Variant position: 248 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:
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 RIGKWFDFKLFFNGRPGIVA WTLINLSFAAKQRELHSHVTN
Mouse RIGKWFDFKLFFNGRPGIVA WTLINLSFAAKQQELYGHVTN
Rat RIGKWFDFKLFFNGRPGIVA WTLINLSFAAKQQELYGHVTN
Bovine RIGKWFDFKLFFNGRPGIVA WTLINLSFAAKQQELYGHVTN
Xenopus laevis RIGKWFDFKLFFNGRPGIVA WTLINLSYAAKQQELYGQVTN
Xenopus tropicalis RIGKWFDFKLFFNGRPGIVA WTLINLSYAAKQQELYGQVTN
Zebrafish RIGKWFDFKLFFNGRPGIVA WTLINLSYAAKQQELYGYVTN
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
1 – 475 7-dehydrocholesterol reductase
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
Waterham H.R.; Wijburg F.A.; Hennekam R.C.M.; Vreken P.; Poll-The B.T.; Dorland L.; Duran M.; Jira P.E.; Smeitink J.A.M.; Wevers R.A.; Wanders R.J.A.;
Am. J. Hum. Genet. 63:329-338(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SLOS LEU-119; ARG-244 AND CYS-248;
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome.
Jira P.E.; Wanders R.J.A.; Smeitink J.A.M.; De Jong J.; Wevers R.A.; Oostheim W.; Tuerlings J.H.A.M.; Hennekam R.C.M.; Sengers R.C.A.; Waterham H.R.;
Ann. Hum. Genet. 65:229-236(2001)
Cited for: VARIANTS SLOS MET-93; PRO-109; LEU-119; MET-154; LEU-182; TYR-183; GLU-198; HIS-242; ARG-244; CYS-248 AND LEU-255;
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.