Variant position: 514 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 647 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 FFYDPQQHKVALLDFGATRE YDRSFTDLYIQIIRAAADRDR
Mouse FFYDPQQHKVALLDFGATRE YDRSFTDLYIQVIRAAADQDR
Rat FFYDPQQHKVALLDFGATRE YDRSFTDLYIQVIRAAADQDR
Bovine FFYDPELHKVALLDFGATRE FDRSFTDLYIQIIRAAANQDR
Zebrafish FFYDPQTHRVALLDFGATRG FDESFTDVYIEIIKAAADGNR
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
163 – 647 Atypical kinase COQ8A, mitochondrial
329 – 518 Protein kinase
507 – 507 ATP
507 – 507 D -> N. Strongly impairs binding ADP or ATP. Impaired multi-subunit COQ enzyme complex.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C.; Tazir M.; Lopez L.C.; Quinzii C.M.; Assoum M.; Drouot N.; Busso C.; Makri S.; Ali-Pacha L.; Benhassine T.; Anheim M.; Lynch D.R.; Thibault C.; Plewniak F.; Bianchetti L.; Tranchant C.; Poch O.; DiMauro S.; Mandel J.-L.; Barros M.H.; Hirano M.; Koenig M.;
Am. J. Hum. Genet. 82:661-672(2008)
Cited for: VARIANTS COQ10D4 CYS-514; SER-549 AND THR-584 DEL;
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