rs774048743
This is a variant in the CAPN3 gene that changes a alanine to an threonine.
▶ClinVar annotation
Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1); Muscular dystrophy, limb-girdle, autosomal dominant 4
View on ClinVar →About CAPN3
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
View all CAPN3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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