Variant position: 84 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 RFAEEADVVIVGAGPAGLSA AVRLKQLAVAHEK-DIRVCLVE
Mouse RFAEEADVVIVGAGPAGLSA AIRLKQLAAEQGK-DIRVCLV
Rat RFAEEADVVIVGAGPAGLSA AIRLKQLAAEQEK-DIRVCLV
Pig RFAEEADVVIVGAGPAGLSA ATRLKQLAAQHEK-DLRVCLV
Bovine RFAEEADVVIVGAGPAGLSA AARLKQLAAQHEK-DIRVCLV
Caenorhabditis elegans RESDVYDVVIVGGGPSGLSA AIRLRQLAEKAQK-ELRVCVV
Slime mold RDSDQFDVVIVGAGPSGLST AIRLKQLSEKAGK-DLRVCVV
Baker's yeast RARDYVDVCIVGGGPAGLAT AIKLKQLDNSSGTGQLRVVVL
Fission yeast REVEDVDVCIVGAGPAGLSA AIRIKQQAAKANR-DIRVVVL
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
71 – 85 FAD
96 – 96 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;
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan M.Y.; Fu M.H.; Liu Y.F.; Huang C.C.; Chang Y.Y.; Liu J.S.; Peng C.H.; Chen S.S.;
Clin. Genet. 78:565-569(2010)
Cited for: VARIANTS GA2C THR-84 AND HIS-175;
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.