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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99807: Variant p.Arg54Gln

NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial
Gene: COQ7
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Variant information Variant position: help 54 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 Arginine (R) to Glutamine (Q) at position 54 (R54Q, p.Arg54Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In COQ10D8 and HMNR9; likely pathogenic; decreased COQ7 and COQ10 protein levels in homozygous COQ10D8 patient cells. Any additional useful information about the variant.


Sequence information Variant position: help 54 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 FRSSGMTLDNISRAAVDRII R VDHAGEYGANRIYAGQMAVL 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                         FRSSG-MTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVL

Mouse                         CHSSG-MTLDNINRAAVDRIIRVDHAGEYGANRIYAGQMAV

Rat                           CHSTG-MTLDNINRAAVDQIIRVDHAGEYGANRIYAGQMAV

Bovine                        FCSSG-MTLDNINREAVDRIIRVDHAGEYGANRIYAGQMAV

Caenorhabditis elegans        VITRG-AHTAASRQALIEKIIRVDHAGELGADRIYAGQLAV

Slime mold                    VLSE--IEKEKLKRQIIERIIRVDHAGEFGAARIYEGQLAV

Baker's yeast                 EHAPKCQNLSDAQAAFLDRVIRVDQAGELGADYIYAGQYFV

Fission yeast                 RISMGRKELSEKDSNILDSVIRVDQAGELGANQIYKGQHFI
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 NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial
Repeat 48 – 129 1
Region 48 – 217 2 X approximate tandem repeats
Binding site 51 – 51
Binding site 60 – 60
Mutagenesis 51 – 51 R -> A. Loss of function activity; when associated with A-208; A-212 and A-216.
Helix 46 – 74



Literature citations
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options.
Wang Y.; Gumus E.; Hekimi S.;
Mol. Genet. Metab. Rep. 31:100877-100877(2022)
Cited for: VARIANT COQ10D8 GLN-54; CHARACTERIZATION OF VARIANT COQ10D8 GLN-54;
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P.; Duque Lasio M.L.; Magistrati M.; Pathak S.; Sample B.; Carvalho D.R.; Ortega A.B.; Castro M.A.A.; de Gusmao C.M.; Toler T.L.; Bellacchio E.; Dallabona C.; Shinawi M.;
Mol. Genet. Metab. 139:107630-107630(2023)
Cited for: VARIANTS COQ10D8 GLN-54 AND CYS-149; VARIANTS HMNR9 GLN-54 AND CYS-149;
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.