SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name A4D126

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)
A4D126 ISPD_HUMAN muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a7 p.Ala122Pro
p.Arg126His
p.Asp156Asn
p.Arg205His
p.Met213Arg
p.Ala216Asp
p.Tyr226His
p.Thr238Ile








A4D126 ISPD_HUMAN muscular dystrophy-dystroglycanopathy limb-girdle c7 p.Ala53Thr
p.Gly54Ala
p.Pro149Leu
p.Tyr226Cys