Variant position: 205 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 GGSGVTDCWACFAEPWGRRT YVTWIALMVFVAPTLGIAACQ
Mouse NGSGVFDCWARFAEPWGLRA YVTWIALMVFVAPALGIAACQ
Rat NGSGVFDCWARFAEPWGLRA YVTWIALMVFVAPALGIAACQ
Pig DGSGVLDCWASFAEPWGLRA YVTWIALMVFVAPALGIAACQ
Bovine DGSGVLDCWARFAEPWGLRA YVTWIALMVFVAPALGIAACQ
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.
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
van den Ouweland A.M.W.; Dreesen J.C.F.M.; Verdijk M.; Knoers N.V.A.M.; Monnens L.A.H.; Rocchi M.; van Oost B.A.;
Nat. Genet. 2:99-102(1992)
Cited for: VARIANTS XNDI CYS-185; CYS-203 AND CYS-205;
Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.
Postina R.; Ufer E.; Pfeiffer R.; Knoers N.V.; Fahrenholz F.;
Mol. Cell. Endocrinol. 164:31-39(2000)
Cited for: CHARACTERIZATION OF VARIANTS XNDI ASN-204; CYS-205 AND ASP-206;
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