Variant position: 402 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 ISLNVKGPGLQRMVLVDLPG VINTVTSGMAPDTKETIFSIS
Mouse ISLNVKGPGLQRMVLVDLPG VINTVTSGMAPDTKETIFSIS
Rat ISLNVKGPGLQRMVLVDLPG VINTVTSGMAPDTKETIFSIS
Chicken ISLSVRGPGLQRMVLVDLPG VISTVTSGMAPDTKETIFSIS
Zebrafish ISLSVKGPGIQRMVLVDLPG VISTVTTGMAADTKETIFSIS
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
88 – 960 Dynamin-like 120 kDa protein, mitochondrial
195 – 960 Dynamin-like 120 kDa protein, form S1
114 – 960 Mitochondrial intermembrane
285 – 561 Dynamin-type G
398 – 402 GTP
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D.; Colin E.; Oca F.; Ferre M.; Chevrollier A.; Gueguen N.; Desquiret-Dumas V.; N'Guyen S.; Barth M.; Zanlonghi X.; Rio M.; Desguerre I.; Barnerias C.; Momtchilova M.; Rodriguez D.; Slama A.; Lenaers G.; Procaccio V.; Amati-Bonneau P.; Reynier P.;
Cited for: INVOLVEMENT IN BEHRS; VARIANTS BEHRS MET-382; MET-402 AND LYS-487;
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