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:
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 AHVSAAVAKTVRMTLVIVVV YVLCWAPFFLVQLWAAWDPEA
Mouse AHVSAAMAKTVRMTLVIVIV YVLCWAPFFLVQLWAAWDPEA
Rat AHVSAAMAKTVRMTLVIVIV YVLCWAPFFLVQLWAAWDPEA
Pig ARVSAAMAKTARMTLVIVAV YVLCWAPFFLVQLWSVWDPKA
Bovine ARVSAAVAKTVKMTLVIVIV YVLCWAPFFLVQLWAAWDPEA
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
1 – 371 Vasopressin V2 receptor
272 – 293 Helical; Name=6
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;
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