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UniProtKB/Swiss-Prot P51857: Variant p.Gly223Glu

Aldo-keto reductase family 1 member D1
Gene: AKR1D1
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Variant information Variant position: help 223 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 Glycine (G) to Glutamate (E) at position 223 (G223E, p.Gly223Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CBAS2; decreases protein level; accumulates in inclusion bodies; decreases 5-beta-reductase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 326 The length of the canonical sequence.
Location on the sequence: help PKLLKFCQQHDIVITAYSPL G TSRNPIWVNVSSPPLLKDAL 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                         PKLLKFCQQH-DIVITAYSPLGTSRNPIWVNVSSPPLLKDAL

Mouse                         TKLLKFCQQH-DIVIVAHSPLGTCRNPSWVNVSSPPLLNDE

Rat                           TKLLEVSASSMTSFIVAYSPLGTCRNPLWVNVSSPPLLKDE

Rabbit                        PKLLKFCQQH-DIIIVAYSPLGTCRNPMWVNTSLPPLLKDT
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 – 326 Aldo-keto reductase family 1 member D1
Binding site 219 – 224
Binding site 230 – 230



Literature citations
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
Drury J.E.; Mindnich R.; Penning T.M.;
J. Biol. Chem. 285:24529-24537(2010)
Cited for: CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS CBAS2 PHE-106; ARG-133; LEU-198; GLU-223 AND CYS-261; BIOPHYSICOCHEMICAL PROPERTIES; SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
Ueki I.; Kimura A.; Chen H.L.; Yorifuji T.; Mori J.; Itoh S.; Maruyama K.; Ishige T.; Takei H.; Nittono H.; Kurosawa T.; Kage M.; Matsuishi T.;
J. Gastroenterol. Hepatol. 24:776-785(2009)
Cited for: VARIANTS CBAS2 50-ARG--TYR-326 DEL AND GLU-223;
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.