Variant position: 474 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 531 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 QPATPRIQHPFGSVPFGYGV RACLGRRIAELEMQLLLARLI
Mouse EADNPGILHPFGSVPFGYGV RSCLGRRIAELEMQLMLSRLV
Rat EDDNSGIQHPFGSVPFGYGV RSCLGRRIAELEMQLLLSRLI
Rabbit QPETSKTQHPFGSVPFGYGV RACLGRRIAELEMQLLLARLI
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
34 – 531 Sterol 26-hydroxylase, mitochondrial
476 – 476 Iron (heme axial ligand)
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
Kim K.-K.; Kubota S.; Kuriyama M.; Fujiyama J.; Bjorkhem I.; Eggertsen G.; Seyama Y.;
J. Lipid Res. 35:1031-1039(1994)
Cited for: VARIANTS CTX GLN-474 AND TRP-474; CHARACTERIZATION OF VARIANTS CTX GLN-474 AND TRP-474; FUNCTION; CATALYTIC ACTIVITY;
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.