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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99807: Variant p.Val141Glu

5-demethoxyubiquinone hydroxylase, mitochondrial
Gene: COQ7
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Variant information Variant position: help 141 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 Valine (V) to Glutamate (E) at position 141 (V141E, p.Val141Glu). 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 medium size and hydrophobic (V) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 COQ10D8; decreased function in ubiquinone biosynthetic process. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 217 The length of the canonical sequence.
Location on the sequence: help ALGAGTALLGKEGAMACTVA V EESIAHHYNNQIRTLMEEDP 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                         ALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTL-----------MEEDP

Mouse                         ALGAGTALLGKEGAMACTVAVEESIANHYNNQIRML-----

Bovine                        ALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTL-----

Caenorhabditis elegans        ALGVGSALLGKEGAMACTIAVEELIGQHYNDQLKEL-----

Slime mold                    GLGYVSALMGKEAAMAVTVAVETVISDHYNDQLRQ------

Baker's yeast                 AMGAGTALISPEAAMACTEAVETVIGGHYNGQLRNLANQFN

Fission yeast                 ALGAGTALLGTKAAMACTEAVETVIGGHYNDQLRETAH---
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 36 – 217 5-demethoxyubiquinone hydroxylase, mitochondrial
Repeat 130 – 217 2
Region 48 – 217 2 X approximate tandem repeats
Binding site 142 – 142
Helix 131 – 156



Literature citations
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C.; Stranneheim H.; Naess K.; Mourier A.; Felser A.; Maffezzini C.; Lesko N.; Bruhn H.; Engvall M.; Wibom R.; Barbaro M.; Hinze Y.; Magnusson M.; Andeer R.; Zetterstroem R.H.; von Doebeln U.; Wredenberg A.; Wedell A.;
J. Med. Genet. 52:779-783(2015)
Cited for: INVOLVEMENT IN COQ10D8; VARIANT COQ10D8 GLU-141; Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Wang Y.; Smith C.; Parboosingh J.S.; Khan A.; Innes M.; Hekimi S.;
J. Cell. Mol. Med. 21:2329-2343(2017)
Cited for: VARIANTS COQ10D8 PRO-111 AND GLU-141; CHARACTERIZATION OF VARIANTS COQ10D8 PRO-111 AND GLU-141; VARIANT MET-103; MUTAGENESIS OF GLU-178; FUNCTION;
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.