Variant position: 138 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 CLDPGAFKELFPDWKEK-----GAP LNTPVTEDRFGILTEK--YRIPV
Mouse CLDPAAFKELFPDWKEK-----GAP LNTPVTEDRFAILTEK
Rat CLDPAAFKELFPDWKEK-----GAP LNTPVTEDRFAILTEK
Pig CLDPRAFEELFPDWKEK-----GAP LNTPVTEDRFGILTEK
Bovine CLDPRALQELFPDWKEK-----GAP LNTPVTEDRFGILTEK
Caenorhabditis elegans VIETRALDELIPNWKEL-----GAP VYQQVTSESIAILTES
Slime mold VMDPKALNELIPDWKEK-----GAP LITEVKQDKFYFLTEN
Baker's yeast ILEPGVWKELFPDEKSDIGIPLPKE LATLVTKEHLKFLKGK
Fission yeast VIQPTALDELLPNWRDD-----PPE NCTAVTHDKMKFLIPK
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
132 – 132 N6-acetyllysine
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.