Variant position: 582 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 QQADSFKATRFNLETEWKNN YPRLRELDRNELFEKAKNEIL
Mouse QQADSFKATRFNLETEWKNN YPRLRELDRNELFEKAKNEIL
Rat QQADSFKATRFNLETEWKNN YPRLRELDRNELFEKAKNEIL
Chicken QQADAFKATRFNLETEWKNN YPRLRELDRNELFEKAKNEIL
Zebrafish QQADAFKASRFNLETEWKNN YPRLRELDRNELYEKAKNEIL
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
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Ferraris S.; Clark S.; Garelli E.; Davidzon G.; Moore S.A.; Kardon R.H.; Bienstock R.J.; Longley M.J.; Mancuso M.; Gutierrez Rios P.; Hirano M.; Copeland W.C.; DiMauro S.;
Arch. Neurol. 65:125-131(2008)
Cited for: VARIANT DOA+ CYS-582;
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