Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92781: Variant p.Tyr175Phe

Retinol dehydrogenase 5
Gene: RDH5
Feedback?
Variant information Variant position: help 175 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 Tyrosine (Y) to Phenylalanine (F) at position 175 (Y175F, p.Tyr175Phe). 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 large size and aromatic. 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 FALBI. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 318 The length of the canonical sequence.
Location on the sequence: help RGRVINITSVLGRLAANGGG Y CVSKFGLEAFSDSLRRDVAH 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                         RGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAH

Mouse                         RGRVVNITSVLGRIAANGGGYCVSKFGLEAFSDSLRRDMAP

Bovine                        RGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAP
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 – 318 Retinol dehydrogenase 5
Topological domain 22 – 288 Lumenal
Active site 175 – 175 Proton acceptor
Binding site 163 – 163
Glycosylation 160 – 160 N-linked (GlcNAc...) asparagine
Mutagenesis 175 – 179 YCVSK -> FCVSR. Decreases androsterone dehydrogenase activity.



Literature citations
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A.; Pawlowski P.; Michalczuk M.; Warowicka A.; Wawrocka A.; Wicher K.; Bakunowicz-Lazarczyk A.; Krawczynski M.R.;
J. Appl. Genet. 56:317-327(2015)
Cited for: VARIANT FALBI PHE-175;
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.