Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 316 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 HDLQSEKRYSRGFAYCHSKL ANVLFTRELAKRLQGTGVTTY
Mouse HDLQGQKRYCSAFAYGHSKL ANLLFTRELAKRLQGTGVTAY
Bovine HDLQGDKYYNLGFAYCHSKL ANVLFTRELAKRLKGTGVTTY
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 – 316 Retinol dehydrogenase 12
200 – 200 Proton acceptor
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson D.A.; Janecke A.R.; Lange J.; Feathers K.L.; Hubner C.A.; McHenry C.L.; Stockton D.W.; Rammesmayer G.; Lupski J.R.; Antinolo G.; Ayuso C.; Baiget M.; Gouras P.; Heckenlively J.R.; den Hollander A.; Jacobson S.G.; Lewis R.A.; Sieving P.A.; Wissinger B.; Yzer S.; Zrenner E.; Utermann G.; Gal A.;
Hum. Mol. Genet. 14:3865-3875(2005)
Cited for: VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285; VARIANTS GLN-65; ASN-101; GLN-161 AND CYS-193; CHARACTERIZATION OF VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285; CHARACTERIZATION OF VARIANT GLN-161;
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.