Variant position: 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 960 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 DLVSQMDPHGRRTIFVLTKV DLAEKNVASPSRIQQIIEGKL
Mouse DLVSQMDPHGRRTIFVLTKV DLAEKNVASPSRIQQIIEGKL
Rat DLVSQMDPHGRRTIFVLTKV DLAEKNVASPSRIQQIIEGKL
Chicken DLVSQMDPQGKRTIFVLTKV DLAEKNVASPSRIQQIIEGKL
Zebrafish DLVSQMDPQGKRTIFVLTKV DLAEKNLASPSRIQQIVEGKL
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.
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O.; Delettre C.; Amati-Bonneau P.; Surget M.-O.; Charlin J.-F.; Catier A.; Derieux L.; Guyomard J.-L.; Dollfus H.; Jonveaux P.; Ayuso C.; Maumenee I.; Lorenz B.; Mohammed S.; Tourmen Y.; Bonneau D.; Malthiery Y.; Hamel C.; Reynier P.;
Hum. Mutat. 21:656-656(2003)
Cited for: VARIANTS OPA1 PRO-272; GLY-470; PRO-574 AND 700-LEU-LYS-701 DEL;
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