Variant position: 143 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 MYASSYMILAMTLDRHRAIC RPMLAYRHGSGAHWNRPVLVA
Mouse MYASSYMILAMTLDRHRAIC RPMLAYRHGGGARWNRPVLVA
Rat MYASSYMILAMTLDRHRAIC RPMLAYRHGGGARWNRPVLVA
Pig MYASSYMILAMTLDRHRAIC RPMLAYRHGGGARWNRPVLVA
Bovine MYASSYMILAMTLDRHRAIC RPMLAHRHGGGTHWNRPVLLA
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
1 – 371 Vasopressin V2 receptor
136 – 159 Cytoplasmic
Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
Tsukaguchi H.; Matsubara H.; Aritaki S.; Kimura T.; Abe S.; Inada M.;
Biochem. Biophys. Res. Commun. 197:1000-1010(1993)
Cited for: VARIANTS XNDI PRO-143 AND VAL-277 DEL;
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;
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