SGCA (Alpha-sarcoglycan) variants and mutations

SGCA (also known as Alpha-sarcoglycan) is a human protein-coding gene encoding an alpha-sarcoglycan protein. It is part of the sarcoglycan complex that stabilizes the muscle-cell membrane during contraction by linking dystrophin-associated structures to extracellular matrix. Biallelic loss-of-function variants cause limb-girdle muscular dystrophy R3 with progressive proximal weakness and possible cardiomyopathy. This analysis covers 684 SGCA variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes autosomal recessive limb-girdle muscular dystrophy type 2D, autosomal recessive limb-girdle muscular dystrophy, and Abnormality of the musculature. Example SGCA variants include M1V, T4K, and T4T.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SGCA variants

Examples include M1V, T4K, T4T, L5V, F6L, F6I, F6F, W7*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.