UniProtKB/SwissProt variant VAR

Protein SCO2 homolog, mitochondrial
Gene: SCO2
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Variant information Variant position:

133
Type of variant:

LP/P [Disclaimer]
Residue change:

From Cysteine (C) to Tyrosine (Y) at position 133 (C133Y, p.Cys133Tyr).
Physico-chemical properties:

Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score:

-2
Variant description:

In MC4DN2.
Other resources:

Variant rs28937868 [ dbSNP | Ensembl ]

Sequence information Variant position:

133
Protein sequence length:

266
Location on the sequence:

ARCKADFRGQWVLMYFGFTH C PDICPDELEKLVQVVRQLEA
Residue conservation:

Human                         ARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEA

Mouse                         PRCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRKLEA

Bovine                        VRCKADFRGQWVLLYFGFTHCPDICPDELEKLVQVVRQLEA

Zebrafish                     RRTKRDFLGHWVLLYFGFTHCPDICPDELEKLTSVVHILDK

Baker's yeast                 PFTEENLKGKFSILYFGFSHCPDICPEELDRLTYWISELDD

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43819: Variant p.Cys133Tyr