Variant position: 272 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 SPFLSEANAERIVRTLCKVR GAALKLGQMLSIQDDAFINPH
Mouse SPFLSEANAERIVSTLCKVR GAALKLGQMLSIQDDAFINPH
Rat SPFLSEANAERIVSTLCKVR GAALKLGQMLSIQDDAFINPH
Bovine SPFLSEANAERIVRTLCKVR GAALKLGQMLSIQDDAFINPH
Zebrafish SPFLSEANAERIVRTLCKVR GAALKLGQMLSIQDDAFINPQ
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
1 – 484 Missing. In isoform 2.
1 – 279 Missing. In isoform 4.
276 – 276 K -> RH. Does not affect selectivity for binding ADP or ATP. Impaired multi-subunit COQ enzyme complex.
279 – 279 Q -> RH. Does not affect selectivity for binding ADP or ATP.
271 – 281
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet J.; Delahodde A.; Serre V.; Chretien D.; Schlemmer D.; Lombes A.; Boddaert N.; Desguerre I.; de Lonlay P.; de Baulny H.O.; Munnich A.; Roetig A.;
Am. J. Hum. Genet. 82:623-630(2008)
Cited for: VARIANTS COQ10D4 TRP-213; VAL-272; ASP-272 AND LYS-551;
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;
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.