Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 ARCKADFRGQWVLMYFGFTH CPDICPDELEKLVQVVRQLEA
Mouse PRCKADFRGQWVLMYFGFTH CPDICPDELEKLVQVVRKLEA
Bovine VRCKADFRGQWVLLYFGFTH CPDICPDELEKLVQVVRQLEA
Zebrafish RRTKRDFLGHWVLLYFGFTH CPDICPDELEKLTSVVHILDK
Baker's yeast PFTEENLKGKFSILYFGFSH CPDICPEELDRLTYWISELDD
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
42 – 266 Protein SCO2 homolog, mitochondrial
79 – 266 Mitochondrial intermembrane
85 – 259 Thioredoxin
133 – 133 Copper
137 – 137 Copper
133 – 137 Redox-active
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
Tarnopolsky M.A.; Bourgeois J.M.; Fu M.H.; Kataeva G.; Shah J.; Simon D.K.; Mahoney D.; Johns D.; MacKay N.; Robinson B.H.;
Am. J. Med. Genet. A 125A:310-314(2004)
Cited for: VARIANTS CEMCOX1 TYR-133 AND LYS-140;
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