SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name O75072

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)
O75072 FKTN_HUMAN muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a4 p.Ala170Glu
p.Cys250Gly
p.Tyr371Cys



O75072 FKTN_HUMAN muscular dystrophy-dystroglycanopathy congenital without mental retardation b4 p.Arg246Gly
p.Arg307Gln


O75072 FKTN_HUMAN muscular dystrophy-dystroglycanopathy limb-girdle c4 p.Ala114Thr
p.Phe176Ser
p.Arg307Gln



O75072 FKTN_HUMAN cardiomyopathy, dilated 1x p.Arg179Thr
p.Gln358Pro