UniProtKB/Swiss-Prot Q8WXG9: Variant p.Glu5344Gly

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

5344 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 Glutamate (E) to Glycine (G) at position 5344 (E5344G, p.Glu5344Gly). 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 acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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.

Variant rs2438374 [ dbSNP | Ensembl ]

Sequence information Variant position:

5344 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:

GQEFFYVFLTNPQGGAQIVE E KDDTGFAAFAMVIITGSDLH 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                         GQEFFYVFLTNPQGGAQIVEEKDDTGFAAFAMVIITGSDLH

Mouse                         GQEFFYVFLTDPQGGAEIVRGKDSTGFSAFAVIIISGSDLH

Zebrafish                     GQEAFFIYLSDAEGGAQIVSVPDELGFTSFAKIIILGSDLQ

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	30 – 6306	Adhesion G-protein coupled receptor V1
Chain	30 – 5890	ADGRV1 subunit alpha
Topological domain	30 – 5908	Extracellular
Alternative sequence	1467 – 6306	Missing. In isoform 4.
Alternative sequence	2307 – 6306	Missing. In isoform 3.

Literature citations
Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain.
Nikkila H.; McMillan D.R.; Nunez B.S.; Pascoe L.; Curnow K.M.; White P.C.;
Mol. Endocrinol. 14:1351-1364(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT GLY-5344; TISSUE SPECIFICITY; Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.
McMillan D.R.; Kayes-Wandover K.M.; Richardson J.A.; White P.C.;
J. Biol. Chem. 277:785-792(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANT GLY-5344; DEVELOPMENTAL STAGE; DOMAIN; Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Ishikawa K.; Nagase T.; Suyama M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:169-176(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5107-6306 (ISOFORMS 1/2); VARIANT GLY-5344; 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.