Variant position: 175 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 RIPVPILPGLPMNNHG-NYIV RLGHLVSWMGEQAEALGVEVY
Mouse RIPVPILPGLPMNNHG-NYIV RLGHLVSWMGEQAEALGVEV
Rat RIPVPILPGLPMNNHG-NYIV RLGHLVSWMGEQAEALGVEV
Pig RIPVPILPGLPMNNHG-NYVV RLGHLVSWMGEQAEALGVEV
Bovine RIPVPILPGLPMNNHG-NYIV RLGHLVSWMGEQAEALGVEV
Caenorhabditis elegans RIPVPVLPGVPLANHG-NYIV RLGKVVQWLGEQAEAAGVEV
Slime mold RLPTPRL----MHNEG-NYII SLGNVVRWLGEQAESMGVEV
Baker's yeast AISVPEPS--QMINKGRNYIV SLNQVVGYLGEKAEEVGVEV
Fission yeast HFPIPVPP--AMKNHG-NYVM SLAEFTRWLAAKAEEYGVEI
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
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Liang W.C.; Ohkuma A.; Hayashi Y.K.; Lopez L.C.; Hirano M.; Nonaka I.; Noguchi S.; Chen L.H.; Jong Y.J.; Nishino I.;
Neuromuscul. Disord. 19:212-216(2009)
Cited for: VARIANTS GA2C THR-84; HIS-127 AND LEU-175;
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