Sequence information
Variant position: 137 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:
YLQMVGMYASSYMILAMTLD
R HRAICRPMLAYRHGSGAHWN
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 YLQMVGMYASSYMILAMTLDR HRAICRPMLAYRHGSGAHWN
YLQMVGMYASSYMILAMTLDR HRAICRPMLAYRHGGGARWN
Mouse YLQMVGMYASSYMILAMTLDR HRAICRPMLAYRHGGGARWN
Rat YLQMVGMYASSYMILAMTLDR HRAICRPMLAYRHGGGARWN
Pig YLQMVGMYASSYMILAMTLDR HRAICRPMLAYRHGGGARWN
Bovine YLQMVGMYASSYMILAMTLDR HRAICRPMLAHRHGGGTHWN
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
136 – 159
Cytoplasmic
Literature citations
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
Rosenthal W.; Antaramian A.; Gilbert S.; Birnbaumer M.;
J. Biol. Chem. 268:13030-13033(1993)
Cited for: VARIANT XNDI HIS-137;
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;
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji Y.; Takahashi T.; Suzuki Y.; Suzuki T.; Komatsu K.; Hirono H.; Shoji Y.; Yokoyama T.; Kito H.; Takada G.;
Hum. Mutat. Suppl. 1:S278-S283(1998)
Cited for: VARIANTS XNDI HIS-137; VAL-277 DEL AND PRO-309;
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;
Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
Carroll P.; Al-Mojalli H.; Al-Abbad A.; Al-Hassoun I.; Al-Hamed M.; Al-Amr R.; Butt A.I.; Meyer B.F.;
Genet. Med. 8:443-447(2006)
Cited for: VARIANTS XNDI ASP-122 AND HIS-137;
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.