UniProtKB/Swiss-Prot Q92781: Variant p.Gly238Trp

11-cis retinol dehydrogenase
Gene: RDH5
Chromosomal location: 12q13-q14
Variant information

Variant position:  238
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Tryptophan (W) at position 238 (G238W, p.Gly238Trp).
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 glycine (G) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  Fundus albipunctatus (FALBI) [MIM:136880]: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10369264, ECO:0000269|PubMed:10617778, ECO:0000269|PubMed:11053295, ECO:0000269|PubMed:11078852, ECO:0000269|PubMed:11470705, ECO:0000269|PubMed:12788147, ECO:0000269|PubMed:12967826, ECO:0000269|PubMed:25820994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region.
Any additional useful information about the variant.

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



Sequence information

Variant position:  238
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  318
The length of the canonical sequence.

Location on the sequence:   LEKTLQACWARLPPATQAHY  G GAFLTKYLKMQQRIMNLICD
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                         LEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICD

Mouse                         LESTLKACWARLPPAIQAHYGEAFLDTYLRVQRRIMNLICD

Bovine                        LEDTLQACWARLPPATQALYGEAFLTKYLRVQQRIMNMICD

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 24 – 318 11-cis retinol dehydrogenase


Literature citations

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Liden M.; Romert A.; Tryggvason K.; Persson B.; Eriksson U.;
J. Biol. Chem. 276:49251-49257(2001)
Cited for: SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS;

11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F.; Kurz D.; Bao Y.; Newman S.; Conway B.P.; Young J.E.; Han D.P.; Khani S.C.;
Mol. Vis. 5:41-41(1999)
Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294;

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Yamamoto H.; Simon A.; Eriksson U.; Harris E.; Berson E.L.; Dryja T.P.;
Nat. Genet. 22:188-191(1999)
Cited for: VARIANTS FALBI PHE-73 AND TRP-238; VARIANT VAL-33;

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.