SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name Q9H078

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)
Q9H078 CLPB_HUMAN 3-methylglutaconic aciduria 7 p.Thr268Met
p.Tyr272Cys
p.Arg408Gly
p.Met411Ile
p.Cys486Arg
p.Glu501Lys
p.Tyr567Cys
p.Ala591Val
p.Tyr617Cys
p.Gly646Val
p.Ile682Asn