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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99807: Variant p.Leu111Pro

NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial
Gene: COQ7
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Variant information Variant position: help 111 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 Leucine (L) to Proline (P) at position 111 (L111P, p.Leu111Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; likely pathogenic; decreased NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase activity in ubiquinone biosynthetic process; decreased expression. Any additional useful information about the variant.


Sequence information Variant position: help 111 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 KDHLKKFNELMVTFRVRPTV L MPLWNVLGFALGAGTALLGK 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                         KDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGK

Mouse                         KNHLKKFNELMIAFRVRPTVLMPLWNVAGFALGAGTALLGK

Rat                           KNHLKKFNELMVAFRVRPTVLMPLWNVAGFALGAGTALLGK

Bovine                        KDHLKKFNELMVAFRVRPTVLMPFWNVVGFALGAGTALLGK

Caenorhabditis elegans        KEHLDTMERLAAKHNVPHTVFSPVFSVAAYALGVGSALLGK

Slime mold                    KEHQAKFNQLIYEKRVRPTILSPIWNVAGFGLGYVSALMGK

Baker's yeast                 IHHHNTFNNLQLKRRVRPSLLTPLWKAGAFAMGAGTALISP

Fission yeast                 KYHLATFDNYVLKNRVRPTFLRPFWDIAGFALGAGTALLGT
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 93 – 93



Literature citations
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; CATALYTIC ACTIVITY;
Clinical spectrum in multiple families with primary COQ10 deficiency.
Hashemi S.S.; Zare-Abdollahi D.; Bakhshandeh M.K.; Vafaee A.; Abolhasani S.; Inanloo Rahatloo K.; DanaeeFard F.; Farboodi N.; Rohani M.; Alavi A.;
Am. J. Med. Genet. A 185:440-452(2021)
Cited for: VARIANT COQ10D8 PRO-111;
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.