Variant position: 128 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 PDALCRAVKYLQMVGMYASS YMILAMTLDRHRAICRPMLAY
Mouse PDALCRAVKYLQMVGMYASS YMILAMTLDRHRAICRPMLAY
Rat PDALCRAVKYLQMVGMYASS YMILAMTLDRHRAICRPMLAY
Pig PDALCRAVKYLQMVGMYASS YMILAMTLDRHRAICRPMLAY
Bovine PDALCRAVKYLQMVGMYASS YMILAMTLDRHRAICRPMLAH
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 V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
Pan Y.; Metzenberg A.; Das S.; Jing B.; Gitschier J.;
Nat. Genet. 2:103-106(1992)
Cited for: VARIANTS XNDI SER-128; CYS-181; ARG-286 AND 247-ARG--GLY-250 DEL;
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet D.G.; Birnbaumer M.; Lonergan M.; Arthus M.-F.; Rosenthal W.; Goodyer P.; Nivet H.; Benoit S.; Giampietro P.; Simonetti S.; Fish A.; Whitley C.B.; Jaeger P.; Gertner J.; New M.; Dibona F.J.; Kaplan B.S.; Robertson G.L.; Hendy G.N.; Fujiwara T.M.; Morgan K.;
Am. J. Hum. Genet. 55:278-286(1994)
Cited for: VARIANTS XNDI MET-88; CYS-106; ARG-112; TRP-113; PHE-126; SER-128; HIS-137; SER-164; LEU-167; CYS-181; CYS-202 AND PRO-285;
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
Faa V.; Ventruto M.L.; Loche S.; Bozzola M.; Podda R.; Cao A.; Rosatelli M.C.;
Hum. Mol. Genet. 3:1685-1686(1994)
Cited for: VARIANTS XNDI SER-128; VAL-277 DEL AND LEU-286;
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