filamin C
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownArthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDistal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+3 more panels — install the extension to see the full list inline on any page.
hypertrophic cardiomyopathy 26
myofibrillar myopathy 5
distal myopathy with posterior leg and anterior hand involvement
dilated cardiomyopathy
Muscle filaminopathy
familial restrictive cardiomyopathy
familial isolated restrictive cardiomyopathy
cardiomyopathy
Abnormality of the cardiovascular system
myopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Filamin-C
Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines in muscle cells. May be involved in reorganizing the actin cytoskeleton in response to signaling events (By similarity)
Curated MONDO disease pages that list FLNC among their top associated genes.
FLNC · Q14315-2isoform
No predicted structure exists for the canonical Q14315 sequence; metrics below describe this isoform.
Mean pLDDT
75.1/ 100
Confident
2,692 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
