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UniProtKB/Swiss-Prot P30518: Variant p.Tyr280Cys

Vasopressin V2 receptor
Gene: AVPR2
Variant information

Variant position:  280
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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

Involvement in disease:  Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. {ECO:0000269|PubMed:10694923, ECO:0000269|PubMed:10770218, ECO:0000269|PubMed:11026555, ECO:0000269|PubMed:11232028, ECO:0000269|PubMed:11916004, ECO:0000269|PubMed:1303257, ECO:0000269|PubMed:1303271, ECO:0000269|PubMed:1356229, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:7560098, ECO:0000269|PubMed:7833930, ECO:0000269|PubMed:7984150, ECO:0000269|PubMed:7987330, ECO:0000269|PubMed:7999078, ECO:0000269|PubMed:8037205, ECO:0000269|PubMed:8045948, ECO:0000269|PubMed:8078903, ECO:0000269|PubMed:8267567, ECO:0000269|PubMed:8479490, ECO:0000269|PubMed:8514744, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9452109, ECO:0000269|PubMed:9711877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In XNDI.
Any additional useful information about the variant.

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



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.

TypePositionsDescription
Chain 1 – 371 Vasopressin V2 receptor
Transmembrane 272 – 293 Helical; Name=6


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;

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.