Bearing in mind that single-variant analysis showed NT-proBNP levels to be dependent on patients' age and since the invasively treated patients were younger, multivariant analysis was performed to determine the effect of ejection fraction, age, and clinical symptoms of heart failure on NT-proBNP levels.
E/I: Exon/Intron, F: frame shift, M: missense alteration, UV: unclassified variant E/I: Exon/Intron, M: missense alteration, P: polymorphism, UV: unclassified variant SSCP analysis showed abnormal migration patterns in polyacrylamide gels for exons 7, 8, 13, 16, 18 and 21.
We confirmed that these mutant phenotypes were not simply due to over-expression of the A-type lamin variants, as western analysis showed that the wild-type Lamin C (which had no effect) and mutant variants were expressed at similar levels (Supplementary Material, Fig. S1).
Western blot analysis showed that variant RcsB proteins were stable (Fig. 5C), ruling out the possibility the observed lack of flhDC repression was due to absence of RcsB.
Stratified analysis showed that the variant A-allele in rs2241718 locus and a haplotype consisting of rs1800469 variant A-allele and rs1800470 wild-type T-allele were protective against pathological centrilobular changes.
The Q-PCR analysis showed that variants 2 and 3 were expressed in the eyeballs and optic lobes as well as in embryos at stages 16 and 25.
Phylogenetic analysis showed that variants from this group tend to emerge.
The analysis showed several variants with deleted or inserted motifs that range from −8 to +7 motifs, similar to those described before (Floros et al, 1995).
Further analysis showed that variants m.513G>C and m.9614A>T were not likely to be disease-causing mutations; m.513G>C was a non-coding variant and recurrent in multiple haplogroups in PhyloTree, whereas m.9614A>T was located in the COIII coding region but resulted in a synonymous AA change.
The c.5408G>C/p.Gly1803Ala variant has been reported three times in the BIC database as a VUS and functional studies as well as in silico analysis showed that the variant had an uncertain or no effect on the protein level [ 11, 21].
