Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 217 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 ALGAGTALLGKEGAMACTVA VEESIAHHYNNQIRTL-----------MEEDP
Mouse ALGAGTALLGKEGAMACTVA VEESIANHYNNQIRML-----
Bovine ALGAGTALLGKEGAMACTVA VEESIAHHYNNQIRTL-----
Caenorhabditis elegans ALGVGSALLGKEGAMACTIA VEELIGQHYNDQLKEL-----
Slime mold GLGYVSALMGKEAAMAVTVA VETVISDHYNDQLRQ------
Baker's yeast AMGAGTALISPEAAMACTEA VETVIGGHYNGQLRNLANQFN
Fission yeast ALGAGTALLGTKAAMACTEA VETVIGGHYNDQLRETAH---
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
36 – 217 5-demethoxyubiquinone hydroxylase, mitochondrial
130 – 217 2
48 – 217 2 X approximate tandem repeats
142 – 142 Iron 2
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C.; Stranneheim H.; Naess K.; Mourier A.; Felser A.; Maffezzini C.; Lesko N.; Bruhn H.; Engvall M.; Wibom R.; Barbaro M.; Hinze Y.; Magnusson M.; Andeer R.; Zetterstroem R.H.; von Doebeln U.; Wredenberg A.; Wedell A.;
J. Med. Genet. 52:779-783(2015)
Cited for: INVOLVEMENT IN COQ10D8; VARIANT COQ10D8 GLU-141;
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