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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96NR8: Variant p.Thr49Met

Retinol dehydrogenase 12
Gene: RDH12
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Variant information Variant position: help 49 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 Threonine (T) to Methionine (M) at position 49 (T49M, p.Thr49Met). 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 polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In LCA13; abolishes protection against the toxicity of 4-hydroxynonenal in the retina; results in aberrant activity in interconverting isomers of retinol and retinal; the activity profiles depend on presence or absence of variant Q-161; genetic background may act as a modifier of variant effect. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 316 The length of the canonical sequence.
Location on the sequence: help GVCRTNVQLPGKVVVITGAN T GIGKETARELASRGARVYIA 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                         GVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIA

Mouse                         GVCTTNVQIPGKVVVITGANTGIGKETARELARRGARVYIA

Bovine                        GVCRTDVQLFGKVVVITGANTGIGKETARELARRGARVYIA
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 – 316 Retinol dehydrogenase 12
Binding site 46 – 52



Literature citations
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke A.R.; Thompson D.A.; Utermann G.; Becker C.; Huebner C.A.; Schmid E.; McHenry C.L.; Nair A.R.; Rueschendorf F.; Heckenlively J.; Wissinger B.; Nuernberg P.; Gal A.;
Nat. Genet. 36:850-854(2004)
Cited for: VARIANTS LCA13 MET-49 AND CYS-226; CHARACTERIZATION OF VARIANTS LCA13 MET-49 AND CYS-226;
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.