UniProtKB/SwissProt variant VAR

Variant information

Variant position:

3471

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 Lysine (K) at position 3471 (E3471K, p.Glu3471Lys).

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 large size and basic (K)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

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 rs2366928 [ dbSNP | Ensembl ]

Sequence information

Variant position:

3471

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:

SGTTEVEALSSANDIYLIFA E NVFLGDQNSIDIFIWEMGQS

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                         SGTTEVEALSSANDIYLIFAENVFLGDQNSIDIFIWEMGQS

Mouse                         SGITQVEALSSGDDVYLCFAKNTFLGNQNAIDIFVWEMGHS

Zebrafish                     TEVKQVESHQMGGDTFLFIVTE---GLNPACEVFLWGSQQT

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
Repeat	3441 – 3488	EAR 5
Alternative sequence	1 – 4339	Missing. In isoform 2.
Alternative sequence	1467 – 6306	Missing. In isoform 4.
Alternative sequence	2307 – 6306	Missing. In isoform 3.

Literature citations

Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2436-4042 (ISOFORM 1); VARIANTS SER-2584 AND LYS-3471;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WXG9: Variant p.Glu3471Lys