SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name Q5JTZ9

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)
Q5JTZ9 SYAM_HUMAN combined oxidative phosphorylation deficiency 8 p.Leu155Arg
p.Arg592Trp


Q5JTZ9 SYAM_HUMAN leukoencephalopathy, progressive, with ovarian failure p.Phe50Cys
p.Glu405Lys
p.Gly965Arg