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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43819: Variant p.Cys133Tyr

Protein SCO2 homolog, mitochondrial
Gene: SCO2
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Variant information Variant position: help 133
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 133 (C133Y, p.Cys133Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In MC4DN2.
Other resources: help


Sequence information Variant position: help 133
Protein sequence length: help 266
Location on the sequence: help ARCKADFRGQWVLMYFGFTH C PDICPDELEKLVQVVRQLEA
Residue conservation: help
Human                         ARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEA

Mouse                         PRCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRKLEA

Bovine                        VRCKADFRGQWVLLYFGFTHCPDICPDELEKLVQVVRQLEA

Zebrafish                     RRTKRDFLGHWVLLYFGFTHCPDICPDELEKLTSVVHILDK

Baker's yeast                 PFTEENLKGKFSILYFGFSHCPDICPEELDRLTYWISELDD

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 42 – 266 Protein SCO2 homolog, mitochondrial
Topological domain 79 – 266 Mitochondrial intermembrane
Domain 85 – 259 Thioredoxin
Binding site 133 – 133
Binding site 137 – 137
Disulfide bond 133 – 137 Redox-active



Literature citations
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 MC4DN2 TYR-133 AND LYS-140;
Disclaimer: 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.