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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16518: Variant p.Val473Asp

Retinoid isomerohydrolase
Gene: RPE65
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Variant information Variant position: help 473 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 Aspartate (D) at position 473 (V473D, p.Val473Asp). 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 medium size and hydrophobic (V) to medium size and acidic (D) 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 RP20. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 473 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 533 The length of the canonical sequence.
Location on the sequence: help KTKETWVWQEPDSYPSEPIF V SHPDALEEDDGVVLSVVVSP 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                         KTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSP

                              KTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSP

Mouse                         KTKEIWMWQEPDSYPSEPIFVSQPDALEEDDGVVLSVVVSP

Rat                           KTKEIWMWQEPDSYPSEPIFVSQPDALEEDDGVVLSVVVSP

Bovine                        KTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSP

Chicken                       KTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSIVISP
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 2 – 533 Retinoid isomerohydrolase
Mutagenesis 469 – 469 E -> A. Decreasing protein levels. Loss of enzymatic activity.
Mutagenesis 469 – 469 E -> Q. Decreasing protein levels. Loss of enzymatic activity.



Literature citations
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis.
Morimura H.; Fishman G.A.; Grover S.A.; Fulton A.B.; Berson E.L.; Dryja T.P.;
Proc. Natl. Acad. Sci. U.S.A. 95:3088-3093(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS RP20 TRP-91; LYS-102; THR-132; SER-341; GLY-452 AND ASP-473; Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S.; Perrault I.; Gerber S.; Tanguy G.; Barbet F.; Ducroq D.; Calvas P.; Dollfus H.; Hamel C.; Lopponen T.; Munier F.; Santos L.; Shalev S.; Zafeiriou D.; Dufier J.-L.; Munnich A.; Rozet J.-M.; Kaplan J.;
Hum. Mutat. 23:306-317(2004)
Cited for: VARIANTS LCA2 GLN-44; ASP-148; ASN-182; TYR-330; THR-363; VAL-434 AND ASP-473; Evaluation of genotype-phenotype associations in Leber congenital amaurosis.
Galvin J.A.; Fishman G.A.; Stone E.M.; Koenekoop R.K.;
Retina 25:919-929(2005)
Cited for: VARIANTS LCA2 SER-40; TRP-91; TYR-182; ASP-239; GLU-393 AND ASP-473;
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.