FKRP (Q9H9S5) variants and mutations

FKRP (also known as Q9H9S5) is a human protein-coding gene encoding a ribitol 5-phosphate transferase protein. It is required for proper glycosylation of alpha-dystroglycan, enabling muscle fibers and other cells to attach effectively to extracellular matrix. Biallelic pathogenic variants cause dystroglycanopathies ranging from limb-girdle muscular dystrophy to severe congenital muscular dystrophy with brain or eye involvement. This analysis covers 1,375 FKRP variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes autosomal recessive limb-girdle muscular dystrophy type 2I, muscular dystrophy-dystroglycanopathy type B5, and muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies). Example FKRP variants include M1?, M1L, and M1V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable FKRP variants

Examples include M1?, M1L, M1V, R2L, R2Q, R2W, R2G, R2R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.