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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23942: Variant p.Val209Ile

Peripherin-2
Gene: PRPH2
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Variant information Variant position: help 209 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 Isoleucine (I) at position 209 (V209I, p.Val209Ile). 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 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 VMD3; increased protein expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 209 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 346 The length of the canonical sequence.
Location on the sequence: help SKEVKDRIKSNVDGRYLVDG V PFSCCNPSSPRPCIQYQITN 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                         SKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITN

                              SKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTN

Mouse                         SKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTN

Rat                           SKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTN

Bovine                        SKEVKDRIKSNVDGRYLVDGVPFSCCNPNSPRPCIQYQLTN

Cat                           SKEVKDRIKSNVDGRYLVDGVPFSCCNPNSPRPCIQYQLTN

Chicken                       SKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQVTN

Xenopus laevis                SKEVKDRIQSNVDGKYLIDGVPFSCCNPSSPRPCIQLQVTN
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 – 346 Peripherin-2
Topological domain 124 – 264 Lumenal
Glycosylation 229 – 229 N-linked (GlcNAc...) asparagine



Literature citations
PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
Coco R.M.; Telleria J.J.; Sanabria M.R.; Rodriguez-Rua E.; Garcia M.T.;
Eur. J. Ophthalmol. 20:724-732(2010)
Cited for: VARIANTS VMD3 PHE-45 AND ILE-209; VARIANT CACD2 LEU-195; In vivo analysis of disease-associated point mutations unveils profound differences in mRNA splicing of peripherin-2 in rod and cone photoreceptors.
Becirovic E.; Boehm S.; Nguyen O.N.; Riedmayr L.M.; Koch M.A.; Schulze E.; Kohl S.; Borsch O.; Santos-Ferreira T.; Ader M.; Michalakis S.; Biel M.;
PLoS Genet. 12:E1005811-E1005811(2016)
Cited for: CHARACTERIZATION OF VARIANTS RP7 ARG-198; LEU-210; SER-214 AND SER-249; CHARACTERIZATION OF VARIANT CACD2 LEU-195; CHARACTERIZATION OF VARIANT VMD3 ILE-209; CHARACTERIZATION OF VARIANT MDPT1 GLN-220;
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.