Sequence information
Variant position: 181 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:
LVAWAFSLLLSLPQLFIFAQ
R NVEGGSGVTDCWACFAEPWG
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 LVAWAFSLLLSLPQLFIFAQR NVEGGSGVTDCWACFAEPWG
LVAWAFSLILSLPQLFIFAQR DVGNGSGVLDCWAHFAEPWG
Mouse LVAWAFSLLLSLPQLFIFAQR DVGNGSGVFDCWARFAEPWG
Rat LVAWAFSLLLSLPQLFIFAQR DVGNGSGVFDCWARFAEPWG
Pig LVAWAFSLLLSLPQLFIFAQR DVGDGSGVLDCWASFAEPWG
Bovine LLAWAFSLLFSLPQLFIFAQR DV-DGSGVLDCWARFAEPWG
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
Chain
1 – 371
Vasopressin V2 receptor
Topological domain
181 – 200
Extracellular
Beta strand
178 – 181
Literature citations
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;
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
Schoeneberg T.; Schulz A.; Biebermann H.; Grueters A.; Grimm T.; Huebschmann K.; Filler G.; Gudermann T.; Schultz G.;
Hum. Mutat. 12:196-205(1998)
Cited for: VARIANTS XNDI HIS-137 AND CYS-181;
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.