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UniProtKB/Swiss-Prot Q8WXG9: Variant p.Leu1093Phe

Adhesion G-protein coupled receptor V1
Gene: ADGRV1
Variant information

Variant position:  1093
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Leucine (L) to Phenylalanine (F) at position 1093 (L1093F, p.Leu1093Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (L) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1093
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:   SIFVNEDGIPETDEPFYIIL  L NSTGDTVVYQYGVATVIIEA
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                         SIFVNEDGIPETDEPFYIILLNSTGDTVVYQYGVATVIIEA

Mouse                         SVHVKDDGIPETDEPFYIVLFNSTGDTVVYEYGVATVIIEA

Zebrafish                     SVAVVDDNIPETDEPFYIVLFNATGDAVVYGQITATVVIEA

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.

TypePositionsDescription
Chain 30 – 6306 Adhesion G-protein coupled receptor V1
Chain 30 – 5890 ADGRV1 subunit alpha
Topological domain 30 – 5908 Extracellular
Domain 993 – 1093 Calx-beta 8
Alternative sequence 1 – 4339 Missing. In isoform 2.


Literature citations

Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
Nagase T.; Kikuno R.; Ohara O.;
DNA Res. 8:319-327(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 413-6306 (ISOFORM 4); VARIANT PHE-1093;

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;

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.