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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y3A0: Variant p.Arg102His

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Gene: COQ4
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Variant information Variant position: help 102 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 Histidine (H) at position 102 (R102H, p.Arg102His). 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 (H) 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 COQ10D7 and SPAX10; likely pathogenic; poorly supports cell growth in a yeast complementation assay suggesting loss of function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 265 The length of the canonical sequence.
Location on the sequence: help LKVLRDQMRRDPEGAQILQE R PRISTSTLDLGKLQSLPEGS 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                         LKVLRDQMRRDPEGAQILQERPRISTSTLDLGKLQSLPEGS

Mouse                         LKFLRDQMKKDPEGAQILQERPRISLSTLDLSKLQSLPEGS

Rat                           LKFLRDQMKKDPEGAQILQERPRISLSTLDLSKLQSLPEGS

Bovine                        LKVLRDQMKRDPEGAQILQERPRISLSTLDMGKLRSLPEGS

Xenopus laevis                LRKLRDQMRRDPEGLQILQERPRISTSTLDMQALREMQDGT

Xenopus tropicalis            LRKLRDQMRRDPEGLQILQERPRIRMSTLDFQTLREMPDGT

Zebrafish                     LIKLRDRMRNDPEGSTILLERPRIRLSTLDLSNMSALPDGT

Caenorhabditis elegans        LENIRKRMESDVVGKRLLLEKPRISNGTIDRKWLRQLPDGT

Drosophila                    LWTILDTMQASEEGQRIMADKPRIHTSTIDFKYLETLPPDT

Slime mold                    IKSMKQKMMLDPIGRQLLKEKPRIKESTYPLN-IHLLPSTT

Baker's yeast                 LENLKQTMLSDSSGRRILKEQPNITTEILHMDKLAKLPHNT

Fission yeast                 LHRLLNKMLVDKTGREILKDKPRMTSKSLNLPFLRTLPPNT
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 31 – 265 Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Modified residue 108 – 108 Phosphoserine



Literature citations
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
Mero S.; Salviati L.; Leuzzi V.; Rubegni A.; Calderan C.; Nardecchia F.; Galatolo D.; Desbats M.A.; Naef V.; Gemignani F.; Novelli M.; Tessa A.; Battini R.; Santorelli F.M.; Marchese M.;
J. Neurol. 268:3381-3389(2021)
Cited for: VARIANTS COQ10D7 ASP-95; HIS-102; SER-193 AND CYS-240; CHARACTERIZATION OF COQ10D7 ASP-95; HIS-102; SER-193 AND CYS-240;
Bi-allelic COQ4 variants cause adult-onset ataxia-spasticity spectrum disease.
Cordts I.; Semmler L.; Prasuhn J.; Seibt A.; Herebian D.; Navaratnarajah T.; Park J.; Deininger N.; Laugwitz L.; Goericke S.L.; Lingor P.; Brueggemann N.; Muenchau A.; Synofzik M.; Timmann D.; Mayr J.A.; Haack T.B.; Distelmaier F.; Deschauer M.;
Mov. Disord. 37:2147-2153(2022)
Cited for: VARIANTS SPAX10 HIS-102; LYS-126; HIS-145; CYS-146 AND GLN-158; VARIANT COQ10D7 GLY-145; INVOLVEMENT IN SPAX10;
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
Wei Q.; Yu H.; Wang P.S.; Xie J.J.; Dong H.L.; Wu Z.Y.; Li H.F.;
CNS Neurosci. Ther. 0:0-0(2023)
Cited for: VARIANTS SPAX10 CYS-102; HIS-102; CYS-145 AND GLU-178;
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.