Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 LEKTLQACWARLPPATQAHY GGAFLTKYLKMQQRIMNLICD
Mouse LESTLKACWARLPPAIQAHY GEAFLDTYLRVQRRIMNLICD
Bovine LEDTLQACWARLPPATQALY GEAFLTKYLRVQQRIMNMICD
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
24 – 318 11-cis retinol dehydrogenase
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Liden M.; Romert A.; Tryggvason K.; Persson B.; Eriksson U.;
J. Biol. Chem. 276:49251-49257(2001)
Cited for: SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS;
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F.; Kurz D.; Bao Y.; Newman S.; Conway B.P.; Young J.E.; Han D.P.; Khani S.C.;
Mol. Vis. 5:41-41(1999)
Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294;
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Yamamoto H.; Simon A.; Eriksson U.; Harris E.; Berson E.L.; Dryja T.P.;
Nat. Genet. 22:188-191(1999)
Cited for: VARIANTS FALBI PHE-73 AND TRP-238; VARIANT VAL-33;
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