Variant position: 127 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 AQIGAHTLSGACLDPGAFKE LFPDWKEK-----GAPLNTPVTEDRF
Mouse AQIGAHTLSGACLDPAAFKE LFPDWKEK-----GAPLNTPV
Rat AQIGAHTLSGACLDPAAFKE LFPDWKEK-----GAPLNTPV
Pig AHIGAHTLSGACLDPRAFEE LFPDWKEK-----GAPLNTPV
Bovine AQIGAHTLSGACLDPRALQE LFPDWKEK-----GAPLNTPV
Caenorhabditis elegans SVIGGHTLSGAVIETRALDE LIPNWKEL-----GAPVYQQV
Slime mold SEVGSHILSGAVMDPKALNE LIPDWKEK-----GAPLITEV
Baker's yeast SVLGGQTVSGAILEPGVWKE LFPDEKSDIGIPLPKELATLV
Fission yeast AEPGNHSVSGAVIQPTALDE LLPNWRDD-----PPENCTAV
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
109 – 130
132 – 132 N6-acetyllysine
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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