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UniProtKB/Swiss-Prot Q96H96: Variant p.Met132Arg

4-hydroxybenzoate polyprenyltransferase, mitochondrial
Gene: COQ2
Variant information

Variant position:  132
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Methionine (M) to Arginine (R) at position 132 (M132R, p.Met132Arg).
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:  Change from medium size and hydrophobic (M) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  In COQ10D1; decreased ubiquinone biosynthesis.
Any additional useful information about the variant.



Sequence information

Variant position:  132
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:   LSLFGTGAILMRGAGCTIND  M WDQDYDKKVTRTANRPIAAG
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                         LSLFGTGAILMRGAGCTINDMWDQDYDKKVTRTANRPIAAG

Mouse                         LSLFGTGAILMRGAGCTINDMWDRDFDKKVTRTANRPIAAG

Rat                           LSLFGTGAILMRGAGCTINDMWDRDFDKKVERTANRPIAAG

Bovine                        LSLFGTGAVLMRGAGCTINDMWDRDYDKKVTRTASRPIAAG

Caenorhabditis elegans        LSLFGAGAFLMRSAGCVINDLWDKDFDKKVERTKLRPLACG

Drosophila                    LGLFGTGALIMRGAGCTINDLWDKDIDAKVERTRLRPLASG

Slime mold                    MLVFGIGAYVMRSAGCVINDMADYKFDSKVERTKTRPIASK

Baker's yeast                 LGIFGVGALVMRGAGCTINDFLDRKLDQRVIRSVERPIASG

Fission yeast                 LALFGVGSFLMRSAGCVINDLWDRELDAKVERSKSRPLASG

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.

TypePositionsDescription
Chain 35 – 371 4-hydroxybenzoate polyprenyltransferase, mitochondrial
Topological domain 130 – 148 Mitochondrial matrix
Region 122 – 144 Allylic polyprenyl diphosphate-binding site


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: FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; CHARACTERIZATION OF VARIANTS COQ10D1 VAL-78; ASN-96; ARG-132; HIS-147; SER-178; CYS-247 AND VAL-252;

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats M.A.; Vetro A.; Limongelli I.; Lunardi G.; Casarin A.; Doimo M.; Spinazzi M.; Angelini C.; Cenacchi G.; Burlina A.; Rodriguez Hernandez M.A.; Chiandetti L.; Clementi M.; Trevisson E.; Navas P.; Zuffardi O.; Salviati L.;
Eur. J. Hum. Genet. 23:1254-1258(2015)
Cited for: VARIANT COQ10D1 ARG-132;

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.