Variant position: 377 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 KRIAYGARALNEGGFQSIPK LTFPGGLLIGCSPGFMNVPKI
Mouse KRIAYGARALNEGGLQSIPK LTFPGGLLIGCSPGFMNVPKI
Rat KRIAYGARALNEGGLQSIPK LTFPGGLLIGCSPGFMNVPKI
Pig KRIAYGARALNEGGFQSIPK LTFPGGLLIGCSPGFMNVPKI
Bovine KRIAYGARALNEGGLQCIPK LTFPGGLLIGCSPGFMNVPKI
Caenorhabditis elegans KRIGYGARALNEGGFQSIPK LHFPGGCLVGCSAGFLNVAKL
Slime mold TCIQYGARTINEGGFQSIPK LVFPGGALVGCTAGFVHVPKV
Baker's yeast KCIAYAARALNEGGLQSVPK LNFPGGVLVGASAGFMNVPKI
Fission yeast KCLEYAARALNEGGYQAIPK LVFPGGALIGCSAGFVNVAKI
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
357 – 357 N6-acetyllysine
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;
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