Variant position: 186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 332 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 GRIVFVSSQAGQLGLFGFTA YSASKFAIRGLAEALQMEVKP
Mouse GRIVFVSSQAGQLGLFGFTA YSSSKFAIRGLAEALQMEVKP
Bovine GRVVFVSSQAGQLGLFGYTA YSSSKFALRGLAEALQMEVKP
Slime mold GHIVFVSSTCGLVGVPGYST YCPSKFALRGLAETLRSELKP
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
26 – 332 3-ketodihydrosphingosine reductase
26 – 270 Cytoplasmic
186 – 186 Proton acceptor
190 – 190
173 – 173 Substrate
139 – 202 Missing. In isoform 2.
Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma.
Boyden L.M.; Vincent N.G.; Zhou J.; Hu R.; Craiglow B.G.; Bayliss S.J.; Rosman I.S.; Lucky A.W.; Diaz L.A.; Goldsmith L.A.; Paller A.S.; Lifton R.P.; Baserga S.J.; Choate K.A.;
Am. J. Hum. Genet. 100:978-984(2017)
Cited for: VARIANTS EKVP4 55-GLN-GLY-56 DELINS ARG; 86-VAL--GLN-107 DEL; PHE-186 AND 260-GLN--GLN-293 DEL; CHARACTERIZATION OF VARIANTS EKVP4 55-GLN-GLY-56 DELINS ARG; 86-VAL--GLN-107 DEL AND 260-GLN--GLN-293 DEL; FUNCTION;
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.