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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75880: Variant p.Pro174Leu

Protein SCO1 homolog, mitochondrial
Gene: SCO1
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Variant information Variant position: help 174
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 174 (P174L, p.Pro174Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MC4DN4; no effect on synthesis of cytochrome c oxidase subunit II; reduced stability of newly synthesized cytochrome c oxidase subunit II; reduced copper-binding.
Other resources: help


Sequence information Variant position: help 174
Protein sequence length: help 301
Location on the sequence: help DYLGQWLLIYFGFTHCPDVC P EELEKMIQVVDEIDSITTLP
Residue conservation: help 
Human                         DYLGQWLLIYFGFTHCPDVCPEELEKMIQVVDEIDSITTLP

Mouse                         DYLGQWVLIYFGFTHCPDICPEELEKMIEVVEEIDSIPSLP

Bovine                        DYLGQWVLIYFGFTHCPDICPEELEKMIQVVDEIDSIPTLP

Baker's yeast                 NLLGKFSIIYFGFSNCPDICPDELDKLGLWLNTLSSKYGI-

Fission yeast                 DFKGKFSLIYFGFTRCPDICPDELDKMSAAIDIVNNVVGD-
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 68 – 301 Protein SCO1 homolog, mitochondrial
Topological domain 112 – 301 Mitochondrial intermembrane
Binding site 169 – 169
Binding site 173 – 173
Helix 172 – 189



Literature citations
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
Leary S.C.; Cobine P.A.; Kaufman B.A.; Guercin G.H.; Mattman A.; Palaty J.; Lockitch G.; Winge D.R.; Rustin P.; Horvath R.; Shoubridge E.A.;
Cell Metab. 5:9-20(2007)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT MC4DN4 LEU-174; Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Leary S.C.; Sasarman F.; Nishimura T.; Shoubridge E.A.;
Hum. Mol. Genet. 18:2230-2240(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT MC4DN4 LEU-174; Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Valnot I.; Osmond S.; Gigarel N.; Mehaye B.; Amiel J.; Cormier-Daire V.; Munnich A.; Bonnefont J.-P.; Rustin P.; Rotig A.;
Am. J. Hum. Genet. 67:1104-1109(2000)
Cited for: VARIANT MC4DN4 LEU-174; Human Sco1 functional studies and pathological implications of the P174L mutant.
Banci L.; Bertini I.; Ciofi-Baffoni S.; Leontari I.; Martinelli M.; Palumaa P.; Sillard R.; Wang S.;
Proc. Natl. Acad. Sci. U.S.A. 104:15-20(2007)
Cited for: CHARACTERIZATION OF VARIANT MC4DN4 LEU-174;
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.