Variant position: 456 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 EDNLKNSWVWKELYSVRNIR PSCHGVLGVYGGMIYTGIFYW
Mouse EDNLKQSWVWKELHAVRNIR PSCHGILGVYGGMIYTGIFYW
Rat EDNLKQSWVWKELHAVRNIR PSCHGILGVYGGMIYTGIFYW
Pig EDNLKNSWVWKELYSVRNIR PSCHGILGVYGGMIYTGIFYW
Bovine EDNLKKSWVWKELYAVRNIR PSCHSILGVYGGMIYTGIFYW
Caenorhabditis elegans DKNIRDTYVVKELKATRNIR PSFNTSLGYIGGLIYSGIFYV
Slime mold PEELKKSWVWKELREVRNYR PSLH--WGTIPGLIYGALEMY
Baker's yeast ESAFKESSIYKELYEVRNIR PSFSGKLGGYGGMIYSGIDSL
Fission yeast EENLKNTYVFKELYSVRNIR PSFHSFLGNYGGMAYSAVEAY
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
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Beresford M.W.; Pourfarzam M.; Turnbull D.M.; Davidson J.E.;
Neuromuscul. Disord. 16:269-273(2006)
Cited for: VARIANTS GA2C TYR-112 AND THR-456;
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