SWISSVAR
Home  |  Contact

1 protein found in SwissVar (12 variants)

with gene/protein name Q99714

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)
Q99714 HCD2_HUMAN hds10 mitochondrial disease p.Val12Leu
p.Val65Ala
p.Asp86Gly
p.Leu122Val
p.Arg130Cys
p.Gln165His
p.Val176Met
p.Pro210Ser
p.Lys212Glu
p.Arg226Gln
p.Asn247Ser
p.Glu249Gln



1U7TA (122)
1U7TA (130)





1U7TB (247)