Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Arg137His

Vasopressin V2 receptor
Gene: AVPR2
Feedback?
Variant information Variant position: help 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Histidine (H) at position 137 (R137H, p.Arg137His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In NDI1; fails to activate the adenylyl cyclase system. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 371 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWN

                              YLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGGGARWN

Mouse                         YLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGGGARWN

Rat                           YLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGGGARWN

Pig                           YLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGGGARWN

Bovine                        YLQMVGMYASSYMILAMTLDRHRAICRPMLAHRHGGGTHWN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 371 Vasopressin V2 receptor
Topological domain 136 – 159 Cytoplasmic
Helix 109 – 142



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 NDI1 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 NDI1 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 NDI1 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 NDI1 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 NDI1 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.