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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20594: Variant p.Val882Met

Atrial natriuretic peptide receptor 2
Gene: NPR2
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Variant information Variant position: help 882 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 Valine (V) to Methionine (M) at position 882 (V882M, p.Val882Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 ECDM; the mutation results in higher guanylate cyclase activity; causes a 15-fold increase in basal Vmax; has higher affinity for GTP than wild-type in the presence of NPPC; might lead to a structural change that locks the enzyme in a conformation mimicking the ATP-bound state. Any additional useful information about the variant.


Sequence information Variant position: help 882 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1047 The length of the canonical sequence.
Location on the sequence: help IYFSDIVGFTALSAESTPMQ V VTLLNDLYTCFDAIIDNFDV 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                         IYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDV

Mouse                         IYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDV

Rat                           IYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDV

Bovine                        IYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDV
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 23 – 1047 Atrial natriuretic peptide receptor 2
Topological domain 479 – 1047 Cytoplasmic
Domain 861 – 991 Guanylate cyclase



Literature citations
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
Miura K.; Namba N.; Fujiwara M.; Ohata Y.; Ishida H.; Kitaoka T.; Kubota T.; Hirai H.; Higuchi C.; Tsumaki N.; Yoshikawa H.; Sakai N.; Michigami T.; Ozono K.;
PLoS ONE 7:E42180-E42180(2012)
Cited for: INVOLVEMENT IN ECDM; VARIANT ECDM MET-882; CHARACTERIZATION OF VARIANT ECDM MET-882; A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.
Robinson J.W.; Dickey D.M.; Miura K.; Michigami T.; Ozono K.; Potter L.R.;
Bone 56:375-382(2013)
Cited for: CHARACTERIZATION OF VARIANT ECDM MET-882;
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.