rs116840782
This is a variant in the CAV3 gene that changes a aspartate to an glutamate.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Alterations of excitation-contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscleFunctionalNina D. Ullrich et al.(2011)· Human Mutation
This functional study examined excitation-contraction coupling and calcium homeostasis in human myotubes from two rippling muscle disease (RMD) patients carrying CAV3 mutations (c.84C→A/p.D28E and c.102+2T→C splice-site). Loss of caveolin-3 expression led to reduced excitation-coupled calcium entry (50% reduction) and a rightward shift in voltage-dependent calcium release (5-mV shift in V1/2 from -29.4 to -24.7 mV), suggesting impaired coupling between DHPR and RyR1 due to microscopic disarray in their colocalization.
About CAV3
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
View all CAV3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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