Table 2.
Mutations of human FLNC gene.
| Mutation/Variant | Phenotype | Reference |
|---|---|---|
| c.6565 G>T, p.Glu2189Ter (R20) c.8107delG, p.Asp2703ThrfsTer69 (R24) |
Arrhythmogenic right ventricular cardiomyopathy | [88] |
| 7 novel and 2 rare variants | Arrhythmogenic cardiomyopathy | [16,89] |
| heterozygous missense mutation (c.7123G > A, p.V2375I) in R21 | Myofibrillar myopathies with lower motor neuron syndrome | [90] |
| c.201G>A, p.Trp34Ter (srABD) | Arrhythmogenic bileaflet mitral valve prolapse syndrome | [91] |
| c.6902C.T, p.Pro2301Leu (R20) | Familial Restrictive Cardiomyopathy | [92] |
| c.577G > A, p.Ala193Thr (srABD) | Distal and proximal myofibrillar myopathy, cerebellar and CNS sensory ataxia, and pyramidal signs as a consequence of cerebellar and spinal cord abnormalities | [93] |
| c.A664G:p.Met222Val (srABD) | Distal myofibrillar myopathy | [94] |
| p.Asp1691Asn (R15) and p.Asp648Tyr (R4) | myopathy | [95] |
| 28 variants, See the reference |
Hypertrophic cardiomyopathies, restrictive cardiomyopathies, dilated cardiomyopathy, left ventricle cardiomyopathy | [96] |
| 43 variants See the reference |
Hypertrophic cardiomyopathy | [97] |
| p.Phe1626SerfsTer40 (R14) | Dilated cardiomyopathy with sudden cardiac death | [98] |
| p.Pro2298Leu (R20) p.Tyr2563Cys (R23) |
Restrictive cardiomyopathy | [99] |
| c.7536_7548del, p.Pro2513GlufsTer12 (R23) | Cardiac arrhythmias | [100] |
| 6 variants See the reference |
Arrhythmogenic dilated cardiomyopathy | [101] |
| c.2791_2805del, p.931_935del (R7) | Myofibrillar myopathies | [102] |
| c.3557C>T, p.Ala1186Val (R10) c.[3547G>C; 3548C>T], p.Ala1183Leu (R10) |
Restrictive cardiomyopathy | [103] |
| c.2389+1G>A (exon 15 skipping, stop in R6) | Familial dilated cardiomyopathy | [104] |
| c.6889 G>A, Val2297Met (R20) | Familial Restrictive Cardiomyopathy | [105,106] |
| c.5161delG, p.Gly1722ValfsTer61 (R15) | Distal muscular dystrophy | [107] |
| p.Gly2345Glu (R21) | Congenital heart disease | [108] |
| 10 variants | Dilated cardiomyopathy | [109] |
| c.577G>A, p.Ala193Thr (srABD) | Distal myopathy | [110] |
| 38 variants | Hypertrophic Cardiomyopathy | [111] |
| 23 truncating mutations | Dilated and Arrhythmogenic Cardiomyopathy | [112] |
| c.7251+1 G>A c.5669-1delG |
Dilated cardiomyopathy | [113] |
| c.3646T>A, p.Tyr1216Asn (R10) |
Myofibrillar myopathy | [114] |
| c.318C>G, p.Phe106Leu (srABD) c.2971C>T, p.Arg991Ter (R8) |
Dilated cardiomyopathy | [115] |
| c.4871C>T, p.S1624L (R14) c.6478A>T, p.I2160F (R20) |
Familial Restrictive Cardiomyopathy | [116] |
| c.2786-2800del, p.V930-A934del (R7) | Limb-girdle muscular dystrophy | [117] |
| c.969 + 3 A > G | Muscular dystrophy, Congenital myopathy | [118] |
| c.3791 - 1 G>C | Dilated cardiomyopathy | [119] |
| p.V831I (R6) Additional 20 variants |
Pick’s disease Frontotemporal dementia |
[120] |
| c.4824G>A, p.A1539T (R14) 7 additional mutations |
Familial hypertrophic cardiomyopathy | [121] |
| c.7256C>T, p.Thr2419Met (R22) | Myofibrillar myopathy with late-onset cerebellar ataxia | [122] |
| c.5160delC, p.Phe1720LeufsTer63 (R15) | Distal myopathy with upper limb predominance | [123] |
| c.577G>A, p.Ala193Thr (srABD) c.752T>C, p.Met251Thr (srABD) |
Distal myopathy | [124] |
| c. 2695-2712 del/GTTTGT ins, p. Lys899-Val904 del, Val899-Cys900 ins (R7) | Myofibrillar myopathy | [125] |
| c.2997–3008del, p.Val930_Thr933del (R7) | Myofibrillar myopathy | [126] |
| c.8130G >A, p.Trp2710Ter (R24) | Myofibrillar myopathy | [14,127,128] |