UniProtKB/Swiss-Prot Q9Y3A0: Variant p.Gly178Glu

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Gene: COQ4
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Variant information Variant position:

178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Glycine (G) to Glutamate (E) at position 178 (G178E, p.Gly178Glu). 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:

Change from glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In SPAX10; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs754865584 [ dbSNP | Ensembl ]

Sequence information Variant position:

178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

265 The length of the canonical sequence.
Location on the sequence:

RYREVHDMLHTLLGMPTNIL G EIVVKWFEAVQTGLPMCILG 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RYREVHDMLHTLLGMPTNILGEIVVKWFEAVQTGLPMCILG

Mouse                         RYREVHDMLHTLLGMPTNMLGEVVVKWFEAVQTGLPMCILG

Rat                           RYREVHDMLHTLLGMPTNMLGEVVVKWFEAVQTGLPMCILG

Bovine                        RYREIHDMLHALLGMPTNILGEIVVKWFEAVQTGLPMCVLS

Xenopus laevis                RYREVHDLMHTLLGMPTNMLGEVVVKWFEAVQTGLPMCILG

Xenopus tropicalis            RYREVHDLMHTLLGMPTNMLGEVVVKWFEAVQTGLPMCILG

Zebrafish                     RYREVHDLLHTLLGMPTNMLGEVAVKWFEAAQTGLPMCILG

Caenorhabditis elegans        RYRETHDFTHIALEQKTNMLGEVTVKYFEGIQYGLPMCVTG

Drosophila                    RYRECHDLIHTVLDMPTNMLGEVAVKWVEALNTGLPMCYGG

Slime mold                    RYREVHDFWHVLAGVRPDFQGEVAIKWFEFLQTGLPMNAIG

Baker's yeast                 RYRQCHDFYHAITNMPIIIEGEITIKALEGANLGVPMAILG

Fission yeast                 RYRESHDFYHAICNMPTNIEGELAIKWLEFVNMGLPVGALS

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	31 – 265	Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Binding site	163 – 163
Binding site	164 – 164
Binding site	167 – 167
Binding site	179 – 179
Mutagenesis	164 – 164	D -> A. Abolished zinc-binding; when associated with A-179. Abolished zinc-binding and ability to promote formation of ubiquinone.

Literature citations
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.