Variant position: 223 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 326 The length of the canonical sequence.
Location on the sequence:
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 PKLLKFCQQH-DIVITAYSPL GTSRNPIWVNVSSPPLLKDAL
Mouse TKLLKFCQQH-DIVIVAHSPL GTCRNPSWVNVSSPPLLNDE
Rat TKLLEVSASSMTSFIVAYSPL GTCRNPLWVNVSSPPLLKDE
Rabbit PKLLKFCQQH-DIIIVAYSPL GTCRNPMWVNTSLPPLLKDT
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.
Type Positions Description
1 – 326 Aldo-keto reductase family 1 member D1
219 – 224 NADP
230 – 230 Substrate
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;
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