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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96H96: Variant p.Ala252Val

4-hydroxybenzoate polyprenyltransferase, mitochondrial
Gene: COQ2
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Variant information Variant position: help 252 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 Alanine (A) to Valine (V) at position 252 (A252V, p.Ala252Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 COQ10D1; loss of ubiquinone biosynthesis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 371 The length of the canonical sequence.
Location on the sequence: help VCLPLYFSGVMWTLIYDTIY A HQDKRDDVLIGLKSTALRFG 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                         VCLPLYFSGVMWTLIYDTIYAHQDKRDDVLIGLKSTALRFG

Mouse                         VCLPLYFSGVMWTLIYDTIYAHQDKKDDALIGLKSTALLFQ

Rat                           VCLPLYFSGVMWTLIYDTIYAHQDKKDDALIGLKSTALLFR

Bovine                        VCLPLYFSGIMWTLIYDTIYAHQDKKDDALIGLKSTALLFR

Caenorhabditis elegans        APFWMYAAALQWTLIYDTIYAHQDKADDIMIGVKSTALRLG

Drosophila                    ACLPLYLSGVCWTIVYDTIYAHQDKLDDLQIGVKSTALRFG

Slime mold                    IVAPLYLAGISWTMVYDTIYAHQDKRDDILVGVKSTALKFA

Baker's yeast                 TMIPLYLSSYLWCMTYDTIYAHQDKKFDIKAGIKSTALAWG

Fission yeast                 VVAPLYLSTISWIVLYDTIYAHQDKRDDVKANIYSTALRFG
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 35 – 371 4-hydroxybenzoate polyprenyltransferase, mitochondrial
Transmembrane 232 – 252 Helical



Literature citations
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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING (ISOFORMS 4; 5 AND 6); FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; CHARACTERIZATION OF VARIANTS COQ10D1 VAL-78; ASN-96; ARG-132; HIS-147; SER-178; CYS-247 AND VAL-252; CATALYTIC ACTIVITY; 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;
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.