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UniProtKB/Swiss-Prot Q16134: Variant p.Lys590Glu

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
Gene: ETFDH
Variant information

Variant position:  590
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Lysine (K) to Glutamate (E) at position 590 (K590E, p.Lys590Glu).
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 large size and basic (K) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Glutaric aciduria 2C (GA2C) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269|PubMed:12359134, ECO:0000269|PubMed:12815589, ECO:0000269|PubMed:16527485, ECO:0000269|PubMed:17412732, ECO:0000269|PubMed:19249206, ECO:0000269|PubMed:20370797}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GA2C.
Any additional useful information about the variant.



Sequence information

Variant position:  590
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  617
The length of the canonical sequence.

Location on the sequence:   PVEQGDGFRLQINAQNCVHC  K TCDIKDPSQNINWVVPEGGG
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                         PVEQGD-GFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGG

Mouse                         PLEQGD-GFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGG

Rat                           PLEQGD-GFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGG

Pig                           PLEQGD-GFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGG

Bovine                        PVEQGD-GFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGG

Caenorhabditis elegans        PSEADESKKRLQINAQNCIHCKTCDIKDPQQNINWVTPEGG

Slime mold                    EGEKGE--KELVRNSVFCLHCKTCDIKDPTQNIDFTVPEGG

Baker's yeast                 KDEKSPVGTRLQINSQNCIHCKTCDIKAPRQDITWKVPEGG

Fission yeast                 NDEASSYGKRFVINSQNCVHCKTCDIKDPLQGIQWKTPQGG

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.

TypePositionsDescription
Chain 34 – 617 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
Domain 577 – 606 4Fe-4S ferredoxin-type
Metal binding 586 – 586 Iron-sulfur (4Fe-4S)
Metal binding 589 – 589 Iron-sulfur (4Fe-4S)
Metal binding 592 – 592 Iron-sulfur (4Fe-4S)


Literature citations

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Gempel K.; Topaloglu H.; Talim B.; Schneiderat P.; Schoser B.G.; Hans V.H.; Palmafy B.; Kale G.; Tokatli A.; Quinzii C.; Hirano M.; Naini A.; DiMauro S.; Prokisch H.; Lochmueller H.; Horvath R.;
Brain 130:2037-2044(2007)
Cited for: VARIANTS GA2C PRO-377; LEU-456; LEU-483 AND GLU-590;

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.