SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name Q9UKY4

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)
Q9UKY4 POMT2_HUMAN muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a2 p.Ile198Asn
p.Gly353Ser
p.Val373Phe
p.Arg413Pro
p.His478Arg
p.Gly482Val
p.Tyr666Cys
p.Gly726Glu








Q9UKY4 POMT2_HUMAN muscular dystrophy-dystroglycanopathy congenital with mental retardation b2 p.Gly246Asp
p.Tyr666Cys
p.Phe717Ser
p.Gly726Glu
p.Trp748Arg





Q9UKY4 POMT2_HUMAN muscular dystrophy-dystroglycanopathy limb-girdle c2 p.Thr184Met
p.Trp748Ser