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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y3A0: Variant p.Gly124Ser

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Gene: COQ4
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Variant information Variant position: help 124 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 Glycine (G) to Serine (S) at position 124 (G124S, p.Gly124Ser). 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 glycine (G) to small size and polar (S) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 124 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 RISTSTLDLGKLQSLPEGSL G REYLRFLDVNRVSPDTRAPT 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                         RISTSTLDLGKLQSLPEGSLGREYLRFLDVNRVSPDTRAPT

Mouse                         RISLSTLDLSKLQSLPEGSLGREYLRFLDVNKVSPDTRAPT

Rat                           RISLSTLDLSKLQSLPEGSLGREYLRFLNANKVSPDTRAPT

Bovine                        RISLSTLDMGKLRSLPEGSFGRAYLHFLDVNRVSPDTRAPT

Xenopus laevis                RISTSTLDMQALREMQDGTLGREYARFLDVNRVTPDTRMPV

Xenopus tropicalis            RIRMSTLDFQTLREMPDGTFGREYARFLDVNHVTPDTRMPV

Zebrafish                     RIRLSTLDLSNMSALPDGTLGREYLRFLEENRVTPDTRAEV

Caenorhabditis elegans        RISNGTIDRKWLRQLPDGTLGKLYSNFLDRLNTSPDARPTV

Drosophila                    RIHTSTIDFKYLETLPPDTFGAAYVKFLKDNQVTPDSRMAV

Slime mold                    RIKESTYPLN-IHLLPSTTFGGAYYRWMKEHGYSPDERTEV

Baker's yeast                 NITTEILHMDKLAKLPHNTFGYVYYQWLKRENVSPDTRAPV

Fission yeast                 RMTSKSLNLPFLRTLPPNTLGKIYVDWIDKEHVGPDTRSPT
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
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.
Lu M.; Zhou Y.; Wang Z.; Xia Z.; Ren J.; Guo Q.;
J. Hum. Genet. 64:297-304(2019)
Cited for: VARIANT COQ10D7 SER-124; PATHWAY;
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu M.H.; Tsang M.H.; Lai S.; Ho M.S.; Tse D.M.L.; Willis B.; Kwong A.K.; Chou Y.Y.; Lin S.P.; Quinzii C.M.; Hwu W.L.; Chien Y.H.; Kuo P.L.; Chan V.C.; Tsoi C.; Chong S.C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.; Yeung K.S.; Fung J.L.; Lam W.; Hui J.; Lee N.C.; Fung C.W.; Chung B.H.;
NPJ Genom. Med. 4:18-18(2019)
Cited for: VARIANTS COQ10D7 SER-124; VAL-124 AND ARG-184;
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
Lin X.; Jiang J.Y.; Hong D.J.; Lin K.J.; Li J.J.; Chen Y.J.; Qiu Y.S.; Wang Z.; Liao Y.C.; Yang K.; Shi Y.; Wang M.W.; Hsu S.L.; Hong S.; Zeng Y.H.; Chen X.C.; Wang N.; Lee Y.C.; Chen W.J.;
Mov. Disord. 39:152-163(2024)
Cited for: VARIANTS SPAX10 SER-124; HIS-145; ARG-184; HIS-240 AND TRP-249; CHARACTERIZATION OF VARIANT SPAX10 HIS-240; ALTERNATIVE SPLICING;
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.