SWISSVAR
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1 protein found in SwissVar (33 variants)

with gene/protein name Q9H9S5

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)
Q9H9S5 FKRP_HUMAN muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5 p.Tyr307Asn
p.Cys318Tyr


Q9H9S5 FKRP_HUMAN muscular dystrophy-dystroglycanopathy congenital with or without mental retardation b5 p.Ala114Gly
p.Pro217Thr
p.Ser221Arg
p.Tyr309Cys
p.Pro315Thr
p.Pro316Arg
p.Tyr328Ser
p.Arg339His
p.Asp401Asn
p.Val405Leu
p.Pro448Leu
p.Ala455Asp
p.Asn463Asp
p.Tyr465Ser














Q9H9S5 FKRP_HUMAN muscular dystrophy-dystroglycanopathy limb-girdle c5 p.Arg54Trp
p.Val79Met
p.Arg134Trp
p.Arg143Ser
p.Val160Phe
p.Tyr182Cys
p.Leu276Ile
p.Thr293Ile
p.Val300Ala
p.Val300Met
p.Tyr307Asn
p.Arg312Cys
p.Thr314Met
p.Pro316Arg
p.Pro316Ser
p.Arg339Leu
p.Pro358Leu
p.Asp360Asn
p.Pro462Ser