SWISSVAR
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1 protein found in SwissVar (10 variants)

with gene/protein name O43819

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O43819 SCO2_HUMAN cardioencephalomyopathy, fatal infantile p.Cys133Tyr
p.Glu140Lys
p.Arg171Trp
p.Gly193Ser
p.Ser225Phe





O43819 SCO2_HUMAN myopia 6 p.Arg112Trp
p.Arg114His
p.Arg120Trp
p.Glu140Lys
p.Ala259Val





O43819 SCO2_HUMAN leigh syndrome p.Gly193Ser
p.Met258Thr