Sequence information
Variant position: 198 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:
LILNKPGLKHKPVSNQVECH
P YFTQPKLLKFCQQHDIVITA
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 LILNKPGLKHKPVSNQVECHP YFTQPKLLKFCQQH-DIVITA
Mouse LILNKPGLKYKPVTNQVECHP YFTQTKLLKFCQQH-DIVIV
Rat VILNKPGLKYKPVTNQVECHP YFTQTKLLEVSASSMTSFIV
Rabbit LLLNKPGLKHKPVCNQVECHP YFTQPKLLKFCQQH-DIIIV
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
Chain
1 – 326
Aldo-keto reductase family 1 member D1
Binding site
193 – 193
NADP
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;
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.
Lemonde H.A.; Custard E.J.; Bouquet J.; Duran M.; Overmars H.; Scambler P.J.; Clayton P.T.;
Gut 52:1494-1499(2003)
Cited for: VARIANTS CBAS2 PHE-106 AND LEU-198;
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.