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UniProtKB/Swiss-Prot Q02318: Variant p.Arg474Gln

Sterol 26-hydroxylase, mitochondrial
Gene: CYP27A1
Variant information

Variant position:  474
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Glutamine (Q) at position 474 (R474Q, p.Arg474Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In CTX; impairs sterol 26-hydroxylase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   QPATPRIQHPFGSVPFGYGV  R ACLGRRIAELEMQLLLARLI
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                         QPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLI

Mouse                         EADNPGILHPFGSVPFGYGVRSCLGRRIAELEMQLMLSRLV

Rat                           EDDNSGIQHPFGSVPFGYGVRSCLGRRIAELEMQLLLSRLI

Rabbit                        QPETSKTQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLI

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.

TypePositionsDescription
Chain 34 – 531 Sterol 26-hydroxylase, mitochondrial
Metal binding 476 – 476 Iron (heme axial ligand)


Literature citations

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;

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.