Variant position: 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 371 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 VCLPLYFSGVMWTLIYDTIY AHQDKRDDVLIGLKSTALRFG
Mouse VCLPLYFSGVMWTLIYDTIY AHQDKKDDALIGLKSTALLFQ
Rat VCLPLYFSGVMWTLIYDTIY AHQDKKDDALIGLKSTALLFR
Bovine VCLPLYFSGIMWTLIYDTIY AHQDKKDDALIGLKSTALLFR
Caenorhabditis elegans APFWMYAAALQWTLIYDTIY AHQDKADDIMIGVKSTALRLG
Drosophila ACLPLYLSGVCWTIVYDTIY AHQDKLDDLQIGVKSTALRFG
Slime mold IVAPLYLAGISWTMVYDTIY AHQDKRDDILVGVKSTALKFA
Baker's yeast TMIPLYLSSYLWCMTYDTIY AHQDKKFDIKAGIKSTALAWG
Fission yeast VVAPLYLSTISWIVLYDTIY AHQDKRDDVKANIYSTALRFG
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
35 – 371 4-hydroxybenzoate polyprenyltransferase, mitochondrial
232 – 252 Helical
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats M.A.; Morbidoni V.; Silic-Benussi M.; Doimo M.; Ciminale V.; Cassina M.; Sacconi S.; Hirano M.; Basso G.; Pierrel F.; Navas P.; Salviati L.; Trevisson E.;
Hum. Mol. Genet. 25:4256-4265(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; CHARACTERIZATION OF VARIANTS COQ10D1 VAL-78; ASN-96; ARG-132; HIS-147; SER-178; CYS-247 AND VAL-252;
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Jakobs B.S.; van den Heuvel L.P.; Smeets R.J.; de Vries M.C.; Hien S.; Schaible T.; Smeitink J.A.; Wevers R.A.; Wortmann S.B.; Rodenburg R.J.;
J. Neurol. Sci. 326:24-28(2013)
Cited for: VARIANT COQ10D1 VAL-252;
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.