Sequence information
Variant position: 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 475 The length of the canonical sequence.
Location on the sequence:
ELHSHVTNAMVLVNVLQAIY
V IDFFWNETWYLKTIDICHDH
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 ELHSHVTNAMVLVNVLQAIYV IDFFWNETWYLKTIDICHDH
Mouse ELYGHVTNSMILVNVLQAIYV LDFFWNETWYLKTIDICHDH
Rat ELYGHVTNSMILVNVLQAIYV LDFFWNETWYLKTIDICHDH
Bovine ELYGHVTNSMVLVNILQAIYV LDFFWNETWYLKTIDICHDH
Xenopus laevis ELYGQVTNSMILVNVLQAIYV VDFFWNESWYLKTIDICHDH
Xenopus tropicalis ELYGQVTNSMILVNVLQAIYV VDFFWNESWYLKTIDICHDH
Zebrafish ELYGYVTNSMILVNVLQAVYV VDFFWNEAWYLKTIDICHDH
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 – 475
7-dehydrocholesterol reductase
Transmembrane
266 – 286
Helical
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.