UniProtKB/SwissProt variant VAR

Variant information

Variant position:

280

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

Type of variant:

LP/P [Disclaimer]

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 Tyrosine (Y) to Cysteine (C) at position 280 (Y280C, p.Tyr280Cys).

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 large size and aromatic (Y) to medium size and polar (C)

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

Variant description:

In XNDI.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894752 [ dbSNP | Ensembl ]

Sequence information

Variant position:

280

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

Protein sequence length:

371

The length of the canonical sequence.

Location on the sequence:

AHVSAAVAKTVRMTLVIVVV Y VLCWAPFFLVQLWAAWDPEA

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                         AHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA

                              ARVSAAMAKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPQA

Mouse                         AHVSAAMAKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEA

Rat                           AHVSAAMAKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEA

Pig                           ARVSAAMAKTARMTLVIVAVYVLCWAPFFLVQLWSVWDPKA

Bovine                        ARVSAAVAKTVKMTLVIVIVYVLCWAPFFLVQLWAAWDPEA

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	1 – 371	Vasopressin V2 receptor
Transmembrane	272 – 293	Helical; Name=6
Helix	264 – 296

Literature citations

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
Wenkert D.; Merendino J.J. Jr.; Shenker A.; Thambi N.; Robertson G.L.; Moses A.M.; Spiegel A.M.;
Hum. Mol. Genet. 3:1429-1430(1994)
Cited for: VARIANTS XNDI CYS-280 AND PRO-292;

Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Friedman E.; Bale A.E.; Carson E.; Boson W.L.; Nordenskjoeld M.; Ritzen M.; Ferriera P.C.; Jammal A.; De Marco L.;
Proc. Natl. Acad. Sci. U.S.A. 91:8457-8461(1994)
Cited for: VARIANT XNDI CYS-280;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Tyr280Cys