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UniProtKB/Swiss-Prot P20594: Variant p.Ala488Pro

Atrial natriuretic peptide receptor 2
Gene: NPR2
Variant information

Variant position:  488
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Proline (P) at position 488 (A488P, p.Ala488Pro).
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:  Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In ECDM; mutant and wild-type alleles have similar expression levels; the mutation results in increased guanylate cyclase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  488
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1047
The length of the canonical sequence.

Location on the sequence:   IMFGVSSFLIFRKLMLEKEL  A SMLWRIRWEELQFGNSERYH
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                         IMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSERYH

Mouse                         IMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSDRYH

Rat                           IMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSDRYH

Bovine                        IMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSERCH

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.

TypePositionsDescription
Chain 23 – 1047 Atrial natriuretic peptide receptor 2
Topological domain 479 – 1047 Cytoplasmic


Literature citations

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
Miura K.; Kim O.H.; Lee H.R.; Namba N.; Michigami T.; Yoo W.J.; Choi I.H.; Ozono K.; Cho T.J.;
Am. J. Med. Genet. A 164A:156-163(2014)
Cited for: VARIANT ECDM PRO-488; CHARACTERIZATION OF VARIANT ECDM PRO-488;

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.