Variant position: 452 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 VTEYEDNLKNSWVWKELYSV RNIRPSCHGVLGVYGGMIYTG
Mouse VTEYEDNLKQSWVWKELHAV RNIRPSCHGILGVYGGMIYTG
Rat VTEYEDNLKQSWVWKELHAV RNIRPSCHGILGVYGGMIYTG
Pig VTEYEDNLKNSWVWKELYSV RNIRPSCHGILGVYGGMIYTG
Bovine VTEYEDNLKKSWVWKELYAV RNIRPSCHSILGVYGGMIYTG
Caenorhabditis elegans PATYDKNIRDTYVVKELKAT RNIRPSFNTSLGYIGGLIYSG
Slime mold INEYPEELKKSWVWKELREV RNYRPSLH--WGTIPGLIYGA
Baker's yeast LESYESAFKESSIYKELYEV RNIRPSFSGKLGGYGGMIYSG
Fission yeast LNDYEENLKNTYVFKELYSV RNIRPSFHSFLGNYGGMAYSA
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
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
Goodman S.I.; Binard R.J.; Woontner M.R.; Frerman F.E.;
Mol. Genet. Metab. 77:86-90(2002)
Cited for: VARIANTS GA2C CYS-49; PHE-82; PRO-82; ARG-138; ASN-218; PRO-222; PHE-262; PRO-334; ARG-346; LYS-452; LEU-456; LEU-562 AND GLU-611; VARIANTS CYS-16 AND ILE-31;
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.