Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 GLFEVGSEPFYHLFDGQALL HKFDFKEGHVTYHRRFIRTDA
Mouse GLFEVGSEPFYHLFDGQALL HKFDFKEGHVTYHRRFIRTDA
Rat GLFEVGSEPFYHLFDGQALL HKFDFKEGHVTYYRRFIRTDA
Bovine GLFEVGSEPFYHLFDGQALL HKFDFKEGHVTYHRRFIRTDA
Chicken GLFEVGAEPFYHLFDGQALL HKFDFKEGHVTYHRRFVRTDA
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
2 – 533 Retinoid isomerohydrolase
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
Marlhens F.; Griffoin J.-M.; Bareil C.; Arnaud B.; Claustres M.; Hamel C.P.;
Eur. J. Hum. Genet. 6:527-531(1998)
Cited for: VARIANTS LCA2 PRO-22 AND TYR-68;
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