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1 protein found in SwissVar (5 variants)

with gene/protein name P31040

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)
P31040 SDHA_HUMAN mitochondrial complex ii deficiency p.Gly555Glu

P31040 SDHA_HUMAN leigh syndrome p.Cys189Gly

P31040 SDHA_HUMAN cardiomyopathy, dilated 1gg p.Gly555Glu

P31040 SDHA_HUMAN paragangliomas 5 p.Arg589Trp