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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NI60: Variant p.Gly549Ser

Atypical kinase COQ8A, mitochondrial
Gene: COQ8A
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Variant information Variant position: help 549 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Serine (S) at position 549 (G549S, p.Gly549Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In COQ10D4; decreased stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 549 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 647 The length of the canonical sequence.
Location on the sequence: help AADRDRETVRAKSIEMKFLT G YEVKVMEDAHLDAILILGEA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEA

Mouse                         AADQDREAVLKKSIEMKFLTGYEVKAMEDAHLDAILILGEA

Rat                           AADQDREAVLKKSIEMKFLTGYEVKAMEDAHLDAILILGEA

Bovine                        AANQDREAVLKKSIEMKFLTGYEVKAMEDAHLDAILILGEA

Zebrafish                     AADGNREGVLKQSIDMKFLTGYESKAMVNAHVDAVMILGEA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 163 – 647 Atypical kinase COQ8A, mitochondrial



Literature citations
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
Stefely J.A.; Reidenbach A.G.; Ulbrich A.; Oruganty K.; Floyd B.J.; Jochem A.; Saunders J.M.; Johnson I.E.; Minogue C.E.; Wrobel R.L.; Barber G.E.; Lee D.; Li S.; Kannan N.; Coon J.J.; Bingman C.A.; Pagliarini D.J.;
Mol. Cell 57:83-94(2015)
Cited for: PROTEIN SEQUENCE OF N-TERMINUS; X-RAY CRYSTALLOGRAPHY (1.64 ANGSTROMS) OF 256-647; FUNCTION; SUBCELLULAR LOCATION; PATHWAY; DOMAIN; ACTIVITY REGULATION; MUTAGENESIS OF LYS-276; GLN-279; ALA-339; LYS-358; GLU-405; GLU-411; ASP-488; ASN-493; ASP-507 AND ARG-611; CHARACTERIZATION OF VARIANTS COQ10D4 TRP-299; CYS-429; SER-549 AND LYS-551; 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; Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R.; Czermin B.; Gulati S.; Demuth S.; Houge G.; Pyle A.; Dineiger C.; Blakely E.L.; Hassani A.; Foley C.; Brodhun M.; Storm K.; Kirschner J.; Gorman G.S.; Lochmuller H.; Holinski-Feder E.; Taylor R.W.; Chinnery P.F.;
J. Neurol. Neurosurg. Psych. 83:174-178(2012)
Cited for: VARIANTS COQ10D4 TRP-213; CYS-271; ASP-272; VAL-272; TRP-299; THR-304; VAL-304; CYS-429; SER-549 AND LYS-551;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.