Variant position: 206 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 GSGVTDCWACFAEPWGRRTY VTWIALMVFVAPTLGIAACQV
Mouse GSGVFDCWARFAEPWGLRAY VTWIALMVFVAPALGIAACQV
Rat GSGVFDCWARFAEPWGLRAY VTWIALMVFVAPALGIAACQV
Pig GSGVLDCWASFAEPWGLRAY VTWIALMVFVAPALGIAACQV
Bovine GSGVLDCWARFAEPWGLRAY VTWIALMVFVAPALGIAACQV
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.
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;
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.