Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBM7: Variant p.Cys311Gly

7-dehydrocholesterol reductase
Gene: DHCR7
Feedback?
Variant information Variant position: help 311 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Cysteine (C) to Glycine (G) at position 311 (C311G, p.Cys311Gly). 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: help Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In SLOS. Any additional useful information about the variant.


Sequence information Variant position: help 311 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 475 The length of the canonical sequence.
Location on the sequence: help YLKTIDICHDHFGWYLGWGD C VWLPYLYTLQGLYLVYHPVQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQ

Mouse                         YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQ

Rat                           YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQ

Bovine                        YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQ

Xenopus laevis                YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYNPVE

Xenopus tropicalis            YLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYNPVE

Zebrafish                     YLKTIDICHDHFGWYLGWGDCVWLPFLYTLQGLYLVYNPIQ
Sequence annotation in neighborhood: help 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 1 – 475 7-dehydrocholesterol reductase
Transmembrane 306 – 326 Helical
Mutagenesis 306 – 306 L -> R. Loss of 7-dehydrocholesterol reductase activity.
Mutagenesis 317 – 317 L -> V. No effect on 7-dehydrocholesterol reductase activity.



Literature citations
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M.; Fitzky B.U.; Ogorelkova M.; Kraft H.G.; Moebius F.F.; Glossmann H.; Seedorf U.; Gillessen-Kaesbach G.; Hoffmann G.F.; Clayton P.; Kelley R.I.; Utermann G.;
Am. J. Hum. Genet. 66:402-412(2000)
Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; HIS-107; PRO-109; ASP-147; MET-154; PRO-157; LEU-169; CYS-182; CYS-242; VAL-247; MET-281; ILE-289; GLY-311; TYR-311; HIS-324; LEU-326; GLN-352; TRP-352; ALA-353; CYS-362; TYR-380; ARG-380; SER-380; LEU-397; CYS-404; SER-404; HIS-408; SER-410; ARG-410; CYS-443; GLN-446; GLN-448; LYS-448 AND LEU-450;
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.