![Dna sequencing sequencher heterozygous mutations](https://loka.nahovitsyn.com/1.jpg)
We here review FLNC genotype‐phenotype correlations based on available evidence. This domain is important for binding to the sarcomere and ensure proper cell signaling. Variants associated with HCM are predominantly missense variants which cluster in the ROD2 domain. Interference with the dimerization and folding of the protein leads to aggregate formation detrimental for muscle function, as found in HCM and MFM. Truncating variants with subsequent haploinsufficiency are associated with DCM and cardiac arrhythmias. The secondary protein structure of FLNC is critical to ensure this function. Proper functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. FLNC‐associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. FLNC variants are now among the more prevalent causes of genetic DCM. Sequencing analysis software’s DNASTAR (Lasergene) and Sequencher 5.4.6 (Gene Codes Corporation) were used for visualizing chromatograms and mutated bases were annotated to the reference canonical transcripts. Methods and results: The direct sequencing method was improved by devising primers for amplifying the LPL gene and. Validation and segregation analysis of candidate variants was performed by bidirectional Sanger sequencing using oligonucleotide primers. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). Objective: The purpose of this study was to develop an improved method of direct DNA sequencing, which makes it possible to identify heterozygous mutations of the lipoprotein lipase (LPL) gene in order to understand the underlying genetic disorder of type IV hyperlipoproteinemia. DNA, all pathogenic BRCA1 and BRCA2 mutations will exist in heterozygous form. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Background: Detection of mutations by DNA sequencing can be facilitated by. Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes.
![Dna sequencing sequencher heterozygous mutations](https://loka.nahovitsyn.com/1.jpg)