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:
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-GFRLQINAQNCVHC KTCDIKDPSQNINWVVPEGGG
Mouse PLEQGD-GFRLQINAQNCVHC KTCDIKDPSQNINWVVPEGG
Rat PLEQGD-GFRLQINAQNCVHC KTCDIKDPSQNINWVVPEGG
Pig PLEQGD-GFRLQINAQNCVHC KTCDIKDPSQNINWVVPEGG
Bovine PVEQGD-GFRLQINAQNCVHC KTCDIKDPSQNINWVVPEGG
Caenorhabditis elegans PSEADESKKRLQINAQNCIHC KTCDIKDPQQNINWVTPEGG
Slime mold EGEKGE--KELVRNSVFCLHC KTCDIKDPTQNIDFTVPEGG
Baker's yeast KDEKSPVGTRLQINSQNCIHC KTCDIKAPRQDITWKVPEGG
Fission yeast NDEASSYGKRFVINSQNCVHC KTCDIKDPLQGIQWKTPQGG
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
34 – 617 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
577 – 606 4Fe-4S ferredoxin-type
586 – 586 Iron-sulfur (4Fe-4S)
589 – 589 Iron-sulfur (4Fe-4S)
592 – 592 Iron-sulfur (4Fe-4S)
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.;
Cited for: VARIANTS GA2C PRO-377; LEU-456; LEU-483 AND GLU-590;
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.