Sequence information
Variant position: 182 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:
AHLLSWFSPTIIFDNWIPLL
W CANILGYAVSTFAMVKGYFF
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 AHLLSWFSPTIIFDNWIPLLW CANILGYAVSTFAMVKGYFF
Mouse AYLLSWFSPTIIFDNWIPLLW CANILGYAVSTFAMIKGYLF
Rat AYLLSWFSPTIIFDNWIPLLW CANILGYAVSTFAMIKGYLF
Bovine AHLLGWFSPTIIFDNWIPLLW CANILGYTVSTFAMVKGYLF
Xenopus laevis AYHFHWFSPTIVIDNWIPLLW CANLLGYSVATFALVKANFF
Xenopus tropicalis AYHFHWFSPTIIIDNWVPLLW CANLLGYSVATFALLKAYFF
Zebrafish AQHFHWFSPTIIIDNWIPLLW CTNILGYAVSTFAFIKAYLF
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
177 – 197
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.