Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Trp323Ser

Vasopressin V2 receptor
Gene: AVPR2
Feedback?
Variant information Variant position: help 323 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 Tryptophan (W) to Serine (S) at position 323 (W323S, p.Trp323Ser). 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 aromatic (W) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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. Any additional useful information about the variant.


Sequence information Variant position: help 323 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 EGAPFVLLMLLASLNSCTNP W IYASFSSSVSSELRSLLCCA 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                         EGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCA

                              EGAPFVLLMLLASLNSCTNPWIYAFFSSSVSSELRSLFCWA

Mouse                         ERPPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCA

Rat                           ERPPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCA

Pig                           EGPPFVLLMLLASLNSCTNPWIYASFSSSISSELRSLLCCP

Bovine                        EGPPFVLLMLLASLNSCTNPWIYASFSSSISSELRSLLCCT
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
Transmembrane 309 – 328 Helical; Name=7
Lipidation 341 – 341 S-palmitoyl cysteine
Lipidation 342 – 342 S-palmitoyl cysteine
Alternative sequence 310 – 371 Missing. In isoform 2.
Mutagenesis 341 – 341 C -> S. Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected.
Mutagenesis 342 – 342 C -> S. Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected.
Helix 316 – 328



Literature citations
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus.
Szalai C.; Triga D.; Czinner A.;
Hum. Mutat. 12:137-138(1998)
Cited for: VARIANTS NDI1 ARG-112; LYS-317 AND SER-323;
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.