Sequence information
Variant position: 202 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:
NVEGGSGVTDCWACFAEPWG
R RTYVTWIALMVFVAPTLGIA
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 NVEGGSGVTDCWACFAEPWGR RTYVTWIALMVFVAPTLGIA
DVGNGSGVLDCWAHFAEPWGL RAYVTWIALMVFVAPALGIA
Mouse DVGNGSGVFDCWARFAEPWGL RAYVTWIALMVFVAPALGIA
Rat DVGNGSGVFDCWARFAEPWGL RAYVTWIALMVFVAPALGIA
Pig DVGDGSGVLDCWASFAEPWGL RAYVTWIALMVFVAPALGIA
Bovine DV-DGSGVLDCWARFAEPWGL RAYVTWIALMVFVAPALGIA
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.
Literature citations
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;
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Tsukaguchi H.; Matsubara H.; Taketani S.; Mori Y.; Seido T.; Inada M.;
J. Clin. Invest. 96:2043-2050(1995)
Cited for: VARIANTS XNDI PRO-143; CYS-202 AND VAL-277 DEL;
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.