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Structural, biophysical and cellular assessment of filamin C M82K: A test case for VUS interpretation in cardiomyopathy
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DOI：10.1016/j.yjmcc.2026.06.009.png)
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Abstract
En 中文
• FLNC-M82K variant was identified in two unrelated dilated cardiomyopathy patients. • Biophysical analyses on M82K reveals reduced thermal stability, increased aggregation and impaired actin-binding. • Treatment with cycloheximide showed reduced protein stability in FLNC-M82K. • Expression in neonatal-rat cardiomyocytes reveals Z-disc localisation of FLNC-M82K with no evidence for aggregation • An integrated framework offering mechanistic insights for interpretating VUS in cardiomyopathy-associated genes.
Keywords:
Filamin C (FLNC)
Dilated cardiomyopathy
Pathogenic variants
Biophysical characterisation
Structural modelling
Protein aggregation
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