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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02753: Variant p.Ala73Thr

Retinol-binding protein 4
Gene: RBP4
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Variant information Variant position: help 73 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 Alanine (A) to Threonine (T) at position 73 (A73T, p.Ala73Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MCOPCB10; dramatic reduction in retinol binding; has greater affinity for the STRA6 receptor. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 201 The length of the canonical sequence.
Location on the sequence: help LFLQDNIVAEFSVDETGQMS A TAKGRVRLLNNWDVCADMVG 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.
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 19 – 201 Retinol-binding protein 4
Chain 19 – 200 Plasma retinol-binding protein(1-182)
Chain 19 – 199 Plasma retinol-binding protein(1-181)
Chain 19 – 197 Plasma retinol-binding protein(1-179)
Chain 19 – 194 Plasma retinol-binding protein(1-176)
Disulfide bond 22 – 178
Beta strand 71 – 81



Literature citations
Biochemical basis for dominant inheritance, variable penetrance, and maternal effects in RBP4 congenital eye disease.
Chou C.M.; Nelson C.; Tarle S.A.; Pribila J.T.; Bardakjian T.; Woods S.; Schneider A.; Glaser T.;
Cell 161:634-646(2015)
Cited for: INVOLVEMENT IN MCOPCB10; VARIANTS MCOPCB10 THR-73 AND THR-75; CHARACTERIZATION OF VARIANTS MCOPCB10 THR-73 AND THR-75; INTERACTION WITH STRA6;
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.