphrey K.D.; Moeller C.; Kimberling W.J.;
Am. J. Hum. Genet. 74:357-366(2004)
Cited for: INVOLVEMENT IN USH2C; VARIANTS ARG-127; LYS-249; PHE-1093; MET-1927; ILE-1951; ASP-1985; LEU-1987; PHE-2004; CYS-2232; SER-2345; ALA-2379; SER-2584; LEU-2764; THR-2803; VAL-3217; ASP-3248; LYS-3471 AND GLY-5344;
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.